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 TKTL2 84076 broad.mit.edu 37 4 164394754 164394754 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:164394754C>T ENST00000280605.3 - 1 293 c.133G>A c.(133-135)Gca>Aca p.A45T NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 45 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) ACCTCCGCTGCACTGCAGCAC 0.602000 12 44 0 0 0.010729 0 0 OTOF 9381 broad.mit.edu 37 2 26703149 26703149 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:26703149G>A ENST00000272371.2 - 16 1960 c.1834C>T c.(1834-1836)Ctc>Ttc p.L612F OTOF_ENST00000403946.3_Missense_Mutation_p.L612F NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 612 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTCCAAAGAGAAAGAATTCT 0.572000 55 65 0 0 0.014410 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813822 100813822 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:100813822C>T ENST00000323346.5 + 12 1968 c.1655C>T c.(1654-1656)tCc>tTc p.S552F SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.S502F NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 552 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 GGAGCCACCTCCCAGAATTGT 0.453000 11 31 0 0 0.010729 0 0 ZNF676 163223 broad.mit.edu 37 19 22362810 22362810 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22362810A>T ENST00000397121.2 - 3 2026 c.1709T>A c.(1708-1710)tTt>tAt p.F570Y NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 570 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) GGATGACTTAAAAGCTTTGCC 0.388000 37 53 0 0 0.005524 0 0 ZNF646 9726 broad.mit.edu 37 16 31090315 31090315 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:31090315C>T ENST00000394979.2 + 1 3093 c.2670C>T c.(2668-2670)ttC>ttT p.F890F ZNF646_ENST00000300850.5_Silent_p.F890F O15015 ZN646_HUMAN zinc finger protein 646 890 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GCATGATCTTCCCTGGGCGGG 0.642000 28 69 0 0 0.006320 0 0 PDE1B 5153 broad.mit.edu 37 12 54969364 54969364 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:54969364C>T ENST00000243052.3 + 12 1651 c.1215C>T c.(1213-1215)ccC>ccT p.P405P PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Silent_p.P364P|PDE1B_ENST00000550620.1_Silent_p.P385P|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 405 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGGGCCTGCCCTTTTCTCCAC 0.572000 49 173 0 0 0.014410 0 0 SLC28A1 9154 broad.mit.edu 37 15 85447433 85447433 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:85447433C>T ENST00000394573.1 + 7 769 c.567C>T c.(565-567)gtC>gtT p.V189V SLC28A1_ENST00000538177.1_Silent_p.V189V|SLC28A1_ENST00000537624.1_Silent_p.V189V|SLC28A1_ENST00000286749.3_Silent_p.V189V|SLC28A1_ENST00000537703.1_Silent_p.V111V|SLC28A1_ENST00000537216.1_Silent_p.V189V NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 189 V -> I (in A; dbSNP:rs2290272). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCGTGTTCGTCGCTCTCCTCT 0.592000 59 180 0 0 0.014410 0 0 ANAPC4 29945 broad.mit.edu 37 4 25419792 25419792 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:25419792C>T ENST00000315368.3 + 29 2357 c.2215C>T c.(2215-2217)Cgt>Tgt p.R739C ANAPC4_ENST00000510092.1_Missense_Mutation_p.R740C NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 739 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) CTCAAATCTTCGTCATGTGAG 0.328000 30 137 0 0 0.008361 0 0 HAUS6 54801 broad.mit.edu 37 9 19083038 19083038 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:19083038G>A ENST00000380502.3 - 8 1170 c.703C>T c.(703-705)Cgg>Tgg p.R235W HAUS6_ENST00000380496.1_Missense_Mutation_p.R99W NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 235 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CACAAAGACCGAACCTTTGGA 0.328000 20 49 0 0 0.003330 0 0 BAZ2A 11176 broad.mit.edu 37 12 56998046 56998046 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:56998046G>A ENST00000179765.5 - 17 3102 c.2903C>T c.(2902-2904)tCc>tTc p.S968F BAZ2A_ENST00000549884.1_Missense_Mutation_p.S998F|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S1000F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S970F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1000 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 CCTGTAGCTGGACATACTCTC 0.522000 7 21 0 0 0.006214 0 0 OXTR 5021 broad.mit.edu 37 3 8809555 8809555 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:8809555C>T ENST00000316793.3 - 3 943 c.319G>A c.(319-321)Ggg>Agg p.G107R CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 107 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) AGGTCGGGCCCGTAGAAGCGG 0.612000 29 30 0 0 0.013726 0 0 ASTN2 23245 broad.mit.edu 37 9 119903704 119903704 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:119903704C>T ENST00000313400.4 - 4 1169 c.1069G>A c.(1069-1071)Gag>Aag p.E357K ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.E357K|ASTN2_ENST00000361477.3_Intron O75129 ASTN2_HUMAN astrotactin 2 357 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGAAACTCTCCTTGAACTTC 0.592000 13 50 0 0 0.003163 0 0 WSCD2 9671 broad.mit.edu 37 12 108642090 108642090 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:108642090G>A ENST00000332082.4 + 10 2486 c.1668G>A c.(1666-1668)acG>acA p.T556T WSCD2_ENST00000547525.1_Silent_p.T556T|WSCD2_ENST00000261400.3_Silent_p.T576T|WSCD2_ENST00000549903.1_Silent_p.T576T Q2TBF2 WSCD2_HUMAN WSC domain containing 2 556 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GGAACCTAACGGGTGTCCCCG 0.587000 21 49 0 0 0.012319 0 0 SLC26A6 65010 broad.mit.edu 37 3 48663784 48663784 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:48663784G>A ENST00000358747.6 - 19 2319 c.2069C>T c.(2068-2070)cCt>cTt p.P690L SLC26A6_ENST00000455886.2_Missense_Mutation_p.P675L|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P710L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.P711L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P692L|SLC26A6_ENST00000337000.8_Missense_Mutation_p.P603L NM_001040454.1 NP_001035544.1 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) GCTGACCACAGGGCCTGTGGG 0.562000 34 117 0 0 0.003755 0 0 C3orf56 285311 broad.mit.edu 37 3 126915578 126915578 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:126915578C>T ENST00000398112.1 + 2 290 c.50C>T c.(49-51)gCc>gTc p.A17V NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) GTCCGCCGTGCCTTCGAGGCC 0.607000 9 29 0 0 0.006214 0 0 TRIM37 4591 broad.mit.edu 37 17 57134298 57134298 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:57134298G>A ENST00000376149.3 - 13 1580 c.771C>T c.(769-771)ttC>ttT p.F257F TRIM37_ENST00000393066.3_Silent_p.F379F|TRIM37_ENST00000262294.7_Silent_p.F379F|TRIM37_ENST00000393065.2_Silent_p.F345F O94972 TRI37_HUMAN tripartite motif containing 37 379 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AGTCCAAACGGAAAAATCTAT 0.353000 Mulibrey Nanism 23 116 0 0 0.003330 0 0 BAHD1 22893 broad.mit.edu 37 15 40750911 40750911 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:40750911C>T ENST00000561234.1 + 2 507 c.248C>T c.(247-249)cCc>cTc p.P83L BAHD1_ENST00000416165.1_Missense_Mutation_p.P83L|BAHD1_ENST00000560846.1_Missense_Mutation_p.P83L Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 83 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GTGGCCGGTCCCCGGAGTGCA 0.647000 34 110 0 0 0.003271 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168182 1168182 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:1168182C>T ENST00000379198.2 + 1 554 c.524C>T c.(523-525)cCc>cTc p.P175L NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 175 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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) gcccgcgagcccgcgcgccgc 0.751000 7 10 0 0 0.001984 0 0 CCDC60 160777 broad.mit.edu 37 12 119942973 119942973 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:119942973C>T ENST00000327554.2 + 7 1213 c.748C>T c.(748-750)Ccc>Tcc p.P250S RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 250 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) GGGGTCCTCTCCCCAGAGCAG 0.567000 49 133 0 0 0.014410 0 0 IFNA7 3444 broad.mit.edu 37 9 21202135 21202135 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:21202135G>A ENST00000239347.3 - 1 69 c.30C>T c.(28-30)gtC>gtT p.V10V NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 10 V -> A (in Ref. 3; AAA36039). blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GTACCAGCACGACCATCAGTA 0.512000 24 57 0 0 0.003954 0 0 SCAND3 114821 broad.mit.edu 37 6 28541528 28541528 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:28541528C>T ENST00000452236.2 - 4 2755 c.2138G>A c.(2137-2139)aGa>aAa p.R713K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 713 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 gttaacatttcttttattact 0.323000 8 17 0 0 0.003080 0 0 CEBPZ 10153 broad.mit.edu 37 2 37443540 37443540 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:37443540C>T ENST00000234170.5 - 7 2375 c.2230G>A c.(2230-2232)Ggg>Agg p.G744R NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 744 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) AGTGGGTCCCCTGAATACTGA 0.358000 55 143 0 0 0.014410 0 0 SELRC1 65260 broad.mit.edu 37 1 53153720 53153720 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:53153720A>C ENST00000371538.3 - 3 407 c.368T>G c.(367-369)gTt>gGt p.V123G SELRC1_ENST00000486918.1_5'UTR NM_023077.2 NP_075565.2 Q96BR5 SELR1_HUMAN Sel1 repeat containing 1 123 binding breast(1)|lung(3)|prostate(1)|urinary_tract(1) 6 ATCCTCATTAACCTGTCCATC 0.527000 44 107 0 0 0.008740 0 0 CYP4F11 57834 broad.mit.edu 37 19 16040318 16040318 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:16040318G>A ENST00000326742.7 - 2 293 c.292C>T c.(292-294)Ctc>Ttc p.L98F CYP4F11_ENST00000248041.7_Missense_Mutation_p.L98F|CYP4F11_ENST00000402119.3_Missense_Mutation_p.L98F Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 98 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AAAATGAGGAGGGGGAAGGTA 0.552000 69 370 0 0 0.014410 0 0 CAMK2B 816 broad.mit.edu 37 7 44282236 44282236 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:44282236G>A ENST00000395749.2 - 9 695 c.619C>T c.(619-621)Ctg>Ttg p.L207L CAMK2B_ENST00000440254.2_Silent_p.L207L|CAMK2B_ENST00000395747.2_Silent_p.L207L|CAMK2B_ENST00000358707.3_Silent_p.L207L|CAMK2B_ENST00000502837.2_Silent_p.L78L|CAMK2B_ENST00000353625.4_Silent_p.L207L|CAMK2B_ENST00000457475.1_Silent_p.L207L|CAMK2B_ENST00000350811.3_Silent_p.L207L|CAMK2B_ENST00000346990.4_Silent_p.L207L|CAMK2B_ENST00000347193.4_Silent_p.L207L|CAMK2B_ENST00000258682.6_Silent_p.L207L NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 207 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 CCCACGAGCAGGATGTACAGG 0.627000 10 18 0 0 0.010729 0 0 TEAD4 7004 broad.mit.edu 37 12 3121375 3121375 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:3121375C>T ENST00000359864.2 + 5 521 c.331C>T c.(331-333)Cgc>Tgc p.R111C TEAD4_ENST00000397122.2_5'UTR|TEAD4_ENST00000358409.2_Missense_Mutation_p.R111C NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 111 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TCGCAAAGCTCGCGAGATCCA 0.607000 20 51 0 0 0.010504 0 0 KIAA1109 84162 broad.mit.edu 37 4 123145765 123145765 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:123145765C>T ENST00000264501.4 + 23 3099 c.2726C>T c.(2725-2727)tCc>tTc p.S909F KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S909F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S909F Q2LD37 K1109_HUMAN KIAA1109 909 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 GGAAGCGATTCCTTAGAATAC 0.463000 16 67 0 0 0.003163 0 0 DMBX1 127343 broad.mit.edu 37 1 46976664 46976664 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:46976664G>A ENST00000371956.4 + 3 421 c.406G>A c.(406-408)Gaa>Aaa p.E136K DMBX1_ENST00000360032.3_Missense_Mutation_p.E131K NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 136 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CCTGCAGAAGGAACAGCTCCA 0.627000 35 78 0 0 0.013726 0 0 TONSL 4796 broad.mit.edu 37 8 145659461 145659461 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145659461G>A ENST00000409379.3 - 21 3316 c.3287C>T c.(3286-3288)aCc>aTc p.T1096I NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1096 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GCTGGGCATGGTGCCCAGGGC 0.687000 13 47 0 0 0.001855 0 0 TNXB 7148 broad.mit.edu 37 6 32035464 32035464 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32035464C>T ENST00000375244.3 - 18 6719 c.6518G>A c.(6517-6519)gGc>gAc p.G2173D TNXB_ENST00000375247.2_Missense_Mutation_p.G2173D P22105 TENX_HUMAN tenascin XB 2245 Fibronectin type-III 14. 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 AGACACTGGGCCCACGCGCCG 0.647000 58 211 0 0 0.014410 0 0 CASR 846 broad.mit.edu 37 3 122003412 122003412 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:122003412G>A ENST00000498619.1 + 7 3079 c.2641G>A c.(2641-2643)Gag>Aag p.E881K CASR_ENST00000490131.1_Missense_Mutation_p.E871K|CASR_ENST00000296154.5_Missense_Mutation_p.E871K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 871 Interaction with RNF19A. F -> L (in FHH; mutant CASR has a right- shifted dose-response to extracellular calcium concentrations; activated by a higher calcium concentrations than the wild-type). 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) CACCATCGAGGAGGTGCGTTG 0.607000 59 54 0 0 0.014410 0 0 KIAA1217 56243 broad.mit.edu 37 10 24835165 24835165 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:24835165C>T ENST00000376454.3 + 21 5774 c.5744C>T c.(5743-5745)aCc>aTc p.T1915I KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T1236I|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T1321I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T1346I NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 1915 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGCACCAGGACCATCCATACT 0.527000 25 50 0 0 0.004656 0 0 APBA1 320 broad.mit.edu 37 9 72131527 72131527 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:72131527C>T ENST00000265381.4 - 2 822 c.600G>A c.(598-600)gaG>gaA p.E200E NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 200 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CGTCCCCTATCTCCTCGTACA 0.716000 15 32 0 0 0.004007 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142120004 142120004 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142120004G>A ENST00000390377.1 - 0 162 AGGGCCTGTTGATACCAATAA 0.502000 24 69 0 0 0.002780 0 0 DMXL2 23312 broad.mit.edu 37 15 51741329 51741329 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:51741329G>A ENST00000251076.5 - 43 9250 c.8963C>T c.(8962-8964)tCc>tTc p.S2988F RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2989F|DMXL2_ENST00000449909.3_Missense_Mutation_p.S2352F NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2988 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCGAAATATGGACTGCTTAGC 0.428000 24 82 0 0 0.003330 0 0 SEMA6C 10500 broad.mit.edu 37 1 151109466 151109466 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:151109466G>A ENST00000341697.3 - 11 2532 c.841C>T c.(841-843)Ctg>Ttg p.L281L Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 281 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGAAGCTTCAGGAAGGATGTC 0.582000 144 257 0 0 0.014410 0 0 CDH6 1004 broad.mit.edu 37 5 31299721 31299721 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:31299721C>T ENST00000265071.2 + 5 1059 c.794C>T c.(793-795)cCt>cTt p.P265L CDH6_ENST00000514738.1_Missense_Mutation_p.P210L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 265 Cadherin 2. 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 AACGACAACCCTCCCCGATTC 0.428000 25 53 0 0 0.006320 0 0 HTR3D 200909 broad.mit.edu 37 3 183755963 183755963 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:183755963G>A ENST00000382489.3 + 6 815 c.815G>A c.(814-816)aGc>aAc p.S272N HTR3D_ENST00000428798.2_Missense_Mutation_p.S224N|HTR3D_ENST00000453435.1_Missense_Mutation_p.S53N|HTR3D_ENST00000334128.2_Missense_Mutation_p.S99N NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 272 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTGGGCTACAGCGTCTTCCTG 0.507000 62 93 0 0 0.014410 0 0 IRX2 153572 broad.mit.edu 37 5 2749629 2749629 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:2749629C>T ENST00000382611.6 - 2 770 c.522G>A c.(520-522)aaG>aaA p.K174K IRX2_ENST00000302057.5_Silent_p.K174K|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 174 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) TCTTGTTCTCCTTCTTGAGGC 0.602000 75 186 0 0 0.014410 0 0 FRAS1 80144 broad.mit.edu 37 4 79387520 79387520 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:79387520G>A ENST00000264895.6 + 50 7628 c.7188G>A c.(7186-7188)aaG>aaA p.K2396K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2395 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 ACTCCCTCAAGGACCGGTTCA 0.532000 19 42 0 0 0.007413 0 0 DGKB 1607 broad.mit.edu 37 7 14775762 14775762 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:14775762G>A ENST00000403951.2 - 5 645 c.226C>T c.(226-228)Cct>Tct p.P76S DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.P69S|DGKB_ENST00000406247.3_Missense_Mutation_p.P76S|DGKB_ENST00000444700.2_Missense_Mutation_p.P69S|DGKB_ENST00000399322.3_Missense_Mutation_p.P76S|DGKB_ENST00000258767.5_Missense_Mutation_p.P76S|DGKB_ENST00000402815.1_Missense_Mutation_p.P76S Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 76 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) AAATCATCAGGAAGCTCGGCT 0.368000 5 32 0 0 0.001168 0 0 DGKQ 1609 broad.mit.edu 37 4 961348 961348 + Missense_Mutation SNP C C T rs146401678 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:961348C>T ENST00000273814.3 - 8 1049 c.976G>A c.(976-978)Gag>Aag p.E326K NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 326 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGCACCTCCTCGGCACCGGCC 0.682000 33 63 0 0 0.004878 0 0 CHN1 1123 broad.mit.edu 37 2 175742774 175742774 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:175742774C>T ENST00000409900.3 - 6 656 c.343G>A c.(343-345)Gat>Aat p.D115N CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.D115N NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 115 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GTCACCAGATCGTGGATGGAC 0.438000 T TAF15 extraskeletal myxoid chondrosarcoma 32 79 0 0 0.009535 0 0 LALBA 3906 broad.mit.edu 37 12 48962901 48962901 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:48962901G>A ENST00000549817.1 - 2 301 c.256C>T c.(256-258)Cct>Tct p.P86S LALBA_ENST00000301046.2_Missense_Mutation_p.P86S P00709 LALBA_HUMAN lactalbumin, alpha- 86 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 CTTGACTGAGGGACCTGGCTG 0.463000 31 102 0 0 0.012213 0 0 COL18A1 80781 broad.mit.edu 37 21 46916462 46916462 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46916462A>T ENST00000359759.4 + 29 3823 c.3802A>T c.(3802-3804)Act>Tct p.T1268S COL18A1_ENST00000355480.5_Missense_Mutation_p.T1033S|COL18A1_ENST00000400337.2_Missense_Mutation_p.T853S|COL18A1_ENST00000459895.1_3'UTR P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1268 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCCTCCAGGGACTCCTGTTTA 0.647000 49 137 0 0 0.014410 0 0 RNF217 154214 broad.mit.edu 37 6 125397950 125397950 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:125397950C>T ENST00000521654.2 + 4 1429 c.1429C>T c.(1429-1431)Cgc>Tgc p.R477C RNF217_ENST00000359704.2_Missense_Mutation_p.R185C|RNF217_ENST00000275184.6_Missense_Mutation_p.R121C|RNF217_ENST00000560949.1_Missense_Mutation_p.R242C|RNF217_ENST00000368414.2_Missense_Mutation_p.R39C 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 29 45 0 0 0.010818 0 0 KRT10 3858 broad.mit.edu 37 17 38978535 38978535 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:38978535G>A ENST00000269576.5 - 1 312 c.303C>T c.(301-303)atC>atT p.I101I TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 101 Gly-rich.|Head. I -> S (in dbSNP:rs4261597). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) CCCCTCCAAAGATGCCTCCAT 0.572000 46 125 0 0 0.014410 0 0 FLNA 2316 broad.mit.edu 37 X 153594953 153594953 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:153594953G>A ENST00000422373.1 - 7 1290 c.1042C>T c.(1042-1044)Ccc>Tcc p.P348S FLNA_ENST00000344736.4_Missense_Mutation_p.P348S|FLNA_ENST00000360319.4_Missense_Mutation_p.P348S|FLNA_ENST00000369850.3_Missense_Mutation_p.P348S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 348 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCACCTCGGGGACGTACCAG 0.632000 66 87 0 0 0.014410 0 0 MVP 9961 broad.mit.edu 37 16 29853076 29853076 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:29853076C>T ENST00000357402.5 + 9 1489 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S MVP_ENST00000395353.1_Missense_Mutation_p.P451S|MVP_ENST00000452209.2_3'UTR NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 451 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCCCTTGGCGCCCCGGAACAA 0.657000 8 35 0 0 0.004482 0 0 COL20A1 57642 broad.mit.edu 37 20 61939428 61939428 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:61939428G>A ENST00000422202.1 + 6 850 c.782G>A c.(781-783)gGg>gAg p.G261E COL20A1_ENST00000358894.6_Missense_Mutation_p.G254E|COL20A1_ENST00000326996.6_Missense_Mutation_p.G254E|COL20A1_ENST00000435874.1_Missense_Mutation_p.G261E Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 254 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TACAAGGGGGGGAACACGTTC 0.627000 13 66 0 0 0.003163 0 0 OR10H3 26532 broad.mit.edu 37 19 15852409 15852409 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15852409C>T ENST00000305892.1 + 1 207 c.207C>T c.(205-207)atC>atT p.I69I NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 69 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 CCCTCTCCATCTCTGAGATTC 0.502000 106 480 0 0 0.014410 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651022 146651022 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:146651022C>T ENST00000607149.1 + 0 350 TGTGCCTTCTCCATATGAAGT 0.418000 49 73 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9089200 9089200 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9089200G>A ENST00000397910.4 - 1 2818 c.2615C>T c.(2614-2616)cCa>cTa p.P872L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 872 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 AGACACAGATGGATTCGAAGT 0.488000 23 48 0 0 0.014323 0 0 MEIS2 4212 broad.mit.edu 37 15 37329079 37329079 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:37329079T>C ENST00000338564.5 - 9 1282 c.836A>G c.(835-837)aAa>aGa p.K279R MEIS2_ENST00000382766.2_Missense_Mutation_p.K279R|MEIS2_ENST00000397620.2_Missense_Mutation_p.K191R|MEIS2_ENST00000340545.5_Missense_Mutation_p.K266R|MEIS2_ENST00000559085.1_Missense_Mutation_p.K266R|MEIS2_ENST00000561208.1_Missense_Mutation_p.K279R|MEIS2_ENST00000397624.3_Missense_Mutation_p.K191R|MEIS2_ENST00000424352.2_Missense_Mutation_p.K279R|MEIS2_ENST00000219869.9_Missense_Mutation_p.K133R|MEIS2_ENST00000444725.1_Missense_Mutation_p.K279R|MEIS2_ENST00000557796.2_Missense_Mutation_p.K266R|MEIS2_ENST00000559561.1_Missense_Mutation_p.K279R NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 279 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) AATGCCTCTTTTCTTCTGGCG 0.388000 33 83 0 0 0.013726 0 0 KLF15 28999 broad.mit.edu 37 3 126071118 126071118 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:126071118G>A ENST00000296233.3 - 2 878 c.648C>T c.(646-648)ccC>ccT p.P216P NM_014079.3 NP_054798.1 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 216 nucleus DNA binding|zinc ion binding endometrium(1)|lung(7)|ovary(2)|skin(2) 12 GBM - Glioblastoma multiforme(114;0.147) ACACTGGGATGGGGCCATCAG 0.677000 13 25 0 0 0.002450 0 0 TOP2A 7153 broad.mit.edu 37 17 38563094 38563094 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:38563094G>A ENST00000423485.1 - 14 1885 c.1727C>T c.(1726-1728)cCc>cTc p.P576L NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 576 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CTTTACAATGGGAGTGATAAA 0.418000 9 17 0 0 0.004482 0 0 IRX1 79192 broad.mit.edu 37 5 3599405 3599405 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:3599405C>T ENST00000302006.3 + 2 395 c.343C>T c.(343-345)Ccg>Tcg p.P115S CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 115 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 CCACACGGCGCCGGCTTATTA 0.652000 33 76 0 0 0.004289 0 0 HERC2 8924 broad.mit.edu 37 15 28458946 28458946 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:28458946G>A ENST00000261609.7 - 42 6836 c.6728C>T c.(6727-6729)aCc>aTc p.T2243I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2243 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAACTGCACGGTGATTTTGCC 0.512000 33 139 0 0 0.006999 0 0 NHS 4810 broad.mit.edu 37 X 17746877 17746877 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:17746877T>C ENST00000380060.3 + 7 4606 c.4268T>C c.(4267-4269)tTa>tCa p.L1423S NHS_ENST00000398097.3_Missense_Mutation_p.L1267S NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1423 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ACTGAGGATTTATTTGCAGTC 0.448000 49 59 0 0 0.014410 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307647 39307647 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:39307647G>A ENST00000541347.1 - 2 593 c.354C>T c.(352-354)ttC>ttT p.F118F CX3CR1_ENST00000358309.3_Silent_p.F150F|CX3CR1_ENST00000399220.2_Silent_p.F118F|CX3CR1_ENST00000542107.1_Silent_p.F118F NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 118 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CGGTGATGAAGAATATGCTTC 0.498000 99 142 0 0 0.014410 0 0 NOL4 8715 broad.mit.edu 37 18 31523038 31523038 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:31523038C>T ENST00000261592.5 - 9 1830 c.1533G>A c.(1531-1533)gaG>gaA p.E511E NOL4_ENST00000535384.1_Silent_p.E226E|NOL4_ENST00000535475.1_Silent_p.E292E|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Silent_p.E437E|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 511 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 CCTGCTGTCTCTCCAGACGCA 0.438000 15 19 0 0 0.006122 0 0 IVD 3712 broad.mit.edu 37 15 40710397 40710397 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:40710397G>A ENST00000249760.2 + 12 1550 c.1207G>A c.(1207-1209)Ggg>Agg p.G403R IVD_ENST00000479013.2_Missense_Mutation_p.G376R|IVD_ENST00000487418.2_Missense_Mutation_p.G406R NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 403 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GTATGAGATAGGGGCTGGGAC 0.557000 45 120 0 0 0.013114 0 0 AMPH 273 broad.mit.edu 37 7 38500937 38500937 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:38500937G>A ENST00000356264.2 - 11 1178 c.963C>T c.(961-963)atC>atT p.I321I AMPH_ENST00000428293.2_Silent_p.I321I|AMPH_ENST00000325590.5_Silent_p.I321I NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 321 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CAAAGAAACTGATGATGTTCT 0.468000 26 118 0 0 0.007291 0 0 C10ORF32 119032 broad.mit.edu 37 10 104620124 104620124 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:104620124G>A ENST00000299353.6 + 2 192 c.177G>A c.(175-177)caG>caA p.Q59Q C10orf32_ENST00000369883.3_Silent_p.Q59Q|C10orf32_ENST00000339834.5_Silent_p.Q59Q TGGTACTCCAGGAAGATGCCA 0.383000 27 22 0 0 0.003271 0 0 PLCH2 9651 broad.mit.edu 37 1 2415968 2415968 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:2415968G>A ENST00000449969.1 + 5 807 c.646G>A c.(646-648)Gac>Aac p.D216N PLCH2_ENST00000378486.3_Missense_Mutation_p.D243N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.D243N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D243N|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 243 EF-hand 2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CACCCGCCGGGACCTCTACCT 0.597000 21 50 0 0 0.014323 0 0 ERAL1 26284 broad.mit.edu 37 17 27183392 27183392 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:27183392C>T ENST00000254928.5 + 2 491 c.394C>T c.(394-396)Cag>Tag p.Q132* ERAL1_ENST00000578001.1_3'UTR NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 132 G. ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) ACTCTCCAACCAGCTACTGGG 0.537000 71 208 0 0 0.014410 0 0 FBXO24 26261 broad.mit.edu 37 7 100192111 100192111 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100192111A>G ENST00000241071.6 + 6 1221 c.899A>G c.(898-900)cAc>cGc p.H300R PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.H286R|FBXO24_ENST00000465843.1_Missense_Mutation_p.H286R|FBXO24_ENST00000427939.2_Missense_Mutation_p.H338R|FBXO24_ENST00000468962.1_Missense_Mutation_p.H288R|PCOLCE-AS1_ENST00000544873.1_RNA NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 300 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TACCTGCCTCACCTGCGCGTG 0.597000 24 71 0 0 0.014323 0 0 ZNF679 168417 broad.mit.edu 37 7 63726757 63726757 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:63726757T>A ENST00000421025.1 + 5 1015 c.746T>A c.(745-747)tTt>tAt p.F249Y ZNF679_ENST00000255746.4_Missense_Mutation_p.F249Y NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 249 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 GGCAAAGCTTTTACCTGGTCC 0.433000 5 32 0 0 0.001984 0 0 AFP 174 broad.mit.edu 37 4 74318255 74318255 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:74318255C>T ENST00000395792.2 + 12 1666 c.1566C>T c.(1564-1566)gtC>gtT p.V522V AFP_ENST00000226359.2_Silent_p.V522V NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 522 Albumin 3. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAACATATGTCCCTCCTGCAT 0.468000 Alpha-Fetoprotein, Hereditary Persistence of 8 57 0 0 0.004482 0 0 OR5D13 390142 broad.mit.edu 37 11 55541558 55541558 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:55541558C>T ENST00000361760.1 + 1 645 c.645C>T c.(643-645)atC>atT p.I215I NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCCTAATTATCATTCTGACAT 0.438000 19 41 0 0 0.010504 0 0 USP10 9100 broad.mit.edu 37 16 84778881 84778881 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:84778881C>T ENST00000219473.7 + 4 907 c.794C>T c.(793-795)tCa>tTa p.S265L USP10_ENST00000570191.1_Missense_Mutation_p.S269L NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 265 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 GACACCCTGTCAAGGACAGCT 0.592000 8 32 0 0 0.003080 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748745 126748745 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:126748745C>T ENST00000393409.2 + 27 4899 c.4899C>T c.(4897-4899)ccC>ccT p.P1633P PLXNA1_ENST00000251772.4_Silent_p.P1610P NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1633 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCAGCAGCCCCGACAGCCTGC 0.701000 22 72 0 0 0.012319 0 0 STK38 11329 broad.mit.edu 37 6 36483160 36483160 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:36483160G>A ENST00000229812.7 - 7 909 c.624C>T c.(622-624)ttC>ttT p.F208F NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 208 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCTGTGGATGAATCCAAGTT 0.428000 50 103 0 0 0.014410 0 0 DHX40 79665 broad.mit.edu 37 17 57684448 57684448 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:57684448C>T ENST00000451169.2 + 21 2470 c.2111C>T c.(2110-2112)tCc>tTc p.S704F DHX40_ENST00000425628.3_Missense_Mutation_p.S675F|DHX40_ENST00000251241.4_Missense_Mutation_p.S752F Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 752 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GATGACAAATCCATATCTGAT 0.413000 42 126 0 0 0.011902 0 0 JUP 3728 broad.mit.edu 37 17 39777872 39777872 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39777872C>T ENST00000540235.1 - 7 1283 c.1284G>A c.(1282-1284)aaG>aaA p.K428K KRT17_ENST00000311208.8_Silent_p.K269K 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) CCTCGGCATCCTTGCGGTTCT 0.597000 52 160 0 0 0.014410 0 0 OPTC 26254 broad.mit.edu 37 1 203465352 203465352 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:203465352C>T ENST00000367222.2 + 2 335 c.219C>T c.(217-219)gaC>gaT p.D73D NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 73 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) ATTATGGGGACCAACTCCCCG 0.552000 32 66 0 0 0.008361 0 0 TCHP 84260 broad.mit.edu 37 12 110352349 110352349 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:110352349G>A ENST00000312777.5 + 11 1451 c.1237G>A c.(1237-1239)Gag>Aag p.E413K TCHP_ENST00000405876.4_Missense_Mutation_p.E413K NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 413 Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 TCGAAATCTTGAGGAGGTGAG 0.522000 43 65 0 0 0.007835 0 0 ADAM30 11085 broad.mit.edu 37 1 120438357 120438357 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:120438357G>A ENST00000369400.1 - 1 761 c.603C>T c.(601-603)caC>caT p.H201H NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 201 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.H201H(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AGTACTTTGGGTGTTTATAGG 0.403000 243 948 0 0 0.014410 0 0 TGM7 116179 broad.mit.edu 37 15 43574732 43574732 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:43574732G>A ENST00000452443.2 - 8 1095 c.1091C>T c.(1090-1092)cCc>cTc p.P364L NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 364 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGTCTGCTGGGGAGTGGGGTC 0.597000 5 10 0 0 0.001168 0 0 IGHM 3507 broad.mit.edu 37 14 106321847 106321847 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106321847C>T ENST00000390559.2 - 0 386 TGAGCTTGGACTTGCGGGGGT 0.657000 25 55 0 0 0.003954 0 0 MYH2 4620 broad.mit.edu 37 17 10432295 10432295 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10432295G>A ENST00000245503.5 - 27 3840 c.3456C>T c.(3454-3456)atC>atT p.I1152I CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1152I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1152 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 GCCTCTCGCTGATCTCCTCCA 0.622000 55 115 0 0 0.014410 0 0 SLIT3 6586 broad.mit.edu 37 5 168093669 168093669 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:168093669G>A ENST00000519560.1 - 36 4781 c.4362C>T c.(4360-4362)gtC>gtT p.V1454V CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.V1461V NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1454 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) TCACCTCTCGGACTACTTGTC 0.597000 35 66 0 0 0.006999 0 0 THPO 7066 broad.mit.edu 37 3 184090594 184090594 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:184090594T>C ENST00000204615.7 - 6 983 c.769A>G c.(769-771)Act>Gct p.T257A EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.T253A|THPO_ENST00000421442.2_Missense_Mutation_p.N218S NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 257 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGTCCACGAGTTCCATTCAAG 0.567000 130 176 0 0 0.014410 0 0 NPAP1 23742 broad.mit.edu 37 15 24921462 24921462 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:24921462G>A ENST00000329468.2 + 1 922 c.448G>A c.(448-450)Gag>Aag p.E150K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGAGGAGACCGAGGTGTGGGC 0.627000 27 72 0 0 0.010818 0 0 KCTD19 146212 broad.mit.edu 37 16 67325697 67325697 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67325697C>T ENST00000304372.5 - 13 2317 c.2262G>A c.(2260-2262)gtG>gtA p.V754V NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 754 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTAGGCTGTCCACCTCACTGG 0.517000 22 52 0 0 0.003330 0 0 ALOX12B 242 broad.mit.edu 37 17 7984078 7984078 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7984078C>T ENST00000319144.4 - 5 808 c.548G>A c.(547-549)gGa>gAa p.G183E AC129492.6_ENST00000399413.3_3'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 183 Lipoxygenase. epidermis development|leukotriene biosynthetic process arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 16 AATTGGGAATCCCGGAATATA 0.602000 Multiple Myeloma(8;0.094) OREG0024153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 113 0 0 0.014410 0 0 QRFPR 84109 broad.mit.edu 37 4 122250649 122250649 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:122250649C>T ENST00000394427.2 - 6 1527 c.1116G>A c.(1114-1116)aaG>aaA p.K372K QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 372 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 ACTTTGCTTTCTTCCGCATCA 0.388000 31 222 0 0 0.012213 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256413 15256413 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:15256413C>T ENST00000378116.4 - 8 1180 c.1174G>A c.(1174-1176)Gaa>Aaa p.E392K FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 392 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CTCATCAGTTCCTTCGTGCCG 0.602000 55 76 0 0 0.014410 0 0 TANC2 26115 broad.mit.edu 37 17 61498783 61498783 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:61498783C>T ENST00000424789.2 + 25 5444 c.5440C>T c.(5440-5442)Cct>Tct p.P1814S TANC2_ENST00000389520.4_Missense_Mutation_p.P1824S|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1814 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CCCACTGAAACCTGCATATGA 0.537000 27 46 0 0 0.003954 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:80328367G>A ENST00000358842.3 - 1 1005 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 330 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 CTTAGCCAACGAATAACAGCA 0.428000 40 120 0 0 0.008740 0 0 FAM83E 54854 broad.mit.edu 37 19 49107049 49107049 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:49107049G>A ENST00000263266.3 - 4 1067 c.878C>T c.(877-879)cCt>cTt p.P293L NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 293 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) GGGGGGCGCAGGTGGGAGCGG 0.721000 12 16 0 0 0.010729 0 0 MED13L 23389 broad.mit.edu 37 12 116457155 116457155 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:116457155G>A ENST00000281928.3 - 7 1089 c.883C>T c.(883-885)Cct>Tct p.P295S NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 295 PQSVA -> SISLI (in Ref. 5; BAA82977). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ACACTCTGAGGAACCGGGATG 0.507000 24 68 0 0 0.006320 0 0 ARAP2 116984 broad.mit.edu 37 4 36168570 36168570 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:36168570G>A ENST00000303965.4 - 10 2446 c.1957C>T c.(1957-1959)Ccc>Tcc p.P653S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 653 PH 2. 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 CTCCTGTAGGGAGTGATTATT 0.358000 8 45 0 0 0.003080 0 0 PLCB1 23236 broad.mit.edu 37 20 8782748 8782748 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:8782748C>T ENST00000378641.3 + 32 3944 c.3469C>T c.(3469-3471)Ccc>Tcc p.P1157S PLCB1_ENST00000378637.2_Missense_Mutation_p.P1157S|PLCB1_ENST00000338037.6_Intron NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 0 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCATGAGGATCCCTCTGTTTC 0.512000 28 56 0 0 0.010818 0 0 DNAH14 127602 broad.mit.edu 37 1 225142737 225142737 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:225142737G>A ENST00000430092.1 + 3 369 c.154G>A c.(154-156)Gaa>Aaa p.E52K DNAH14_ENST00000366850.3_Missense_Mutation_p.E52K|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000400952.3_Missense_Mutation_p.E52K|DNAH14_ENST00000439375.2_Missense_Mutation_p.E52K|DNAH14_ENST00000366848.1_Missense_Mutation_p.E52K|DNAH14_ENST00000366849.1_Missense_Mutation_p.E52K NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 229 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 AGCAGAAAAGGAAACATTGGA 0.299000 47 113 0 0 0.014410 0 0 MGAT3 4248 broad.mit.edu 37 22 39884213 39884213 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:39884213C>T ENST00000341184.6 + 2 1076 c.861C>T c.(859-861)atC>atT p.I287I 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 287 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) ACGGCTGGATCGCCGACGACT 0.647000 85 264 0 0 0.014410 0 0 OR4S1 256148 broad.mit.edu 37 11 48328225 48328225 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:48328225T>A ENST00000319988.1 + 1 451 c.451T>A c.(451-453)Ttc>Atc p.F151I NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 GTTAGCTGGCTTCCTGCATTC 0.557000 50 65 0 0 0.014410 0 0 RAB5A 5868 broad.mit.edu 37 3 20017217 20017217 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:20017217C>T ENST00000273047.4 + 3 824 c.288C>T c.(286-288)gcC>gcT p.A96A RAB5A_ENST00000422242.1_Silent_p.A82A NM_004162.4 NP_004153.2 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 96 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity lung(1)|urinary_tract(1) 2 CACAAGCAGCCATAGTTGTAT 0.378000 27 97 0 0 0.006320 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898789 48898789 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:48898789G>A ENST00000394754.1 + 10 3525 c.3411G>A c.(3409-3411)acG>acA p.T1137T STON1-GTF2A1L_ENST00000309827.2_Silent_p.T1137T|GTF2A1L_ENST00000430487.2_Silent_p.T399T|STON1-GTF2A1L_ENST00000405008.1_Silent_p.T1137T|GTF2A1L_ENST00000403751.3_Silent_p.T433T|STON1-GTF2A1L_ENST00000402114.2_Silent_p.T1137T|STON1-GTF2A1L_ENST00000394751.3_Silent_p.T1090T NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1090 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTTTGACACGGATAATGTTA 0.348000 28 128 0 0 0.003755 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172237 21172237 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21172237G>A ENST00000421593.2 + 2 141 c.141G>A c.(139-141)ccG>ccA p.P47P LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) p.P47P(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TACACAGACCGAAGTTAATTG 0.328000 16 35 0 0 0.003163 0 0 MEI1 150365 broad.mit.edu 37 22 42172184 42172184 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:42172184G>A ENST00000401548.3 + 21 2663 c.2623G>A c.(2623-2625)Gat>Aat p.D875N MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.D243N|MEI1_ENST00000540880.1_Missense_Mutation_p.D193N NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 875 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 GAGGAATGAGGATATCCAAGT 0.562000 45 109 0 0 0.013114 0 0 KLHL14 57565 broad.mit.edu 37 18 30260388 30260388 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:30260388C>T ENST00000359358.4 - 6 1851 c.1413G>A c.(1411-1413)ggG>ggA p.G471G NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 471 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TGTATATTTTCCCATTGTGCA 0.458000 32 53 0 0 0.012213 0 0 OSMR 9180 broad.mit.edu 37 5 38881752 38881752 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:38881752G>A ENST00000274276.3 + 4 706 c.304G>A c.(304-306)Gag>Aag p.E102K OSMR_ENST00000502536.1_Missense_Mutation_p.E102K NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 102 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) CTGGGAATCTGAGCTCCCTTT 0.463000 24 81 0 0 0.003330 0 0 SLC26A8 116369 broad.mit.edu 37 6 35945086 35945086 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:35945086C>T ENST00000490799.1 - 9 1421 c.1068G>A c.(1066-1068)aaG>aaA p.K356K SLC26A8_ENST00000355574.2_Silent_p.K356K|SLC26A8_ENST00000394602.2_Silent_p.K251K NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 356 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 GTAAAATTATCTTGGGAAGAA 0.413000 39 126 0 0 0.009718 0 0 PNPLA6 10908 broad.mit.edu 37 19 7621579 7621579 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:7621579C>T ENST00000221249.6 + 29 3566 c.3135C>T c.(3133-3135)atC>atT p.I1045I PNPLA6_ENST00000545201.2_Silent_p.I1018I|PNPLA6_ENST00000414982.3_Silent_p.I1093I|PNPLA6_ENST00000450331.3_Silent_p.I1045I|PNPLA6_ENST00000600737.1_Silent_p.I1083I NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 1084 Patatin. 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 CCACAGATATCACCGCCTCAG 0.667000 35 61 0 0 0.003271 0 0 FAM129A 116496 broad.mit.edu 37 1 184764306 184764306 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:184764306C>T ENST00000367511.3 - 14 2785 c.2592G>A c.(2590-2592)gaG>gaA p.E864E FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 864 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCCCTCCCATCTCTTCTTGTT 0.577000 44 141 0 0 0.009718 0 0 SPATC1 375686 broad.mit.edu 37 8 145095814 145095814 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145095814C>T ENST00000377470.3 + 3 1214 c.1112C>T c.(1111-1113)tCc>tTc p.S371F SPATC1_ENST00000447830.2_Missense_Mutation_p.S371F NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 371 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATGCATAATTCCCCAACCCAG 0.642000 37 75 0 0 0.005524 0 0 DSTYK 25778 broad.mit.edu 37 1 205116799 205116799 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:205116799G>A ENST00000367162.3 - 13 2707 c.2677C>T c.(2677-2679)Ccc>Tcc p.P893S DSTYK_ENST00000367161.3_Missense_Mutation_p.P848S|DSTYK_ENST00000367160.4_Missense_Mutation_p.P552S NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 893 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 CTCTTCAAGGGGTCGCCATCC 0.542000 68 139 0 0 0.014410 0 0 ATP1A4 480 broad.mit.edu 37 1 160143376 160143376 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:160143376C>T ENST00000368081.4 + 13 2331 c.1860C>T c.(1858-1860)atC>atT p.I620I ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 620 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCAGGTGATCATGGTAACAG 0.527000 50 159 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179590353 179590353 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179590353G>A ENST00000589042.1 - 71 20802 c.20578C>T c.(20578-20580)Ctg>Ttg p.L6860L TTN_ENST00000591111.1_Silent_p.L6543L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L5616L|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6543 Ig-like 50. 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) AGGCTGTTCAGTTTGGAGACA 0.438000 10 35 0 0 0.013537 0 0 FOXN4 121643 broad.mit.edu 37 12 109717605 109717605 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:109717605G>A ENST00000299162.5 - 10 1529 c.1425C>T c.(1423-1425)tcC>tcT p.S475S FOXN4_ENST00000355216.1_Silent_p.S295S NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 475 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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 large_intestine(5)|lung(9)|ovary(2) 16 AGTCTGGGAAGGACTGGTCGC 0.642000 6 26 0 0 0.004482 0 0 FCGBP 8857 broad.mit.edu 37 19 40433120 40433120 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:40433120C>T ENST00000221347.6 - 2 1156 c.1149G>A c.(1147-1149)tgG>tgA p.W383* NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 383 IgGFc-binding. 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) GCACAGCCTCCCAGGTGAGCT 0.617000 37 27 0 0 0.009718 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907726 164907726 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:164907726G>A ENST00000475390.1 - 2 1336 c.893C>T c.(892-894)tCg>tTg p.S298L SLITRK3_ENST00000241274.3_Missense_Mutation_p.S298L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 298 integral to membrane p.S298L(2) 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 ACTTGATGACGAATGTGGAAT 0.433000 HNSCC(40;0.11) 96 127 0 0 0.014410 0 0 ZNF189 7743 broad.mit.edu 37 9 104171062 104171062 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:104171062C>T ENST00000374861.3 + 3 1254 c.970C>T c.(970-972)Cac>Tac p.H324Y ZNF189_ENST00000339664.2_Missense_Mutation_p.H338Y|ZNF189_ENST00000259395.4_Missense_Mutation_p.H296Y NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 338 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CCAAAAAATTCACACTGGCGA 0.413000 26 86 0 0 0.003954 0 0 HS3ST6 64711 broad.mit.edu 37 16 1961657 1961657 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:1961657C>T ENST00000454677.2 - 2 1079 c.1014G>A c.(1012-1014)caG>caA p.Q338Q HS3ST6_ENST00000443547.1_Silent_p.Q290Q|HS3ST6_ENST00000293937.3_Silent_p.Q321Q C9JH64 C9JH64_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 6 290 endometrium(2)|lung(2) 4 GGTAGAACTCCTGCAGGCGCC 0.692000 8 21 0 0 0.003080 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155935123 155935123 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:155935123G>A ENST00000368316.1 - 10 940 c.470C>T c.(469-471)aCc>aTc p.T157I ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T184I|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T157I|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.T185I|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.T184I Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 184 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CACGGATAGGGTTCGGTTCCG 0.592000 42 94 0 0 0.014410 0 0 FCRL1 115350 broad.mit.edu 37 1 157789804 157789804 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:157789804C>T ENST00000358292.3 - 1 75 c.24G>A c.(22-24)ttG>ttA p.L8L FCRL1_ENST00000368176.3_Silent_p.L8L|FCRL1_ENST00000491942.1_Silent_p.L8L NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 8 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) CACCACAGATCAACAGCAACA 0.527000 21 86 0 0 0.003330 0 0 DYSF 8291 broad.mit.edu 37 2 71778790 71778790 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:71778790G>A ENST00000258104.3 + 19 1969 c.1692G>A c.(1690-1692)ctG>ctA p.L564L DYSF_ENST00000409582.3_Silent_p.L581L|DYSF_ENST00000409366.1_Silent_p.L565L|DYSF_ENST00000409762.1_Silent_p.L581L|DYSF_ENST00000413539.2_Silent_p.L595L|DYSF_ENST00000409651.1_Silent_p.L596L|DYSF_ENST00000409744.1_Silent_p.L551L|DYSF_ENST00000394120.2_Silent_p.L565L|DYSF_ENST00000429174.2_Silent_p.L564L|DYSF_ENST00000410041.1_Silent_p.L582L|DYSF_ENST00000410020.3_Silent_p.L582L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 564 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 AGACCAAGCTGGTGGAGCACA 0.652000 14 62 0 0 0.010504 0 0 MNT 4335 broad.mit.edu 37 17 2298631 2298631 + Missense_Mutation SNP G G A rs138518103 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:2298631G>A ENST00000174618.4 - 2 596 c.191C>T c.(190-192)cCc>cTc p.P64L NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 64 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) cagaggcaggggtggCGCCTC 0.657000 38 56 0 0 0.010771 0 0 FGG 2266 broad.mit.edu 37 4 155528085 155528085 + Missense_Mutation SNP G G C rs121913087 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:155528085G>C ENST00000404648.3 - 8 1140 c.901C>G c.(901-903)Cgc>Ggc p.R301G FGG_ENST00000336098.3_Missense_Mutation_p.R301G|FGG_ENST00000407946.1_Missense_Mutation_p.R309G|FGG_ENST00000405164.1_Missense_Mutation_p.R309G NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 301 Fibrinogen C-terminal. R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa).|R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4). 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) TATGTTAGGCGGTACTTGTCA 0.478000 34 64 0 0 0.003271 0 0 FZD7 8324 broad.mit.edu 37 2 202900792 202900792 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:202900792C>T ENST00000286201.1 + 1 1483 c.1422C>T c.(1420-1422)ttC>ttT p.F474F NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 474 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 TCGGCGTCTTCAGCGTGCTCT 0.622000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 99 0 0 0.007835 0 0 KRT19 3880 broad.mit.edu 37 17 39684284 39684284 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39684284G>A ENST00000361566.3 - 1 276 c.216C>T c.(214-216)tcC>tcT p.S72S NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) GCAGCCCGTCGGACGCGGTCA 0.716000 34 106 0 0 0.003271 0 0 IMPG2 50939 broad.mit.edu 37 3 100986371 100986371 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:100986371G>A ENST00000193391.7 - 9 1079 c.892C>T c.(892-894)Ccc>Tcc p.P298S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 298 SEA 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTTTCCTTGGGGGACCTGAAA 0.363000 23 96 0 0 0.005443 0 0 GDF6 392255 broad.mit.edu 37 8 97156938 97156938 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:97156938C>T ENST00000287020.5 - 2 1320 c.1221G>A c.(1219-1221)atG>atA p.M407I NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 407 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) CCATGGAGTTCATCAGCGTCT 0.612000 18 48 0 0 0.010504 0 0 MUC16 94025 broad.mit.edu 37 19 9076568 9076568 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9076568G>A ENST00000397910.4 - 3 11081 c.10878C>T c.(10876-10878)gaC>gaT p.D3626D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3627 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 TAGACATGGAGTCTAATTCAG 0.448000 33 70 0 0 0.013726 0 0 CYP3A43 64816 broad.mit.edu 37 7 99434114 99434114 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:99434114G>A ENST00000354829.2 + 2 213 c.110G>A c.(109-111)gGa>gAa p.G37E CYP3A43_ENST00000417625.1_Missense_Mutation_p.G37E|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G37E|CYP3A43_ENST00000421837.2_Missense_Mutation_p.G37E|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Missense_Mutation_p.G37E|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G37E NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 37 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) AAGAAGCTGGGAATTCCTGGG 0.393000 45 62 0 0 0.014410 0 0 ITPR1 3708 broad.mit.edu 37 3 4759072 4759072 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:4759072G>A ENST00000302640.8 + 39 5430 c.5080G>A c.(5080-5082)Gat>Aat p.D1694N ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1694N|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D1709N NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1709 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGATGAATTGGATAATGCTGA 0.393000 179 254 0 0 0.014410 0 0 PGBD1 84547 broad.mit.edu 37 6 28251876 28251876 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:28251876C>T ENST00000405948.2 + 2 706 c.286C>T c.(286-288)Ctg>Ttg p.L96L PGBD1_ENST00000259883.3_Silent_p.L96L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 96 SCAN box. viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 CCTGACCATCCTGCCCAAGGA 0.542000 51 133 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9005205 9005205 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9005205G>A ENST00000397910.4 - 47 40075 c.39872C>T c.(39871-39873)cCc>cTc p.P13291L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13293 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 GCTGGTGGTGGGCACAGAGCT 0.517000 10 51 0 0 0.010729 0 0 TP63 8626 broad.mit.edu 37 3 189582089 189582089 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:189582089G>A ENST00000264731.3 + 5 737 c.648G>A c.(646-648)atG>atA p.M216I TP63_ENST00000418709.2_Missense_Mutation_p.M216I|TP63_ENST00000392460.3_Missense_Mutation_p.M216I|TP63_ENST00000440651.2_Missense_Mutation_p.M216I|TP63_ENST00000392463.2_Missense_Mutation_p.M122I|TP63_ENST00000456148.1_Missense_Mutation_p.M122I|TP63_ENST00000437221.1_Missense_Mutation_p.M122I|TP63_ENST00000449992.1_Missense_Mutation_p.M37I|TP63_ENST00000354600.5_Missense_Mutation_p.M122I|TP63_ENST00000382063.4_Missense_Mutation_p.M131I|TP63_ENST00000392461.3_Missense_Mutation_p.M122I|TP63_ENST00000320472.5_Missense_Mutation_p.M216I NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 216 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) TCAAGGTGATGACCCCACCTC 0.527000 HNSCC(45;0.13) 37 163 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179599176 179599176 + Silent SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179599176A>C ENST00000589042.1 - 52 15599 c.15375T>G c.(15373-15375)tcT>tcG p.S5125S TTN_ENST00000591111.1_Silent_p.S4808S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S3881S|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4808 Ig-like 31. 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) GAGACTTCTGAGAAAACAATC 0.388000 32 86 0 0 0.013726 0 0 OR2L2 26246 broad.mit.edu 37 1 248202081 248202081 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248202081G>A ENST00000366479.2 + 1 608 c.512G>A c.(511-513)aGa>aAa p.R171K OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TGCAAGTCCAGAGCCATCAAT 0.438000 77 233 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38980315 38980315 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:38980315G>A ENST00000359357.3 + 89 13219 c.12965G>A c.(12964-12966)tGg>tAg p.W4322* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4286* 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 CTGGGCTTCTGGTTCACTGAA 0.443000 71 133 0 0 0.014410 0 0 PCDH9 5101 broad.mit.edu 37 13 67800395 67800395 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:67800395G>A ENST00000544246.1 - 2 2869 c.2178C>T c.(2176-2178)ttC>ttT p.F726F PCDH9_ENST00000456367.1_Silent_p.F726F|PCDH9_ENST00000377865.2_Silent_p.F726F|PCDH9_ENST00000377861.3_Silent_p.F726F|PCDH9_ENST00000328454.5_Silent_p.F726F NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 726 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GATCAATCCGGAATAAGCCTT 0.438000 49 81 0 0 0.014410 0 0 TNXB 7148 broad.mit.edu 37 6 32030250 32030250 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32030250C>T ENST00000375244.3 - 20 7053 c.6852G>A c.(6850-6852)aaG>aaA p.K2284K TNXB_ENST00000375247.2_Silent_p.K2284K P22105 TENX_HUMAN tenascin XB 2353 Fibronectin type-III 15. 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 TTTCTTCATCCTTTCCTGGGG 0.582000 86 266 0 0 0.014410 0 0 EPHA8 2046 broad.mit.edu 37 1 22903352 22903352 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:22903352G>A ENST00000166244.3 + 3 874 c.802G>A c.(802-804)Gag>Aag p.E268K EPHA8_ENST00000538803.1_Missense_Mutation_p.E268K|EPHA8_ENST00000374644.4_Missense_Mutation_p.E268K NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 268 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CGGCTACGAGGAGCGGCGGGA 0.687000 13 45 0 0 0.013537 0 0 RDH16 8608 broad.mit.edu 37 12 57348915 57348915 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57348915G>A ENST00000398138.3 - 2 1203 c.347C>T c.(346-348)tCc>tTc p.S116F RDH16_ENST00000360752.4_Intron NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 116 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 CGTGGGCAAGGAGATGCCAGC 0.552000 14 50 0 0 0.003163 0 0 AKAP9 10142 broad.mit.edu 37 7 91660864 91660864 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:91660864C>T ENST00000359028.2 + 17 4545 c.4320C>T c.(4318-4320)atC>atT p.I1440I AKAP9_ENST00000358100.2_Silent_p.I1440I|AKAP9_ENST00000356239.3_Silent_p.I1428I Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1440 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) AAACAAATATCGTTAAGTTGC 0.289000 T BRAF papillary thyroid 70 174 0 0 0.014410 0 0 PTPRO 5800 broad.mit.edu 37 12 15713206 15713206 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:15713206C>T ENST00000281171.4 + 17 3037 c.2707C>T c.(2707-2709)Cct>Tct p.P903S PTPRO_ENST00000445537.2_Missense_Mutation_p.P92S|PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.P92S|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000348962.2_Intron NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 903 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) TTATATTAATCCTTGGTAAGT 0.303000 14 43 0 0 0.001855 0 0 TBX4 9496 broad.mit.edu 37 17 59560748 59560748 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:59560748G>A ENST00000393853.4 + 9 1675 c.1512G>A c.(1510-1512)agG>agA p.R504R TBX4_ENST00000240335.1_Silent_p.R503R P57082 TBX4_HUMAN T-box 4 503 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R503R(1) 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 GGTGTGAGAGGAAGCCACCCT 0.547000 29 67 0 0 0.008361 0 0 NUMB 8650 broad.mit.edu 37 14 73751034 73751034 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:73751034G>A ENST00000556772.1 - 4 2559 c.272C>T c.(271-273)aCt>aTt p.T91I NUMB_ENST00000554546.1_Missense_Mutation_p.T224I|NUMB_ENST00000555238.1_Missense_Mutation_p.T235I|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Missense_Mutation_p.T235I|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000356296.4_Missense_Mutation_p.T235I|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000355058.3_Missense_Mutation_p.T235I|NUMB_ENST00000557597.1_Missense_Mutation_p.T224I|NUMB_ENST00000359560.3_Missense_Mutation_p.T224I|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.T224I P49757 NUMB_HUMAN numb homolog (Drosophila) 235 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) GGATGGGGCAGTGTTGCCAGG 0.478000 70 155 0 0 0.014410 0 0 LTBP2 4053 broad.mit.edu 37 14 75017893 75017893 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:75017893G>A ENST00000261978.4 - 7 1946 c.1560C>T c.(1558-1560)ggC>ggT p.G520G LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Silent_p.G520G NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 520 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) AGAGGCTGTGGCCAGGGCTGG 0.706000 17 66 0 0 0.007413 0 0 C9orf171 389799 broad.mit.edu 37 9 135374845 135374845 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:135374845G>A ENST00000343036.2 + 4 538 c.490G>A c.(490-492)Gtg>Atg p.V164M C9orf171_ENST00000393215.3_Missense_Mutation_p.V128M|C9orf171_ENST00000393216.2_Missense_Mutation_p.V128M NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 164 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 CCGCGGGGCGGTGAAAGCCGG 0.612000 58 149 0 0 0.014410 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42374582 42374582 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:42374582G>A ENST00000290472.3 - 9 772 c.678C>T c.(676-678)tcC>tcT p.S226S NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 226 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CATTGCTTCTGGAGCTCTGAA 0.478000 38 81 0 0 0.005524 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338846 151338846 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:151338846G>A ENST00000435071.1 - 7 1018 c.556C>T c.(556-558)Ccc>Tcc p.P186S SELENBP1_ENST00000426705.2_Missense_Mutation_p.P292S|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P188S|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P250S Q13228 SBP1_HUMAN selenium binding protein 1 250 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATCTCCAAGGGAATAAGCCCA 0.572000 123 210 0 0 0.014410 0 0 ZNF331 55422 broad.mit.edu 37 19 54080355 54080355 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:54080355C>T ENST00000253144.9 + 7 1874 c.541C>T c.(541-543)Cat>Tat p.H181Y ZNF331_ENST00000511593.2_Missense_Mutation_p.H181Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.H181Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000449416.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.H181Y NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H181N(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TCAAAAAATTCATACTGGGGA 0.418000 T ? follicular thyroid adenoma 59 87 0 0 0.014410 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758579 121758579 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:121758579G>A ENST00000261367.7 + 6 1716 c.288G>A c.(286-288)tgG>tgA p.W96* SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Nonsense_Mutation_p.W96*|SNCAIP_ENST00000503116.2_Nonsense_Mutation_p.W96*|SNCAIP_ENST00000379536.2_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000261368.8_Nonsense_Mutation_p.W49*|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 49 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 p.W96*(2)|p.W49*(1) 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) GCTCTAGCTGGAATTGTGGCA 0.413000 17 36 0 0 0.006122 0 0 BRINP2 57795 broad.mit.edu 37 1 177226312 177226312 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:177226312G>A ENST00000361539.4 + 4 773 c.460_splice c.e4-1 p.G154_splice FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 154 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 TTCACCATAGGAGAAGAGTCC 0.493000 12 64 0 0 0.013537 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576154 20576154 + Missense_Mutation SNP C C T rs144570025 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:20576154C>T ENST00000329697.6 - 2 182 c.14G>A c.(13-15)cGa>cAa p.R5Q ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 5 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.R5Q(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGAACTTTTCGCAGCCAATG 0.498000 8 49 0 0 0.006214 0 0 TRPV5 56302 broad.mit.edu 37 7 142630544 142630544 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142630544G>A ENST00000265310.1 - 1 361 c.13C>T c.(13-15)Cta>Tta p.L5L TRPV5_ENST00000442623.1_Silent_p.L5L NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 5 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GCCTTAGGTAGAAAACCCCCC 0.512000 62 145 0 0 0.014410 0 0 NTRK3 4916 broad.mit.edu 37 15 88420186 88420186 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:88420186A>T ENST00000394480.1 - 19 2779 c.2458T>A c.(2458-2460)Tac>Aac p.Y820N NTRK3_ENST00000557856.1_Missense_Mutation_p.Y812N|NTRK3_ENST00000360948.2_Missense_Mutation_p.Y834N|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y820N|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y826N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 834 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ATGTCCAGGTAGATTGGGGTG 0.537000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 26 76 0 0 0.007291 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144886268 144886268 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:144886268G>A ENST00000369359.4 - 26 3415 c.3377C>T c.(3376-3378)tCc>tTc p.S1126F PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S989F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1126F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1055F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S989F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 989 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) AGAAGGAGGGGAAAAAGATGG 0.473000 T PDGFRB MPD 120 307 0 0 0.014410 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711128 140711128 + Missense_Mutation SNP C C T rs145926133 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140711128C>T ENST00000517417.1 + 1 877 c.877C>T c.(877-879)Cgt>Tgt p.R293C PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C NM_018912.2 NP_061735.1 p.R293C(2) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAATATTTCGTTTAGATTC 0.428000 40 51 0 0 0.006230 0 0 SULT4A1 25830 broad.mit.edu 37 22 44229612 44229612 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:44229612C>T ENST00000330884.4 - 5 631 c.511G>A c.(511-513)Ggc>Agc p.G171S SULT4A1_ENST00000249130.5_Missense_Mutation_p.G171S|SULT4A1_ENST00000540422.1_Missense_Mutation_p.G58S NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 171 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) GAGCCGTAGCCCACTGCGGAG 0.627000 10 12 0 0 0.006214 0 0 FERMT1 55612 broad.mit.edu 37 20 6100135 6100135 + Missense_Mutation SNP C C T rs1056137 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:6100135C>T ENST00000217289.4 - 2 855 c.67G>A c.(67-69)Gaa>Aaa p.E23K FERMT1_ENST00000536936.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 23 cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TGCTGCTCTTCATTGGGATGG 0.468000 42 78 0 0 0.007835 0 0 AGTR2 186 broad.mit.edu 37 X 115304600 115304600 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:115304600G>A ENST00000371906.4 + 3 1257 c.1067G>A c.(1066-1068)aGa>aAa p.R356K NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 356 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 AGTTCTCTTAGAGAAATGGAG 0.423000 23 41 0 0 0.002780 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182908646 182908646 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:182908646T>A ENST00000367547.3 - 4 1049 c.813A>T c.(811-813)gaA>gaT p.E271D SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E152D NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 343 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 TCTCACAACTTTCTTCATCAT 0.289000 12 53 0 0 0.013537 0 0 KBTBD13 390594 broad.mit.edu 37 15 65370276 65370276 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:65370276G>A ENST00000432196.2 + 1 1123 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 375 cytoplasm lung(1)|prostate(1)|skin(1) 3 TCTCAACCTGGCCACGGGCCA 0.652000 30 72 0 0 0.012213 0 0 KIF21B 23046 broad.mit.edu 37 1 200948786 200948786 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:200948786C>T ENST00000332129.2 - 29 4314 c.3998G>A c.(3997-3999)gGc>gAc p.G1333D KIF21B_ENST00000360529.5_Missense_Mutation_p.G1333D|KIF21B_ENST00000461742.2_Missense_Mutation_p.G1346D|KIF21B_ENST00000422435.2_Missense_Mutation_p.G1346D 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 1346 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 GTTGGGGTGGCCCTTTAGAGC 0.572000 OREG0014066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 134 480 0 0 0.014410 0 0 CNTN2 6900 broad.mit.edu 37 1 205027141 205027141 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:205027141G>A ENST00000331830.4 + 3 447 c.163G>A c.(163-165)Gag>Aag p.E55K NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 55 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTCCACGGAGGAGCAGGTGTT 0.642000 30 63 0 0 0.008361 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31117622 31117622 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:31117622G>A ENST00000304166.4 + 4 463 c.174G>A c.(172-174)tgG>tgA p.W58* ADCYAP1R1_ENST00000409363.1_Nonsense_Mutation_p.W58*|ADCYAP1R1_ENST00000396211.2_Nonsense_Mutation_p.W58*|ADCYAP1R1_ENST00000409489.1_Nonsense_Mutation_p.W58* 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 58 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 CTGGGATGTGGGACAACATCA 0.567000 18 89 0 0 0.006122 0 0 BAZ2B 29994 broad.mit.edu 37 2 160194147 160194147 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:160194147C>T ENST00000392783.2 - 32 6086 c.5591G>A c.(5590-5592)cGg>cAg p.R1864Q BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1764Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1830Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1828Q NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1864 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTCACTCTTCCGTTCTAGTGC 0.428000 52 126 0 0 0.014410 0 0 MROH2B 133558 broad.mit.edu 37 5 41018857 41018857 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:41018857C>T ENST00000399564.4 - 26 3059 c.2609G>A c.(2608-2610)gGa>gAa p.G870E MROH2B_ENST00000506092.2_Missense_Mutation_p.G425E NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGAAGTTTTCCTAGGGCGTC 0.448000 18 65 0 0 0.008871 0 0 LCE1B 353132 broad.mit.edu 37 1 152785112 152785112 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152785112T>A ENST00000360090.3 + 1 666 c.190T>A c.(190-192)Tct>Act p.S64T NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 64 Gly-rich. keratinization breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGCTCCAGCTCTGGGGGTTG 0.652000 92 169 0 0 0.014410 0 0 RASA1 5921 broad.mit.edu 37 5 86679577 86679577 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:86679577G>A ENST00000456692.2 + 21 2322 c.2207G>A c.(2206-2208)cGg>cAg p.R736Q RASA1_ENST00000274376.6_Missense_Mutation_p.R913Q|RASA1_ENST00000506290.1_Missense_Mutation_p.R747Q|RASA1_ENST00000512763.1_Missense_Mutation_p.R746Q NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 913 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTGAATCCACGGATGTTCAAT 0.294000 10 15 0 0 0.013537 0 0 SLC22A4 6583 broad.mit.edu 37 5 131647923 131647923 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:131647923C>T ENST00000200652.3 + 2 637 c.463C>T c.(463-465)Ctc>Ttc p.L155F SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 155 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) AGGCGTGCTCCTCGGCTCCTT 0.592000 71 89 0 0 0.014410 0 0 PNPLA3 80339 broad.mit.edu 37 22 44323028 44323028 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:44323028C>G ENST00000216180.3 + 2 574 c.401C>G c.(400-402)tCc>tGc p.S134C PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.S130C NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 134 Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) GACTTTCGGTCCAAAGACGAA 0.507000 42 113 0 0 0.010771 0 0 MOB2 81532 broad.mit.edu 37 11 1491702 1491702 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1491702G>A ENST00000329957.6 - 5 696 c.507C>T c.(505-507)agC>agT p.S169S MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 138 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 ACTCAAAGGAGCTGGGGAATT 0.627000 9 55 0 0 0.004482 0 0 HRH1 3269 broad.mit.edu 37 3 11301955 11301955 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:11301955G>A ENST00000397056.1 + 3 1423 c.1232G>A c.(1231-1233)aGg>aAg p.R411K HRH1_ENST00000438284.2_Missense_Mutation_p.R411K|HRH1_ENST00000431010.2_Missense_Mutation_p.R411K NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 411 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) AACCGCGAAAGGAAGGCCGCC 0.478000 151 196 0 0 0.014410 0 0 OR5V1 81696 broad.mit.edu 37 6 29323920 29323920 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:29323920G>A ENST00000377154.1 - 4 352 c.53C>T c.(52-54)tCc>tTc p.S18F OR5V1_ENST00000543825.1_Missense_Mutation_p.S18F Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATTTAGGTTGGAGAATCCCAA 0.363000 22 51 0 0 0.012319 0 0 GFRA2 2675 broad.mit.edu 37 8 21563530 21563530 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:21563530G>C ENST00000524240.1 - 5 1468 c.818C>G c.(817-819)gCc>gGc p.A273G GFRA2_ENST00000517328.1_Missense_Mutation_p.A273G|GFRA2_ENST00000518077.1_Missense_Mutation_p.A140G|GFRA2_ENST00000400782.4_Missense_Mutation_p.A168G NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 273 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) TCGACAATTGGCATGGAAGTC 0.567000 4 11 0 0 0.009096 0 0 DUSP27 92235 broad.mit.edu 37 1 167097833 167097833 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:167097833G>A ENST00000361200.2 + 6 3631 c.3465G>A c.(3463-3465)agG>agA p.R1155R DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.R1155R|DUSP27_ENST00000443333.1_Silent_p.R1155R Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 1155 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 TGCAGAAAAGGAGGGAGGACT 0.527000 16 62 0 0 0.004990 0 0 COL4A4 1286 broad.mit.edu 37 2 227967554 227967554 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:227967554C>T ENST00000396625.3 - 15 1088 c.881G>A c.(880-882)gGt>gAt p.G294D COL4A4_ENST00000329662.7_Missense_Mutation_p.G294D NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 294 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) TGCCCCAATACCAGATTCTCC 0.383000 45 143 0 0 0.014410 0 0 PREX2 80243 broad.mit.edu 37 8 68968209 68968209 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:68968209G>A ENST00000288368.4 + 10 1515 c.1238_splice c.e10+1 p.S413_splice PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 413 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.S413N(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTTCTTGGAAGGTAGGGTTGG 0.373000 12 84 0 0 0.013537 0 0 TNC 3371 broad.mit.edu 37 9 117826195 117826195 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:117826195G>A ENST00000350763.4 - 12 4051 c.3640C>T c.(3640-3642)Cca>Tca p.P1214S TNC_ENST00000341037.4_Missense_Mutation_p.P1214S|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.P1214S|TNC_ENST00000340094.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1214 Fibronectin type-III 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGTCCTCCTGGGACGGTGAGG 0.562000 34 95 0 0 0.013726 0 0 TSPAN8 7103 broad.mit.edu 37 12 71526560 71526560 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:71526560A>C ENST00000393330.2 - 10 1041 c.489T>G c.(487-489)aaT>aaG p.N163K TSPAN8_ENST00000546561.1_Missense_Mutation_p.N163K|TSPAN8_ENST00000552128.1_Missense_Mutation_p.N80K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N163K P19075 TSN8_HUMAN tetraspanin 8 163 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) GTTGAAAATTATTTCCCCAAT 0.368000 139 202 0 0 0.014410 0 0 CDH8 1006 broad.mit.edu 37 16 61761119 61761119 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:61761119C>T ENST00000577390.1 - 9 2369 c.1414_splice c.e9-1 p.R472_splice CDH8_ENST00000299345.6_Splice_Site_p.R472_splice|CDH8_ENST00000577730.1_Splice_Site_p.R472_splice|CDH8_ENST00000584337.1_Splice_Site_p.R472_splice NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 472 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ACTGTGGTTCCCTATGGGAAG 0.408000 12 43 0 0 0.013537 0 0 KCNJ8 3764 broad.mit.edu 37 12 21926205 21926205 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21926205C>T ENST00000240662.2 - 2 691 c.346G>A c.(346-348)Gag>Aag p.E116K NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 116 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) ACAGTGGACTCCAAACCACTT 0.463000 82 191 0 0 0.014410 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110442180 110442180 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110442180G>A ENST00000378402.5 + 27 3247 c.3143G>A c.(3142-3144)gGa>gAa p.G1048E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1048 immune response cytosol|extracellular space|integral to membrane receptor activity p.G1050>?(1) 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) TATGTCAATGGAATTCCAGCT 0.398000 HNSCC(38;0.096) 6 36 0 0 0.001168 0 0 OTUD4 54726 broad.mit.edu 37 4 146065546 146065546 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:146065546G>A ENST00000454497.2 - 15 1405 c.1268C>T c.(1267-1269)cCa>cTa p.P423L OTUD4_ENST00000447906.2_Missense_Mutation_p.P488L|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 487 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CTGGACACATGGATTGCTACT 0.378000 38 165 0 0 0.005524 0 0 GRIA2 2891 broad.mit.edu 37 4 158254081 158254081 + Silent SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:158254081G>C ENST00000296526.7 + 7 1318 c.993G>C c.(991-993)ctG>ctC p.L331L GRIA2_ENST00000507898.1_Silent_p.L284L|GRIA2_ENST00000393815.2_Silent_p.L284L|GRIA2_ENST00000449365.1_Silent_p.L284L|GRIA2_ENST00000264426.9_Silent_p.L331L NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 331 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) GAGACTGTCTGGCAAACCCAG 0.478000 8 41 0 0 0.004482 0 0 JUP 3728 broad.mit.edu 37 17 39928000 39928000 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39928000G>A ENST00000393931.3 - 2 225 c.107C>T c.(106-108)tCc>tTc p.S36F JUP_ENST00000393930.1_Missense_Mutation_p.S36F|JUP_ENST00000540235.1_Missense_Mutation_p.S36F|JUP_ENST00000310706.5_Missense_Mutation_p.S36F NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 36 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) GCTGCTGACGGAGGGCACGCA 0.607000 36 85 0 0 0.004289 0 0 SLC39A10 57181 broad.mit.edu 37 2 196545682 196545682 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:196545682C>T ENST00000409086.3 + 2 1191 c.916C>T c.(916-918)Cga>Tga p.R306* SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.R306* NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 306 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.R306*(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) AGGTGAACTTCGACATACTAG 0.368000 25 67 0 0 0.003330 0 0 C5orf42 65250 broad.mit.edu 37 5 37121752 37121752 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:37121752G>A ENST00000274258.7 - 48 9271 c.5684C>T c.(5683-5685)tCt>tTt p.S1895F C5orf42_ENST00000508244.1_Missense_Mutation_p.S2997F|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.S2997F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2997 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACAACTGGAAGACTGAGTAGG 0.458000 19 61 0 0 0.007413 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892213 90892213 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:90892213C>T ENST00000412799.2 - 1 456 c.217G>A c.(217-219)Gag>Aag p.E73K AAGGCGTCCTCAGGTCTCAGG 0.488000 29 81 0 0 0.010818 0 0 TTBK1 84630 broad.mit.edu 37 6 43251412 43251412 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:43251412C>T ENST00000259750.4 + 14 3017 c.2934C>T c.(2932-2934)ccC>ccT p.P978P NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 978 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCGAGCGCCCCTGGAGAACG 0.687000 26 71 0 0 0.004656 0 0 PPP4R4 57718 broad.mit.edu 37 14 94718122 94718122 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94718122G>A ENST00000304338.3 + 16 1908 c.1754G>A c.(1753-1755)cGa>cAa p.R585Q NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 585 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AATAGACTTCGATTTTTGGAT 0.279000 20 45 0 0 0.010504 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110454391 110454391 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110454391G>A ENST00000378402.5 + 35 4464 c.4360G>A c.(4360-4362)Gga>Aga p.G1454R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1454 IPT/TIG 7. 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) TGATGGCAAAGGATTCACAAG 0.373000 HNSCC(38;0.096) 6 20 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179542471 179542471 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179542471C>T ENST00000589042.1 - 146 34392 c.34168G>A c.(34168-34170)Gaa>Aaa p.E11390K TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11073K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E10146K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11073 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTGGAATTTCCTCTTCTTCA 0.433000 30 70 0 0 0.010818 0 0 SLC18A1 6570 broad.mit.edu 37 8 20028990 20028990 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:20028990C>T ENST00000440926.1 - 8 1210 c.740G>A c.(739-741)gGa>gAa p.G247E SLC18A1_ENST00000519026.1_Missense_Mutation_p.G247E|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G247E|SLC18A1_ENST00000276373.5_Missense_Mutation_p.G247E|SLC18A1_ENST00000524272.1_5'UTR|SLC18A1_ENST00000437980.1_Missense_Mutation_p.G247E|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G247E NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 247 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CATTACACTTCCAAAGGGAGC 0.512000 33 104 0 0 0.003271 0 0 HERC1 8925 broad.mit.edu 37 15 63904618 63904618 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:63904618G>A ENST00000443617.2 - 77 14319 c.14232C>T c.(14230-14232)taC>taT p.Y4744Y NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4744 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 CCACCTCACGGTACCGCACCA 0.552000 22 77 0 0 0.006320 0 0 GNA15 2769 broad.mit.edu 37 19 3157840 3157840 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:3157840C>T ENST00000262958.3 + 6 1117 c.859C>T c.(859-861)Ccc>Tcc p.P287S NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 287 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) GGAGAAAATCCCCACCTCCCA 0.483000 100 246 0 0 0.014410 0 0 OR2T12 127064 broad.mit.edu 37 1 248458657 248458657 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248458657G>A ENST00000317996.1 - 1 223 c.224C>T c.(223-225)aCt>aTt p.T75I NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) TTTGGGCACAGTGGTGGAAAC 0.562000 9 96 0 0 0.012319 0 0 SALL1 6299 broad.mit.edu 37 16 51174202 51174202 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:51174202G>A ENST00000440970.1 - 2 2071 c.1640C>T c.(1639-1641)tCc>tTc p.S547F SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S644F|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 644 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGCCGCTGGGGAGCTCAGGAC 0.622000 14 92 0 0 0.001855 0 0 NID2 22795 broad.mit.edu 37 14 52485805 52485805 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:52485805G>A ENST00000216286.5 - 14 3001 c.3002C>T c.(3001-3003)aCc>aTc p.T1001I NID2_ENST00000541773.1_Missense_Mutation_p.T900I NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1001 Thyroglobulin type-1 1. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GTGAGGCGGGGTGGAGCCAGG 0.572000 15 41 0 0 0.004007 0 0 SLIT2 9353 broad.mit.edu 37 4 20569199 20569199 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:20569199G>A ENST00000504154.1 + 28 3161 c.2909G>A c.(2908-2910)gGa>gAa p.G970E SLIT2_ENST00000273739.5_Missense_Mutation_p.G974E|SLIT2_ENST00000503823.1_Missense_Mutation_p.G962E|SLIT2_ENST00000503837.1_Missense_Mutation_p.G966E NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 970 EGF-like 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AAACATGGAGGAACTTGCCAC 0.443000 6 28 0 0 0.001984 0 0 LAMA5 3911 broad.mit.edu 37 20 60909354 60909354 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:60909354A>T ENST00000252999.3 - 22 2693 c.2627T>A c.(2626-2628)cTg>cAg p.L876Q NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 876 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) CTCCAGCTCCAGGCGCAGGTG 0.662000 6 24 0 0 0.001984 0 0 KRT75 9119 broad.mit.edu 37 12 52827960 52827960 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52827960C>T ENST00000252245.5 - 1 349 c.129G>A c.(127-129)ggG>ggA p.G43G NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 43 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GGCCCCCACTCCCTGCTGCAG 0.672000 31 95 0 0 0.009535 0 0 MON1A 84315 broad.mit.edu 37 3 49949127 49949127 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:49949127C>T ENST00000417270.1 - 4 1162 c.469G>A c.(469-471)Gag>Aag p.E157K MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000296473.3_Missense_Mutation_p.E246K|MON1A_ENST00000455683.2_Intron|CTD-2330K9.3_ENST00000419183.1_Intron Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 149 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CGCCATGCCTCCGTGGCATCC 0.622000 90 107 0 0 0.014410 0 0 PCMTD2 55251 broad.mit.edu 37 20 62904952 62904952 + Nonstop_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:62904952A>T ENST00000308824.6 + 6 1212 c.1085A>T c.(1084-1086)tAa>tTa p.*362L PCMTD2_ENST00000266078.6_Nonstop_Mutation_p.*138L|PCMTD2_ENST00000369758.3_Nonstop_Mutation_p.*335L|PCMTD2_ENST00000299468.7_Intron NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 0 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGAGAAAAATAAGTCTCCTGT 0.502000 47 146 0 0 0.014410 0 0 COL4A3 1285 broad.mit.edu 37 2 228148999 228148999 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:228148999G>A ENST00000396578.3 + 34 2981 c.2819G>A c.(2818-2820)gGa>gAa p.G940E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 940 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAGATAAAGGAAATCCCGGG 0.498000 31 72 0 0 0.009535 0 0 ABCA8 10351 broad.mit.edu 37 17 66883513 66883513 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:66883513G>A ENST00000269080.2 - 23 3296 c.3159C>T c.(3157-3159)ttC>ttT p.F1053F ABCA8_ENST00000430352.2_Silent_p.F1093F|ABCA8_ENST00000586539.1_Silent_p.F1093F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1053 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.F1053F(1) 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) GCATGTCTTCGAAGTTTGAAA 0.343000 27 74 0 0 0.003954 0 0 CHMP7 91782 broad.mit.edu 37 8 23106783 23106783 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:23106783C>T ENST00000397677.1 + 3 1008 c.360C>T c.(358-360)tcC>tcT p.S120S CHMP7_ENST00000313219.7_Silent_p.S120S NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 120 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GCTGGATCTCCTGGGGGGTTG 0.542000 50 104 0 0 0.014410 0 0 NME8 51314 broad.mit.edu 37 7 37890311 37890311 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:37890311G>A ENST00000199447.4 + 5 544 c.172G>A c.(172-174)Gaa>Aaa p.E58K NME8_ENST00000440017.1_Missense_Mutation_p.E58K|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 58 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.E58K(1) TGAACTGAACGAAGACGAAAT 0.318000 7 75 0 0 0.004482 0 0 SERPINA3 12 broad.mit.edu 37 14 95081394 95081394 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:95081394G>A ENST00000553947.1 + 5 1579 c.691G>A c.(691-693)Gtc>Atc p.V231I SERPINA3_ENST00000393078.3_Missense_Mutation_p.V206I|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V206I|SERPINA3_ENST00000467132.1_Missense_Mutation_p.V206I|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 206 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) GACAATGATGGTCCTGGTGAA 0.478000 56 161 0 0 0.014410 0 0 ZNF658 26149 broad.mit.edu 37 9 40772476 40772476 + Silent SNP C C T rs142990728 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:40772476C>T ENST00000602553.1 - 5 3093 c.2799G>A c.(2797-2799)acG>acA p.T933T ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.T933T Q5TYW1 ZN658_HUMAN zinc finger protein 658 933 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTTTCTCCCCCGTATGAACTC 0.438000 70 193 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13845060 13845060 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13845060G>A ENST00000265104.4 - 32 5261 c.5157C>T c.(5155-5157)ttC>ttT p.F1719F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1719 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATCTGAGACGAAGAAAAACC 0.448000 Kartagener syndrome 29 65 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179438573 179438573 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179438573C>T ENST00000589042.1 - 326 72510 c.72286G>A c.(72286-72288)Gat>Aat p.D24096N TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D22455N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15031N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15156N|TTN_ENST00000342992.6_Missense_Mutation_p.D21528N|TTN_ENST00000342175.6_Missense_Mutation_p.D15223N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22455 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) GCACCACTATCCCTTCTTGTT 0.418000 22 53 0 0 0.014323 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077395 19077395 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:19077395G>A ENST00000329773.2 - 2 642 c.555C>T c.(553-555)ttC>ttT p.F185F NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 185 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CTGCAGTGATGAAATCAAATG 0.517000 20 76 0 0 0.010504 0 0 RDH16 8608 broad.mit.edu 37 12 57348914 57348914 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57348914G>A ENST00000398138.3 - 2 1204 c.348C>T c.(346-348)tcC>tcT p.S116S RDH16_ENST00000360752.4_Intron NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 116 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 CCGTGGGCAAGGAGATGCCAG 0.552000 15 52 0 0 0.004007 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74834752 74834752 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:74834752C>T ENST00000370895.1 + 16 1706 c.1671C>T c.(1669-1671)ttC>ttT p.F557F TNNI3K_ENST00000370891.2_Silent_p.F557F|FPGT-TNNI3K_ENST00000370899.3_Silent_p.F557F|FPGT-TNNI3K_ENST00000557284.1_Silent_p.F557F|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Silent_p.F456F Q59H18 TNI3K_HUMAN 456 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding CTTCACATTTCCATCTTCAGC 0.353000 3 21 0 0 0.004672 0 0 CSF1 1435 broad.mit.edu 37 1 110466394 110466394 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:110466394C>T ENST00000329608.6 + 6 1542 c.1151C>T c.(1150-1152)cCc>cTc p.P384L CSF1_ENST00000369802.3_Missense_Mutation_p.P384L|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 384 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) AATCACACCCCCCAGAAGACA 0.657000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 165 0 0 0.006999 0 0 CEACAM20 125931 broad.mit.edu 37 19 45016134 45016134 + RNA SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:45016134T>C ENST00000454753.1 - 0 1795 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GGACTCAGGCTTTCTAGAAAA 0.522000 43 67 0 0 0.014410 0 0 SLC12A6 9990 broad.mit.edu 37 15 34546760 34546760 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:34546760G>A ENST00000354181.3 - 9 1399 c.907C>T c.(907-909)Cac>Tac p.H303Y SLC12A6_ENST00000560164.1_Missense_Mutation_p.H115Y|SLC12A6_ENST00000560611.1_Missense_Mutation_p.H303Y|SLC12A6_ENST00000451844.2_Missense_Mutation_p.H115Y|SLC12A6_ENST00000397707.2_Missense_Mutation_p.H288Y|SLC12A6_ENST00000397702.2_Missense_Mutation_p.H244Y|SLC12A6_ENST00000558589.1_Missense_Mutation_p.H294Y|SLC12A6_ENST00000290209.5_Missense_Mutation_p.H252Y|SLC12A6_ENST00000458406.2_Missense_Mutation_p.H244Y|SLC12A6_ENST00000558667.1_Missense_Mutation_p.H303Y Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 303 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TCATCACTGTGAAAGATGGCA 0.393000 37 80 0 0 0.006999 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862961 10862961 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:10862961G>A ENST00000559480.1 + 0 257 p.R86K(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TTCCAGGCCAGAGTCACCATA 0.532000 50 248 0 0 0.014410 0 0 PNKD 25953 broad.mit.edu 37 2 219204529 219204529 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:219204529G>A ENST00000273077.4 + 3 311 c.260G>A c.(259-261)tGg>tAg p.W87* AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Nonsense_Mutation_p.W63*|PNKD_ENST00000436005.2_Nonsense_Mutation_p.W27* NM_015488.4 NP_056303.3 Q8N490 PNKD_HUMAN paroxysmal nonkinesigenic dyskinesia 87 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCCGCACCTGGCTCGGGTAC 0.602000 17 44 0 0 0.010504 0 0 C2orf16 84226 broad.mit.edu 37 2 27802154 27802154 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:27802154G>A ENST00000408964.2 + 1 2766 c.2715G>A c.(2713-2715)agG>agA p.R905R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 905 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) CTATGGAAAGGAAGCTTTGTT 0.428000 58 81 0 0 0.014410 0 0 BCAS1 8537 broad.mit.edu 37 20 52601869 52601869 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:52601869G>A ENST00000395961.3 - 7 1263 c.1097C>T c.(1096-1098)tCa>tTa p.S366L BCAS1_ENST00000434986.2_Missense_Mutation_p.S124L|BCAS1_ENST00000371440.3_Missense_Mutation_p.S411L|BCAS1_ENST00000371435.2_Missense_Mutation_p.S366L NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 366 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GGTGGGTCCTGATTTCTCCTT 0.537000 39 130 0 0 0.006230 0 0 CCDC170 80129 broad.mit.edu 37 6 151907044 151907044 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:151907044C>T ENST00000367290.5 + 7 1202 c.1113C>T c.(1111-1113)gcC>gcT p.A371A CCDC170_ENST00000239374.7_Silent_p.A371A Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 371 AGCTTGAAGCCCAAATATCTG 0.458000 5 18 0 0 0.000602 0 0 MROH2B 133558 broad.mit.edu 37 5 41004463 41004463 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:41004463C>T ENST00000399564.4 - 37 4629 c.4179G>A c.(4177-4179)agG>agA p.R1393R MROH2B_ENST00000506092.2_Silent_p.R948R NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAAAGAAGGTCCTTGTTTGCA 0.448000 41 111 0 0 0.010771 0 0 C7orf60 154743 broad.mit.edu 37 7 112461985 112461985 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:112461985G>A ENST00000297145.4 - 5 1197 c.1032C>T c.(1030-1032)ttC>ttT p.F344F NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 344 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 CTATACTGTTGAAATCTTGAG 0.373000 12 21 0 0 0.013537 0 0 BRDT 676 broad.mit.edu 37 1 92445249 92445249 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:92445249G>A ENST00000370389.2 + 8 1927 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K BRDT_ENST00000402388.1_Missense_Mutation_p.E408K|BRDT_ENST00000399546.2_Missense_Mutation_p.E408K|BRDT_ENST00000394530.3_Missense_Mutation_p.E362K|BRDT_ENST00000362005.3_Missense_Mutation_p.E408K NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 408 Bromo 2. 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) AGCCTCCTCTGAAGGGAACTC 0.393000 57 241 0 0 0.014410 0 0 GFRA1 2674 broad.mit.edu 37 10 117849333 117849333 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:117849333C>T ENST00000439649.3 - 8 1468 c.1101G>A c.(1099-1101)cgG>cgA p.R367R GFRA1_ENST00000355422.6_Silent_p.R372R|GFRA1_ENST00000369236.1_Silent_p.R367R|GFRA1_ENST00000544592.1_Silent_p.R251R NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 372 Poly-Thr. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TGTTCTTAACCCGGAGGGCAG 0.537000 32 50 0 0 0.010818 0 0 TGM6 343641 broad.mit.edu 37 20 2411557 2411557 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:2411557G>A ENST00000202625.2 + 12 1912 c.1851G>A c.(1849-1851)atG>atA p.M617I TGM6_ENST00000381423.1_Intron NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 617 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) GCCCAGCCATGGTGGGAGTGG 0.597000 77 186 0 0 0.014410 0 0 PEX1 5189 broad.mit.edu 37 7 92136429 92136429 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:92136429G>A ENST00000248633.4 - 10 1777 c.1682C>T c.(1681-1683)tCc>tTc p.S561F PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.S561F|PEX1_ENST00000438045.1_Missense_Mutation_p.S239F NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 561 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding p.S561C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TACGCCTAAGGAATTCACTCC 0.428000 20 45 0 0 0.007413 0 0 IGHV4-31 28396 broad.mit.edu 37 14 106805291 106805291 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106805291G>A ENST00000438142.2 - 0 343 CGTGTCTACTGATATGGTAAC 0.547000 97 585 0 0 0.014410 0 0 GLDC 2731 broad.mit.edu 37 9 6588438 6588438 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:6588438G>A ENST00000321612.6 - 14 1820 c.1670C>T c.(1669-1671)tCc>tTc p.S557F NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 557 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CATGGTGCAGGATCCCTTTAA 0.448000 26 88 0 0 0.008361 0 0 CD163 9332 broad.mit.edu 37 12 7639526 7639526 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7639526G>A ENST00000359156.4 - 9 2309 c.2107C>T c.(2107-2109)Cct>Tct p.P703S CD163_ENST00000396620.3_Missense_Mutation_p.P736S|CD163_ENST00000432237.2_Missense_Mutation_p.P703S|CD163_ENST00000541972.1_Missense_Mutation_p.P691S NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 703 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGAATGGTAGGCCTTGTTGGG 0.413000 22 49 0 0 0.004656 0 0 ZNF99 7652 broad.mit.edu 37 19 22941065 22941065 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22941065G>A ENST00000397104.3 - 5 1372 c.1373C>T c.(1372-1374)tCc>tTc p.S458F ZNF99_ENST00000596209.1_Missense_Mutation_p.S549F zinc finger protein 99 p.S458Y(1) 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) AAGGGTTGAGGAATTGTTAAA 0.333000 38 46 0 0 0.005524 0 0 SLC10A7 84068 broad.mit.edu 37 4 147438251 147438251 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:147438251G>A ENST00000432059.2 - 2 368 c.122C>T c.(121-123)aCt>aTt p.T41I SLC10A7_ENST00000511374.1_Missense_Mutation_p.T41I|SLC10A7_ENST00000264986.3_Missense_Mutation_p.T41I|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T41I|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.T41I|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T41I|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T41I|SLC10A7_ENST00000502607.1_Missense_Mutation_p.T41I Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 41 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) GTAGGATACAGTTATTTCTGG 0.348000 97 201 0 0 0.014410 0 0 ZBTB40 9923 broad.mit.edu 37 1 22817086 22817086 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:22817086C>T ENST00000404138.1 + 3 1156 c.645C>T c.(643-645)ccC>ccT p.P215P ZBTB40_ENST00000375647.4_Silent_p.P215P|ZBTB40_ENST00000374651.4_Silent_p.P215P NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 215 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CTTGTTCCCCCTCCCCTGCTG 0.468000 24 78 0 0 0.002780 0 0 BAGE2 85319 broad.mit.edu 37 21 11097588 11097588 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:11097588G>A ENST00000470054.1 - 0 281 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) gctcaccacaggggactcctc 0.542000 6 140 0 0 0.003080 0 0 SLC18A2 6571 broad.mit.edu 37 10 119003739 119003739 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:119003739G>A ENST00000298472.5 + 3 522 c.379G>A c.(379-381)Gaa>Aaa p.E127K SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 127 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CCTCCTGAATGAAAACGTGCA 0.527000 31 52 0 0 0.008361 0 0 SYT7 9066 broad.mit.edu 37 11 61323677 61323677 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:61323677C>T ENST00000263846.4 - 2 361 c.34G>A c.(34-36)Gcg>Acg p.A12T SYT7_ENST00000542670.1_Missense_Mutation_p.A12T|SYT7_ENST00000540677.1_Missense_Mutation_p.A12T|SYT7_ENST00000535826.1_Missense_Mutation_p.A12T|SYT7_ENST00000539008.1_Missense_Mutation_p.A12T|SYT7_ENST00000542836.1_Missense_Mutation_p.A12T NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 12 cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.A12P(1) kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CGCGAGGGCGCCCCTGGGGAG 0.652000 17 29 0 0 0.007413 0 0 PRKD1 5587 broad.mit.edu 37 14 30068238 30068238 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:30068238G>A ENST00000331968.5 - 15 2390 c.2161C>T c.(2161-2163)Cct>Tct p.P721S PRKD1_ENST00000415220.2_Missense_Mutation_p.P729S NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 721 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CTTGCCTGAGGAAAAGGATCA 0.423000 26 57 0 0 0.006320 0 0 PNPLA3 80339 broad.mit.edu 37 22 44323029 44323029 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:44323029C>T ENST00000216180.3 + 2 575 c.402C>T c.(400-402)tcC>tcT p.S134S PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Silent_p.S130S NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 134 Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) ACTTTCGGTCCAAAGACGAAG 0.512000 42 111 0 0 0.010771 0 0 ABCB5 340273 broad.mit.edu 37 7 20685683 20685683 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:20685683C>T ENST00000404938.2 + 9 1555 c.903C>T c.(901-903)acC>acT p.T301T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 487 ABC transmembrane type-1. 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 TGAATGGAACCTATGGACTTG 0.393000 7 43 0 0 0.001984 0 0 MROH2B 133558 broad.mit.edu 37 5 41018871 41018871 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:41018871G>A ENST00000399564.4 - 26 3045 c.2595C>T c.(2593-2595)tcC>tcT p.S865S MROH2B_ENST00000506092.2_Silent_p.S420S NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGGCGTCCATGGATCGTTCAT 0.458000 23 56 0 0 0.002780 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18807986 18807986 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:18807986G>A ENST00000400664.1 + 1 563 c.511G>A c.(511-513)Gga>Aga p.G171R NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 171 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) CTCCCCAGCTGGACTCATTGC 0.617000 25 82 0 0 0.006320 0 0 ARID3B 10620 broad.mit.edu 37 15 74865502 74865502 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:74865502G>A ENST00000346246.5 + 4 885 c.654G>A c.(652-654)agG>agA p.R218R NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 218 ARID.|Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 ATCCTGAAAGGAAAGAGTTCC 0.438000 71 225 0 0 0.014410 0 0 USH2A 7399 broad.mit.edu 37 1 215972452 215972452 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:215972452G>A ENST00000366943.2 - 50 10141 c.9755C>T c.(9754-9756)cCa>cTa p.P3252L USH2A_ENST00000307340.3_Missense_Mutation_p.P3252L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3252 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTTCATCTGGACAGCATAC 0.403000 HNSCC(13;0.011) 17 14 0 0 0.007413 0 0 CYTIP 9595 broad.mit.edu 37 2 158272596 158272596 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:158272596C>T ENST00000264192.3 - 8 794 c.673G>A c.(673-675)Gga>Aga p.G225R CYTIP_ENST00000540637.1_Missense_Mutation_p.G119R NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 225 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GGCAGGGGTCCAAACAAAGAC 0.502000 15 54 0 0 0.004007 0 0 MGAM 8972 broad.mit.edu 37 7 141740634 141740634 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:141740634C>T ENST00000475668.2 + 21 2540 c.2486C>T c.(2485-2487)aCc>aTc p.T829I MGAM_ENST00000549489.2_Missense_Mutation_p.T829I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 829 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) CCAAATACAACCACTCTGGCC 0.463000 14 31 0 0 0.002450 0 0 ITFG1 81533 broad.mit.edu 37 16 47462726 47462726 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:47462726T>A ENST00000320640.6 - 6 872 c.644A>T c.(643-645)gAt>gTt p.D215V ITFG1_ENST00000544001.2_Missense_Mutation_p.D102V NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 215 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) TGCTGTAAAATCTTCAGTCAG 0.313000 11 68 0 0 0.001855 0 0 DNAH5 1767 broad.mit.edu 37 5 13829789 13829789 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13829789C>T ENST00000265104.4 - 38 6378 c.6274G>A c.(6274-6276)Gaa>Aaa p.E2092K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2092 AAA 1 (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) TCAGGGAGTTCCTGCCGTCCG 0.428000 Kartagener syndrome 16 51 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9020006 9020006 + Silent SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9020006T>G ENST00000397910.4 - 21 37692 c.37489A>C c.(37489-37491)Agg>Cgg p.R12497R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12499 SEA 3. 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 AGACTGTTCCTGTCCAGGGTG 0.512000 104 284 0 0 0.014410 0 0 HDLBP 3069 broad.mit.edu 37 2 242174968 242174968 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:242174968G>A ENST00000391975.1 - 22 3173 c.2946C>T c.(2944-2946)gaC>gaT p.D982D HDLBP_ENST00000427183.2_Silent_p.D949D|HDLBP_ENST00000391976.2_Silent_p.D982D|HDLBP_ENST00000310931.4_Silent_p.D982D NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 982 KH 12. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AACGGTGAAGGTCAAAGGGCA 0.537000 56 146 0 0 0.014410 0 0 LOXL1 4016 broad.mit.edu 37 15 74238784 74238784 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:74238784A>T ENST00000261921.7 + 3 1564 c.1238A>T c.(1237-1239)gAc>gTc p.D413V NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 413 Lysyl-oxidase like. 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 GAGGCCACCGACTACGATGTG 0.677000 5 17 0 0 0.000602 0 0 COL18A1 80781 broad.mit.edu 37 21 46900645 46900645 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46900645C>T ENST00000359759.4 + 12 2750 c.2729C>T c.(2728-2730)cCc>cTc p.P910L COL18A1_ENST00000355480.5_Missense_Mutation_p.P675L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P495L P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 910 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCTCCCGGACCCCCCGGTGTC 0.701000 27 64 0 0 0.006320 0 0 NHLRC4 283948 broad.mit.edu 37 16 618156 618156 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:618156C>T ENST00000424439.2 + 2 766 c.109C>T c.(109-111)Ctg>Ttg p.L37L NHLRC4_ENST00000540585.1_Silent_p.L37L|PIGQ_ENST00000409527.2_Intron P0CG21 NHLC4_HUMAN NHL repeat containing 4 37 CCGCCAACCCCTGGGCTCCCT 0.662000 5 30 0 0 0.001168 0 0 C2orf71 388939 broad.mit.edu 37 2 29295898 29295898 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:29295898C>T ENST00000331664.5 - 1 1229 c.1230G>A c.(1228-1230)caG>caA p.Q410Q NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 410 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 GCAGGCAGTCCTGGGGTCTGC 0.572000 50 126 0 0 0.014410 0 0 MYO1A 4640 broad.mit.edu 37 12 57442065 57442065 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57442065G>A ENST00000442789.2 - 3 330 c.43C>T c.(43-45)Ctc>Ttc p.L15F MYO1A_ENST00000300119.3_Missense_Mutation_p.L15F NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 15 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 GGTTCCAGGAGGACAAGATCC 0.522000 17 42 0 0 0.006122 0 0 FGF6 2251 broad.mit.edu 37 12 4553315 4553315 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:4553315C>T ENST00000228837.2 - 2 477 c.434G>A c.(433-435)gGa>gAa p.G145E NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 145 angiogenesis|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 growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) GTACAATCTTCCTTTACTGTT 0.488000 26 69 0 0 0.007291 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176493 140176493 + Silent SNP C C T rs140366950 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140176493C>T ENST00000526136.1 + 1 1944 c.1944C>T c.(1942-1944)ctC>ctT p.L648L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L648L|PCDHA2_ENST00000378132.1_Silent_p.L648L 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) ACCGCCTACTCGTGCTGGTGA 0.652000 46 79 0 0 0.014410 0 0 TRBC2 28638 broad.mit.edu 37 7 142498826 142498826 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142498826G>A ENST00000466254.1 + 0 102 CCTGGCCACAGGCTTCTACCC 0.617000 36 179 0 0 0.005524 0 0 DUSP27 92235 broad.mit.edu 37 1 167083001 167083001 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:167083001C>T ENST00000361200.2 + 3 331 c.165C>T c.(163-165)caC>caT p.H55H DUSP27_ENST00000271385.5_Silent_p.H55H|DUSP27_ENST00000443333.1_Silent_p.H55H Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 55 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 AACCCATTCACCTCTCCTCAG 0.453000 135 265 0 0 0.014410 0 0 SNRPC 6631 broad.mit.edu 37 6 34738120 34738120 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:34738120C>T ENST00000374017.3 + 4 653 c.366C>T c.(364-366)ccC>ccT p.P122P SNRPC_ENST00000374018.1_Silent_p.P60P|SNRPC_ENST00000244520.5_Silent_p.P101P|SNRPC_ENST00000474635.1_3'UTR P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 101 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 GGGGCCCTCCCATGATGCCAA 0.502000 35 94 0 0 0.005524 0 0 EXOSC7 23016 broad.mit.edu 37 3 45030653 45030653 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:45030653C>T ENST00000265564.7 + 2 127 c.79C>T c.(79-81)Cgt>Tgt p.R27C EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 27 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) TGTGGATGGCCGTGGCTGTGA 0.522000 31 88 0 0 0.004878 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791110 106791110 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106791110G>A ENST00000390613.2 - 0 325 GGCCCTTCACGGAGTCTGCAT 0.507000 102 464 0 0 0.014410 0 0 CDCP1 64866 broad.mit.edu 37 3 45152248 45152248 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:45152248A>C ENST00000296129.1 - 4 875 c.741T>G c.(739-741)gaT>gaG p.D247E CDCP1_ENST00000425231.2_Missense_Mutation_p.D247E NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 247 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TCATGAGCTCATCCTCAGGGA 0.562000 73 256 0 0 0.014410 0 0 WFDC1 58189 broad.mit.edu 37 16 84360501 84360501 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:84360501G>A ENST00000219454.5 + 6 944 c.618G>A c.(616-618)aaG>aaA p.K206K WFDC1_ENST00000568638.1_Silent_p.K206K Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 206 negative regulation of cell growth extracellular space serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1) 9 GTGACTCAAAGAATGTGGCAG 0.502000 13 121 0 0 0.003163 0 0 OR5H15 403274 broad.mit.edu 37 3 97888017 97888017 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:97888017C>T ENST00000356526.2 + 1 474 c.474C>T c.(472-474)atC>atT p.I158I NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 ATGCTTTAATCCATGAAGGAT 0.358000 9 64 0 0 0.008291 0 0 EPHB2 2048 broad.mit.edu 37 1 23110979 23110979 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:23110979G>A ENST00000400191.3 + 3 239 c.221G>A c.(220-222)cGg>cAg p.R74Q EPHB2_ENST00000374627.1_Missense_Mutation_p.R68Q|EPHB2_ENST00000544305.1_Missense_Mutation_p.R74Q|EPHB2_ENST00000374632.3_Missense_Mutation_p.R74Q|EPHB2_ENST00000374630.3_Missense_Mutation_p.R74Q NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 74 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AACTGGCTACGGACCAAGTTT 0.587000 25 58 0 0 0.003954 0 0 LRRK2 120892 broad.mit.edu 37 12 40692934 40692934 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:40692934C>T ENST00000298910.7 + 25 3429 c.3371C>T c.(3370-3372)tCc>tTc p.S1124F LRRK2_ENST00000343742.2_Missense_Mutation_p.S1124F NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1124 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) GGGATATGCTCCCCCTTGAGA 0.328000 22 76 0 0 0.002780 0 0 NEMF 9147 broad.mit.edu 37 14 50272836 50272836 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:50272836G>C ENST00000298310.5 - 19 2209 c.1760C>G c.(1759-1761)cCa>cGa p.P587R NEMF_ENST00000545773.1_Missense_Mutation_p.P545R|NEMF_ENST00000546046.1_Missense_Mutation_p.P566R|NEMF_ENST00000556925.1_5'UTR O60524 NEMF_HUMAN nuclear export mediator factor 587 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 CAAGGTCCGTGGGGGGATGGG 0.468000 19 56 0 0 0.012319 0 0 TEKT4 150483 broad.mit.edu 37 2 95540640 95540640 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:95540640C>T ENST00000295201.4 + 4 970 c.833C>T c.(832-834)tCc>tTc p.S278F AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 278 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CGCGACACCTCCGAGGACCTG 0.687000 15 22 0 0 0.004007 0 0 GABRA3 2556 broad.mit.edu 37 X 151366215 151366215 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:151366215T>A ENST00000370314.4 - 8 1059 c.821A>T c.(820-822)aAa>aTa p.K274I GABRA3_ENST00000370311.1_Missense_Mutation_p.K274I|GABRA3_ENST00000535043.1_Missense_Mutation_p.K274I NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 274 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTAGCCAATTTTTCGCTTGAG 0.418000 31 51 0 0 0.003271 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232561465 232561465 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:232561465G>A ENST00000366630.1 - 17 4858 c.4500C>T c.(4498-4500)tcC>tcT p.S1500S SIPA1L2_ENST00000262861.4_Silent_p.S1500S|SIPA1L2_ENST00000308942.4_Silent_p.S574S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1500 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AACTGCCAAAGGAGGACCCCC 0.597000 18 78 0 0 0.007413 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122038831 122038831 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:122038831G>A ENST00000263707.5 - 2 176 c.79C>T c.(79-81)Ccc>Tcc p.P27S NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 27 Mediate transcriptional repression. female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TTGAAGATGGGCAGAGCGAGC 0.637000 76 180 0 0 0.014410 0 0 TMEM63C 57156 broad.mit.edu 37 14 77710755 77710755 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:77710755C>T ENST00000298351.4 + 16 1549 c.1405C>T c.(1405-1407)Ctg>Ttg p.L469L NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 469 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) GATACTGCCTCTGATTGTCTA 0.612000 81 203 0 0 0.014410 0 0 LRP12 29967 broad.mit.edu 37 8 105509941 105509941 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:105509941G>A ENST00000276654.5 - 5 947 c.839C>T c.(838-840)cCt>cTt p.P280L LRP12_ENST00000424843.2_Missense_Mutation_p.P261L NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 280 CUB 2. 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) GCTTCCAGGAGGATAAAAGTC 0.393000 17 47 0 0 0.008871 0 0 KRT4 3851 broad.mit.edu 37 12 53207631 53207631 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:53207631C>T ENST00000551956.1 - 1 704 c.212G>A c.(211-213)gGt>gAt p.G71D KRT4_ENST00000458244.2_Missense_Mutation_p.G51D|KRT4_ENST00000293774.4_Missense_Mutation_p.G145D B4DRS2 B4DRS2_HUMAN keratin 4 71 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 AAAGCAGGCACCTTGTCGTGA 0.602000 86 238 0 0 0.014410 0 0 MME 4311 broad.mit.edu 37 3 154857980 154857980 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:154857980G>A ENST00000460393.1 + 10 976 c.855_splice c.e10-1 p.A286_splice MME_ENST00000360490.2_Splice_Site_p.A286_splice|MME_ENST00000462745.1_Splice_Site_p.A286_splice|MME_ENST00000493237.1_Splice_Site_p.A286_splice|MME_ENST00000492661.1_Splice_Site_p.A286_splice NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 286 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.A286T(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AAATCCATAGGCTACGGCTAA 0.299000 14 23 0 0 0.004007 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152215 11152215 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:11152215C>T ENST00000358026.2 + 31 4783 c.4499C>T c.(4498-4500)gCc>gTc p.A1500V SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1468V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1468V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1435V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1435V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1438V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1438V NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1468 Bromo. 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) ATTGTGGATGCCGTGATCAAG 0.612000 """F, N, Mis""" NSCLC 24 49 0 0 0.007291 0 0 EPC2 26122 broad.mit.edu 37 2 149528627 149528627 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:149528627G>A ENST00000258484.6 + 10 1425 c.1391G>A c.(1390-1392)cGa>cAa p.R464Q NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 464 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) ATAATGGACCGAATATCCACA 0.368000 10 26 0 0 0.006214 0 0 ACTL8 81569 broad.mit.edu 37 1 18152389 18152389 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:18152389C>T ENST00000375406.1 + 3 692 c.476C>T c.(475-477)cCt>cTt p.P159L NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 159 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CGCGTGCAGCCTTTCCACCAG 0.627000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 48 0 0 0.002780 0 0 SFTPB 6439 broad.mit.edu 37 2 85894911 85894911 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:85894911G>A ENST00000393822.3 - 3 221 c.122C>T c.(121-123)tCc>tTc p.S41F SFTPB_ENST00000519937.2_Missense_Mutation_p.S29F|SFTPB_ENST00000342375.3_Missense_Mutation_p.S29F|SFTPB_ENST00000409383.1_Missense_Mutation_p.S41F P07988 PSPB_HUMAN surfactant protein B 29 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome p.S29F(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 ACAGGCCAAGGATGAGGTGGT 0.577000 33 111 0 0 0.012213 0 0 IKZF4 64375 broad.mit.edu 37 12 56428559 56428559 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:56428559C>T ENST00000262032.5 + 12 1569 c.1202C>T c.(1201-1203)tCt>tTt p.S401F IKZF4_ENST00000547167.1_Missense_Mutation_p.S401F|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Missense_Mutation_p.S299F|IKZF4_ENST00000547791.1_Missense_Mutation_p.S356F Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 401 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GTCATCAGCTCTGTCTACACC 0.607000 29 101 0 0 0.008361 0 0 LRFN5 145581 broad.mit.edu 37 14 42360873 42360873 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:42360873T>C ENST00000298119.4 + 4 2995 c.1806T>C c.(1804-1806)tgT>tgC p.C602C LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 602 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) ATGCCCAGTGTTGTAAAGCTA 0.478000 HNSCC(30;0.082) 30 69 0 0 0.012213 0 0 LRCH4 4034 broad.mit.edu 37 7 100175447 100175447 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100175447G>A ENST00000310300.6 - 8 1089 c.1037C>T c.(1036-1038)tCa>tTa p.S346L LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 346 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTACTCACCTGAGCCATCCTC 0.637000 29 70 0 0 0.010818 0 0 OR4A47 403253 broad.mit.edu 37 11 48510731 48510731 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:48510731T>A ENST00000446524.1 + 1 463 c.387T>A c.(385-387)caT>caA p.H129Q NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 AGCCCTTGCATTATTTGGTTA 0.463000 9 41 0 0 0.004482 0 0 GSX2 170825 broad.mit.edu 37 4 54968083 54968083 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:54968083C>T ENST00000326902.2 + 2 1223 c.909C>T c.(907-909)ccC>ccT p.P303P GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 303 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) AGATTTCCCCCTTATGAGGGA 0.657000 11 20 0 0 0.008291 0 0 AHDC1 27245 broad.mit.edu 37 1 27875279 27875279 + Silent SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:27875279G>T ENST00000374011.2 - 6 4316 c.3348C>A c.(3346-3348)ggC>ggA p.G1116G AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.G1116G NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1116 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) CCCAGTCCAGGCCTCCATAGC 0.612000 37 128 2.6416e-12 2.69508e-12 0.006230 1 0 FLNC 2318 broad.mit.edu 37 7 128483328 128483328 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:128483328G>A ENST00000325888.8 + 17 2857 c.2596G>A c.(2596-2598)Gat>Aat p.D866N FLNC_ENST00000346177.6_Missense_Mutation_p.D866N NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 866 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 CCCATCCCACGATGCCAGCAA 0.647000 8 23 0 0 0.008291 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734935 140734935 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140734935C>T ENST00000571252.1 + 1 168 c.168C>T c.(166-168)ccC>ccT p.P56P PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTGGCGCCCCGGGAGCTGG 0.637000 54 93 0 0 0.014410 0 0 MROH2B 133558 broad.mit.edu 37 5 41065470 41065470 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:41065470G>A ENST00000399564.4 - 4 774 c.324C>T c.(322-324)ttC>ttT p.F108F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.F108F(1) CAAGCACAACGAATTCATCTG 0.418000 8 18 0 0 0.003080 0 0 FAIM2 23017 broad.mit.edu 37 12 50284486 50284486 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:50284486G>A ENST00000320634.3 - 7 599 c.505C>T c.(505-507)Ctg>Ttg p.L169L FAIM2_ENST00000550890.1_Silent_p.L123L NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 169 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 AGGAGAATCAGGTTCCAGGGG 0.592000 29 127 0 0 0.013726 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089784 43089784 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:43089784T>C ENST00000359467.3 - 5 728 c.614A>G c.(613-615)aAc>aGc p.N205S ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 205 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 CTGCAAAGTGTTCTCACGATG 0.363000 4 86 0 0 0.009096 0 0 KCNC4 3749 broad.mit.edu 37 1 110775514 110775514 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:110775514C>T ENST00000413138.3 + 4 1871 c.1863C>T c.(1861-1863)acC>acT p.T621T KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000369787.3_3'UTR Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 0 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) TGTCTCACACCTGTGCTCTTT 0.537000 17 14 0 0 0.004990 0 0 MAP2K3 5606 broad.mit.edu 37 17 21205551 21205551 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:21205551C>T ENST00000342679.4 + 6 745 c.496C>T c.(496-498)Ctt>Ttt p.L166F MAP2K3_ENST00000361818.5_Missense_Mutation_p.L137F|MAP2K3_ENST00000316920.6_Missense_Mutation_p.L137F NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 166 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AGAGGACATCCTTGGGGAGAT 0.582000 9 72 0 0 0.006214 0 0 SLC4A1 6521 broad.mit.edu 37 17 42340064 42340064 + Silent SNP G G A rs55786369 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:42340064G>A ENST00000262418.6 - 3 201 c.46C>T c.(46-48)Ctg>Ttg p.L16L AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 16 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCCTGCTCCAGATTCTCCTCC 0.587000 18 55 0 0 0.006122 0 0 CSMD3 114788 broad.mit.edu 37 8 113871468 113871468 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:113871468C>T ENST00000297405.5 - 11 1905 c.1661G>A c.(1660-1662)gGa>gAa p.G554E CSMD3_ENST00000343508.3_Missense_Mutation_p.G514E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G554E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G450E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 554 CUB 3. 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 ACCACTTGGTCCTTGAAGATT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 32 0 0 0.003163 0 0 PLXNA4 91584 broad.mit.edu 37 7 131848931 131848931 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:131848931G>A ENST00000359827.3 - 24 5432 c.4470C>T c.(4468-4470)ctC>ctT p.L1490L PLXNA4_ENST00000321063.4_Silent_p.L1490L Q9HCM2 PLXA4_HUMAN plexin A4 1490 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 GCTGGCGGATGAGCTTGTCCT 0.607000 20 68 0 0 0.014323 0 0 CNTN5 53942 broad.mit.edu 37 11 100179181 100179181 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:100179181G>A ENST00000524871.1 + 21 3001 c.2711G>A c.(2710-2712)gGa>gAa p.G904E CNTN5_ENST00000527185.1_Missense_Mutation_p.G904E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G830E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G904E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G904E|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 904 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GAGAGTCTAGGAAGACCACAG 0.423000 5 14 0 0 0.000602 0 0 FLG 2312 broad.mit.edu 37 1 152283748 152283748 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152283748T>A ENST00000368799.1 - 3 3649 c.3614A>T c.(3613-3615)gAt>gTt p.D1205V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1205 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGAGGCATCAGACCTTCC 0.557000 Ichthyosis 297 507 0 0 0.014410 0 0 ASTL 431705 broad.mit.edu 37 2 96803358 96803358 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:96803358C>T ENST00000342380.2 - 2 136 c.137G>A c.(136-138)gGa>gAa p.G46E NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 46 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 GGCCTGGGTTCCCTCAGGGGT 0.607000 85 185 0 0 0.014410 0 0 MYBPH 4608 broad.mit.edu 37 1 203143639 203143639 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:203143639G>A ENST00000255416.4 - 3 484 c.427C>T c.(427-429)Ctg>Ttg p.L143L NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 143 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) GACACGCGCAGGAGGAACTTG 0.637000 20 68 0 0 0.012319 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507081 71507081 + Nonsense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:71507081A>T ENST00000359244.4 + 4 303 c.280A>T c.(280-282)Aag>Tag p.K94* FAM86C1_ENST00000426628.2_Nonsense_Mutation_p.K87*|FAM86C1_ENST00000528685.1_Nonsense_Mutation_p.K60*|FAM86C1_ENST00000346333.6_Nonsense_Mutation_p.K60* NM_018172.2 NP_060642.2 Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 94 lung(1) 1 TATTGCCCAGAAGCCATCGTG 0.612000 11 122 0 0 0.003163 0 0 OR4M1 441670 broad.mit.edu 37 14 20249284 20249284 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20249284C>T ENST00000315957.4 + 1 884 c.803C>T c.(802-804)tCc>tTc p.S268F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTCATTTTCCCTAGATAAA 0.418000 36 136 0 0 0.004878 0 0 OR51B5 282763 broad.mit.edu 37 11 5363955 5363955 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5363955G>A ENST00000300773.2 - 1 854 c.800C>T c.(799-801)cCa>cTa p.P267L HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 267 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) AACAATATGTGGAACCTGCTT 0.408000 18 46 0 0 0.004990 0 0 IGHG1 3500 broad.mit.edu 37 14 106204123 106204123 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106204123C>T ENST00000390548.2 - 0 1175 CGATCATGTTCCTGTAGTCGG 0.647000 29 105 0 0 0.007291 0 0 OR4N2 390429 broad.mit.edu 37 14 20296446 20296446 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20296446C>T ENST00000315947.1 + 1 839 c.839C>T c.(838-840)cCt>cTt p.P280L OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 280 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) GTGATTTTTCCTTTGTTGAAT 0.438000 33 119 0 0 0.012213 0 0 RHCE 6006 broad.mit.edu 37 1 25715541 25715541 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:25715541G>A ENST00000349320.3 - 8 1205 c.817C>T c.(817-819)Cct>Tct p.P273S RHCE_ENST00000294413.7_Missense_Mutation_p.P289S|RHCE_ENST00000243186.6_Missense_Mutation_p.P289S|RHCE_ENST00000374352.2_Missense_Mutation_p.P273S|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.P289S|RHCE_ENST00000413854.1_Missense_Mutation_p.P289S|RHCE_ENST00000340849.4_Missense_Mutation_p.P184S|RHCE_ENST00000455194.1_Missense_Mutation_p.P184S|RHCE_ENST00000425135.1_Intron P18577 RHCE_HUMAN Rh blood group, CcEe antigens 289 A -> V (in Ref. 7; AAN75122). integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) CACGGAGAAGGGATCAGGTGA 0.557000 25 74 0 0 0.009535 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37252230 37252230 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:37252230C>T ENST00000373491.3 + 6 937 c.791C>T c.(790-792)aCc>aTc p.T264I NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 264 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CACCAGGATACCTACAGACAG 0.478000 42 74 0 0 0.008740 0 0 TRPM6 140803 broad.mit.edu 37 9 77415335 77415335 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:77415335G>A ENST00000451710.3 - 17 2310 c.2073C>T c.(2071-2073)gcC>gcT p.A691A TRPM6_ENST00000360774.1_Silent_p.A691A|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.A691A|TRPM6_ENST00000449912.2_Silent_p.A686A|TRPM6_ENST00000361255.3_Silent_p.A686A Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 691 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ACAGCGTCATGGCCATGCGCT 0.502000 33 67 0 0 0.013726 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357869 38357869 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38357869C>T ENST00000273173.4 + 9 1678 c.1587C>T c.(1585-1587)tcC>tcT p.S529S SLC22A14_ENST00000448498.1_Silent_p.S529S NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 529 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CCATCTTGTCCCTGACAATCA 0.622000 36 143 0 0 0.005524 0 0 KANK4 163782 broad.mit.edu 37 1 62703962 62703962 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:62703962G>A ENST00000371153.4 - 10 3353 c.2975C>T c.(2974-2976)tCc>tTc p.S992F KANK4_ENST00000354381.3_Missense_Mutation_p.S364F|KANK4_ENST00000317477.4_Missense_Mutation_p.S130F|KANK4_ENST00000371150.1_Missense_Mutation_p.S348F NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 992 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 CAGCCCCAGGGACCTGCCCTG 0.612000 21 42 0 0 0.012319 0 0 RECK 8434 broad.mit.edu 37 9 36080601 36080601 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:36080601G>A ENST00000377966.3 + 7 971 c.e7-1 RECK_ENST00000479053.1_Splice_Site NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TCAATTTACAGAATGCTCTTT 0.289000 9 23 0 0 0.008291 0 0 GCNT1 2650 broad.mit.edu 37 9 79117396 79117396 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:79117396G>A ENST00000442371.1 + 3 1038 c.99G>A c.(97-99)agG>agA p.R33R GCNT1_ENST00000376730.4_Silent_p.R33R|GCNT1_ENST00000536223.1_Silent_p.R33R|GCNT1_ENST00000444201.2_Silent_p.R33R NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 33 Stem region (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 CCGTTTTAAGGATTCATCAAA 0.398000 41 93 0 0 0.006999 0 0 MYH1 4619 broad.mit.edu 37 17 10401153 10401153 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10401153C>T ENST00000226207.5 - 31 4357 c.4263G>A c.(4261-4263)acG>acA p.T1421T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1421 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 GCCTCTGCTTCGTCTTCTCAA 0.473000 46 61 0 0 0.013114 0 0 PROM1 8842 broad.mit.edu 37 4 16037363 16037363 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:16037363G>C ENST00000510224.1 - 4 546 c.298C>G c.(298-300)Cta>Gta p.L100V PROM1_ENST00000447510.2_Missense_Mutation_p.L100V|PROM1_ENST00000543373.1_Intron|PROM1_ENST00000505450.1_Intron|PROM1_ENST00000540805.1_Missense_Mutation_p.L100V|PROM1_ENST00000508167.1_Intron|PROM1_ENST00000502943.1_Intron|PROM1_ENST00000539194.1_Missense_Mutation_p.L100V O43490 PROM1_HUMAN prominin 1 100 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TTTACCTTTAGACCTAAGATT 0.403000 30 114 0 0 0.003271 0 0 ATP5L2 267020 broad.mit.edu 37 22 43036159 43036159 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:43036159G>A ENST00000505920.1 - 1 448 c.122C>T c.(121-123)cCc>cTc p.P41L CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000361740.4_Intron NM_001165877.1 NP_001159349.1 Q7Z4Y8 AT5L2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 41 ATP synthesis coupled proton transport mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity endometrium(1)|kidney(1) 2 AGCAGGGGTGGGAGGAACCAG 0.498000 33 64 0 0 0.013726 0 0 ADH6 130 broad.mit.edu 37 4 100128614 100128614 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:100128614G>A ENST00000394899.2 - 7 1046 c.953C>T c.(952-954)tCt>tTt p.S318F ADH6_ENST00000407820.2_Missense_Mutation_p.S109F|ADH6_ENST00000394897.1_Intron|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.S318F NM_001102470.1 NP_001095940.1 P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 318 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TCCAAAAACAGAACCCTTCAA 0.463000 12 64 0 0 0.002450 0 0 TRPC7 57113 broad.mit.edu 37 5 135692503 135692503 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:135692503C>G ENST00000513104.1 - 2 855 c.573G>C c.(571-573)gaG>gaC p.E191D TRPC7_ENST00000426057.2_Missense_Mutation_p.E191D|TRPC7_ENST00000355180.3_Missense_Mutation_p.E191D NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 191 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) CGTGGGGCCGCTCGATGCGGG 0.612000 40 83 0 0 0.008740 0 0 CD96 10225 broad.mit.edu 37 3 111298075 111298075 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:111298075G>A ENST00000352690.4 + 4 985 c.745G>A c.(745-747)Gtt>Att p.V249I CD96_ENST00000283285.5_Missense_Mutation_p.V265I|CD96_ENST00000438817.2_Missense_Mutation_p.V249I NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 265 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 CACAGTCAAGGTTTTTGGTAA 0.502000 Opitz Trigonocephaly syndrome 36 80 0 0 0.004289 0 0 SRBD1 55133 broad.mit.edu 37 2 45829070 45829070 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:45829070G>A ENST00000263736.4 - 3 295 c.233C>T c.(232-234)tCa>tTa p.S78L NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 78 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) AACGACTTCTGAGCCATCACT 0.478000 62 217 0 0 0.014410 0 0 FREM1 158326 broad.mit.edu 37 9 14776177 14776177 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:14776177C>T ENST00000380881.4 - 26 5285 c.4470G>A c.(4468-4470)cgG>cgA p.R1490R FREM1_ENST00000422223.2_Silent_p.R1489R|FREM1_ENST00000380894.1_Silent_p.R25R|FREM1_ENST00000380880.3_Silent_p.R1489R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1489 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.R1490R(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CGTGCTCGGTCCGCAGTCCAT 0.527000 8 37 0 0 0.003080 0 0 CLEC4M 10332 broad.mit.edu 37 19 7831541 7831541 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:7831541G>A ENST00000327325.5 + 5 902 c.e5-1 CLEC4M_ENST00000357361.2_Splice_Site|CLEC4M_ENST00000596363.1_Splice_Site|CLEC4M_ENST00000248228.4_Splice_Site|CLEC4M_ENST00000597522.1_Splice_Site|CLEC4M_ENST00000359059.5_Splice_Site|CLEC4M_ENST00000595496.1_Splice_Site|CLEC4M_ENST00000334806.5_Splice_Site|CLEC4M_ENST00000596707.1_Splice_Site|CLEC4M_ENST00000394122.2_Splice_Site NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 TCCCCCAACAGAACGCCTGTG 0.557000 37 120 0 0 0.004878 0 0 SPAG1 6674 broad.mit.edu 37 8 101203629 101203629 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:101203629C>T ENST00000388798.2 + 9 1035 c.844C>T c.(844-846)Cgt>Tgt p.R282C SPAG1_ENST00000520643.1_Missense_Mutation_p.R282C|SPAG1_ENST00000520508.1_Missense_Mutation_p.R282C|SPAG1_ENST00000251809.3_Missense_Mutation_p.R282C NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 282 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TCTTCTGCGTCGTGCTACTAC 0.363000 11 62 0 0 0.010729 0 0 FAM216A 29902 broad.mit.edu 37 12 110925695 110925695 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:110925695G>A ENST00000377673.5 + 6 1162 c.650G>A c.(649-651)aGa>aAa p.R217K NM_013300.2 NP_037432.2 Q8WUB2 CL024_HUMAN family with sequence similarity 216, member A 217 TCTAAAACAAGATGTAAGTCA 0.358000 40 133 0 0 0.014410 0 0 MOAP1 64112 broad.mit.edu 37 14 93649576 93649576 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:93649576C>T ENST00000556883.1 - 2 1496 c.1012G>A c.(1012-1014)Gag>Aag p.E338K MOAP1_ENST00000298894.4_Missense_Mutation_p.E338K Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 338 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) AGGGCCTcctcctcctcagct 0.478000 57 116 0 0 0.014410 0 0 GHR 2690 broad.mit.edu 37 5 42719193 42719193 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:42719193C>T ENST00000230882.4 + 10 1774 c.1584C>T c.(1582-1584)ttC>ttT p.F528F GHR_ENST00000537449.1_Silent_p.F341F|GHR_ENST00000357703.3_Silent_p.F506F NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 528 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAGAAAACTTCCTTATGGACA 0.498000 11 53 0 0 0.010729 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468536 26468536 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:26468536G>A ENST00000312541.5 + 8 1591 c.1343G>A c.(1342-1344)tGc>tAc p.C448Y BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000541522.1_Missense_Mutation_p.C387Y NM_007049.3|NM_078476.2 NP_008980.1|NP_510961.1 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 448 B30.2/SPRY. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 GAGTCCCTTTGCCGGGTGGGC 0.532000 37 65 0 0 0.005524 0 0 MAT1A 4143 broad.mit.edu 37 10 82034872 82034872 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:82034872C>T ENST00000372213.3 - 7 1112 c.852G>A c.(850-852)ggG>ggA p.G284G MAT1A_ENST00000485270.1_5'UTR NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 284 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGTAGTCCTTCCCAGAGAAGG 0.607000 14 11 0 0 0.004007 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553172 140553172 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140553172C>T ENST00000231137.3 + 1 930 c.756C>T c.(754-756)ccC>ccT p.P252P NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 252 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) TGCAGGTGCCCGAAAATAGCC 0.522000 53 82 0 0 0.014410 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622736 74622736 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:74622736C>T ENST00000156626.7 - 5 1507 c.1308G>A c.(1306-1308)ggG>ggA p.G436G NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 436 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 TGCTCACCTTCCCAAGAGGCA 0.562000 307 866 0 0 0.014410 0 0 KIAA1217 56243 broad.mit.edu 37 10 24669879 24669879 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:24669879G>A ENST00000376454.3 + 3 466 c.436G>A c.(436-438)Gat>Aat p.D146N KIAA1217_ENST00000376462.1_Missense_Mutation_p.D66N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D67N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D146N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D146N NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 146 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GACGTCCGCTGATTCTTTGGA 0.547000 35 51 0 0 0.003271 0 0 MYO3A 53904 broad.mit.edu 37 10 26414347 26414347 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:26414347C>T ENST00000265944.5 + 19 2090 c.1924C>T c.(1924-1926)Cgg>Tgg p.R642W MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 642 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 p.R642W(1) 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 GCTTTGCATTCGGGCAGATGA 0.418000 19 24 0 0 0.006122 0 0 SCMH1 22955 broad.mit.edu 37 1 41579192 41579192 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:41579192G>A ENST00000402904.2 - 8 846 c.478C>T c.(478-480)Cca>Tca p.P160S SCMH1_ENST00000397171.2_Missense_Mutation_p.P99S|SCMH1_ENST00000397174.2_Missense_Mutation_p.P140S|SCMH1_ENST00000326197.7_Missense_Mutation_p.P160S|SCMH1_ENST00000361191.5_Missense_Mutation_p.P99S|SCMH1_ENST00000372595.1_Missense_Mutation_p.P99S|SCMH1_ENST00000337495.5_Missense_Mutation_p.P170S|SCMH1_ENST00000361705.3_Missense_Mutation_p.P113S|SCMH1_ENST00000372597.1_Missense_Mutation_p.P113S|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372596.1_Missense_Mutation_p.P99S NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 160 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) GAAGGCGATGGTGGCTCCTAG 0.438000 15 49 0 0 0.004007 0 0 DNAH11 8701 broad.mit.edu 37 7 21826324 21826324 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:21826324C>T ENST00000328843.6 + 60 9732 c.9701C>T c.(9700-9702)gCt>gTt p.A3234V DNAH11_ENST00000409508.3_Missense_Mutation_p.A3227V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3234 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 GTCCTTCTGGCTCCTCGGGGA 0.502000 Kartagener syndrome 13 93 0 0 0.003163 0 0 ACOT4 122970 broad.mit.edu 37 14 74062020 74062020 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:74062020C>T ENST00000326303.4 + 3 1182 c.928C>T c.(928-930)Cca>Tca p.P310S NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 310 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) CAGCATGATTCCAATAGAGAA 0.493000 34 99 0 0 0.003755 0 0 ZNF208 7757 broad.mit.edu 37 19 22157237 22157237 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22157237G>A ENST00000397126.4 - 4 747 c.599C>T c.(598-600)tCc>tTc p.S200F ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTTGTAGGAATTCTCTCT 0.353000 12 65 0 0 0.001855 0 0 GRIP1 23426 broad.mit.edu 37 12 66838419 66838419 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:66838419G>A ENST00000359742.4 - 13 1872 c.1632C>T c.(1630-1632)ctC>ctT p.L544L GRIP1_ENST00000398016.3_Silent_p.L492L|GRIP1_ENST00000286445.7_Silent_p.L544L Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 544 PDZ 4. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AAGAGTCTCGGAGGAGCTGAC 0.448000 62 118 0 0 0.014410 0 0 NOS1 4842 broad.mit.edu 37 12 117655926 117655926 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:117655926C>T ENST00000317775.6 - 28 4899 c.4214G>A c.(4213-4215)cGa>cAa p.R1405Q NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1439Q NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1405 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTCGTACGTTCGCAGGGTGAC 0.478000 166 413 0 0 0.014410 0 0 SHCBP1 79801 broad.mit.edu 37 16 46617964 46617964 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:46617964G>A ENST00000303383.3 - 11 1768 c.1502C>T c.(1501-1503)aCc>aTc p.T501I NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 501 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) GTCACTCAGGGTGCACTGACT 0.423000 7 14 0 0 0.003080 0 0 HIRA 7290 broad.mit.edu 37 22 19346879 19346879 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:19346879G>A ENST00000263208.5 - 18 2470 c.2214C>T c.(2212-2214)atC>atT p.I738I HIRA_ENST00000340170.4_Intron|HIRA_ENST00000541063.1_Silent_p.I694I|HIRA_ENST00000546308.1_Silent_p.I694I NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 738 Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CAGCAGTGAGGATCCGGCTGG 0.632000 30 95 0 0 0.004289 0 0 GPR111 222611 broad.mit.edu 37 6 47650193 47650193 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:47650193C>T ENST00000398742.2 + 5 1743 c.1694C>T c.(1693-1695)gCc>gTc p.A565V GPR111_ENST00000296862.1_Missense_Mutation_p.A633V|GPR111_ENST00000507065.1_Missense_Mutation_p.A565V Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 633 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 CAGCGAGCTGCCATTGGCAAT 0.522000 12 34 0 0 0.010729 0 0 PDE8B 8622 broad.mit.edu 37 5 76700600 76700600 + Silent SNP G G A rs146656374 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:76700600G>A ENST00000264917.5 + 12 1311 c.1266G>A c.(1264-1266)tcG>tcA p.S422S PDE8B_ENST00000333194.4_Silent_p.S422S|PDE8B_ENST00000340978.3_Silent_p.S375S|PDE8B_ENST00000342343.4_Silent_p.S402S|PDE8B_ENST00000346042.3_Silent_p.S325S NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 422 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.S422S(1) 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) ACGTGAAATCGATATCATCTC 0.358000 59 108 0 0 0.014410 0 0 COQ2 27235 broad.mit.edu 37 4 84193263 84193263 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:84193263G>A ENST00000311469.4 - 4 754 c.755C>T c.(754-756)tCa>tTa p.S252L COQ2_ENST00000439031.2_Missense_Mutation_p.S215L|COQ2_ENST00000311461.7_Missense_Mutation_p.S202L NM_015697.7 NP_056512.5 Q96H96 COQ2_HUMAN coenzyme Q2 4-hydroxybenzoate polyprenyltransferase 202 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1) 8 Hepatocellular(203;0.114) AGGCCAGTATGAAATTCTTTT 0.363000 3 13 0 0 0.009096 0 0 ACTA1 58 broad.mit.edu 37 1 229568051 229568051 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:229568051G>A ENST00000366684.3 - 4 684 c.582C>T c.(580-582)atC>atT p.I194I ACTA1_ENST00000366683.2_Intron NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 194 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GCTCAGTGAGGATCTTCATCA 0.687000 24 66 0 0 0.003954 0 0 HOXA9 3205 broad.mit.edu 37 7 27204900 27204900 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:27204900C>T ENST00000343483.6 - 1 249 c.177G>A c.(175-177)aaG>aaA p.K59K HOXA9_ENST00000396345.1_Silent_p.K59K|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 59 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 ACACCGTCGCCTTGGACTGGA 0.716000 T """NUP98, MSI2""" AML* 7 7 0 0 0.001984 0 0 PRKAB1 5564 broad.mit.edu 37 12 120110193 120110193 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:120110193C>T ENST00000229328.5 + 2 739 c.247C>T c.(247-249)Cga>Tga p.R83* PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.R83*|PRKAB1_ENST00000540121.1_5'UTR NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 83 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) AACGGTGTTTCGATGGACGGG 0.537000 75 231 0 0 0.014410 0 0 PASD1 139135 broad.mit.edu 37 X 150791502 150791502 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:150791502G>A ENST00000370357.4 + 7 757 c.512G>A c.(511-513)gGa>gAa p.G171E NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 171 nucleus signal transducer activity 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) TATCTTGTGGGAAATGTTTGC 0.512000 24 49 0 0 0.002780 0 0 MYO18B 84700 broad.mit.edu 37 22 26164563 26164563 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:26164563G>A ENST00000335473.7 + 4 930 c.680G>A c.(679-681)gGa>gAa p.G227E MYO18B_ENST00000407587.2_Missense_Mutation_p.G227E|MYO18B_ENST00000536101.1_Missense_Mutation_p.G227E NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 227 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.G227E(1) 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 CCAGGCCAAGGAACTGTGGCA 0.617000 9 24 0 0 0.008291 0 0 DLGAP4 22839 broad.mit.edu 37 20 35075302 35075302 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:35075302C>T ENST00000373913.3 + 7 2090 c.1610C>T c.(1609-1611)cCc>cTc p.P537L DLGAP4_ENST00000373907.2_Missense_Mutation_p.P537L|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P537L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P537L Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 537 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TCCCCACCGCCCAGTACCGGC 0.602000 14 68 0 0 0.004990 0 0 ANGPT1 284 broad.mit.edu 37 8 108334242 108334242 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:108334242G>A ENST00000520734.1 - 3 375 c.90C>T c.(88-90)atC>atT p.I30I ANGPT1_ENST00000520052.1_Silent_p.I30I Q15389 ANGP1_HUMAN angiopoietin 1 230 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CCAGCTCCTGGATTATATATG 0.423000 15 50 0 0 0.003163 0 0 CHRM2 1129 broad.mit.edu 37 7 136700491 136700491 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:136700491C>T ENST00000445907.2 + 3 1407 c.879C>T c.(877-879)gcC>gcT p.A293A CHRM2_ENST00000397608.3_Silent_p.A293A|CHRM2_ENST00000320658.5_Silent_p.A293A|CHRM2_ENST00000453373.1_Silent_p.A293A|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.A293A|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.A293A|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 293 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) GTGCTGTTGCCTCTAATATGA 0.473000 9 35 0 0 0.006214 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669609 234669609 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:234669609G>A ENST00000360418.3 + 1 676 c.676G>A c.(676-678)Gtt>Att p.V226I UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V226I|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000373450.4_Intron P22309 UD11_HUMAN 226 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GTGCGACGTGGTTTATTCCCC 0.507000 129 254 0 0 0.014410 0 0 KCNK5 8645 broad.mit.edu 37 6 39159357 39159357 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:39159357G>A ENST00000359534.3 - 5 1147 c.809C>T c.(808-810)tCc>tTc p.S270F NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 270 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGAGTGTGGGGAGCTCTCAAA 0.547000 96 233 0 0 0.014410 0 0 DNAH17 8632 broad.mit.edu 37 17 76503579 76503579 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:76503579C>T ENST00000389840.5 - 28 4657 c.4533G>A c.(4531-4533)ggG>ggA p.G1511G DNAH17_ENST00000585328.1_Silent_p.G1512G 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) GCTGGGAGTCCCCCGGGAGCT 0.582000 17 66 0 0 0.004990 0 0 CSMD2 114784 broad.mit.edu 37 1 34066481 34066481 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:34066481G>A ENST00000373381.4 - 44 7016 c.6840C>T c.(6838-6840)ttC>ttT p.F2280F CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.F379F|CSMD2_ENST00000373380.1_Silent_p.F1153F|CSMD2_ENST00000373388.2_Silent_p.F379F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2282 CUB 13. integral to membrane|plasma membrane protein binding p.F2282F(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AAGCTATGGCGAAGATCCCCC 0.577000 34 88 0 0 0.003271 0 0 SH3D21 79729 broad.mit.edu 37 1 36785831 36785831 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:36785831G>A ENST00000453908.2 + 14 1595 c.1567G>A c.(1567-1569)Gat>Aat p.D523N SH3D21_ENST00000426732.2_Missense_Mutation_p.D407N|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.D412N|SH3D21_ENST00000312808.4_Missense_Mutation_p.D169N NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 407 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 AGCCAAAGAGGATCCATCATC 0.537000 36 90 0 0 0.003755 0 0 YLPM1 56252 broad.mit.edu 37 14 75265731 75265731 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:75265731G>A ENST00000325680.7 + 5 3855 c.3731G>A c.(3730-3732)aGa>aAa p.R1244K YLPM1_ENST00000238571.3_Missense_Mutation_p.R1049K|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1049 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) CTCTATAACAGAGAGGACAGG 0.493000 10 34 0 0 0.008291 0 0 DEPDC5 9681 broad.mit.edu 37 22 32302432 32302432 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:32302432G>A ENST00000266091.3 + 42 4837 c.4695G>A c.(4693-4695)ctG>ctA p.L1565L DEPDC5_ENST00000539165.1_Silent_p.L404L|DEPDC5_ENST00000400246.1_3'UTR|DEPDC5_ENST00000400248.1_Silent_p.L1556L|DEPDC5_ENST00000400249.2_Silent_p.L1556L|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000535622.1_Silent_p.L1487L|DEPDC5_ENST00000382112.3_Silent_p.L1578L|DEPDC5_ENST00000382111.2_3'UTR O75140 DEPD5_HUMAN DEP domain containing 5 1556 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACAACCGGCTGGTCACGTTCT 0.592000 108 417 0 0 0.014410 0 0 MSANTD2 79684 broad.mit.edu 37 11 124637140 124637140 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:124637140G>A ENST00000526629.1 - 3 2369 c.922C>T c.(922-924)Ctt>Ttt p.L308F MSANTD2_ENST00000374979.3_Missense_Mutation_p.L538F|MSANTD2_ENST00000239614.4_Missense_Mutation_p.L486F Q6P1R3 CK061_HUMAN Myb/SANT-like DNA-binding domain containing 2 538 CCTGCGGAAAGAAAATCCCTC 0.413000 43 83 0 0 0.007835 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947137 57947137 + Missense_Mutation SNP C C T rs147196085 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:57947137C>T ENST00000335397.3 + 3 537 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GTCTGCTACTCATCTATCACT 0.493000 45 64 0 0 0.014410 0 0 CYLD 1540 broad.mit.edu 37 16 50783723 50783723 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:50783723C>T ENST00000540145.1 + 4 529 c.114C>T c.(112-114)ctC>ctT p.L38L CYLD_ENST00000311559.9_Silent_p.L38L|CYLD_ENST00000568704.2_Silent_p.L38L|CYLD_ENST00000564326.1_Silent_p.L38L|CYLD_ENST00000566206.1_Silent_p.L38L|CYLD_ENST00000569418.1_Silent_p.L38L|CYLD_ENST00000427738.3_Silent_p.L38L|CYLD_ENST00000398568.2_Silent_p.L38L Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 38 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) CACAAAAGCTCCTTAAAGTAC 0.408000 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 26 62 0 0 0.006320 0 0 PTPRD 5789 broad.mit.edu 37 9 8338977 8338977 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:8338977G>A ENST00000381196.4 - 40 5867 c.5324C>T c.(5323-5325)gCt>gTt p.A1775V PTPRD_ENST00000397617.3_Missense_Mutation_p.A1368V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1775V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1762V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1365V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1753V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1369V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1368V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1775V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A1368V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1365V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1775 Tyrosine-protein phosphatase 2. 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) GTTGTACTCAGCCATGGGATC 0.418000 TSP Lung(15;0.13) 18 56 0 0 0.006122 0 0 KRT28 162605 broad.mit.edu 37 17 38955789 38955789 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:38955789C>T ENST00000306658.7 - 1 422 c.357G>A c.(355-357)aaG>aaA p.K119K NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 119 Coil 1A.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CATACCAACCCTTGATTTTTC 0.423000 63 208 0 0 0.014410 0 0 TRPM5 29850 broad.mit.edu 37 11 2444171 2444171 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:2444171C>T ENST00000452833.1 - 1 104 c.96G>A c.(94-96)ggG>ggA p.G32G TRPM5_ENST00000533060.1_Silent_p.G32G|TRPM5_ENST00000155858.6_Silent_p.G32G|TRPM5_ENST00000528453.1_Silent_p.G32G Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 32 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TCTTCCCAGACCCTCCAAAGT 0.647000 79 155 0 0 0.014410 0 0 SECISBP2 79048 broad.mit.edu 37 9 91964815 91964815 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:91964815C>T ENST00000375807.3 + 13 1934 c.1863C>T c.(1861-1863)ttC>ttT p.F621F SECISBP2_ENST00000339901.4_Silent_p.F548F|SECISBP2_ENST00000534113.2_Silent_p.F553F NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 621 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 ACACCACCTTCCCTAAGATCC 0.567000 33 68 0 0 0.003755 0 0 CAPN11 11131 broad.mit.edu 37 6 44149024 44149024 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:44149024C>T ENST00000398776.1 + 19 1943 c.1905C>T c.(1903-1905)ttC>ttT p.F635F CAPN11_ENST00000542245.1_Silent_p.F635F NM_007058.3 NP_008989.2 Q9UMQ6 CAN11_HUMAN calpain 11 635 Domain IV.|EF-hand 1. 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) TTCTAGAGTTCAAGATCCTGT 0.512000 25 85 0 0 0.006320 0 0 SCEL 8796 broad.mit.edu 37 13 78191759 78191759 + Nonsense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:78191759A>T ENST00000535157.1 + 23 1521 c.1351A>T c.(1351-1353)Aag>Tag p.K451* SCEL_ENST00000377246.3_Nonsense_Mutation_p.K473*|SCEL_ENST00000349847.3_Nonsense_Mutation_p.K493*|SCEL_ENST00000469982.1_3'UTR NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 493 16 X approximate tandem repeats. 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) TAAACTCATCAAGGTGAATCC 0.284000 6 20 0 0 0.001984 0 0 TAF1C 9013 broad.mit.edu 37 16 84212933 84212933 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:84212933C>T ENST00000567759.1 - 14 2406 c.2224G>A c.(2224-2226)Gag>Aag p.E742K TAF1C_ENST00000570117.1_Missense_Mutation_p.E410K|TAF1C_ENST00000541676.1_Missense_Mutation_p.E649K|TAF1C_ENST00000566732.1_Missense_Mutation_p.E716K|TAF1C_ENST00000378541.4_Missense_Mutation_p.E742K|TAF1C_ENST00000341690.6_Missense_Mutation_p.E648K NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 742 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 CTCCCGGGCTCCGAGGTCCTG 0.687000 6 31 0 0 0.001984 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277513 140277513 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:140277513C>T ENST00000458420.3 + 12 2045 c.1855C>T c.(1855-1857)Cct>Tct p.P619S NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 619 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CATCAGTATCCCTGAGGTAGA 0.532000 HNSCC(16;0.037) 30 79 0 0 0.009535 0 0 DPH6 89978 broad.mit.edu 37 15 35742939 35742939 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:35742939C>T ENST00000256538.4 - 5 478 c.452G>A c.(451-453)aGa>aAa p.R151K NM_080650.3 NP_542381.1 diphthamine biosynthesis 6 TATCATCTCTCTGAGCAAATC 0.388000 56 144 0 0 0.014410 0 0 FAM47A 158724 broad.mit.edu 37 X 34150082 34150082 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:34150082G>A ENST00000346193.3 - 1 365 c.314C>T c.(313-315)tCc>tTc p.S105F NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 105 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGAGAGCTTGGAAAATAGGGC 0.547000 62 96 0 0 0.014410 0 0 CTCF 10664 broad.mit.edu 37 16 67650694 67650694 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67650694C>T ENST00000264010.4 + 5 1443 c.999C>T c.(997-999)acC>acT p.T333T CTCF_ENST00000401394.1_Silent_p.T5T NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 333 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CCTTTGTGACCAGTGGAGAAT 0.498000 58 294 0 0 0.014410 0 0 KLHDC9 126823 broad.mit.edu 37 1 161069387 161069387 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:161069387G>A ENST00000392192.2 + 3 848 c.706G>A c.(706-708)Gga>Aga p.G236R KLHDC9_ENST00000490724.2_Splice_Site|KLHDC9_ENST00000368011.4_Splice_Site NM_001007255.2 NP_001007256.1 Q8NEP7 KLDC9_HUMAN kelch domain containing 9 0 lung(5)|upper_aerodigestive_tract(1) 6 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TTCTCCCCAAGGAGGAACCAC 0.507000 220 756 0 0 0.014410 0 0 MYH7B 57644 broad.mit.edu 37 20 33568445 33568445 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:33568445C>T ENST00000262873.7 + 6 625 c.533C>T c.(532-534)tCc>tTc p.S178F MYH7B_ENST00000481922.1_3'UTR NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 136 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TATACGGCCTCCGTAGTGGCT 0.537000 83 258 0 0 0.014410 0 0 NXPE4 54827 broad.mit.edu 37 11 114453326 114453326 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:114453326C>T ENST00000375478.3 - 3 694 c.514G>A c.(514-516)Gag>Aag p.E172K NXPE4_ENST00000424261.2_Intron NM_001077639.1 NP_001071107.1 neurexophilin and PC-esterase domain family, member 4 ACCTGGCCCTCCCAGAACAGA 0.572000 9 18 0 0 0.004482 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898790 48898790 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:48898790G>A ENST00000394754.1 + 10 3526 c.3412G>A c.(3412-3414)Gat>Aat p.D1138N STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1138N|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D400N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1138N|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.D434N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D1138N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1091N NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1091 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTTGACACGGATAATGTTAT 0.348000 28 130 0 0 0.003755 0 0 FAM214A 56204 broad.mit.edu 37 15 52892383 52892383 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:52892383G>A ENST00000261844.7 - 9 2742 c.2590C>T c.(2590-2592)Cca>Tca p.P864S FAM214A_ENST00000546305.2_Missense_Mutation_p.P871S NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 864 CTCAAAAATGGTTTTTCATGA 0.308000 32 64 0 0 0.004289 0 0 SAMD14 201191 broad.mit.edu 37 17 48191655 48191655 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:48191655C>T ENST00000330175.4 - 8 1155 c.838G>A c.(838-840)Gat>Aat p.D280N SAMD14_ENST00000503131.1_Missense_Mutation_p.D308N NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 280 p.D308N(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GTGGAGTCATCACTCAGAGTG 0.577000 28 65 0 0 0.008361 0 0 ZFHX3 463 broad.mit.edu 37 16 72821663 72821663 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:72821663G>A ENST00000268489.5 - 10 11184 c.10512C>T c.(10510-10512)gtC>gtT p.V3504V AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.V2590V NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3504 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgGTGGGGACGTGAAGCA 0.736000 19 56 0 0 0.006122 0 0 APOH 350 broad.mit.edu 37 17 64210703 64210703 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:64210703C>T ENST00000205948.6 - 7 887 c.850G>A c.(850-852)Gaa>Aaa p.E284K NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 284 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TTAAATTTTTCCTGAATCTTT 0.358000 54 139 0 0 0.014410 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564535 176564535 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:176564535G>A ENST00000367662.3 + 3 2959 c.1795G>A c.(1795-1797)Gag>Aag p.E599K PAPPA2_ENST00000367661.3_Missense_Mutation_p.E599K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 599 Metalloprotease. 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 TTGTGACCCCGAGTGTGAGCA 0.612000 68 108 0 0 0.014410 0 0 ATF7IP 55729 broad.mit.edu 37 12 14650954 14650954 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:14650954C>T ENST00000544627.1 + 15 4104 c.3784C>T c.(3784-3786)Cct>Tct p.P1262S ATF7IP_ENST00000261168.4_Missense_Mutation_p.P1254S|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P1254S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P1253S Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1254 Interaction with MBD1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 ACGTTTTGGGCCTTTCTGTGA 0.433000 57 240 0 0 0.014410 0 0 SRGAP3 9901 broad.mit.edu 37 3 9027574 9027574 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:9027574C>T ENST00000383836.3 - 22 3356 c.2929G>A c.(2929-2931)Gaa>Aaa p.E977K SRGAP3_ENST00000360413.3_Missense_Mutation_p.E953K NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 977 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) CTCTCGAGTTCCCGCAACTCG 0.647000 T RAF1 pilocytic astrocytoma 68 90 0 0 0.014410 0 0 LHX2 9355 broad.mit.edu 37 9 126777551 126777551 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:126777551G>A ENST00000373615.4 + 3 1213 c.474G>A c.(472-474)atG>atA p.M158I NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 158 LIM zinc-binding 2. nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 ACTTCGGCATGAAGGACAGCC 0.622000 81 206 0 0 0.014410 0 0 THSD7B 80731 broad.mit.edu 37 2 137814118 137814118 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:137814118G>A ENST00000409968.1 + 3 446 c.268G>A c.(268-270)Gaa>Aaa p.E90K THSD7B_ENST00000413152.2_Missense_Mutation_p.E59K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E90K 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) GCCTCCAAAGGAAAGAAGTTG 0.537000 18 51 0 0 0.006122 0 0 LRRC7 57554 broad.mit.edu 37 1 70501887 70501887 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:70501887A>C ENST00000310961.5 + 20 2398 c.1980A>C c.(1978-1980)aaA>aaC p.K660N LRRC7_ENST00000035383.5_Missense_Mutation_p.K655N|LRRC7_ENST00000415775.2_Intron Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 655 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 ACCCACCCAAACTTGTTCTGC 0.403000 20 46 0 0 0.002780 0 0 KLK10 5655 broad.mit.edu 37 19 51520527 51520527 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51520527G>A ENST00000309958.3 - 3 326 c.108C>T c.(106-108)ctC>ctT p.L36L KLK10_ENST00000391805.1_Silent_p.L36L|KLK10_ENST00000358789.3_Silent_p.L36L NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 36 cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CGTTTTGGGGGAGCAGCGCCG 0.667000 OREG0025646 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 21 0 0 0.004990 0 0 C10orf107 219621 broad.mit.edu 37 10 63519881 63519881 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:63519881C>T ENST00000330194.2 + 5 658 c.353C>T c.(352-354)tCa>tTa p.S118L NM_173554.2 NP_775825.1 Q8IVU9 CJ107_HUMAN chromosome 10 open reading frame 107 118 breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1) 8 Prostate(12;0.016) GAAGGAATCTCATTTGATATT 0.393000 5 16 0 0 0.001984 0 0 C10orf118 55088 broad.mit.edu 37 10 115889665 115889665 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:115889665G>A ENST00000369287.3 - 13 2433 c.2167C>T c.(2167-2169)Cgt>Tgt p.R723C C10orf118_ENST00000543782.1_Missense_Mutation_p.R321C NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 723 Ser-rich. 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) GAACTAGAACGACTTCCCATG 0.368000 40 40 0 0 0.010771 0 0 MYOM3 127294 broad.mit.edu 37 1 24413234 24413234 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:24413234C>T ENST00000330966.7 - 15 1863 c.1701G>A c.(1699-1701)gaG>gaA p.E567E RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.E566E|MYOM3_ENST00000374434.3_Silent_p.E566E Q5VTT5 MYOM3_HUMAN myomesin 3 566 Fibronectin type-III 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACTTCTTTTTCTCCAGGTCCA 0.582000 55 108 0 0 0.014410 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857410 101857410 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:101857410C>T ENST00000604957.1 + 1 2963 c.341C>T c.(340-342)tCt>tTt p.S114F ARMCX5_ENST00000536530.1_Missense_Mutation_p.S114F|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S114F|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S114F|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.S114F|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S114F NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 114 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 ATGCCTATGTCTAGGGTCAGT 0.448000 70 92 0 0 0.014410 0 0 OR2T8 343172 broad.mit.edu 37 1 248084543 248084543 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248084543C>T ENST00000319968.4 + 1 224 c.224C>T c.(223-225)aCt>aTt p.T75I NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 75 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) GTTTCCACCACTGTGCCCAAA 0.577000 8 284 0 0 0.010729 0 0 ZNF251 90987 broad.mit.edu 37 8 145948171 145948171 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145948171G>A ENST00000292562.7 - 5 1149 c.874C>T c.(874-876)Ccc>Tcc p.P292S ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 292 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) CAGCCAAAGGGTTTTTCTCCA 0.423000 37 78 0 0 0.004878 0 0 TNIP3 79931 broad.mit.edu 37 4 122068317 122068317 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:122068317C>T ENST00000454328.1 - 9 849 c.622G>A c.(622-624)Gaa>Aaa p.E208K TNIP3_ENST00000507879.1_Missense_Mutation_p.E278K|TNIP3_ENST00000509841.1_Missense_Mutation_p.E285K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E208K|TNIP3_ENST00000511909.1_5'UTR Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 208 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AAGTCTTCTTCGTATATTTGC 0.368000 32 53 0 0 0.012213 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12942930 12942930 + Missense_Mutation SNP G G A rs76269416 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12942930G>A ENST00000235349.5 - 2 356 c.286C>T c.(286-288)Cgt>Tgt p.R96C NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 96 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) CACCTGGGACGAACCCCTAGG 0.622000 19 18 0 0 0.012319 0 0 PATE2 399967 broad.mit.edu 37 11 125647308 125647308 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:125647308C>T ENST00000358524.3 - 4 356 c.311G>A c.(310-312)aGt>aAt p.S104N PATE2_ENST00000436890.2_Missense_Mutation_p.S61N NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 104 extracellular space endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 GCAGTAGTTACTATGATCACA 0.448000 21 31 0 0 0.002780 0 0 TEX19 400629 broad.mit.edu 37 17 80320137 80320137 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:80320137C>T ENST00000333437.4 + 2 421 c.111C>T c.(109-111)tgC>tgT p.C37C NM_207459.3 NP_997342.1 Q8NA77 TEX19_HUMAN testis expressed 19 37 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 GCTTCACCTGCTTCAAGGCTG 0.517000 85 212 0 0 0.014410 0 0 ZP2 7783 broad.mit.edu 37 16 21213444 21213444 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:21213444C>T ENST00000574002.1 - 12 1750 c.1268G>A c.(1267-1269)gGa>gAa p.G423E AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.G423E|ZP2_ENST00000219593.4_Missense_Mutation_p.G423E Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 423 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CGTTCCACATCCATTCAGGGG 0.498000 21 34 0 0 0.008871 0 0 MOB3B 79817 broad.mit.edu 37 9 27359163 27359163 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:27359163G>A ENST00000262244.5 - 3 914 c.490C>T c.(490-492)Cac>Tac p.H164Y MOB3B_ENST00000603061.1_5'UTR NM_024761.4 NP_079037.3 Q86TA1 MOL2B_HUMAN MOB kinase activator 3B 164 metal ion binding|protein binding ATATAGACGTGGACAAAGACC 0.458000 77 276 0 0 0.014410 0 0 GUCY2C 2984 broad.mit.edu 37 12 14832636 14832636 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:14832636C>T ENST00000261170.3 - 6 921 c.785G>A c.(784-786)cGa>cAa p.R262Q RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 262 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 p.R262L(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGCCACTGCTCGGTCACCCTT 0.418000 25 81 0 0 0.010818 0 0 HSDL2 84263 broad.mit.edu 37 9 115216316 115216316 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:115216316G>A ENST00000398805.3 + 9 1116 c.889G>A c.(889-891)Gag>Aag p.E297K HSDL2_ENST00000262542.7_Missense_Mutation_p.E177K|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224K|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92K NM_032303.4 NP_115679.2 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 297 peroxisome oxidoreductase activity|sterol binding NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 13 ATTCAAAGAAGAGAAACTGCA 0.403000 22 71 0 0 0.012319 0 0 ERBB4 2066 broad.mit.edu 37 2 212587181 212587181 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:212587181G>A ENST00000342788.4 - 7 1130 c.820C>T c.(820-822)Caa>Taa p.Q274* ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q274*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q274* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 274 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 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) TGCTCCAGTTGAAAGGTGGTT 0.388000 TSP Lung(8;0.080) 23 46 0 0 0.002780 0 0 TRANK1 9881 broad.mit.edu 37 3 36893308 36893308 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:36893308G>A ENST00000429976.2 - 14 4904 c.4657C>T c.(4657-4659)Cca>Tca p.P1553S TRANK1_ENST00000428977.2_Missense_Mutation_p.P1003S|TRANK1_ENST00000301807.6_Missense_Mutation_p.P1003S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1553 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 AGCTCTTCTGGAATTTTCTCC 0.383000 5 13 0 0 0.000602 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110505901 110505901 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110505901G>A ENST00000378402.5 + 63 10352 c.10248G>A c.(10246-10248)ggG>ggA p.G3416G NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3416 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) TAAATAGAGGGACCAATACAG 0.353000 HNSCC(38;0.096) 4 15 0 0 0.000602 0 0 SCN4A 6329 broad.mit.edu 37 17 62041908 62041908 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:62041908G>A ENST00000435607.1 - 9 1448 c.1372C>T c.(1372-1374)Ctg>Ttg p.L458L SCN4A_ENST00000578147.1_Silent_p.L458L NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 458 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCCTCGGCCAGGGTGGCCTCA 0.527000 25 65 0 0 0.003954 0 0 CTAGE1 64693 broad.mit.edu 37 18 19995558 19995558 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:19995558G>A ENST00000391403.2 - 1 2320 c.2217C>T c.(2215-2217)ttC>ttT p.F739F NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 739 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) GGGCTGGGGGGAAAAATGCAG 0.498000 25 27 0 0 0.003330 0 0 XIST 7503 broad.mit.edu 37 X 73065803 73065803 + RNA SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:73065803T>A ENST00000429829.1 - 0 6785 NR_001564.2 CTTATTCAGATGGAATGGGCA 0.463000 66 95 0 0 0.014410 0 0 PTPN7 5778 broad.mit.edu 37 1 202127303 202127303 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:202127303G>A ENST00000309017.3 - 3 1337 c.564C>T c.(562-564)acC>acT p.T188T PTPN7_ENST00000367279.4_Silent_p.T122T|PTPN7_ENST00000308986.5_Silent_p.T83T|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR NM_001199797.1|NM_002832.3 NP_001186726.1|NP_002823.3 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 7 83 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 GGGCCCAGCGGGTAAGGGGGT 0.597000 52 93 0 0 0.014410 0 0 TRAV12-3 28672 broad.mit.edu 37 14 22433707 22433707 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22433707G>A ENST00000390442.3 + 0 28 TTTAAGGTTTGAATCCTCAGT 0.363000 9 22 0 0 0.006214 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99117470 99117470 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:99117470C>T ENST00000394170.2 + 4 825 c.574C>T c.(574-576)Cct>Tct p.P192S ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P192S|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P192S NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 192 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) TCTCCAAGTTCCTTCCCTTCC 0.532000 33 98 0 0 0.005524 0 0 TAF1L 138474 broad.mit.edu 37 9 32632636 32632636 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:32632636C>T ENST00000242310.4 - 1 3031 c.2942G>A c.(2941-2943)gGa>gAa p.G981E NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 981 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) ATAGGAGAATCCTTCACCACA 0.507000 48 186 0 0 0.014410 0 0 OR8H3 390152 broad.mit.edu 37 11 55890659 55890659 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:55890659G>A ENST00000313472.3 + 1 811 c.811G>A c.(811-813)Gat>Aat p.D271N NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 271 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) CTTGGGAAGAGATCAAGTGGC 0.373000 39 45 0 0 0.004878 0 0 CNOT1 23019 broad.mit.edu 37 16 58559989 58559989 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:58559989A>G ENST00000317147.5 - 45 6839 c.6507T>C c.(6505-6507)acT>acC p.T2169T CNOT1_ENST00000245138.4_Silent_p.T1020T|CNOT1_ENST00000569240.1_Silent_p.T2164T NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2169 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCATTACTCCAGTGAAATTGG 0.408000 47 97 0 0 0.014410 0 0 ZNF99 7652 broad.mit.edu 37 19 22939385 22939385 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22939385G>A ENST00000397104.3 - 7 2785 c.2786C>T c.(2785-2787)tCa>tTa p.S929L 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) AGTAAGGTGTGAGGATTGCTT 0.368000 30 34 0 0 0.009535 0 0 FAM13C 220965 broad.mit.edu 37 10 61023888 61023888 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:61023888C>T ENST00000373867.3 - 10 1197 c.732G>A c.(730-732)ctG>ctA p.L244L FAM13C_ENST00000422313.2_Silent_p.L327L|FAM13C_ENST00000435852.2_Silent_p.L327L|FAM13C_ENST00000373868.2_Silent_p.L327L|FAM13C_ENST00000277705.6_Silent_p.L348L|FAM13C_ENST00000442566.3_Silent_p.L348L|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000468840.2_Silent_p.L244L NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 327 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCATCCATTTCAGGACTTCAG 0.453000 32 45 0 0 0.013726 0 0 SLC38A11 151258 broad.mit.edu 37 2 165796040 165796040 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:165796040G>A ENST00000303735.4 - 4 553 c.223C>T c.(223-225)Cgc>Tgc p.R75C SLC38A11_ENST00000409662.1_Missense_Mutation_p.R97C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.R128C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.R97C NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 97 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 ATGAAGTGGCGACCAATAAAC 0.328000 23 44 0 0 0.004656 0 0 PCLO 27445 broad.mit.edu 37 7 82583736 82583736 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:82583736G>A ENST00000423517.2 - 5 6870 c.6533C>T c.(6532-6534)cCc>cTc p.P2178L PCLO_ENST00000333891.8_Missense_Mutation_p.P2178L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2109 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 TGTGTCAGAGGGTGGGACAGA 0.428000 21 47 0 0 0.012319 0 0 OR52E2 119678 broad.mit.edu 37 11 5079978 5079978 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5079978C>T ENST00000321522.2 - 1 879 c.880G>A c.(880-882)Gga>Aga p.G294R NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G294R(1) endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GTTCTGACTCCATATATGACA 0.408000 11 51 0 0 0.013537 0 0 SCN5A 6331 broad.mit.edu 37 3 38639421 38639421 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38639421C>T ENST00000413689.1 - 14 2254 c.2061G>A c.(2059-2061)tgG>tgA p.W687* SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W687*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W687*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W687*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W687* NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 687 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) CGAGACGGTTCCAGCATGGTG 0.532000 93 98 0 0 0.014410 0 0 SPINK6 404203 broad.mit.edu 37 5 147582695 147582695 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:147582695G>A ENST00000325630.2 + 1 292 c.36G>A c.(34-36)ctG>ctA p.L12L NM_001195290.1|NM_205841.3 NP_001182219.1|NP_995313.2 Q6UWN8 ISK6_HUMAN serine peptidase inhibitor, Kazal type 6 12 extracellular region serine-type endopeptidase inhibitor activity endometrium(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTCTCTCTGGCTCTTTTCT 0.363000 16 51 0 0 0.010504 0 0 ANO3 63982 broad.mit.edu 37 11 26463553 26463553 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:26463553T>C ENST00000256737.3 + 2 987 c.135T>C c.(133-135)gcT>gcC p.A45A ANO3_ENST00000525139.1_Silent_p.A29A|ANO3_ENST00000531646.1_Silent_p.A45A|ANO3_ENST00000537978.1_Silent_p.A29A NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 45 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AGAGCTACGCTTACTCAAAGA 0.463000 42 267 0 0 0.008740 0 0 ALK 238 broad.mit.edu 37 2 29543705 29543705 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:29543705G>A ENST00000389048.3 - 7 2364 c.1458C>T c.(1456-1458)ttC>ttT p.F486F ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 486 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TCCAGCCACAGAAGCCATCTT 0.522000 """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 59 159 0 0 0.014410 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645394 122645394 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:122645394C>T ENST00000195173.4 - 9 1284 c.981G>A c.(979-981)ggG>ggA p.G327G SEMA5B_ENST00000357599.3_Silent_p.G327G|SEMA5B_ENST00000451055.2_Silent_p.G381G Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 327 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GGAATCGGCCCCCCACGTCAT 0.612000 15 63 0 0 0.004007 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001351 52001351 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:52001351C>T ENST00000291707.3 - 5 1381 c.1326G>A c.(1324-1326)ggG>ggA p.G442G SIGLEC12_ENST00000598614.1_Silent_p.G324G NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 442 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) AGGTGAATTCCCCTTCATCCT 0.612000 22 42 0 0 0.010504 0 0 PTPRG 5793 broad.mit.edu 37 3 62204553 62204553 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:62204553C>T ENST00000474889.1 + 13 2561 c.2184C>T c.(2182-2184)agC>agT p.S728S PTPRG_ENST00000295874.10_Silent_p.S728S NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 728 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) GAATGATAAGCCGCCCTGCTC 0.507000 72 95 0 0 0.014410 0 0 COL6A6 131873 broad.mit.edu 37 3 130293024 130293024 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:130293024G>A ENST00000358511.6 + 7 3233 c.3202G>A c.(3202-3204)Gaa>Aaa p.E1068K COL6A6_ENST00000453409.2_Missense_Mutation_p.E1068K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1068 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATTTCAGATTGAAAACATCAA 0.468000 55 54 0 0 0.014410 0 0 PDZD7 79955 broad.mit.edu 37 10 102781561 102781561 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:102781561G>A ENST00000370215.3 - 6 1086 c.861C>T c.(859-861)acC>acT p.T287T NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 287 PDZ 2. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CCACCTTGATGGTCAGCATGA 0.567000 137 159 0 0 0.014410 0 0 AMPD1 270 broad.mit.edu 37 1 115221019 115221019 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:115221019C>T ENST00000369538.3 - 7 1161 c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K AMPD1_ENST00000353928.6_Missense_Mutation_p.E343K|AMPD1_ENST00000520113.2_Missense_Mutation_p.E376K NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 343 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) GCAAAAAGTTCCTTTAGGGTC 0.378000 104 146 0 0 0.014410 0 0 HCN1 348980 broad.mit.edu 37 5 45262042 45262042 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:45262042C>T ENST00000303230.4 - 8 2711 c.2654G>A c.(2653-2655)cGa>cAa p.R885Q NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 885 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 TGAAGCAAATCGTGGCTTTTC 0.448000 78 231 0 0 0.014410 0 0 LCLAT1 253558 broad.mit.edu 37 2 30863146 30863146 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:30863146C>T ENST00000309052.4 + 7 1115 c.906C>T c.(904-906)ctC>ctT p.L302L LCLAT1_ENST00000379509.3_Silent_p.L264L|LCLAT1_ENST00000540623.1_Silent_p.L264L|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 302 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 ACCTTCAACTCTGGTGCCACA 0.498000 49 89 0 0 0.014410 0 0 UNC13B 10497 broad.mit.edu 37 9 35313969 35313969 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:35313969C>T ENST00000378495.3 + 10 1372 c.1150C>T c.(1150-1152)Cga>Tga p.R384* UNC13B_ENST00000396787.1_Nonsense_Mutation_p.R396*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.R384* NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 384 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TACCAAGGTTCGACTCCAGCT 0.438000 24 66 0 0 0.004656 0 0 SRCIN1 80725 broad.mit.edu 37 17 36707402 36707402 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:36707402C>T ENST00000264659.7 - 15 3175 c.2951G>A c.(2950-2952)aGg>aAg p.R984K SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1018K|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 856 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TGAGCCCCTCCTCCCACTGGG 0.697000 12 28 0 0 0.013537 0 0 PAPPA2 60676 broad.mit.edu 37 1 176659422 176659422 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:176659422C>T ENST00000367662.3 + 5 3451 c.2287C>T c.(2287-2289)Cca>Tca p.P763S PAPPA2_ENST00000367661.3_Missense_Mutation_p.P763S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 763 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 GGAGACAGTGCCATCCATGGA 0.552000 63 111 0 0 0.014410 0 0 HR 55806 broad.mit.edu 37 8 21977866 21977866 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:21977866G>A ENST00000381418.4 - 12 4245 c.2765C>T c.(2764-2766)tCc>tTc p.S922F HR_ENST00000312841.8_Missense_Mutation_p.S922F NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 922 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) CTCAGGCCAGGAGAAGCCCTC 0.677000 22 97 0 0 0.005443 0 0 PRX 57716 broad.mit.edu 37 19 40900362 40900362 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:40900362C>T ENST00000324001.7 - 7 4167 c.3897G>A c.(3895-3897)gaG>gaA p.E1299E PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1299 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) TGTGTCCGGCCTCTCCCTCCC 0.682000 6 11 0 0 0.001984 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515737 140515737 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140515737G>A ENST00000231134.5 + 1 938 c.721G>A c.(721-723)Gaa>Aaa p.E241K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 241 Cadherin 2. 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) CAACGCCCCCGAATTTTTACA 0.517000 183 287 0 0 0.014410 0 0 PVALB 5816 broad.mit.edu 37 22 37213031 37213031 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:37213031G>A ENST00000216200.5 - 2 74 c.19C>T c.(19-21)Ctg>Ttg p.L7L PVALB_ENST00000417718.2_Silent_p.L7L|CITF22-24E5.1_ENST00000417792.1_RNA NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 7 calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 TCAGCGTTCAGCAAGTCTGTC 0.567000 26 64 0 0 0.008361 0 0 SLC38A4 55089 broad.mit.edu 37 12 47182399 47182399 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:47182399T>C ENST00000447411.1 - 3 328 c.122A>G c.(121-123)cAa>cGa p.Q41R SLC38A4_ENST00000266579.4_Missense_Mutation_p.Q41R NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 41 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ATTAGCAAATTGACTGAACAC 0.353000 29 61 0 0 0.009535 0 0 TRMT2B 79979 broad.mit.edu 37 X 100291999 100291999 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:100291999G>A ENST00000338687.7 - 5 1172 c.367C>T c.(367-369)Cca>Tca p.P123S TRMT2B_ENST00000372936.3_Missense_Mutation_p.P168S|TRMT2B_ENST00000545398.1_Missense_Mutation_p.P168S|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P168S|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P168S|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P123S Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 168 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 ACAGTCTTTGGATTGCCATCT 0.498000 55 73 0 0 0.014410 0 0 FRK 2444 broad.mit.edu 37 6 116325089 116325089 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:116325089G>A ENST00000606080.1 - 2 863 c.417C>T c.(415-417)tcC>tcT p.S139S NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 139 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TGATTAGAAAGGAACCGGTCT 0.368000 8 16 0 0 0.004482 0 0 ASTN2 23245 broad.mit.edu 37 9 120053707 120053707 + Silent SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:120053707G>T ENST00000313400.4 - 2 628 c.528C>A c.(526-528)tcC>tcA p.S176S ASTN2_ENST00000373996.3_Silent_p.S176S|ASTN2_ENST00000361209.2_Silent_p.S176S|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 176 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AGCTGCTCATGGAGACGTGGA 0.592000 31 89 6.97489e-18 7.1267e-18 0.004878 1 0 DCLK3 85443 broad.mit.edu 37 3 36779826 36779826 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:36779826G>A ENST00000416516.2 - 2 815 c.325C>T c.(325-327)Ccc>Tcc p.P109S NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 109 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 GCTTCCCTGGGGGGCTTGCTA 0.567000 202 225 0 0 0.014410 0 0 MAML1 9794 broad.mit.edu 37 5 179201462 179201462 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:179201462C>T ENST00000292599.3 + 5 2898 c.2635C>T c.(2635-2637)Ccg>Tcg p.P879S MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 879 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) AATGTCTAGCCCGCAATTCTC 0.612000 22 45 0 0 0.014323 0 0 OR2D3 120775 broad.mit.edu 37 11 6942547 6942547 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6942547G>A ENST00000317834.3 + 1 343 c.315G>A c.(313-315)agG>agA p.R105R NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGTAAAGAGGAAAACCATTT 0.418000 33 161 0 0 0.010818 0 0 RYR2 6262 broad.mit.edu 37 1 237777612 237777612 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:237777612C>T ENST00000366574.2 + 37 5501 c.5184C>T c.(5182-5184)ccC>ccT p.P1728P RYR2_ENST00000360064.6_Silent_p.P1726P|RYR2_ENST00000542537.1_Silent_p.P1712P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1728 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACATTGTCCCCATGACGGAGG 0.557000 16 31 0 0 0.004007 0 0 ARAP2 116984 broad.mit.edu 37 4 36168569 36168569 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:36168569G>A ENST00000303965.4 - 10 2447 c.1958C>T c.(1957-1959)cCc>cTc p.P653L NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 653 PH 2. 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 ACTCCTGTAGGGAGTGATTAT 0.358000 8 43 0 0 0.003080 0 0 MUC17 140453 broad.mit.edu 37 7 100684180 100684180 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100684180A>G ENST00000306151.4 + 3 9547 c.9483A>G c.(9481-9483)gaA>gaG p.E3161E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3161 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) CTCCTAGTGAAGGAAGTACTC 0.493000 214 501 0 0 0.014410 0 0 LOC653786 653786 broad.mit.edu 37 16 22563783 22563783 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:22563783C>T ENST00000550753.1 + 0 1438 NR_003676.2 GGCTGTCTTTCAGTCTGTTCG 0.483000 21 158 0 0 0.010504 0 0 MACF1 23499 broad.mit.edu 37 1 39750861 39750861 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:39750861C>T ENST00000564288.1 + 12 2015 c.1238C>T c.(1237-1239)tCa>tTa p.S413L MACF1_ENST00000539005.1_Missense_Mutation_p.S418L|MACF1_ENST00000317713.7_Missense_Mutation_p.S418L|MACF1_ENST00000361689.2_Missense_Mutation_p.S418L|MACF1_ENST00000372915.3_Missense_Mutation_p.S418L|MACF1_ENST00000545844.1_Missense_Mutation_p.S418L|MACF1_ENST00000567887.1_Missense_Mutation_p.S450L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 418 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) CGAGAGAAATCACTTCGGCCG 0.453000 38 83 0 0 0.004289 0 0 PRSS8 5652 broad.mit.edu 37 16 31144211 31144211 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:31144211C>T ENST00000317508.6 - 4 593 c.330G>A c.(328-330)gaG>gaA p.E110E PRSS8_ENST00000568261.1_Intron NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 110 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 CCTTGGCGTCCTCGGAGTAGG 0.632000 43 231 0 0 0.008740 0 0 DNAH7 56171 broad.mit.edu 37 2 196661370 196661370 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:196661370C>T ENST00000312428.6 - 56 10545 c.10445G>A c.(10444-10446)gGa>gAa p.G3482E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3482 AAA 6 (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 AACCCATGTTCCTTCCTTGAC 0.418000 17 46 0 0 0.004990 0 0 RHBDD3 25807 broad.mit.edu 37 22 29656093 29656093 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:29656093C>T ENST00000216085.7 - 7 1541 c.1117G>A c.(1117-1119)Gga>Aga p.G373R NM_012265.1 NP_036397.1 Q9Y3P4 RHBD3_HUMAN rhomboid domain containing 3 373 integral to membrane serine-type endopeptidase activity lung(1)|ovary(1) 2 CCACCCTTTCCATGGGTCACC 0.672000 4 10 0 0 0.000602 0 0 GIPC3 126326 broad.mit.edu 37 19 3586991 3586991 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:3586991C>T ENST00000322315.5 + 3 636 c.592_splice c.e3+1 p.F197_splice NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 197 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGGGCCTTCGGTGAGGCGG 0.677000 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 31 0 0 0.003163 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73187937 73187937 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:73187937G>A ENST00000545377.1 + 27 3624 c.3448G>A c.(3448-3450)Gag>Aag p.E1150K ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E837K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.E1150K|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E114K NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 TGCTAATGAGGAGAGAGGAAT 0.418000 10 7 0 0 0.008291 0 0 MECOM 2122 broad.mit.edu 37 3 168833467 168833467 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:168833467C>T ENST00000464456.1 - 7 2829 c.1629G>A c.(1627-1629)aaG>aaA p.K543K MECOM_ENST00000494292.1_Silent_p.K731K|MECOM_ENST00000460814.1_Silent_p.K543K|MECOM_ENST00000468789.1_Silent_p.K543K|MECOM_ENST00000433243.2_Silent_p.K544K|MECOM_ENST00000264674.3_Silent_p.K608K|MECOM_ENST00000472280.1_Silent_p.K544K|MECOM_ENST00000392736.3_Silent_p.K543K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 53 sequence-specific DNA binding transcription factor activity p.K543K(1) 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 TCTGCAGTTTCTTTACTTCAC 0.473000 59 79 0 0 0.014410 0 0 RIPK4 54101 broad.mit.edu 37 21 43176946 43176946 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:43176946C>T ENST00000352483.2 - 2 277 c.213G>A c.(211-213)aaG>aaA p.K71K RIPK4_ENST00000544709.1_Silent_p.K8K|RIPK4_ENST00000542057.1_Silent_p.K8K|RIPK4_ENST00000332512.3_Silent_p.K71K Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 71 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.K71K(2) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCTCCATCTTCTTGGCTTCTT 0.537000 27 68 0 0 0.005443 0 0 LOC645166 645166 broad.mit.edu 37 1 148932875 148932875 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:148932875G>A ENST00000539543.1 + 0 131 NR_027355.1 GGTGGGAGACGGGTGAGGTAC 0.632000 21 386 0 0 0.002780 0 0 BRINP2 57795 broad.mit.edu 37 1 177245506 177245506 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:177245506G>A ENST00000361539.4 + 6 1260 c.948G>A c.(946-948)atG>atA p.M316I FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 316 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 TCCAGGCCATGGAGGACAGCC 0.577000 25 68 0 0 0.003954 0 0 C4B 721 broad.mit.edu 37 6 31997489 31997489 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31997489C>T ENST00000435363.2 + 29 3907 c.3823C>T c.(3823-3825)Cac>Tac p.H1275Y C4B_ENST00000425700.2_Missense_Mutation_p.H1275Y NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1275 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity CCTCCTGCTTCACGAGGGCAA 0.672000 20 132 0 0 0.003271 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617587 54617587 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:54617587A>C ENST00000302287.3 + 4 764 c.358A>C c.(358-360)Aag>Cag p.K120Q VSTM2A_ENST00000407838.3_Missense_Mutation_p.K120Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.K120Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.K119Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.K120Q Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 120 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) AGTGAGGAAAAAGGATGAAGG 0.443000 15 40 0 0 0.004990 0 0 HOXA3 3200 broad.mit.edu 37 7 27149927 27149927 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:27149927G>A ENST00000396352.4 - 2 532 c.333C>T c.(331-333)ccC>ccT p.P111P HOXA3_ENST00000317201.2_Silent_p.P111P|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 111 Pro-rich. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 taggtgcagggggctgaggtg 0.746000 3 21 0 0 0.009096 0 0 MYH1 4619 broad.mit.edu 37 17 10418209 10418209 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10418209C>T ENST00000226207.5 - 6 603 c.509G>A c.(508-510)cGg>cAg p.R170Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 170 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R170L(1) 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 CTGATTCTCCCGATCTAGAAG 0.323000 39 78 0 0 0.009718 0 0 CYB5RL 606495 broad.mit.edu 37 1 54640376 54640376 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:54640376G>A ENST00000419823.2 - 7 1088 c.864C>T c.(862-864)gtC>gtT p.V288V CYB5RL_ENST00000537208.1_Silent_p.V220V|CYB5RL_ENST00000534324.1_Silent_p.V288V|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000401046.3_Silent_p.V140V|CYB5RL_ENST00000542737.1_Silent_p.V288V|CYB5RL_ENST00000287899.8_Silent_p.V220V NM_001031672.2 NP_001026842.2 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 288 cytochrome-b5 reductase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 CCGAGCCACAGACCAGTGCGA 0.547000 15 40 0 0 0.002450 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17696505 17696505 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:17696505C>T ENST00000399080.2 - 1 3201 c.3178G>A c.(3178-3180)Gaa>Aaa p.E1060K NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1060 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) TTAGGAACTTCCTGTTCTCCA 0.348000 15 28 0 0 0.002450 0 0 SRBD1 55133 broad.mit.edu 37 2 45829063 45829063 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:45829063G>A ENST00000263736.4 - 3 302 c.240C>T c.(238-240)gtC>gtT p.V80V NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 80 Poly-Val. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TAACAACAACGACTTCTGAGC 0.483000 59 219 0 0 0.014410 0 0 B4GALNT3 283358 broad.mit.edu 37 12 659062 659062 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:659062G>A ENST00000266383.5 + 10 994 c.981G>A c.(979-981)cgG>cgA p.R327R NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 327 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CTGACCCCCGGGACACCCTCT 0.642000 14 22 0 0 0.001855 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281793 71281793 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:71281793C>T ENST00000335793.3 - 2 1241 c.847G>A c.(847-849)Gat>Aat p.D283N CDC42EP4_ENST00000439510.2_Missense_Mutation_p.D213N|CDC42EP4_ENST00000581014.1_Intron Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 283 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CACCCCTCATCCTCCAGAGCA 0.721000 18 37 0 0 0.004990 0 0 GRIP1 23426 broad.mit.edu 37 12 66911703 66911703 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:66911703G>A ENST00000359742.4 - 6 796 c.556C>T c.(556-558)Cgt>Tgt p.R186C GRIP1_ENST00000398016.3_Missense_Mutation_p.R186C|GRIP1_ENST00000286445.7_Missense_Mutation_p.R186C Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 186 PDZ 2. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CCTCCAGGACGAACACATGTT 0.383000 21 35 0 0 0.012319 0 0 OR10J5 127385 broad.mit.edu 37 1 159505366 159505366 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:159505366C>T ENST00000334857.2 - 1 476 c.432G>A c.(430-432)ctG>ctA p.L144L NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) ACCCACACACCAGCTGGGCAC 0.507000 40 68 0 0 0.006230 0 0 ITSN1 6453 broad.mit.edu 37 21 35186232 35186232 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:35186232G>A ENST00000381318.3 + 22 2871 c.2583G>A c.(2581-2583)acG>acA p.T861T ITSN1_ENST00000399349.1_Silent_p.T856T|ITSN1_ENST00000399367.3_Silent_p.T856T|ITSN1_ENST00000399353.1_Silent_p.T819T|ITSN1_ENST00000399326.3_Silent_p.T856T|ITSN1_ENST00000399352.1_Silent_p.T856T|ITSN1_ENST00000399355.2_Silent_p.T861T|ITSN1_ENST00000399338.4_Silent_p.T856T|ITSN1_ENST00000379960.5_Silent_p.T856T|ITSN1_ENST00000381291.4_Silent_p.T861T|ITSN1_ENST00000381285.4_Silent_p.T861T|ITSN1_ENST00000437442.2_Silent_p.T856T|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 861 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CCACCAGCACGAATGAGAAAC 0.498000 22 72 0 0 0.012319 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955789 18955789 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:18955789G>A ENST00000302797.3 - 1 767 c.543C>T c.(541-543)gtC>gtT p.V181V MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 181 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCAGCCACGCGACTGTGATGA 0.527000 20 122 0 0 0.007413 0 0 MYO5C 55930 broad.mit.edu 37 15 52567770 52567770 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:52567770G>A ENST00000261839.7 - 5 756 c.595C>T c.(595-597)Ccc>Tcc p.P199S MYO5C_ENST00000443683.2_Missense_Mutation_p.P142S|MYO5C_ENST00000541028.1_5'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 199 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) TCGGTGATGGGATTGGATGCC 0.557000 51 133 0 0 0.014410 0 0 GMPR2 51292 broad.mit.edu 37 14 24706339 24706339 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24706339C>T ENST00000557854.1 + 5 859 c.582C>T c.(580-582)atC>atT p.I194I GMPR2_ENST00000355299.4_Silent_p.I176I|GMPR2_ENST00000559836.1_Silent_p.I176I|GMPR2_ENST00000420554.2_Silent_p.I194I|GMPR2_ENST00000399440.2_Silent_p.I176I|GMPR2_ENST00000456667.3_Silent_p.I148I|GMPR2_ENST00000559910.1_Silent_p.I143I|GMPR2_ENST00000559104.1_Silent_p.I161I|GMPR2_ENST00000348719.7_Silent_p.I176I|GMPR2_ENST00000560517.1_3'UTR Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 176 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) CTGACATCATCAAAGTGGGAA 0.512000 48 162 0 0 0.014410 0 0 SELV 348303 broad.mit.edu 37 19 40006639 40006639 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:40006639G>A ENST00000423711.1 + 1 887 c.787G>A c.(787-789)Gtc>Atc p.V263I SELV_ENST00000335426.4_Missense_Mutation_p.V263I P59797 SELV_HUMAN 263 cell redox homeostasis selenium binding breast(1)|endometrium(1)|lung(3)|prostate(1) 6 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;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGACAAGAGGGTCCTGATTCG 0.642000 5 12 0 0 0.001984 0 0 BICD1 636 broad.mit.edu 37 12 32487577 32487577 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:32487577C>T ENST00000548411.1 + 6 2409 c.2228C>T c.(2227-2229)tCc>tTc p.S743F BICD1_ENST00000281474.5_Missense_Mutation_p.S743F NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 743 Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ACCTTCTCATCCCTGAGAGCA 0.408000 49 134 0 0 0.014410 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751307 26751307 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:26751307C>T ENST00000396641.2 + 2 736 c.144C>T c.(142-144)gtC>gtT p.V48V LRRC3B_ENST00000456208.2_Silent_p.V48V|LRRC3B_ENST00000417744.1_Silent_p.V48V NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 48 LRRNT. integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 GTTTAAATGTCACCTGTAGCA 0.423000 44 47 0 0 0.011902 0 0 F10 2159 broad.mit.edu 37 13 113783846 113783846 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:113783846G>A ENST00000375559.3 + 2 189 c.151G>A c.(151-153)Gga>Aga p.G51R F10_ENST00000409306.1_Missense_Mutation_p.G51R|F10_ENST00000483537.1_3'UTR|F10_ENST00000375551.3_Missense_Mutation_p.G51R NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 51 Gla. G -> V (in FA10D). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GATGAAGAAAGGACACCTCGA 0.562000 129 66 0 0 0.014410 0 0 GBP2 2634 broad.mit.edu 37 1 89582689 89582689 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:89582689G>A ENST00000370466.3 - 6 1122 c.854C>T c.(853-855)cCa>cTa p.P285L GBP2_ENST00000463660.1_5'UTR NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 285 P -> A (in dbSNP:rs1803632). interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CCCATTGACTGGAATGCCACC 0.458000 33 59 0 0 0.003755 0 0 CALCRL 10203 broad.mit.edu 37 2 188216924 188216924 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:188216924A>G ENST00000409998.1 - 14 1826 c.1045T>C c.(1045-1047)Ttt>Ctt p.F349L AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.F349L|CALCRL_ENST00000392370.3_Missense_Mutation_p.F349L|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 349 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) ATCAGCACAAATTCAATGCCA 0.428000 7 14 0 0 0.003080 0 0 PTPN3 5774 broad.mit.edu 37 9 112172630 112172630 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:112172630G>A ENST00000412145.1 - 10 3539 c.986C>T c.(985-987)cCa>cTa p.P329L PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.P284L|PTPN3_ENST00000374541.2_Missense_Mutation_p.P460L|PTPN3_ENST00000262539.3_Missense_Mutation_p.P306L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 460 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ATTTGAAGATGGAGACACAGA 0.522000 44 111 0 0 0.013114 0 0 TTN 7273 broad.mit.edu 37 2 179640452 179640452 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179640452C>T ENST00000589042.1 - 28 6363 c.6139G>A c.(6139-6141)Gaa>Aaa p.E2047K TTN_ENST00000591111.1_Missense_Mutation_p.E2047K|TTN_ENST00000460472.2_Missense_Mutation_p.E2001K|TTN_ENST00000360870.5_Missense_Mutation_p.E2047K|TTN_ENST00000359218.5_Missense_Mutation_p.E2001K|TTN_ENST00000342992.6_Missense_Mutation_p.E2047K|TTN_ENST00000342175.6_Missense_Mutation_p.E2001K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1808 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) TTTTCCTCTTCAGTTAACTCT 0.423000 34 90 0 0 0.003271 0 0 TSPAN2 10100 broad.mit.edu 37 1 115601542 115601542 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:115601542C>T ENST00000369516.2 - 5 437 c.406G>A c.(406-408)Gga>Aga p.G136R TSPAN2_ENST00000369515.2_Missense_Mutation_p.G111R|TSPAN2_ENST00000369514.2_Missense_Mutation_p.G136R NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 136 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TTGCCTTTTCCCCTGTCTTTA 0.423000 129 189 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179634635 179634635 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179634635G>A ENST00000589042.1 - 37 8897 c.8673C>T c.(8671-8673)atC>atT p.I2891I TTN_ENST00000591111.1_Silent_p.I2891I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I2845I|TTN_ENST00000360870.5_Silent_p.I2891I|TTN_ENST00000359218.5_Silent_p.I2845I|TTN_ENST00000342992.6_Silent_p.I2891I|TTN_ENST00000342175.6_Silent_p.I2845I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2629 Ig-like 16. 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) CAGGCACCTCGATATTTTTCA 0.373000 36 80 0 0 0.005524 0 0 SYTL1 84958 broad.mit.edu 37 1 27679920 27679920 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:27679920G>A ENST00000543823.1 + 13 1952 c.1490G>A c.(1489-1491)tGg>tAg p.W497* SYTL1_ENST00000318074.5_Nonsense_Mutation_p.W485*|SYTL1_ENST00000490170.1_3'UTR Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 497 C2 2. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CTCTCCCTCTGGGACCATGGG 0.667000 11 33 0 0 0.001855 0 0 CLEC4E 26253 broad.mit.edu 37 12 8687268 8687268 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:8687268C>T ENST00000299663.3 - 6 791 c.626G>A c.(625-627)gGa>gAa p.G209E CLEC4E_ENST00000545274.1_Missense_Mutation_p.G164E|CLEC4E_ENST00000446457.2_3'UTR NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 209 integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) AGGATTTATTCCTACCATTTC 0.423000 28 74 0 0 0.007291 0 0 GLG1 2734 broad.mit.edu 37 16 74524939 74524939 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:74524939C>T ENST00000422840.2 - 8 1408 c.1409G>A c.(1408-1410)cGa>cAa p.R470Q GLG1_ENST00000447066.2_Missense_Mutation_p.R459Q|GLG1_ENST00000205061.5_Missense_Mutation_p.R470Q NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 470 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CTTCTCCCCTCGAACTACTTT 0.493000 23 132 0 0 0.003330 0 0 ITPR1 3708 broad.mit.edu 37 3 4732914 4732914 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:4732914C>T ENST00000302640.8 + 31 4220 c.3870C>T c.(3868-3870)ttC>ttT p.F1290F ITPR1_ENST00000357086.4_Silent_p.F1296F|ITPR1_ENST00000456211.2_Silent_p.F1281F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.F1290F|ITPR1_ENST00000423119.2_Silent_p.F1296F|ITPR1_ENST00000354582.6_Silent_p.F1305F NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1305 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TTCAGCACTTCGTTCACTGCA 0.428000 10 58 0 0 0.006214 0 0 KLHL32 114792 broad.mit.edu 37 6 97562220 97562220 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:97562220G>A ENST00000369261.4 + 7 1552 c.1189G>A c.(1189-1191)Gag>Aag p.E397K KLHL32_ENST00000536676.1_Missense_Mutation_p.E361K|KLHL32_ENST00000539200.1_Missense_Mutation_p.E328K|KLHL32_ENST00000544166.1_Intron NM_052904.3 NP_443136.2 Q96NJ5 KLH32_HUMAN kelch-like family member 32 397 breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) GGGTGCCATGGAGGAATACCT 0.517000 20 25 0 0 0.010504 0 0 ARAP3 64411 broad.mit.edu 37 5 141051140 141051140 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:141051140G>A ENST00000239440.4 - 12 1916 c.1851C>T c.(1849-1851)ctC>ctT p.L617L ARAP3_ENST00000508305.1_Silent_p.L539L|ARAP3_ENST00000513878.1_Silent_p.L279L NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 617 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CTCCTACCTGGAGAAGCTGGC 0.592000 28 43 0 0 0.008361 0 0 FAM47B 170062 broad.mit.edu 37 X 34960955 34960955 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:34960955G>A ENST00000329357.5 + 1 43 c.7G>A c.(7-9)Gac>Aac p.D3N NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 3 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 CACCATGGGGGACCGGAGGCC 0.627000 7 13 0 0 0.003080 0 0 PON1 5444 broad.mit.edu 37 7 94940786 94940786 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:94940786G>A ENST00000222381.3 - 5 705 c.474C>T c.(472-474)acC>acT p.T158T PON1_ENST00000542556.1_Silent_p.T158T NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 158 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TATGTCTGATGGTTTTTAGAT 0.378000 40 109 0 0 0.009718 0 0 ROBO1 6091 broad.mit.edu 37 3 78680377 78680377 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:78680377G>A ENST00000436010.2 - 23 4440 c.3443C>T c.(3442-3444)cCt>cTt p.P1148L ROBO1_ENST00000467549.1_Missense_Mutation_p.P1087L|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1187L|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1142L Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1187 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGGGGGAGGAGGAAGCAGGTC 0.478000 13 15 0 0 0.001855 0 0 IGLV2-14 28815 broad.mit.edu 37 22 23101590 23101590 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:23101590C>T ENST00000390312.2 + 0 285 GGTTTCTAATCGCTTCTCTGG 0.522000 124 417 0 0 0.014410 0 0 OR1C1 26188 broad.mit.edu 37 1 247921140 247921140 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:247921140G>A ENST00000408896.2 - 1 842 c.569C>T c.(568-570)tCt>tTt p.S190F NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGAGACGTCAGAGCAAGAGAG 0.458000 5 30 0 0 0.000602 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48603517 48603517 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:48603517G>A ENST00000323776.5 + 14 2349 c.2187G>A c.(2185-2187)atG>atA p.M729I MYCBPAP_ENST00000436259.2_Missense_Mutation_p.M692I NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 692 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) AGAGCATCATGGAGGAGATCC 0.627000 57 154 0 0 0.014410 0 0 NOL8 55035 broad.mit.edu 37 9 95078256 95078256 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:95078256G>A ENST00000545558.1 - 7 1143 c.651C>T c.(649-651)ccC>ccT p.P217P NOL8_ENST00000358855.4_Silent_p.P149P|NOL8_ENST00000542053.1_Silent_p.P149P|NOL8_ENST00000535387.1_Silent_p.P217P|NOL8_ENST00000442668.2_Silent_p.P217P Q76FK4 NOL8_HUMAN nucleolar protein 8 217 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TTATCTTCTTGGGAGGGCCAT 0.488000 18 40 0 0 0.004990 0 0 HECTD1 25831 broad.mit.edu 37 14 31626090 31626090 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:31626090G>A ENST00000399332.1 - 12 2376 c.1888C>T c.(1888-1890)Cct>Tct p.P630S HECTD1_ENST00000553700.1_Missense_Mutation_p.P630S NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 630 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCAGAGGAAGGACCTGCCAAC 0.363000 31 85 0 0 0.013726 0 0 PDE1B 5153 broad.mit.edu 37 12 54969363 54969363 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:54969363C>A ENST00000243052.3 + 12 1650 c.1214C>A c.(1213-1215)cCc>cAc p.P405H PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.P364H|PDE1B_ENST00000550620.1_Missense_Mutation_p.P385H|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 405 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.P405H(1) endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TTGGGCCTGCCCTTTTCTCCA 0.572000 49 174 1.07234e-20 1.09732e-20 0.014410 1 0 SFXN3 81855 broad.mit.edu 37 10 102795274 102795274 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:102795274G>A ENST00000393459.1 + 4 655 c.182G>A c.(181-183)gGg>gAg p.G61E SFXN3_ENST00000224807.5_Missense_Mutation_p.G65E Q9BWM7 SFXN3_HUMAN sideroflexin 3 65 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GTGACCCCAGGGATCACCGAG 0.642000 39 41 0 0 0.011902 0 0 OR51A4 401666 broad.mit.edu 37 11 4967863 4967863 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4967863G>A ENST00000380373.2 - 1 493 c.468C>T c.(466-468)ctC>ctT p.L156L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAGAACCAGGAGCATGCTCT 0.428000 10 297 0 0 0.003163 0 0 TNP1 7141 broad.mit.edu 37 2 217724400 217724400 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:217724400G>A ENST00000236979.2 - 2 187 c.158C>T c.(157-159)tCc>tTc p.S53F AC007563.5_ENST00000447289.1_RNA NM_003284.3 NP_003275.1 P09430 STP1_HUMAN transition protein 1 (during histone to protamine replacement) 53 chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation nucleosome DNA binding large_intestine(1)|lung(1)|stomach(1) 3 Renal(207;0.0822) Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCACAAGTGGGAGCGGTAATT 0.522000 36 92 0 0 0.006999 0 0 FGFR3 2261 broad.mit.edu 37 4 1801056 1801056 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:1801056C>T ENST00000340107.4 + 3 441 c.185C>T c.(184-186)cCc>cTc p.P62L FGFR3_ENST00000352904.1_Missense_Mutation_p.P62L|FGFR3_ENST00000481110.2_Missense_Mutation_p.P62L|FGFR3_ENST00000412135.2_Missense_Mutation_p.P62L|FGFR3_ENST00000440486.2_Missense_Mutation_p.P62L|FGFR3_ENST00000260795.2_Missense_Mutation_p.P62L NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 62 Ig-like C2-type 1. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTGAGCTGTCCCCCGCCCGGG 0.697000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 30 120 0 0 0.009535 0 0 PRDM9 56979 broad.mit.edu 37 5 23510112 23510112 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:23510112G>A ENST00000296682.3 + 4 459 c.277G>A c.(277-279)Gaa>Aaa p.E93K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 93 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 AGATTCTGATGAAGAATGGAC 0.443000 HNSCC(3;0.000094) 24 95 0 0 0.003954 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078157 90078157 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:90078157C>T ENST00000390270.2 + 0 291 GGCCTGGCGCCCAGGCTCCTC 0.587000 47 37 0 0 0.013114 0 0 CAPN13 92291 broad.mit.edu 37 2 30961278 30961278 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:30961278C>T ENST00000295055.8 - 16 1758 c.1582G>A c.(1582-1584)Gag>Aag p.E528K CAPN13_ENST00000534090.2_Missense_Mutation_p.E528K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 528 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.E528K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GTTAGAAGCTCCTGGTTGAGA 0.557000 5 18 0 0 0.000602 0 0 IL20RB 53833 broad.mit.edu 37 3 136714374 136714374 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:136714374C>T ENST00000329582.4 + 6 1050 c.801C>T c.(799-801)ccC>ccT p.P267P IL20RB_ENST00000309741.5_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 267 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 CCTGTTGCCCCGTGGTGGTCC 0.522000 233 318 0 0 0.014410 0 0 DSCAM 1826 broad.mit.edu 37 21 41725649 41725649 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:41725649G>A ENST00000400454.1 - 5 1154 c.677C>T c.(676-678)tCc>tTc p.S226F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 226 Ig-like C2-type 3. 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) ATCCAGTATGGATGGGGCTGA 0.512000 9 14 0 0 0.006214 0 0 PARK2 5071 broad.mit.edu 37 6 161807861 161807861 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:161807861T>C ENST00000366898.1 - 10 1234 c.1132A>G c.(1132-1134)Agt>Ggt p.S378G PARK2_ENST00000366897.1_Missense_Mutation_p.S350G|PARK2_ENST00000366894.1_Missense_Mutation_p.S187G|PARK2_ENST00000338468.3_Missense_Mutation_p.S187G|PARK2_ENST00000366896.1_Missense_Mutation_p.S229G NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 378 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) AATACGGCACTGCACTCCCCT 0.493000 44 64 0 0 0.014410 0 0 USP17L2 377630 broad.mit.edu 37 8 11995291 11995291 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:11995291C>T ENST00000333796.3 - 1 1295 c.979G>A c.(979-981)Ggg>Agg p.G327R FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 327 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CAACTCCACCCAGCGTGGACC 0.488000 12 59 0 0 0.001855 0 0 CABP5 56344 broad.mit.edu 37 19 48547171 48547171 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:48547171G>A ENST00000293255.2 - 1 139 c.9C>T c.(7-9)ttC>ttT p.F3F NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 3 signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) GGCCCATGGGGAACTGCATGG 0.642000 21 26 0 0 0.012319 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648700 41648700 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:41648700C>T ENST00000313860.7 + 12 1509 c.1455C>T c.(1453-1455)ccC>ccT p.P485P LIMCH1_ENST00000509277.1_Silent_p.P319P|LIMCH1_ENST00000508501.1_Silent_p.P485P|LIMCH1_ENST00000512632.1_Silent_p.P485P|LIMCH1_ENST00000513024.1_Silent_p.P314P|LIMCH1_ENST00000503057.1_Silent_p.P870P|LIMCH1_ENST00000514096.1_Silent_p.P326P|LIMCH1_ENST00000381753.4_Silent_p.P319P|LIMCH1_ENST00000512820.1_Silent_p.P473P|LIMCH1_ENST00000511496.1_Silent_p.P326P|LIMCH1_ENST00000396595.3_Silent_p.P331P|LIMCH1_ENST00000512946.1_Silent_p.P485P NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 485 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ACCCCAATCCCATGAAATACC 0.488000 65 431 0 0 0.014410 0 0 DNAH7 56171 broad.mit.edu 37 2 196749422 196749422 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:196749422G>A ENST00000312428.6 - 35 5750 c.5650C>T c.(5650-5652)Cga>Tga p.R1884* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1884 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 TTTCGAGTTCGATCTGAAATT 0.358000 39 75 0 0 0.005524 0 0 CCL24 6369 broad.mit.edu 37 7 75441266 75441266 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:75441266C>T ENST00000416943.1 - 4 301 c.208G>A c.(208-210)Ggc>Agc p.G70S CCL24_ENST00000222902.2_Missense_Mutation_p.G70S NM_002991.2 NP_002982.2 O00175 CCL24_HUMAN chemokine (C-C motif) ligand 24 70 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 AACTGCTGGCCCTTCTTGGTG 0.612000 24 84 0 0 0.007291 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950372 123950372 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:123950372C>T ENST00000526639.2 + 2 864 c.285C>T c.(283-285)gcC>gcT p.A95A SNRNP35_ENST00000412157.2_Silent_p.A100A|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Silent_p.A95A NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 95 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 AGGGCTACGCCTTCATCGAAT 0.512000 49 93 0 0 0.014410 0 0 CSMD3 114788 broad.mit.edu 37 8 114186060 114186060 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:114186060G>A ENST00000297405.5 - 4 844 c.600C>T c.(598-600)atC>atT p.I200I CSMD3_ENST00000343508.3_Silent_p.I160I|CSMD3_ENST00000352409.3_Silent_p.I200I|CSMD3_ENST00000455883.2_Silent_p.I200I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 200 Sushi 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCTGTAGCGGATCTTGTCCC 0.463000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 64 0 0 0.001855 0 0 ZNF582 147948 broad.mit.edu 37 19 56896435 56896435 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56896435A>T ENST00000301310.4 - 5 509 c.351T>A c.(349-351)agT>agA p.S117R ZNF582_ENST00000586929.1_Missense_Mutation_p.S117R NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 117 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) CATCTTGGAAACTTGAACACT 0.403000 55 80 0 0 0.014410 0 0 PEG3 5178 broad.mit.edu 37 19 57326831 57326831 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:57326831C>T ENST00000326441.9 - 10 3342 c.2979G>A c.(2977-2979)agG>agA p.R993R ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.R869R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.R867R|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Silent_p.R993R|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 993 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) AGGGCTTCTCCCTATCATGAA 0.498000 26 36 0 0 0.004656 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964106 88964106 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:88964106G>A ENST00000333190.4 + 4 2419 c.1810G>A c.(1810-1812)Gaa>Aaa p.E604K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 604 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAAACTTAAGGAAGCTTCAAG 0.378000 HNSCC(36;0.09) 13 37 0 0 0.013537 0 0 COL17A1 1308 broad.mit.edu 37 10 105816879 105816879 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:105816879C>T ENST00000353479.5 - 17 1609 c.1319G>A c.(1318-1320)gGt>gAt p.G440D COL17A1_ENST00000369733.3_Missense_Mutation_p.G440D NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 440 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) gccaccaacaccgccacctcc 0.647000 34 49 0 0 0.010818 0 0 NPY1R 4886 broad.mit.edu 37 4 164247687 164247687 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:164247687G>A ENST00000296533.2 - 2 551 c.20C>T c.(19-21)tCc>tTc p.S7F NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 7 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TTCAACCTGGGAAAATAATGT 0.358000 25 47 0 0 0.003330 0 0 CELSR2 1952 broad.mit.edu 37 1 109816201 109816201 + Silent SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:109816201C>A ENST00000271332.3 + 33 8714 c.8653C>A c.(8653-8655)Cgg>Agg p.R2885R CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2885 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) CCCACCGCCCCGGCAGAGCCT 0.697000 41 53 4.67007e-22 4.78026e-22 0.008740 1 0 XIRP2 129446 broad.mit.edu 37 2 168099832 168099832 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:168099832C>T ENST00000409195.1 + 9 2019 c.1930C>T c.(1930-1932)Cct>Tct p.P644S XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P422S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P644S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 469 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 AGAGAAAATTCCTGAGCTAGC 0.433000 22 47 0 0 0.010504 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819878 159819878 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:159819878G>A ENST00000497452.1 - 0 517 CCACATTTGCGAATATCAGCA 0.423000 62 84 0 0 0.014410 0 0 JADE3 9767 broad.mit.edu 37 X 46913940 46913940 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:46913940G>A ENST00000218343.4 + 9 1651 c.1353G>A c.(1351-1353)gaG>gaA p.E451E PHF16_ENST00000397189.1_Silent_p.E451E NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 451 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 CTCCAAAGGAGGATGAAGAAA 0.458000 17 21 0 0 0.004007 0 0 OR51S1 119692 broad.mit.edu 37 11 4869952 4869952 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4869952G>A ENST00000322101.2 - 1 562 c.487C>T c.(487-489)Ctc>Ttc p.L163F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 163 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) GGCAGATGGAGACCCAGGCAT 0.557000 11 94 0 0 0.008291 0 0 FER1L6 654463 broad.mit.edu 37 8 124992918 124992918 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:124992918C>T ENST00000522917.1 + 11 1483 c.1277C>T c.(1276-1278)tCc>tTc p.S426F FER1L6_ENST00000399018.1_Missense_Mutation_p.S426F NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 426 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAGTTGCCTTCCAAGGACAAA 0.448000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 67 0 0 0.012319 0 0 PTPN22 26191 broad.mit.edu 37 1 114401659 114401659 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:114401659C>T ENST00000359785.5 - 3 373 c.238G>A c.(238-240)Gag>Aag p.E80K PTPN22_ENST00000538253.1_5'UTR|PTPN22_ENST00000525799.1_Missense_Mutation_p.E80K|PTPN22_ENST00000420377.2_Missense_Mutation_p.E80K|PTPN22_ENST00000460620.1_Missense_Mutation_p.E80K|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000528414.1_Missense_Mutation_p.E80K NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 80 Tyrosine-protein phosphatase. negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) 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) CTGGAATCCTCATCAGAGGTT 0.378000 20 78 0 0 0.002780 0 0 RASSF9 9182 broad.mit.edu 37 12 86199465 86199465 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:86199465G>A ENST00000361228.3 - 2 691 c.323C>T c.(322-324)cCc>cTc p.P108L NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 108 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 TTGCATATTGGGCTGCTCATC 0.443000 50 154 0 0 0.014410 0 0 CCKBR 887 broad.mit.edu 37 11 6292693 6292693 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6292693G>A ENST00000525462.1 + 4 1474 c.1471G>A c.(1471-1473)Gat>Aat p.D491N CCKBR_ENST00000532715.1_Missense_Mutation_p.D338N|CCKBR_ENST00000334619.2_Missense_Mutation_p.D422N P32239 GASR_HUMAN cholecystokinin B receptor 422 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GGCTCTTCCCGATGAGGACCC 0.657000 18 106 0 0 0.006122 0 0 PVRL1 5818 broad.mit.edu 37 11 119510622 119510622 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:119510622G>A ENST00000341398.2 - 6 1103 c.1104C>T c.(1102-1104)ttC>ttT p.F368F RP11-196E1.3_ENST00000532153.1_RNA NM_203285.1 NP_976030.1 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 24 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) GGTTGTACAGGAAGAAGACAG 0.642000 23 42 0 0 0.014323 0 0 CDH9 1007 broad.mit.edu 37 5 26881634 26881634 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:26881634C>T ENST00000231021.4 - 12 2153 c.1981G>A c.(1981-1983)Gat>Aat p.D661N NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 661 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D661Y(1) 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 CCGCCTTCATCGTTGTAGGTC 0.438000 30 79 0 0 0.010818 0 0 MEIS1 4211 broad.mit.edu 37 2 66667712 66667712 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:66667712C>T ENST00000488550.1 + 4 699 c.400C>T c.(400-402)Cta>Tta p.L134L MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000407092.2_Silent_p.L134L|MEIS1_ENST00000272369.9_Silent_p.L134L|MEIS1_ENST00000444274.2_Silent_p.L102L|MEIS1_ENST00000560281.2_Silent_p.L134L|MEIS1_ENST00000398506.2_Silent_p.L132L|MEIS1_ENST00000495021.2_Silent_p.L69L O00470 MEIS1_HUMAN Meis homeobox 1 134 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 AGAAAAACCTCTATTTTCTTC 0.502000 16 48 0 0 0.008871 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508789 24508789 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:24508789C>T ENST00000376454.3 + 2 335 c.305C>T c.(304-306)cCc>cTc p.P102L KIAA1217_ENST00000376462.1_Missense_Mutation_p.P22L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P102L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P102L NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 102 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CAGAAGTACCCCCACCACGCC 0.502000 29 48 0 0 0.007291 0 0 VPS13D 55187 broad.mit.edu 37 1 12333117 12333117 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12333117C>T ENST00000358136.3 + 18 2291 c.2161C>T c.(2161-2163)Cct>Tct p.P721S VPS13D_ENST00000356315.4_Missense_Mutation_p.P721S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 721 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTGATATTTCCTGATGATTT 0.423000 29 93 0 0 0.009535 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112591 148112591 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:148112591C>T ENST00000361727.3 + 24 4395 c.3879C>T c.(3877-3879)taC>taT p.Y1293Y CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Silent_p.Y352Y NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1293 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGGCACCTACCATACCAACG 0.547000 HNSCC(39;0.1) 29 76 0 0 0.009535 0 0 CMA1 1215 broad.mit.edu 37 14 24975306 24975306 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24975306G>A ENST00000250378.3 - 4 557 c.528C>T c.(526-528)agC>agT p.S176S RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Silent_p.S65S NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 176 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CTCTGAAGTGGCTGCAGGCCT 0.537000 15 37 0 0 0.002450 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637314 18637314 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:18637314G>A ENST00000336349.5 - 3 742 c.507C>T c.(505-507)ttC>ttT p.F169F NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 169 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GTAAATCAGTGAAGTTCATGG 0.468000 34 181 0 0 0.013726 0 0 OR6C1 390321 broad.mit.edu 37 12 55715093 55715093 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:55715093C>T ENST00000379668.2 + 1 748 c.710C>T c.(709-711)tCc>tTc p.S237F NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 AAGGCCTTTTCCACATGTTCT 0.378000 30 67 0 0 0.007291 0 0 CCDC19 25790 broad.mit.edu 37 1 159846350 159846350 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:159846350G>A ENST00000426543.2 - 10 1548 c.1093C>T c.(1093-1095)Ctt>Ttt p.L365F CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.L450F Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 450 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TCCTACCGAAGAATCCTCTCG 0.527000 12 38 0 0 0.002450 0 0 GPM6B 2824 broad.mit.edu 37 X 13801602 13801602 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:13801602G>A ENST00000454189.2 - 3 357 c.230C>T c.(229-231)tCc>tTc p.S77F GPM6B_ENST00000316715.4_Missense_Mutation_p.S136F|GPM6B_ENST00000355135.2_Missense_Mutation_p.S136F|GPM6B_ENST00000356942.5_Missense_Mutation_p.S96F|GPM6B_ENST00000398361.3_Missense_Mutation_p.S10F|GPM6B_ENST00000493677.1_Missense_Mutation_p.S110F NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 96 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 GAAGAAAAAGGACGCAATTCC 0.423000 58 66 0 0 0.014410 0 0 CASS4 57091 broad.mit.edu 37 20 55027248 55027248 + Missense_Mutation SNP G G A rs149703805 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:55027248G>A ENST00000371336.3 + 5 1217 c.1016G>A c.(1015-1017)cGa>cAa p.R339Q CASS4_ENST00000360314.3_Missense_Mutation_p.R339Q|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 339 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 CTGATTCCCCGAGTGGAACAG 0.473000 51 98 0 0 0.014410 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013193 73013193 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:73013193C>T ENST00000308744.6 + 4 1331 c.1233C>T c.(1231-1233)atC>atT p.I411I NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I309I|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.I312I NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 411 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) AACTGCAGATCATCAACATCT 0.473000 11 73 0 0 0.013537 0 0 PPFIA2 8499 broad.mit.edu 37 12 81660787 81660787 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:81660787G>A ENST00000550584.2 - 29 3794 c.3499C>T c.(3499-3501)Ctt>Ttt p.L1167F PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.L1066F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1155F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L1014F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1161F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.L1167F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L1062F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1146F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1152F|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L353F|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L703F NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1066 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 TCTCTTTCAAGAATCTGCCTT 0.353000 10 37 0 0 0.008291 0 0 PROX2 283571 broad.mit.edu 37 14 75329636 75329636 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:75329636C>T ENST00000556489.2 - 1 901 c.902G>A c.(901-903)gGa>gAa p.G301E PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.G301E NM_001243007.1 NP_001229936.1 Q3B8N5 PROX2_HUMAN prospero homeobox 2 301 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) TGATAAATTTCCTACTGGGAC 0.557000 62 143 0 0 0.014410 0 0 SLFN11 91607 broad.mit.edu 37 17 33679461 33679461 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:33679461C>T ENST00000394566.1 - 7 2892 c.2620G>A c.(2620-2622)Gac>Aac p.D874N SLFN11_ENST00000308377.4_Missense_Mutation_p.D874N NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 874 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATAGCTGGGTCAGCTGTCCTT 0.478000 86 224 0 0 0.014410 0 0 HYDIN 54768 broad.mit.edu 37 16 71026020 71026020 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:71026020G>A ENST00000393567.2 - 24 3888 c.3738C>T c.(3736-3738)atC>atT p.I1246I HYDIN_ENST00000448089.2_Silent_p.I1198I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1246 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) CTGTAACTAGGATTGCTGGTG 0.458000 23 53 0 0 0.004656 0 0 TYRP1 7306 broad.mit.edu 37 9 12695584 12695584 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:12695584A>G ENST00000388918.5 + 3 584 c.455A>G c.(454-456)aAg>aGg p.K152R TYRP1_ENST00000381137.2_5'UTR NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 152 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GATATGGCAAAGCGCACAACT 0.423000 Oculocutaneous Albinism 24 72 0 0 0.004656 0 0 NR4A1 3164 broad.mit.edu 37 12 52451274 52451274 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52451274C>T ENST00000545748.1 + 7 2657 c.1662C>T c.(1660-1662)gtC>gtT p.V554V NR4A1_ENST00000360284.3_Silent_p.V513V|NR4A1_ENST00000394825.1_Silent_p.V500V|NR4A1_ENST00000394824.2_Silent_p.V500V|NR4A1_ENST00000550082.1_Silent_p.V513V|NR4A1_ENST00000243050.1_Silent_p.V500V P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 500 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) TTGTCGATGTCCCTGCCTTCG 0.612000 29 73 0 0 0.012213 0 0 SAMD9 54809 broad.mit.edu 37 7 92731247 92731247 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:92731247G>A ENST00000379958.2 - 3 4433 c.4164C>T c.(4162-4164)ttC>ttT p.F1388F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1388 cytoplasm p.F1388F(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGGCCAAGATGAAATTTAGCT 0.358000 41 112 0 0 0.005524 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 5 87 0 0 0.001168 0 0 KRT75 9119 broad.mit.edu 37 12 52827961 52827961 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52827961C>T ENST00000252245.5 - 1 348 c.128G>A c.(127-129)gGg>gAg p.G43E NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 43 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GCCCCCACTCCCTGCTGCAGA 0.672000 31 97 0 0 0.009535 0 0 DNAH5 1767 broad.mit.edu 37 5 13727712 13727712 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13727712C>T ENST00000265104.4 - 70 12041 c.11937G>A c.(11935-11937)gaG>gaA p.E3979E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3979 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) GAGGTTCCTCCTCCGGGTTTT 0.418000 Kartagener syndrome 15 62 0 0 0.002450 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923181 159923181 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:159923181C>T ENST00000368093.3 - 2 425 c.309G>A c.(307-309)gaG>gaA p.E103E SLAMF9_ENST00000368092.3_Silent_p.E103E|SLAMF9_ENST00000466773.1_Intron NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 103 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCCTGAATCCTCCCAGCTCA 0.502000 51 128 0 0 0.014410 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357122 36357122 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:36357122C>T ENST00000360202.5 + 15 2053 c.1855C>T c.(1855-1857)Cct>Tct p.P619S KIRREL2_ENST00000262625.7_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P584S|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P599S NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 619 cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGCGAAGCCCCTGGAGGAGG 0.612000 51 79 0 0 0.014410 0 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C C T rs150656642 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:21221024C>T ENST00000574002.1 - 5 740 c.258G>A c.(256-258)ccG>ccA p.P86P ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 86 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AAGTGCAGTTCGGCATGTCGA 0.498000 12 47 0 0 0.013537 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39706162 39706162 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:39706162G>C ENST00000553728.1 + 2 365 c.152G>C c.(151-153)aGa>aCa p.R51T MIA2_ENST00000280082.3_Missense_Mutation_p.R51T|MIA2_ENST00000556784.1_Missense_Mutation_p.R51T AGAGATTATAGAGGACCTGAC 0.358000 17 34 0 0 0.010504 0 0 ZNF133 7692 broad.mit.edu 37 20 18296038 18296038 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:18296038C>T ENST00000377671.3 + 7 1099 c.540C>T c.(538-540)ctC>ctT p.L180L ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Silent_p.L184L|ZNF133_ENST00000402618.2_Silent_p.L118L|ZNF133_ENST00000401790.1_Silent_p.L181L|ZNF133_ENST00000538547.1_Silent_p.L86L|ZNF133_ENST00000316358.4_Silent_p.L181L|ZNF133_ENST00000535822.1_Silent_p.L86L NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 181 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 GGAACGGCCTCAGAGGGGTGG 0.532000 61 139 0 0 0.014410 0 0 USP26 83844 broad.mit.edu 37 X 132161803 132161803 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:132161803C>T ENST00000511190.1 - 6 915 c.446G>A c.(445-447)gGa>gAa p.G149E USP26_ENST00000370832.1_Missense_Mutation_p.G149E|USP26_ENST00000406273.1_Missense_Mutation_p.G149E NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 149 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G149E(1) 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) TGTCCCACTTCCTTTTGCTAT 0.393000 17 14 0 0 0.004007 0 0 SEMG2 6407 broad.mit.edu 37 20 43850988 43850988 + Missense_Mutation SNP C C T rs150189412 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:43850988C>T ENST00000372769.3 + 2 805 c.715C>T c.(715-717)Cat>Tat p.H239Y NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 239 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) AACTTCACTCCATCCTGCACA 0.378000 71 149 0 0 0.014410 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998818 8998818 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:8998818G>A ENST00000310455.3 - 2 494 c.344C>T c.(343-345)tCc>tTc p.S115F PPP1R3B_ENST00000519699.1_Missense_Mutation_p.S115F NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 115 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) AGAGGGCTGGGAAAAATCCAG 0.498000 21 82 0 0 0.008871 0 0 GPC5 2262 broad.mit.edu 37 13 92345744 92345744 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:92345744G>A ENST00000377067.3 + 3 1001 c.629G>A c.(628-630)aGa>aAa p.R210K NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 210 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) ATTCCCCAAAGAGTAATGGGA 0.522000 18 28 0 0 0.006122 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19266161 19266161 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:19266161C>T ENST00000454498.2 - 9 2285 c.1272G>A c.(1270-1272)ggG>ggA p.G424G CSGALNACT1_ENST00000332246.6_Silent_p.G424G|CSGALNACT1_ENST00000522854.1_Silent_p.G424G|CSGALNACT1_ENST00000311540.4_Silent_p.G424G|CSGALNACT1_ENST00000544602.1_Silent_p.G424G NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 424 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) GACACGTCATCCCAAATCCAA 0.458000 20 124 0 0 0.012319 0 0 COL4A4 1286 broad.mit.edu 37 2 227892716 227892716 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:227892716C>T ENST00000396625.3 - 42 4190 c.3983G>A c.(3982-3984)gGa>gAa p.G1328E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1328E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1328 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) TCCCGGGAATCCCACTGGTCC 0.478000 7 17 0 0 0.001984 0 0 PCDH1 5097 broad.mit.edu 37 5 141233788 141233788 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:141233788C>T ENST00000287008.3 - 5 3680 c.3533G>A c.(3532-3534)cGg>cAg p.R1178Q PCDH1_ENST00000503492.1_3'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TTTGGTGTTCCGGTCTTCCGG 0.652000 13 13 0 0 0.013537 0 0 CHD8 57680 broad.mit.edu 37 14 21862454 21862454 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:21862454G>A ENST00000399982.2 - 30 5645 c.5581C>T c.(5581-5583)Ccc>Tcc p.P1861S CHD8_ENST00000557364.1_Missense_Mutation_p.P1861S|CHD8_ENST00000430710.3_Missense_Mutation_p.P1582S NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1861 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GCTGCTGGGGGAAGGCGGCAT 0.498000 22 76 0 0 0.004656 0 0 PGM1 5236 broad.mit.edu 37 1 64125272 64125272 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:64125272C>A ENST00000371083.4 + 11 2037 c.1669C>A c.(1669-1671)Ctt>Att p.L557I PGM1_ENST00000540265.1_Missense_Mutation_p.L342I|PGM1_ENST00000371084.3_Missense_Mutation_p.L539I NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 539 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GTTGGCCCCCCTTATTTCCAT 0.522000 30 71 3.90053e-15 3.98067e-15 0.012213 1 0 S100PBP 64766 broad.mit.edu 37 1 33292157 33292157 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:33292157C>T ENST00000373475.5 + 3 711 c.457C>T c.(457-459)Cca>Tca p.P153S S100PBP_ENST00000373476.1_Missense_Mutation_p.P153S|S100PBP_ENST00000398243.3_Missense_Mutation_p.P153S|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 153 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ACCATTTAATCCAACAGTTTG 0.393000 28 93 0 0 0.005443 0 0 OR51B6 390058 broad.mit.edu 37 11 5373596 5373596 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5373596C>T ENST00000380219.1 + 1 859 c.859C>T c.(859-861)Cca>Tca p.P287S HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTTATGAACCCATTTATCTA 0.393000 16 111 0 0 0.003163 0 0 MAP2K1 5604 broad.mit.edu 37 15 66777515 66777515 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:66777515G>A ENST00000307102.5 + 7 1412 c.881G>A c.(880-882)gGg>gAg p.G294E MAP2K1_ENST00000566326.1_Missense_Mutation_p.G118E NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 294 Pro-rich.|Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 AGGACCCCCGGGAGGCCCCTT 0.602000 17 44 0 0 0.006122 0 0 SCAF4 57466 broad.mit.edu 37 21 33074204 33074204 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:33074204G>A ENST00000286835.7 - 6 867 c.485C>T c.(484-486)tCt>tTt p.S162F SCAF4_ENST00000434667.3_Missense_Mutation_p.S147F|SCAF4_ENST00000399804.1_Missense_Mutation_p.S162F NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 162 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGGTTCAGAAGAAACTTTTAC 0.448000 20 51 0 0 0.008871 0 0 CTXN3 613212 broad.mit.edu 37 5 126993429 126993429 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:126993429G>A ENST00000379445.3 + 3 767 c.216G>A c.(214-216)gaG>gaA p.E72E CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Silent_p.E72E NM_001048252.2 NP_001041717.1 Q4LDR2 CTXN3_HUMAN cortexin 3 72 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) AAGGCCTGGAGAAAGGGCAGT 0.502000 16 34 0 0 0.004990 0 0 KCNK15 60598 broad.mit.edu 37 20 43379087 43379087 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:43379087G>A ENST00000372861.3 + 2 732 c.601G>A c.(601-603)Ggc>Agc p.G201S NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 201 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CACCACCATCGGCTTCGGCGA 0.647000 41 142 0 0 0.013114 0 0 ITGAX 3687 broad.mit.edu 37 16 31374258 31374258 + Silent SNP C C T rs147426364 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:31374258C>T ENST00000268296.4 + 13 1483 c.1362C>T c.(1360-1362)atC>atT p.I454I ITGAX_ENST00000562522.1_Silent_p.I454I NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 454 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCCTTCAGATCGGCTCCTACT 0.672000 64 156 0 0 0.014410 0 0 C7 730 broad.mit.edu 37 5 40955571 40955571 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:40955571G>A ENST00000313164.9 + 10 1535 c.1176G>A c.(1174-1176)gaG>gaA p.E392E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 392 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTTACCTAGAGCTGGACAATC 0.453000 35 78 0 0 0.003271 0 0 NCR3 259197 broad.mit.edu 37 6 31557699 31557699 + Missense_Mutation SNP G G A rs34469029 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31557699G>A ENST00000376073.4 - 2 511 c.248C>T c.(247-249)tCc>tTc p.S83F NCR3_ENST00000376071.4_Intron|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Missense_Mutation_p.S83F|NCR3_ENST00000340027.5_Missense_Mutation_p.S83F NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 83 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 GAGGAAACGGGAAGAAGCAAG 0.617000 75 210 0 0 0.014410 0 0 TLR4 7099 broad.mit.edu 37 9 120475341 120475341 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:120475341C>T ENST00000355622.6 + 3 1036 c.935C>T c.(934-936)tCa>tTa p.S312L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S272L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 312 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 AATGTTTCTTCATTTTCCCTG 0.328000 22 52 0 0 0.012319 0 0 MAX 4149 broad.mit.edu 37 14 65544615 65544615 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:65544615G>A ENST00000284165.6 - 4 459 c.311C>T c.(310-312)tCg>tTg p.S104L MAX_ENST00000557746.1_Intron|MAX_ENST00000556979.1_Intron|MAX_ENST00000341653.2_Intron|MAX_ENST00000358664.4_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.S95L|MAX_ENST00000358402.4_Intron|MAX_ENST00000555667.1_Intron|MAX_ENST00000557277.1_Intron|MAX_ENST00000555419.1_Intron NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 0 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GCTGCCCCACGAGCTCGGGTG 0.572000 30 79 0 0 0.006320 0 0 CASC1 55259 broad.mit.edu 37 12 25261710 25261710 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:25261710G>A ENST00000395990.2 - 17 2060 c.1803C>T c.(1801-1803)gcC>gcT p.A601A CASC1_ENST00000545133.1_Silent_p.A582A|CASC1_ENST00000354189.5_Intron|CASC1_ENST00000320267.9_Silent_p.A641A|CASC1_ENST00000537577.1_Intron|CASC1_ENST00000395987.3_Silent_p.A647A NM_001204102.1 NP_001191031.1 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 641 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) ACATTAAAAGGGCCCAATTAG 0.358000 15 41 0 0 0.004007 0 0 TRIML2 205860 broad.mit.edu 37 4 189020328 189020328 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:189020328C>T ENST00000512729.1 - 4 706 c.330_splice c.e4-1 p.R111_splice TRIML2_ENST00000536972.1_Splice_Site_p.R161_splice|TRIML2_ENST00000326754.3_Splice_Site_p.R111_splice NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 111 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) ACGGCCCAGTCTCTGCAGAAG 0.453000 39 216 0 0 0.008740 0 0 PORCN 64840 broad.mit.edu 37 X 48372729 48372729 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:48372729C>T ENST00000367574.4 + 7 1080 c.575C>T c.(574-576)aCc>aTc p.T192I PORCN_ENST00000326194.6_Missense_Mutation_p.T274I|PORCN_ENST00000361988.3_Missense_Mutation_p.T263I|PORCN_ENST00000355961.4_Missense_Mutation_p.T269I|PORCN_ENST00000355092.3_Missense_Mutation_p.T268I|PORCN_ENST00000359882.4_Missense_Mutation_p.T268I|PORCN_ENST00000537758.1_Missense_Mutation_p.T274I Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 274 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCTGGCTTTACCGAGGAGAAG 0.632000 21 45 0 0 0.008871 0 0 KCNH7 90134 broad.mit.edu 37 2 163374317 163374317 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:163374317C>T ENST00000332142.5 - 4 914 c.815G>A c.(814-816)aGa>aAa p.R272K KCNH7_ENST00000328032.4_Missense_Mutation_p.R272K|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 272 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) CGAAGATGCTCTCCGTATACT 0.458000 10 40 0 0 0.006214 0 0 OR13C8 138802 broad.mit.edu 37 9 107332092 107332092 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:107332092C>T ENST00000335040.1 + 1 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 215 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 TTAGTAATTTCCATCTCTTAC 0.418000 39 112 0 0 0.006230 0 0 OR51E1 143503 broad.mit.edu 37 11 4673996 4673996 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4673996C>T ENST00000396952.5 + 2 890 c.240C>T c.(238-240)tcC>tcT p.S80S OR51E1_ENST00000530215.1_Intron NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 79 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) CCACCTCATCCATGCCCAAAA 0.468000 24 62 0 0 0.005443 0 0 DNAH3 55567 broad.mit.edu 37 16 21048078 21048078 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:21048078C>T ENST00000261383.3 - 35 5042 c.5043G>A c.(5041-5043)atG>atA p.M1681I DNAH3_ENST00000415178.1_Missense_Mutation_p.M1681I NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1681 AAA 2 (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) GCTGGAGTTTCATCTTTTTGA 0.368000 34 56 0 0 0.005524 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013256 142013256 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142013256G>A ENST00000390357.3 + 0 140 TGACAAATAAGAAGTCTTTGA 0.458000 32 87 0 0 0.008361 0 0 ZNF142 7701 broad.mit.edu 37 2 219513622 219513622 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:219513622G>A ENST00000411696.2 - 5 1788 c.1009C>T c.(1009-1011)Cac>Tac p.H337Y ZNF142_ENST00000449707.1_Missense_Mutation_p.H337Y P52746 ZN142_HUMAN zinc finger protein 142 337 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) TGACTCTTGTGGTGGGCCTCC 0.562000 OREG0015202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 69 0 0 0.014323 0 0 ZNF224 7767 broad.mit.edu 37 19 44611467 44611467 + Missense_Mutation SNP C C T rs138098649 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:44611467C>T ENST00000336976.6 + 6 1408 c.1154C>T c.(1153-1155)tCg>tTg p.S385L AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 385 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AGATGGGCCTCGTGTCTTTTG 0.418000 52 57 0 0 0.014410 0 0 CASR 846 broad.mit.edu 37 3 122001074 122001074 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:122001074G>A ENST00000498619.1 + 6 2191 c.1753G>A c.(1753-1755)Gat>Aat p.D585N CASR_ENST00000490131.1_Missense_Mutation_p.D575N|CASR_ENST00000296154.5_Missense_Mutation_p.D575N NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 575 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) GGAGTATAGTGATGAGACAGG 0.602000 89 139 0 0 0.014410 0 0 HAL 3034 broad.mit.edu 37 12 96379924 96379924 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:96379924G>A ENST00000261208.3 - 13 1434 c.1066C>T c.(1066-1068)Cga>Tga p.R356* HAL_ENST00000541929.1_Nonsense_Mutation_p.R148*|HAL_ENST00000538703.1_Nonsense_Mutation_p.R356* NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 356 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CGGTGAGGTCGAAGAGCATGA 0.423000 23 48 0 0 0.003954 0 0 BTNL3 10917 broad.mit.edu 37 5 180432727 180432727 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:180432727C>T ENST00000342868.6 + 8 1440 c.1256C>T c.(1255-1257)tCc>tTc p.S419F NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 419 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGGACCATCTCCTTCTTCAAT 0.478000 25 48 0 0 0.005443 0 0 CHST1 8534 broad.mit.edu 37 11 45671922 45671922 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:45671922C>T ENST00000308064.2 - 4 1222 c.552G>A c.(550-552)aaG>aaA p.K184K NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 184 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GTAGCCCGCACTTGCGCACAC 0.731000 17 78 0 0 0.004990 0 0 CHD8 57680 broad.mit.edu 37 14 21894393 21894393 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:21894393G>A ENST00000399982.2 - 4 1674 c.1610C>T c.(1609-1611)aCt>aTt p.T537I CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.T258I|CHD8_ENST00000557364.1_Missense_Mutation_p.T537I NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 537 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CACTACAGGAGTGATGGTGCT 0.358000 15 22 0 0 0.004007 0 0 TRIM11 81559 broad.mit.edu 37 1 228582482 228582482 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:228582482G>A ENST00000493030.2 - 5 4665 c.956C>T c.(955-957)cCc>cTc p.P319L TRIM11_ENST00000284551.6_Missense_Mutation_p.P444L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 444 B30.2/SPRY. P -> S (in Ref. 2; BAG53535). 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) GCTGGACAGGGGTGAGAAGAG 0.637000 33 65 0 0 0.003271 0 0 SLC25A12 8604 broad.mit.edu 37 2 172700924 172700924 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:172700924G>T ENST00000422440.2 - 5 457 c.420C>A c.(418-420)aaC>aaA p.N140K SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.N33K NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 140 EF-hand 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) GCTTCTTCCGGTTATGCCCAA 0.353000 33 107 3.86903e-22 3.96151e-22 0.013726 1 0 LHCGR 3973 broad.mit.edu 37 2 48936103 48936103 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:48936103T>G ENST00000294954.7 - 8 685 c.664A>C c.(664-666)Aca>Cca p.T222P LHCGR_ENST00000403273.1_Missense_Mutation_p.T222P|LHCGR_ENST00000401907.1_Missense_Mutation_p.T222P|LHCGR_ENST00000405626.1_Missense_Mutation_p.T222P|LHCGR_ENST00000344775.3_Missense_Mutation_p.T222P|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 222 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TTCGGCCCTGTGGCCCCACGG 0.547000 41 125 0 0 0.014410 0 0 C19orf45 374877 broad.mit.edu 37 19 7573215 7573215 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:7573215G>A ENST00000361664.2 + 9 1558 c.1417G>A c.(1417-1419)Ggc>Agc p.G473S CTD-2207O23.12_ENST00000599312.1_Intron NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 473 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 TCCTCAGGAGGGCTTCGTGCC 0.597000 14 54 0 0 0.003163 0 0 PTPN21 11099 broad.mit.edu 37 14 88945806 88945806 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:88945806G>A ENST00000556564.1 - 13 2253 c.1969C>T c.(1969-1971)Cta>Tta p.L657L PTPN21_ENST00000328736.3_Silent_p.L657L NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 657 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GACGCGGATAGGGTGCGCTCC 0.721000 14 36 0 0 0.001855 0 0 ZNF695 57116 broad.mit.edu 37 1 247150781 247150781 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:247150781G>A ENST00000339986.7 - 4 1183 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 346 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCTCCAGTATGAATTCTTCTA 0.383000 21 41 0 0 0.008871 0 0 TPH1 7166 broad.mit.edu 37 11 18054885 18054885 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:18054885G>A ENST00000250018.2 - 3 900 c.338C>T c.(337-339)tCt>tTt p.S113F TPH1_ENST00000341556.2_Missense_Mutation_p.S113F NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 113 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) GTCCAGGTCAGAAATCTTCTT 0.328000 44 258 0 0 0.014410 0 0 PRRG1 5638 broad.mit.edu 37 X 37312440 37312440 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:37312440G>A ENST00000542554.1 + 5 495 c.223G>A c.(223-225)Gga>Aga p.G75R PRRG1_ENST00000378628.4_Missense_Mutation_p.G75R|PRRG1_ENST00000543642.1_Missense_Mutation_p.G75R|PRRG1_ENST00000491253.1_3'UTR|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G75R NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 75 extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 GAGTAACCGAGGAAGTGACTG 0.373000 16 18 0 0 0.003163 0 0 PCNT 5116 broad.mit.edu 37 21 47860833 47860833 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47860833G>A ENST00000359568.5 + 43 9566 c.9459G>A c.(9457-9459)aaG>aaA p.K3153K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 3153 Interaction with NEK2. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TTTATCAAAAGAAGTATCTTT 0.368000 42 143 0 0 0.007835 0 0 TMTC2 160335 broad.mit.edu 37 12 83251033 83251033 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:83251033C>T ENST00000549919.1 + 3 2115 c.310C>T c.(310-312)Ctt>Ttt p.L104F TMTC2_ENST00000321196.3_Missense_Mutation_p.L110F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L110F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 110 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CAAGATCCTCCTTGGTGATGG 0.532000 38 128 0 0 0.006230 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476979 20476979 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:20476979G>A ENST00000573854.1 + 3 432 c.318G>A c.(316-318)ggG>ggA p.G106G ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Silent_p.G27G|ACSM2A_ENST00000396104.2_Silent_p.G106G|ACSM2A_ENST00000219054.6_Silent_p.G106G|ACSM2A_ENST00000575690.1_Silent_p.G106G|ACSM2A_ENST00000424070.1_Silent_p.G106G NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 106 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TGCAGCGTGGGGATCGTGTGG 0.572000 8 78 0 0 0.004482 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809344 18809344 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:18809344C>T ENST00000400664.1 + 1 1921 c.1869C>T c.(1867-1869)ttC>ttT p.F623F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 623 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) GTGACACGTTCGCCCTGGCGC 0.667000 13 38 0 0 0.002450 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270696 1270696 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:1270696C>T ENST00000348261.5 + 35 7012 c.6764C>T c.(6763-6765)tCc>tTc p.S2255F CACNA1H_ENST00000565831.1_Missense_Mutation_p.S2249F|CACNA1H_ENST00000358590.4_Missense_Mutation_p.S2249F NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2255 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGCCAGGCCTCCTGCCGGGCT 0.697000 15 25 0 0 0.002450 0 0 KSR2 283455 broad.mit.edu 37 12 117968819 117968819 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:117968819C>T ENST00000425217.1 - 12 1697 c.e12-1 KSR2_ENST00000339824.5_Splice_Site|KSR2_ENST00000545002.1_Splice_Site|KSR2_ENST00000302438.5_Splice_Site NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCACCACATCTGAAAACCAG 0.547000 70 168 0 0 0.014410 0 0 AADAC 13 broad.mit.edu 37 3 151531958 151531958 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:151531958G>A ENST00000232892.6 + 1 134 c.8G>A c.(7-9)aGa>aAa p.R3K RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R3K|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 3 R -> M (in Ref. 6; AA sequence). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) ACCATGGGAAGAAAATCGCTG 0.423000 35 173 0 0 0.005524 0 0 PTPRC 5788 broad.mit.edu 37 1 198685852 198685852 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:198685852G>A ENST00000367376.2 + 13 1498 c.1327G>A c.(1327-1329)Gat>Aat p.D443N PTPRC_ENST00000348564.6_Missense_Mutation_p.D284N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D395N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D282N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D445N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 443 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GATCAAATATGATTTGCAAAA 0.318000 37 93 0 0 0.004878 0 0 TWF1 5756 broad.mit.edu 37 12 44193204 44193204 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:44193204A>T ENST00000395510.2 - 5 609 c.480T>A c.(478-480)aaT>aaA p.N160K TWF1_ENST00000325127.4_Missense_Mutation_p.N194K|TWF1_ENST00000552521.1_Missense_Mutation_p.N62K|TWF1_ENST00000548315.1_Missense_Mutation_p.N160K NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 160 actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) AACTTACCTCATTGATTTTAA 0.333000 6 27 0 0 0.003080 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136054 40136054 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:40136054G>A ENST00000278198.2 - 2 3752 c.1789C>T c.(1789-1791)Cac>Tac p.H597Y LRRC4C_ENST00000528697.1_Missense_Mutation_p.H597Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H597Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H597Y Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 597 regulation of axonogenesis integral to membrane protein binding p.H597N(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) GAGTTATAGTGATTTAGGTGC 0.408000 13 100 0 0 0.001855 0 0 NPNT 255743 broad.mit.edu 37 4 106861297 106861297 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:106861297G>A ENST00000379987.2 + 6 787 c.571G>A c.(571-573)Ggg>Agg p.G191R NPNT_ENST00000305572.8_Missense_Mutation_p.G191R|NPNT_ENST00000453617.2_Missense_Mutation_p.G208R|NPNT_ENST00000427316.2_Missense_Mutation_p.G221R|NPNT_ENST00000514622.1_Missense_Mutation_p.G191R|NPNT_ENST00000506666.1_Missense_Mutation_p.G221R NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 191 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CAACACTTTTGGGAGCTACAT 0.403000 21 64 0 0 0.010504 0 0 NES 10763 broad.mit.edu 37 1 156640516 156640516 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:156640516G>A ENST00000368223.3 - 4 3596 c.3464C>T c.(3463-3465)tCc>tTc p.S1155F NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1155 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGCAGCTCGGAGAACTCTGT 0.632000 64 146 0 0 0.014410 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52001352 52001352 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:52001352C>T ENST00000291707.3 - 5 1380 c.1325G>A c.(1324-1326)gGg>gAg p.G442E SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G324E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 442 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) GGTGAATTCCCCTTCATCCTT 0.617000 21 43 0 0 0.008871 0 0 ACSM1 116285 broad.mit.edu 37 16 20696539 20696539 + Translation_Start_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:20696539C>T ENST00000219151.4 - 0 446 ACSM1_ENST00000520010.1_Missense_Mutation_p.V127M|ACSM1_ENST00000307493.4_Missense_Mutation_p.V127M Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CCCACAGCCACCAGCCACCAC 0.577000 7 75 0 0 0.001984 0 0 SI 6476 broad.mit.edu 37 3 164777010 164777010 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:164777010G>A ENST00000264382.3 - 11 1286 c.1224C>T c.(1222-1224)ctC>ctT p.L408L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 408 Isomaltase. 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) CAAATTGAGGGAGTCCGTTAA 0.338000 HNSCC(35;0.089) 21 24 0 0 0.014323 0 0 SYNE2 23224 broad.mit.edu 37 14 64476784 64476784 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:64476784C>T ENST00000358025.3 + 32 4908 c.4678C>T c.(4678-4680)Ctg>Ttg p.L1560L SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L1560L|SYNE2_ENST00000344113.4_Silent_p.L1560L NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1560 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTCATCTCCCTGCAGGCTTC 0.418000 12 32 0 0 0.013537 0 0 C8B 732 broad.mit.edu 37 1 57425832 57425832 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57425832G>A ENST00000371237.4 - 2 176 c.110C>T c.(109-111)tCc>tTc p.S37F C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR NM_000066.2 NP_000057.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 37 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 TGACCCAAAGGAATGTGGCCT 0.418000 22 89 0 0 0.003330 0 0 LRRC66 339977 broad.mit.edu 37 4 52860987 52860987 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:52860987G>A ENST00000343457.3 - 4 2207 c.2201C>T c.(2200-2202)tCc>tTc p.S734F NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 734 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GTCCTGCAGGGACTCCTCATC 0.507000 22 100 0 0 0.012319 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114098849 114098849 + Silent SNP G G A rs138609269 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:114098849G>A ENST00000356501.4 - 2 199 c.24C>T c.(22-24)atC>atT p.I8I ADPRHL1_ENST00000375418.3_Silent_p.I90I NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 90 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) GCTTCTCAACGATTTCCACAT 0.547000 207 124 0 0 0.014410 0 0 C2CD3 26005 broad.mit.edu 37 11 73843971 73843971 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:73843971G>A ENST00000334126.7 - 7 1361 c.1135C>T c.(1135-1137)Cac>Tac p.H379Y C2CD3_ENST00000313663.7_Missense_Mutation_p.H379Y|C2CD3_ENST00000539061.1_Missense_Mutation_p.H379Y Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 379 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GGGAGGAGGTGATCTTCAATG 0.408000 27 49 0 0 0.003954 0 0 RASSF6 166824 broad.mit.edu 37 4 74453570 74453570 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:74453570C>T ENST00000307439.5 - 5 663 c.369G>A c.(367-369)agG>agA p.R123R RASSF6_ENST00000395777.2_Silent_p.R123R|RASSF6_ENST00000342081.3_Silent_p.R155R|RASSF6_ENST00000335049.5_Silent_p.R111R NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 155 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CCTGGGAATTCCTTTTTTCAG 0.368000 13 29 0 0 0.003163 0 0 CHMP7 91782 broad.mit.edu 37 8 23106782 23106782 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:23106782C>T ENST00000397677.1 + 3 1007 c.359C>T c.(358-360)tCc>tTc p.S120F CHMP7_ENST00000313219.7_Missense_Mutation_p.S120F NM_152272.3 NP_689485.1 Q8WUX9 CHMP7_HUMAN charged multivesicular body protein 7 120 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGCTGGATCTCCTGGGGGGTT 0.542000 50 107 0 0 0.014410 0 0 ITGA7 3679 broad.mit.edu 37 12 56090706 56090706 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:56090706C>T ENST00000257880.7 - 13 2065 c.1846G>A c.(1846-1848)Gga>Aga p.G616R ITGA7_ENST00000394230.2_Missense_Mutation_p.G576R|ITGA7_ENST00000347027.6_Missense_Mutation_p.G566R|ITGA7_ENST00000553804.1_Missense_Mutation_p.G576R|ITGA7_ENST00000394229.2_Missense_Mutation_p.G572R|ITGA7_ENST00000555728.1_Missense_Mutation_p.G616R|ITGA7_ENST00000452168.2_Missense_Mutation_p.G479R|ITGA7_ENST00000257879.6_Missense_Mutation_p.G572R Q13683 ITA7_HUMAN integrin, alpha 7 616 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 ATGGCGTCTCCACAGACTCGG 0.572000 21 60 0 0 0.003330 0 0 DDX28 55794 broad.mit.edu 37 16 68056770 68056770 + Silent SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:68056770C>G ENST00000332395.5 - 1 1000 c.336G>C c.(334-336)gcG>gcC p.A112A NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 112 mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) CCTCCTGTTGCGCGCGCTCGA 0.692000 4 19 0 0 0.009096 0 0 COX8C 341947 broad.mit.edu 37 14 93814420 93814420 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:93814420C>T ENST00000342144.2 + 2 251 c.173C>T c.(172-174)cCa>cTa p.P58L UNC79_ENST00000256339.4_Intron NM_182971.2 NP_892016.1 Q7Z4L0 COX8C_HUMAN cytochrome c oxidase subunit VIIIC 58 integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity large_intestine(1)|lung(1)|prostate(2)|skin(1) 5 all_cancers(154;0.083) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) TTCTTAACACCAGCTGCATAT 0.443000 36 120 0 0 0.004878 0 0 TRIM37 4591 broad.mit.edu 37 17 57134297 57134297 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:57134297G>A ENST00000376149.3 - 13 1581 c.772C>T c.(772-774)Cgt>Tgt p.R258C TRIM37_ENST00000393066.3_Missense_Mutation_p.R380C|TRIM37_ENST00000262294.7_Missense_Mutation_p.R380C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R346C O94972 TRI37_HUMAN tripartite motif containing 37 380 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) AAGTCCAAACGGAAAAATCTA 0.358000 Mulibrey Nanism 23 117 0 0 0.003330 0 0 ABCA2 20 broad.mit.edu 37 9 139912449 139912449 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:139912449G>A ENST00000265662.5 - 15 2219 c.2072C>T c.(2071-2073)cCc>cTc p.P691L ABCA2_ENST00000371605.3_Missense_Mutation_p.P690L|ABCA2_ENST00000341511.6_Missense_Mutation_p.P691L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 690 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCAGGGGTAGGGGAACATCTG 0.672000 9 48 0 0 0.010729 0 0 OR12D3 81797 broad.mit.edu 37 6 29342884 29342884 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:29342884G>A ENST00000396806.3 - 1 184 c.181C>T c.(181-183)Ctg>Ttg p.L61L OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 AGGTTTCCCAGAAAAAAATAC 0.398000 29 42 0 0 0.006320 0 0 LPA 4018 broad.mit.edu 37 6 161006102 161006102 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:161006102C>T ENST00000447678.1 - 27 4385 c.4265G>A c.(4264-4266)aGg>aAg p.R1422K LPA_ENST00000316300.5_Missense_Mutation_p.R1422K NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3930 Kringle 13. 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) TAATGGGATCCTCCGATGCCA 0.443000 49 100 0 0 0.014410 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509479 110509479 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110509479C>T ENST00000378402.5 + 65 10681 c.10577C>T c.(10576-10578)tCc>tTc p.S3526F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3526 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) CACAAAATTTCCAGTAAAAAT 0.358000 HNSCC(38;0.096) 17 41 0 0 0.004990 0 0 TTF2 8458 broad.mit.edu 37 1 117618454 117618454 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:117618454C>T ENST00000369466.3 + 5 1292 c.1248C>T c.(1246-1248)taC>taT p.Y416Y NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 416 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GGCGTGTCTACCTTACAACAC 0.463000 109 85 0 0 0.014410 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40647107 40647107 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:40647107C>T ENST00000343619.4 + 13 1493 c.1370C>T c.(1369-1371)tCc>tTc p.S457F ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.S457F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.S414F|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.S464F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.S457F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.S103F|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.S414F NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 457 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) GGTGTGTTCTCCATGTACACT 0.413000 95 263 0 0 0.014410 0 0 PXK 54899 broad.mit.edu 37 3 58395827 58395827 + Missense_Mutation SNP G G A rs141886525 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:58395827G>A ENST00000463280.1 + 14 1398 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q PXK_ENST00000383716.3_Missense_Mutation_p.R436Q|PXK_ENST00000383715.4_Missense_Mutation_p.R452Q|PXK_ENST00000536660.1_Missense_Mutation_p.R332Q|PXK_ENST00000356151.2_Missense_Mutation_p.R469Q|PXK_ENST00000484288.1_Missense_Mutation_p.R469Q|PXK_ENST00000479241.1_Missense_Mutation_p.R452Q|PXK_ENST00000302779.5_Missense_Mutation_p.R452Q Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 469 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AAGTCAAAACGATCTGCTCTT 0.403000 24 71 0 0 0.004656 0 0 SYNM 23336 broad.mit.edu 37 15 99672295 99672295 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:99672295G>A ENST00000336292.6 + 5 3847 c.3727G>A c.(3727-3729)Ggg>Agg p.G1243R SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1244 Interaction with TLN1 and VCL.|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 TTCTGCTGCAGGGAAGGTTGG 0.478000 46 112 0 0 0.014410 0 0 THAP4 51078 broad.mit.edu 37 2 242542426 242542426 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:242542426G>A ENST00000407315.1 - 4 1900 c.1469C>T c.(1468-1470)cCc>cTc p.P490L THAP4_ENST00000402545.1_Missense_Mutation_p.P78L|THAP4_ENST00000402136.1_Missense_Mutation_p.P78L NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 490 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-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;0.0844) GTTGGTGTCGGGCTTGAGGCG 0.627000 46 145 0 0 0.014410 0 0 ELN 2006 broad.mit.edu 37 7 73459572 73459572 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:73459572G>A ENST00000252034.7 + 10 889 c.490G>A c.(490-492)Ggg>Agg p.G164R ELN_ENST00000380575.4_Missense_Mutation_p.G154R|ELN_ENST00000458204.1_Missense_Mutation_p.G154R|ELN_ENST00000380584.4_Missense_Mutation_p.G164R|ELN_ENST00000358929.4_Missense_Mutation_p.G164R|ELN_ENST00000445912.1_Missense_Mutation_p.G164R|ELN_ENST00000320399.6_Missense_Mutation_p.G164R|ELN_ENST00000429192.1_Missense_Mutation_p.G169R|ELN_ENST00000380576.5_Missense_Mutation_p.G164R|ELN_ENST00000380562.4_Missense_Mutation_p.G164R|ELN_ENST00000414324.1_Missense_Mutation_p.G159R|ELN_ENST00000357036.5_Missense_Mutation_p.G169R|ELN_ENST00000320492.7_Missense_Mutation_p.G152R|ELN_ENST00000380553.4_Intron NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 164 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCCCGGTGTGGGGGTGCTCCC 0.652000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 18 111 0 0 0.010504 0 0 DCAF17 80067 broad.mit.edu 37 2 172333454 172333454 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:172333454C>T ENST00000375255.3 + 11 1503 c.1176C>T c.(1174-1176)aaC>aaT p.N392N DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 392 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 ACAGGGAGAACCATAAAGTAA 0.313000 13 37 0 0 0.003163 0 0 DMD 1756 broad.mit.edu 37 X 31152236 31152236 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:31152236G>A ENST00000357033.4 - 77 11203 c.10997C>T c.(10996-10998)tCc>tTc p.S3666F DMD_ENST00000378707.3_Missense_Mutation_p.S1206F|DMD_ENST00000378677.2_Missense_Mutation_p.S3662F|DMD_ENST00000541735.1_Missense_Mutation_p.S1096F|DMD_ENST00000343523.2_Missense_Mutation_p.S1096F|DMD_ENST00000474231.1_Missense_Mutation_p.S1206F|DMD_ENST00000378680.2_Missense_Mutation_p.S488F|DMD_ENST00000378723.3_Missense_Mutation_p.S598F|DMD-AS1_ENST00000481143.1_RNA|DMD_ENST00000359836.1_Missense_Mutation_p.S1193F|DMD_ENST00000378702.4_Missense_Mutation_p.S598F|DMD_ENST00000361471.4_Missense_Mutation_p.S585F NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3666 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACTAGGGAAGGAGTTGTTGAG 0.468000 17 25 0 0 0.007413 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137648 40137648 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:40137648T>A ENST00000278198.2 - 2 2158 c.195A>T c.(193-195)aaA>aaT p.K65N LRRC4C_ENST00000528697.1_Missense_Mutation_p.K65N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K65N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.K65N Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 65 LRRNT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CACGCAGGTTTTTCCGAACAC 0.527000 20 25 0 0 0.010504 0 0 IQSEC2 23096 broad.mit.edu 37 X 53283776 53283776 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:53283776G>A ENST00000396435.3 - 4 1537 c.1337C>T c.(1336-1338)tCc>tTc p.S446F IQSEC2_ENST00000375365.2_Missense_Mutation_p.S241F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S436F NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 436 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 TGTGGTGACGGAGCTTCCACC 0.577000 28 56 0 0 0.009535 0 0 CERKL 375298 broad.mit.edu 37 2 182468673 182468673 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:182468673G>A ENST00000410087.3 - 2 472 c.372C>T c.(370-372)atC>atT p.I124I CERKL_ENST00000374970.2_Silent_p.I124I|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Silent_p.I124I|CERKL_ENST00000409440.3_Silent_p.I124I|CERKL_ENST00000339098.5_Silent_p.I124I NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 124 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTTTCAAGCAGATGAAGAGTG 0.323000 10 39 0 0 0.006214 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049685 90049685 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:90049685C>T ENST00000330947.2 + 5 1836 c.1476C>T c.(1474-1476)ctC>ctT p.L492L LRRC8B_ENST00000358200.4_Silent_p.L492L|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.L492L NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 492 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TAAAAATCCTCCGCCTGAAAT 0.458000 41 62 0 0 0.009718 0 0 MIR646HG 284757 broad.mit.edu 37 20 58883550 58883550 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:58883550G>A ENST00000432910.1 + 0 332 MIR646_ENST00000385067.1_RNA NR_046099.1 gtctgccagtggagtcagcac 0.567000 26 46 0 0 0.006320 0 0 LAX1 54900 broad.mit.edu 37 1 203743453 203743453 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:203743453G>A ENST00000442561.2 + 5 1231 c.841G>A c.(841-843)Gaa>Aaa p.E281K LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.E265K NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 281 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) TGCCATCCAGGAAAGGCAGCT 0.502000 34 71 0 0 0.003271 0 0 OGDH 4967 broad.mit.edu 37 7 44736150 44736150 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:44736150C>T ENST00000222673.5 + 14 1936 c.1894C>T c.(1894-1896)Cat>Tat p.H632Y OGDH_ENST00000543843.1_Missense_Mutation_p.H583Y|OGDH_ENST00000439616.2_Missense_Mutation_p.H482Y|OGDH_ENST00000444676.1_Missense_Mutation_p.H647Y|OGDH_ENST00000449767.1_Missense_Mutation_p.H628Y|OGDH_ENST00000447398.1_Missense_Mutation_p.H643Y NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 632 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) CTTTACTATTCATGGAGGTAA 0.567000 12 93 0 0 0.002450 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125828946 125828946 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:125828946C>T ENST00000393434.2 - 20 2537 c.2188G>A c.(2188-2190)Gag>Aag p.E730K ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E730K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E629K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E740K|ALDH1L1_ENST00000393431.2_3'UTR NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 730 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TTCCGCACCTCTTCTACCTGC 0.577000 80 100 0 0 0.014410 0 0 LY75 4065 broad.mit.edu 37 2 160746742 160746742 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:160746742C>T ENST00000263636.4 - 4 811 c.784G>A c.(784-786)Gaa>Aaa p.E262K LY75_ENST00000553424.1_Missense_Mutation_p.E262K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E262K|LY75_ENST00000554112.1_Missense_Mutation_p.E262K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E262K NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TAAGTTAATTCAGCAGCACTG 0.353000 18 54 0 0 0.008871 0 0 HCN1 348980 broad.mit.edu 37 5 45645518 45645518 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:45645518G>A ENST00000303230.4 - 2 675 c.618C>T c.(616-618)atC>atT p.I206I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 206 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 GGTCCAGGATGATTTCAGAAC 0.378000 17 43 0 0 0.004007 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671068 112671068 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:112671068G>A ENST00000441065.2 + 3 470 c.158G>A c.(157-159)cGa>cAa p.R53Q RP11-506B6.6_ENST00000587816.1_RNA NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 53 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) CCCTTGTGTCGAGACGTGGTG 0.463000 22 28 0 0 0.010504 0 0 OR10T2 128360 broad.mit.edu 37 1 158369079 158369079 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158369079T>C ENST00000334438.1 - 1 177 c.178A>G c.(178-180)Atg>Gtg p.M60V NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AAGCCATACATGGGAGTGTGG 0.473000 5 43 0 0 0.001168 0 0 RASGRF2 5924 broad.mit.edu 37 5 80369074 80369074 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:80369074G>A ENST00000265080.4 + 5 757 c.690G>A c.(688-690)caG>caA p.Q230Q RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 230 IQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCATCGTGCAGGATTACATTT 0.443000 29 60 0 0 0.006320 0 0 CCDC11 220136 broad.mit.edu 37 18 47778003 47778003 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:47778003G>A ENST00000398545.4 - 4 742 c.625C>T c.(625-627)Cga>Tga p.R209* NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 209 p.R209R(1) 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) TTGGCTAATCGGTCTTCCTCC 0.527000 119 151 0 0 0.014410 0 0 OR2M3 127062 broad.mit.edu 37 1 248366886 248366886 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248366886G>A ENST00000456743.1 + 1 555 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 173 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) TGGGTCTCGGGAAATAGCCCA 0.418000 61 161 0 0 0.014410 0 0 OR12D3 81797 broad.mit.edu 37 6 29342600 29342600 + Silent SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:29342600C>A ENST00000396806.3 - 1 468 c.465G>T c.(463-465)ctG>ctT p.L155L OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 CAGAATGCATCAGAGCGTAAA 0.488000 14 49 2.31682e-05 2.35182e-05 0.003163 1 0 NFX1 4799 broad.mit.edu 37 9 33351567 33351567 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:33351567A>C ENST00000379540.3 + 16 2496 c.2434A>C c.(2434-2436)Aac>Cac p.N812H NFX1_ENST00000379521.4_Missense_Mutation_p.N812H NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 812 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) GTTTCGGAGCAACATCCCCTG 0.468000 12 51 0 0 0.013537 0 0 OR52L1 338751 broad.mit.edu 37 11 6008029 6008029 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6008029C>T ENST00000332249.4 - 1 186 c.132G>A c.(130-132)tgG>tgA p.W44* NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGTGCAATCCAGTGCTGGC 0.488000 18 36 0 0 0.004990 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230393 140230393 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140230393C>T ENST00000378122.3 + 1 3037 c.2313C>T c.(2311-2313)gcC>gcT p.A771A PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A771A|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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) ACCTCATGGCCTTCAGCCCGG 0.577000 66 44 0 0 0.014410 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99995226 99995226 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:99995226C>T ENST00000314594.5 + 9 2422 c.325C>T c.(325-327)Ccc>Tcc p.P109S R3HCC1L_ENST00000298999.3_Missense_Mutation_p.P693S|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.P99S|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.P693S NM_001256619.1 NP_001243548.1 R3H domain and coiled-coil containing 1-like GAAGATTCGTCCCTTGTCACA 0.443000 15 18 0 0 0.007413 0 0 CPAMD8 27151 broad.mit.edu 37 19 17017847 17017847 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:17017847G>A ENST00000443236.1 - 30 4114 c.4083C>T c.(4081-4083)gcC>gcT p.A1361A NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1314 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGGTAGTCAGGGCACAGCTAT 0.657000 21 52 0 0 0.002780 0 0 TRHDE 29953 broad.mit.edu 37 12 73015504 73015504 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:73015504C>T ENST00000261180.4 + 15 2609 c.2513C>T c.(2512-2514)tCa>tTa p.S838L NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 838 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 ACACTTATTTCAGATTGGATT 0.393000 4 27 0 0 0.000602 0 0 SGSM1 129049 broad.mit.edu 37 22 25294347 25294347 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:25294347G>A ENST00000400358.4 + 19 2488 c.2431G>A c.(2431-2433)Gat>Aat p.D811N SGSM1_ENST00000400359.4_Missense_Mutation_p.D866N NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 866 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 TGAAAAGGACGATGTTGTGAT 0.587000 68 136 0 0 0.014410 0 0 TNP2 7142 broad.mit.edu 37 16 11363116 11363116 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:11363116C>T ENST00000312693.3 - 1 73 c.4G>A c.(4-6)Gac>Aac p.D2N RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 2 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 GTCTGGGTGTCCATAGGAGGC 0.592000 22 93 0 0 0.012319 0 0 CACNA1I 8911 broad.mit.edu 37 22 40036908 40036908 + Silent SNP G G A rs149938037 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:40036908G>A ENST00000336649.4 + 8 777 c.777G>A c.(775-777)ccG>ccA p.P259P CACNA1I_ENST00000404898.1_Silent_p.P259P|CACNA1I_ENST00000402142.3_Silent_p.P259P|CACNA1I_ENST00000400164.3_Silent_p.P259P|CACNA1I_ENST00000401624.1_Silent_p.P259P|CACNA1I_ENST00000407673.1_Silent_p.P259P Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 259 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ACTACCAGCCGGAGGAGGATG 0.602000 12 45 0 0 0.002450 0 0 RYR3 6263 broad.mit.edu 37 15 33988477 33988477 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:33988477C>T ENST00000389232.4 + 39 5989 c.5919C>T c.(5917-5919)atC>atT p.I1973I RYR3_ENST00000415757.3_Silent_p.I1973I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1973 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGGACCAGATCCAGGATTCAG 0.562000 21 74 0 0 0.008871 0 0 DNAH3 55567 broad.mit.edu 37 16 21049164 21049164 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:21049164C>T ENST00000261383.3 - 34 4868 c.4869G>A c.(4867-4869)gaG>gaA p.E1623E DNAH3_ENST00000415178.1_Silent_p.E1623E NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1623 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) CACTTTCATTCTCCTCTGGAT 0.512000 8 45 0 0 0.003080 0 0 TRIM39 56658 broad.mit.edu 37 6 30308352 30308352 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:30308352C>T ENST00000376659.5 + 7 1472 c.874C>T c.(874-876)Ccc>Tcc p.P292S TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.P204S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P322S|TRIM39_ENST00000540416.1_Missense_Mutation_p.P292S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P292S|TRIM39_ENST00000396551.3_Missense_Mutation_p.P292S|TRIM39_ENST00000396547.1_Missense_Mutation_p.P322S NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 CAGCAATTTTCCCCGACAGTA 0.413000 46 131 0 0 0.014410 0 0 MORC1 27136 broad.mit.edu 37 3 108751586 108751586 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:108751586G>A ENST00000232603.5 - 16 1628 c.1546C>T c.(1546-1548)Ccc>Tcc p.P516S MORC1_ENST00000483760.1_Missense_Mutation_p.P516S NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 516 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AAGCGGTTGGGATTATTAGCA 0.289000 26 37 0 0 0.004656 0 0 CPN1 1369 broad.mit.edu 37 10 101829527 101829527 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:101829527C>T ENST00000370418.3 - 3 771 c.520G>A c.(520-522)Gag>Aag p.E174K NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 174 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCGTACTTCTCGTTATAGTAG 0.483000 74 75 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13721244 13721244 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13721244G>A ENST00000265104.4 - 71 12248 c.12144C>T c.(12142-12144)ctC>ctT p.L4048L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4048 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) CCATAGACAGGAGACAGATGA 0.498000 Kartagener syndrome 30 83 0 0 0.012213 0 0 TRIM67 440730 broad.mit.edu 37 1 231349710 231349710 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:231349710A>G ENST00000444294.3 + 9 3125 c.2267A>G c.(2266-2268)aAc>aGc p.N756S TRIM67_ENST00000366652.2_Intron|TRIM67_ENST00000449018.3_Missense_Mutation_p.N696S|TRIM67_ENST00000366653.5_Missense_Mutation_p.N758S NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 758 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CTCAGCCTCAACCGCAACGTG 0.627000 13 54 0 0 0.002450 0 0 TLR5 7100 broad.mit.edu 37 1 223284112 223284112 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:223284112G>A ENST00000540964.1 - 4 2723 c.2262C>T c.(2260-2262)atC>atT p.I754I TLR5_ENST00000342210.6_Silent_p.I754I O60602 TLR5_HUMAN toll-like receptor 5 754 TIR. 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) CAAGACAAACGATCTTTCTAC 0.468000 44 62 0 0 0.013114 0 0 RFPL2 10739 broad.mit.edu 37 22 32587002 32587002 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:32587002G>A ENST00000400236.3 - 5 1829 c.624C>T c.(622-624)ttC>ttT p.F208F RFPL2_ENST00000248983.4_Silent_p.F208F|RFPL2_ENST00000400237.1_Silent_p.F298F|RFPL2_ENST00000248980.4_Silent_p.F237F|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 298 B30.2/SPRY. zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 TGCGGTCTACGAAGAGGAAAG 0.512000 23 49 0 0 0.006320 0 0 AGBL1 123624 broad.mit.edu 37 15 87066088 87066088 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:87066088C>T ENST00000441037.2 + 18 2560 c.2465C>T c.(2464-2466)tCt>tTt p.S822F AGBL1_ENST00000389298.3_Missense_Mutation_p.S553F|AGBL1_ENST00000421325.2_Missense_Mutation_p.S822F NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 822 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 CAATGGCTTTCTCCCAGTGCT 0.468000 44 99 0 0 0.009718 0 0 CNPY2 10330 broad.mit.edu 37 12 56708936 56708936 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:56708936C>T ENST00000273308.4 - 2 606 c.66G>A c.(64-66)agG>agA p.R22R RP11-977G19.10_ENST00000549318.1_Silent_p.R22R|CNPY2_ENST00000551720.1_5'UTR NM_014255.5 NP_055070.1 Q9Y2B0 CNPY2_HUMAN canopy FGF signaling regulator 2 22 endoplasmic reticulum|integral to plasma membrane protein binding large_intestine(2)|lung(2) 4 GATCCTGGCTCCTCCGAGCCC 0.597000 44 111 0 0 0.014410 0 0 TRPC7 57113 broad.mit.edu 37 5 135692631 135692631 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:135692631C>T ENST00000513104.1 - 2 727 c.445G>A c.(445-447)Gac>Aac p.D149N TRPC7_ENST00000426057.2_Missense_Mutation_p.D149N|TRPC7_ENST00000355180.3_Missense_Mutation_p.D149N NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 149 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) TAGAAGTCGTCGTCGCGCAGC 0.647000 56 63 0 0 0.014410 0 0 PGM1 5236 broad.mit.edu 37 1 64125271 64125271 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:64125271C>T ENST00000371083.4 + 11 2036 c.1668C>T c.(1666-1668)ccC>ccT p.P556P PGM1_ENST00000540265.1_Silent_p.P341P|PGM1_ENST00000371084.3_Silent_p.P538P NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 538 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTTGGCCCCCCTTATTTCCA 0.517000 30 71 0 0 0.012213 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779105 31779105 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31779105A>T ENST00000375654.4 - 2 834 c.645T>A c.(643-645)gaT>gaA p.D215E HSPA1L_ENST00000417199.3_Missense_Mutation_p.D215E NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 215 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 AAATCCCATCATCTATGGTCA 0.483000 240 497 0 0 0.014410 0 0 GDI2 2665 broad.mit.edu 37 10 5836859 5836859 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:5836859G>A ENST00000380191.4 - 4 667 c.377C>T c.(376-378)gCc>gTc p.A126V GDI2_ENST00000380181.3_Intron|GDI2_ENST00000380132.4_Missense_Mutation_p.A130V NM_001115156.1|NM_001494.3 NP_001108628.1|NP_001485.2 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 126 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 AGATGCCAGGGCTTCTGCTTC 0.373000 44 61 0 0 0.014410 0 0 MXRA8 54587 broad.mit.edu 37 1 1289773 1289773 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:1289773G>A ENST00000309212.6 - 6 1096 c.1066C>T c.(1066-1068)Ctg>Ttg p.L356L MXRA8_ENST00000445648.2_Silent_p.L356L|MXRA8_ENST00000342753.4_Silent_p.L255L NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 356 integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145) ACAGTGACCAGTAGCAGGATG 0.682000 17 41 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9005204 9005204 + Silent SNP G G A rs75792671 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9005204G>A ENST00000397910.4 - 47 40076 c.39873C>T c.(39871-39873)ccC>ccT p.P13291P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13293 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 TGCTGGTGGTGGGCACAGAGC 0.517000 10 51 0 0 0.010729 0 0 LRP1B 53353 broad.mit.edu 37 2 141294180 141294180 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141294180C>T ENST00000389484.3 - 46 8583 c.7612G>A c.(7612-7614)Gat>Aat p.D2538N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2538 LDL-receptor class A 11. 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) TCTGATTTATCTTTACAGTGA 0.393000 TSP Lung(27;0.18) 21 58 0 0 0.008871 0 0 FLNC 2318 broad.mit.edu 37 7 128491636 128491636 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:128491636C>T ENST00000325888.8 + 35 6057 c.5796C>T c.(5794-5796)ttC>ttT p.F1932F FLNC_ENST00000346177.6_Silent_p.F1899F|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1932 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 TCGTGCGCTTCGATGACAAGC 0.577000 43 114 0 0 0.014410 0 0 MPO 4353 broad.mit.edu 37 17 56350865 56350865 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:56350865G>A ENST00000340482.3 - 8 1803 c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C MPO_ENST00000225275.3_Missense_Mutation_p.R511C P05164 PERM_HUMAN myeloperoxidase 511 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) TTGTCCAGGCGGAACATGAAG 0.587000 90 240 0 0 0.014410 0 0 VCAN 1462 broad.mit.edu 37 5 82837715 82837715 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:82837715G>A ENST00000265077.3 + 8 9458 c.8893G>A c.(8893-8895)Gaa>Aaa p.E2965K VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1978K NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2965 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACTGCCGATGAAATTGAATT 0.468000 30 40 0 0 0.008361 0 0 TFF1 7031 broad.mit.edu 37 21 43783485 43783485 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:43783485C>T ENST00000291527.2 - 2 215 c.117G>A c.(115-117)caG>caA p.Q39Q NM_003225.2 NP_003216.1 P04155 TFF1_HUMAN trefoil factor 1 39 P-type. carbohydrate metabolic process|response to estradiol stimulus growth factor activity cervix(1)|lung(1) 2 AACCACAATTCTGTCTTTCAC 0.507000 24 68 0 0 0.003954 0 0 CST1 1469 broad.mit.edu 37 20 23731432 23731432 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:23731432C>T ENST00000304749.2 - 1 142 c.72G>A c.(70-72)aaG>aaA p.K24K CST1_ENST00000398402.1_Silent_p.K24K NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 24 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) TATCCTCCTCCTTGGGGCTCC 0.577000 21 65 0 0 0.012319 0 0 RGS3 5998 broad.mit.edu 37 9 116346364 116346364 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:116346364G>A ENST00000374140.2 + 21 2881 c.2672G>A c.(2671-2673)gGg>gAg p.G891E RGS3_ENST00000462143.1_Missense_Mutation_p.G212E|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374134.3_Missense_Mutation_p.G212E|RGS3_ENST00000350696.5_Missense_Mutation_p.G891E|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.G610E NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 891 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 gtggaggagggggaggaaggg 0.647000 20 54 0 0 0.008871 0 0 LCE1F 353137 broad.mit.edu 37 1 152749094 152749094 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152749094C>G ENST00000334371.2 + 1 247 c.247C>G c.(247-249)Cgt>Ggt p.R83G NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 83 Poly-Arg. 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) CCACAGACGGCGTAGGTCCCA 0.701000 31 75 0 0 0.007291 0 0 PYCR1 5831 broad.mit.edu 37 17 79891108 79891108 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:79891108G>A ENST00000329875.8 - 7 1006 c.942C>T c.(940-942)gcC>gcT p.A314A PYCR1_ENST00000337943.5_Intron|PYCR1_ENST00000402252.2_Silent_p.A341A|PYCR1_ENST00000403172.4_Silent_p.A283A|PYCR1_ENST00000577756.1_3'UTR NM_006907.2 NP_008838.2 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 314 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) TGCCCGCTGGGGCCAGGCTGC 0.622000 39 89 0 0 0.013114 0 0 ZNF831 128611 broad.mit.edu 37 20 57767866 57767866 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:57767866G>A ENST00000371030.2 + 1 1792 c.1792G>A c.(1792-1794)Ggc>Agc p.G598S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 598 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) GGCCATGGCCGGCAAGGGCAG 0.647000 33 88 0 0 0.012213 0 0 RETSAT 54884 broad.mit.edu 37 2 85571139 85571139 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:85571139G>A ENST00000295802.4 - 9 1628 c.1516C>T c.(1516-1518)Cca>Tca p.P506S RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.P445S NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 506 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TCCAGCTGTGGGAACAGTTTC 0.552000 119 250 0 0 0.014410 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900002 112900002 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:112900002C>T ENST00000374530.3 + 8 2358 c.2178C>T c.(2176-2178)ttC>ttT p.F726F AKAP2_ENST00000434623.2_Silent_p.F584F|AKAP2_ENST00000510514.5_Silent_p.F726F|AKAP2_ENST00000555236.1_Silent_p.F726F|AKAP2_ENST00000374525.1_Silent_p.F584F|PALM2-AKAP2_ENST00000302798.7_Silent_p.F726F|AKAP2_ENST00000259318.7_Silent_p.F495F NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 495 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CCAATGATTTCAGCATGGACA 0.502000 38 133 0 0 0.006999 0 0 OSMR 9180 broad.mit.edu 37 5 38876418 38876418 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:38876418G>A ENST00000274276.3 + 3 591 c.189G>A c.(187-189)ttG>ttA p.L63L OSMR_ENST00000502536.1_Silent_p.L63L NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 63 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) ATCAGGAATTGAAAATGGTAT 0.358000 35 54 0 0 0.013726 0 0 LIPI 149998 broad.mit.edu 37 21 15561499 15561499 + Silent SNP G G A rs148528170 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:15561499G>A ENST00000344577.2 - 2 376 c.351C>T c.(349-351)ttC>ttT p.F117F LIPI_ENST00000536861.1_Silent_p.F96F NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 96 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.F117F(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AAATCCTTACGAAGTTCTGAA 0.368000 31 77 0 0 0.009535 0 0 LRP1 4035 broad.mit.edu 37 12 57561243 57561243 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57561243C>T ENST00000243077.3 + 19 3397 c.2931C>T c.(2929-2931)ttC>ttT p.F977F LRP1_ENST00000553446.1_3'UTR NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 977 LDL-receptor class A 6. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCACCTGCTTCCCCCTGACTC 0.522000 54 138 0 0 0.014410 0 0 IMPACT 55364 broad.mit.edu 37 18 22023054 22023054 + Missense_Mutation SNP C C T rs141355151 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:22023054C>T ENST00000284202.4 + 7 673 c.532C>T c.(532-534)Cct>Tct p.P178S NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 178 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) TCATGGCATTCCTATTACAGA 0.348000 66 91 0 0 0.014410 0 0 OR51F2 119694 broad.mit.edu 37 11 4843021 4843021 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4843021C>T ENST00000322110.5 + 1 471 c.406C>T c.(406-408)Cgt>Tgt p.R136C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCCTTTGATCGTTTTGTGGC 0.463000 58 122 0 0 0.014410 0 0 OGFOD3 79701 broad.mit.edu 37 17 80373338 80373338 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:80373338G>A ENST00000313056.5 - 2 391 c.240C>T c.(238-240)gtC>gtT p.V80V OGFOD3_ENST00000329197.5_Silent_p.V80V NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 TCCCTGCCACGACCTCGCCAC 0.622000 44 160 0 0 0.014410 0 0 OR51S1 119692 broad.mit.edu 37 11 4869859 4869859 + Missense_Mutation SNP G G A rs142743963 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4869859G>A ENST00000322101.2 - 1 655 c.580C>T c.(580-582)Cgt>Tgt p.R194C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R194C(2) 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) CAGGCCAAACGAGCCACATCT 0.552000 28 54 0 0 0.009535 0 0 SVEP1 79987 broad.mit.edu 37 9 113168712 113168712 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113168712G>A ENST00000401783.2 - 38 9504 c.9168C>T c.(9166-9168)ttC>ttT p.F3056F SVEP1_ENST00000297826.5_Silent_p.F982F|SVEP1_ENST00000374469.1_Silent_p.F3033F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3056 Sushi 27. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CACAGTGGGGGAACCCAGAGC 0.488000 28 78 0 0 0.007291 0 0 PCDH19 57526 broad.mit.edu 37 X 99597041 99597041 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:99597041C>T ENST00000373034.4 - 5 4383 c.2708G>A c.(2707-2709)aGc>aAc p.S903N PCDH19_ENST00000420881.2_Missense_Mutation_p.S855N|PCDH19_ENST00000255531.7_Missense_Mutation_p.S856N NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 903 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 ATCCTTCAGGCTGTTGCCCTC 0.468000 48 76 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237791158 237791158 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:237791158C>T ENST00000366574.2 + 41 6535 c.6218C>T c.(6217-6219)tCt>tTt p.S2073F RYR2_ENST00000360064.6_Missense_Mutation_p.S2071F|RYR2_ENST00000542537.1_Missense_Mutation_p.S2057F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2073 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTCAGGAGTCTGTCATTGAA 0.493000 11 23 0 0 0.008291 0 0 ANKRD12 23253 broad.mit.edu 37 18 9211730 9211730 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:9211730A>G ENST00000383440.2 + 5 788 c.531A>G c.(529-531)caA>caG p.Q177Q ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Silent_p.Q200Q|ANKRD12_ENST00000400020.3_Silent_p.Q177Q NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 200 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATGTGAAACAAGTTAAAGAAT 0.343000 19 33 0 0 0.014323 0 0 ELK4 2005 broad.mit.edu 37 1 205589679 205589679 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:205589679C>T ENST00000357992.4 - 3 834 c.495G>A c.(493-495)ttG>ttA p.L165L ELK4_ENST00000289703.4_Silent_p.L165L NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CAGTCTTTATCAATTTGAAAA 0.423000 T SLC45A3 prostate 39 72 0 0 0.006999 0 0 PLXNA4 91584 broad.mit.edu 37 7 132169627 132169627 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:132169627C>T ENST00000378539.5 - 5 1893 c.1517G>A c.(1516-1518)aGa>aAa p.R506K PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000321063.4_Intron NM_181775.3 NP_861440.2 Q9HCM2 PLXA4_HUMAN plexin A4 0 Sema. 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 AGGCTGGACTCTCTGATCTGA 0.418000 51 95 0 0 0.014410 0 0 TENM3 55714 broad.mit.edu 37 4 183673086 183673086 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:183673086G>A ENST00000511685.1 + 20 3886 c.3763G>A c.(3763-3765)Gaa>Aaa p.E1255K TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.E1255K teneurin transmembrane protein 3 TAAAAATGCAGAAGTCGTCGC 0.537000 16 68 0 0 0.003163 0 0 ABCA6 23460 broad.mit.edu 37 17 67101643 67101643 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:67101643G>A ENST00000284425.2 - 20 2874 c.2700C>T c.(2698-2700)ccC>ccT p.P900P NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 900 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GGGGTTCCTGGGGAAGTTGTC 0.318000 7 24 0 0 0.006214 0 0 IARS 3376 broad.mit.edu 37 9 95027254 95027254 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:95027254G>A ENST00000375643.3 - 16 1923 c.1657C>T c.(1657-1659)Cct>Tct p.P553S IARS_ENST00000447699.2_Missense_Mutation_p.P443S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.P553S NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 553 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) AAATCTGCAGGAAAAGCATCC 0.433000 14 36 0 0 0.003163 0 0 SHANK1 50944 broad.mit.edu 37 19 51215336 51215336 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51215336C>T ENST00000293441.1 - 6 846 c.828G>A c.(826-828)aaG>aaA p.K276K SHANK1_ENST00000391814.1_Silent_p.K276K|SHANK1_ENST00000359082.3_Silent_p.K276K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 276 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) CCCGACGGTCCTTGTAGTTGG 0.592000 39 68 0 0 0.007835 0 0 CTSL 1514 broad.mit.edu 37 9 90343257 90343257 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:90343257C>T ENST00000343150.5 + 4 1232 c.342C>T c.(340-342)gcC>gcT p.A114A CTSL_ENST00000340342.6_Silent_p.A114A|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.A114A cathepsin L TTTATGAGGCCCCCAGATCTG 0.502000 32 94 0 0 0.013726 0 0 COL4A4 1286 broad.mit.edu 37 2 227946830 227946830 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:227946830C>T ENST00000396625.3 - 23 1904 c.e23+1 COL4A4_ENST00000329662.7_Splice_Site NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 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) ATTATGCTCACCTTTAACTCT 0.423000 45 123 0 0 0.011902 0 0 ABCC6 368 broad.mit.edu 37 16 16269830 16269830 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:16269830C>T ENST00000205557.7 - 20 2633 c.2604G>A c.(2602-2604)ggG>ggA p.G868G NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 868 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) TGGTGCTGGTCCCAGGTTCTG 0.592000 38 79 0 0 0.008740 0 0 FMO1 2326 broad.mit.edu 37 1 171254340 171254340 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:171254340G>A ENST00000354841.4 + 8 1387 c.e8-1 FMO1_ENST00000402921.2_Splice_Site|FMO1_ENST00000469112.1_Splice_Site|FMO1_ENST00000367750.3_Splice_Site Q01740 FMO1_HUMAN flavin containing monooxygenase 1 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTTTATAAAGGTTTGGCTTG 0.368000 24 69 0 0 0.002780 0 0 LECT1 11061 broad.mit.edu 37 13 53307459 53307459 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:53307459C>T ENST00000448904.2 - 3 359 c.249G>A c.(247-249)ggG>ggA p.G83G LECT1_ENST00000377962.3_Silent_p.G83G NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 83 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CTTGTAATTTCCCATTGATAC 0.378000 67 91 0 0 0.014410 0 0 BRINP3 339479 broad.mit.edu 37 1 190250853 190250853 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:190250853G>A ENST00000367462.3 - 3 495 c.264C>T c.(262-264)aaC>aaT p.N88N RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 88 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAACTGCAAGGTTATTTACTT 0.408000 8 22 0 0 0.008291 0 0 KALRN 8997 broad.mit.edu 37 3 124181391 124181391 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:124181391C>T ENST00000360013.3 + 25 4063 c.3936C>T c.(3934-3936)acC>acT p.T1312T KALRN_ENST00000460856.1_Silent_p.T1303T|KALRN_ENST00000240874.3_Silent_p.T1312T NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1312 DH 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 GGGAAATGACCAGTGGTGTGG 0.443000 21 30 0 0 0.014323 0 0 VPS52 6293 broad.mit.edu 37 6 33231636 33231636 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:33231636G>A ENST00000445902.2 - 16 1859 c.1641C>T c.(1639-1641)gtC>gtT p.V547V VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.V422V NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 547 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 CCACTCGGAGGACAAAATTCT 0.527000 27 69 0 0 0.003954 0 0 WDFY3 23001 broad.mit.edu 37 4 85645656 85645656 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:85645656G>A ENST00000322366.6 - 45 7720 c.7313C>T c.(7312-7314)gCc>gTc p.A2438V WDFY3_ENST00000295888.4_Missense_Mutation_p.A2455V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2455 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTCCACAATGGCGTCTTGGAC 0.463000 32 88 0 0 0.003755 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693132 187693132 + Missense_Mutation SNP G G A rs138793510 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:187693132G>A ENST00000295131.2 - 9 1520 c.1481C>T c.(1480-1482)cCc>cTc p.P494L NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 494 apoptosis zinc ion binding 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) AAGATACCTGGGAAAATGTTG 0.318000 9 31 0 0 0.006214 0 0 FHOD3 80206 broad.mit.edu 37 18 34182646 34182646 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:34182646C>T ENST00000257209.4 + 8 850 c.728C>T c.(727-729)cCt>cTt p.P243L FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.P243L|FHOD3_ENST00000445677.1_Missense_Mutation_p.P243L|FHOD3_ENST00000590592.1_Missense_Mutation_p.P243L NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 243 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GGGGTCAAACCTTGGTCAAAT 0.373000 54 39 0 0 0.014410 0 0 GHR 2690 broad.mit.edu 37 5 42718947 42718947 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:42718947C>T ENST00000230882.4 + 10 1528 c.1338C>T c.(1336-1338)ccC>ccT p.P446P GHR_ENST00000537449.1_Silent_p.P259P|GHR_ENST00000357703.3_Silent_p.P424P NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 446 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTCAGCAGCCCAGTGTTATCC 0.453000 19 50 0 0 0.007413 0 0 ZNF484 83744 broad.mit.edu 37 9 95610105 95610105 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:95610105G>A ENST00000395505.2 - 3 948 c.856C>T c.(856-858)Cct>Tct p.P286S ZNF484_ENST00000332591.6_Missense_Mutation_p.P286S|ZNF484_ENST00000375495.3_Missense_Mutation_p.P322S|ZNF484_ENST00000395506.3_Missense_Mutation_p.P324S|ANKRD19P_ENST00000473204.1_RNA NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 CCCTCATAAGGAGTTTTCTGA 0.423000 39 94 0 0 0.006999 0 0 HLA-B 3106 broad.mit.edu 37 6 31322439 31322439 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31322439C>G ENST00000412585.2 - 6 1044 c.1016G>C c.(1015-1017)gGa>gCa p.G339A NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CCCTCCTTTTCCACCTGTGGG 0.562000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 37 111 0 0 0.006999 0 0 GABRA6 2559 broad.mit.edu 37 5 161116026 161116026 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:161116026G>A ENST00000523217.1 + 4 509 c.267G>A c.(265-267)gaG>gaA p.E89E RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Silent_p.E99E NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 99 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGCCAACTGAGATTCTGAGTC 0.413000 TCGA Ovarian(5;0.080) 42 63 0 0 0.014410 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713587 70713587 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:70713587C>T ENST00000530196.1 - 0 931 NR_003951.1 GAAAACATTTCCTTGATTCCA 0.378000 31 91 0 0 0.007291 0 0 ITGA2 3673 broad.mit.edu 37 5 52344192 52344192 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:52344192G>A ENST00000296585.5 + 5 530 c.e5-1 NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTCTTTGAAGACATGTGGTC 0.418000 27 28 0 0 0.006320 0 0 CR1 1378 broad.mit.edu 37 1 207758173 207758173 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:207758173G>A ENST00000367049.4 + 33 5482 c.5482G>A c.(5482-5484)Ggg>Agg p.G1828R RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.G1378R|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.G1378R|CR1_ENST00000367051.1_Missense_Mutation_p.G1378R|CR1_ENST00000367052.1_Missense_Mutation_p.G1378R NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1378 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCATGGGAATGGGGTTTGGAG 0.517000 44 173 0 0 0.014410 0 0 WDR66 144406 broad.mit.edu 37 12 122361869 122361869 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:122361869G>A ENST00000288912.4 + 3 1574 c.720G>A c.(718-720)aaG>aaA p.K240K WDR66_ENST00000397454.2_Silent_p.K240K NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 240 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGTTTCAAAAGGATAAAAGCA 0.478000 43 110 0 0 0.014410 0 0 CAMLG 819 broad.mit.edu 37 5 134076939 134076939 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:134076939C>T ENST00000297156.2 + 2 479 c.359C>T c.(358-360)cCa>cTa p.P120L CAMLG_ENST00000514518.1_Intron NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 120 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) TTCATTAAACCACCTGAGTGC 0.572000 41 69 0 0 0.009718 0 0 VPS13D 55187 broad.mit.edu 37 1 12416001 12416001 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12416001C>T ENST00000358136.3 + 48 9855 c.9725C>T c.(9724-9726)cCa>cTa p.P3242L VPS13D_ENST00000356315.4_Missense_Mutation_p.P3217L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3241 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGCTCATTCCACCTGGAACC 0.443000 28 86 0 0 0.006320 0 0 CTRC 11330 broad.mit.edu 37 1 15771198 15771198 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:15771198G>A ENST00000375949.4 + 6 617 c.591G>A c.(589-591)aaG>aaA p.K197K CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C (caldecrin) 197 Peptidase S1. proteolysis serine-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 13 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGGGTGAAGAAAACCATGG 0.602000 32 82 0 0 0.013726 0 0 TUBG1 7283 broad.mit.edu 37 17 40766394 40766394 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:40766394C>T ENST00000251413.3 + 9 1022 c.960C>T c.(958-960)atC>atT p.I320I NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 320 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) ACATCGCCATCCTCAACATCA 0.627000 28 57 0 0 0.008361 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717586 142717586 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:142717586C>T ENST00000381779.4 - 2 1564 c.1339G>A c.(1339-1341)Ggt>Agt p.G447S SLITRK4_ENST00000338017.4_Missense_Mutation_p.G447S|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G447S 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 4 447 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) TTATGAAGACCTGAAAATATT 0.368000 43 60 0 0 0.007835 0 0 MRC2 9902 broad.mit.edu 37 17 60742190 60742190 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:60742190C>T ENST00000303375.5 + 2 802 c.400C>T c.(400-402)Ctg>Ttg p.L134L NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 134 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GTCCTTGCTCCTGGGGGCCCG 0.622000 38 100 0 0 0.004878 0 0 IRX2 153572 broad.mit.edu 37 5 2749165 2749165 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:2749165C>T ENST00000382611.6 - 3 905 c.655_splice c.e3-1 p.G219_splice IRX2_ENST00000302057.5_Splice_Site_p.G219_splice|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 219 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) GCAGGCTGATCCCTGTGGGGG 0.741000 11 32 0 0 0.010729 0 0 WDR64 128025 broad.mit.edu 37 1 241886654 241886654 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:241886654G>A ENST00000366552.2 + 9 1287 c.1080G>A c.(1078-1080)ggG>ggA p.G360G WDR64_ENST00000437684.2_Silent_p.G360G NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 360 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AGCCAGTAGGGAAACTTGTAG 0.448000 24 55 0 0 0.003954 0 0 C10orf2 56652 broad.mit.edu 37 10 102749036 102749036 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:102749036C>T ENST00000370228.1 + 1 1254 c.1069C>T c.(1069-1071)Cgt>Tgt p.R357C C10orf2_ENST00000473656.1_Intron|C10orf2_ENST00000311916.2_Missense_Mutation_p.R357C NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 357 R -> P (in PEOA3). 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) TCGTATTCTTCGTACCGCCCT 0.567000 56 71 0 0 0.014410 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461381 5461381 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:5461381C>T ENST00000296564.7 + 13 2156 c.1934C>T c.(1933-1935)cCc>cTc p.P645L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 645 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GGCAGTAATCCCCAGTCTTCT 0.398000 39 98 0 0 0.008740 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215606 20215606 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20215606C>T ENST00000331723.1 + 1 20 c.20C>T c.(19-21)tCt>tTt p.S7F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAACAAGATTCTAATGTGACA 0.333000 12 45 0 0 0.001855 0 0 CTSG 1511 broad.mit.edu 37 14 25044536 25044536 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:25044536C>T ENST00000216336.2 - 2 174 c.138G>A c.(136-138)caG>caA p.Q46Q NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 46 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CACATCTGCTCTGACCTGCTG 0.587000 55 170 0 0 0.014410 0 0 INTS1 26173 broad.mit.edu 37 7 1511998 1511998 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:1511998G>A ENST00000389470.4 - 45 6706 c.6707C>T c.(6706-6708)cCc>cTc p.P2236L INTS1_ENST00000404767.3_Missense_Mutation_p.P2032L Q8N201 INT1_HUMAN integrator complex subunit 1 2032 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GCTGACCAGGGGCAAGGAGCC 0.672000 3 10 0 0 0.004672 0 0 NYAP2 57624 broad.mit.edu 37 2 226447029 226447029 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:226447029C>T ENST00000272907.6 + 4 1309 c.896C>T c.(895-897)cCc>cTc p.P299L NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 299 TGTGCTACTCCCACGGTGCCT 0.577000 41 96 0 0 0.008740 0 0 FLG2 388698 broad.mit.edu 37 1 152326553 152326553 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152326553C>T ENST00000388718.5 - 3 3781 c.3709G>A c.(3709-3711)Gaa>Aaa p.E1237K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1237 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTAGTTTCCTGTCTCCCA 0.478000 80 157 0 0 0.014410 0 0 ZNF236 7776 broad.mit.edu 37 18 74659504 74659504 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:74659504G>A ENST00000253159.8 + 27 5002 c.4804G>A c.(4804-4806)Gat>Aat p.D1602N ZNF236_ENST00000320610.9_Missense_Mutation_p.D1604N NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1602 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GCTCCTCACGGATCCCTCTCT 0.478000 72 70 0 0 0.014410 0 0 PAPPA 5069 broad.mit.edu 37 9 118997908 118997908 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:118997908C>T ENST00000328252.3 + 7 3093 c.2724C>T c.(2722-2724)ttC>ttT p.F908F PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 908 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 ATAGGAAATTCGTAGACATGT 0.517000 37 90 0 0 0.004289 0 0 MYO3B 140469 broad.mit.edu 37 2 171056708 171056708 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:171056708C>T ENST00000334231.6 + 3 262 c.262C>T c.(262-264)Cct>Tct p.P88S MYO3B_ENST00000409044.3_Missense_Mutation_p.P79S|MYO3B_ENST00000408978.4_Missense_Mutation_p.P79S|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 79 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCAGTTCCTTCCTAATCATCC 0.423000 16 51 0 0 0.004007 0 0 PARP4 143 broad.mit.edu 37 13 25049660 25049660 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:25049660G>A ENST00000381989.3 - 15 1969 c.1864C>T c.(1864-1866)Cct>Tct p.P622S NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 622 VIT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TCCTCCAGAGGAACCAAGTTC 0.448000 58 82 0 0 0.014410 0 0 OSBPL11 114885 broad.mit.edu 37 3 125298879 125298879 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:125298879A>G ENST00000296220.5 - 3 528 c.239T>C c.(238-240)tTt>tCt p.F80S NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 80 PH. lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 GTTTAAAACAAAAAACCTGTA 0.343000 46 55 0 0 0.013114 0 0 FAM126B 285172 broad.mit.edu 37 2 201846418 201846418 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:201846418C>T ENST00000418596.2 - 12 1355 c.1168G>A c.(1168-1170)Gcc>Acc p.A390T AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 390 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 ATGGCAGAGGCTGTTTCTTTA 0.488000 20 59 0 0 0.010504 0 0 TCOF1 6949 broad.mit.edu 37 5 149775884 149775884 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:149775884C>T ENST00000451292.1 + 25 4040 c.3932C>T c.(3931-3933)tCc>tTc p.S1311F TCOF1_ENST00000504761.2_Missense_Mutation_p.S1274F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S1197F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1275F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1237F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1198F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1274F Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1274 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTCAGAAGTCCCGGAAGCCC 0.582000 50 80 0 0 0.014410 0 0 SNUPN 10073 broad.mit.edu 37 15 75890763 75890763 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:75890763G>A ENST00000371091.5 - 10 1597 c.1145C>T c.(1144-1146)tCt>tTt p.S382F SNUPN_ENST00000564675.1_Missense_Mutation_p.S340F|SNUPN_ENST00000567134.1_Missense_Mutation_p.S340F|SNUPN_ENST00000308588.5_Missense_Mutation_p.S340F|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000564644.1_Missense_Mutation_p.S340F O95149 SPN1_HUMAN snurportin 1 340 ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 CTTGGGAGTAGACAGGTGCTC 0.502000 43 113 0 0 0.010771 0 0 IFNA6 3443 broad.mit.edu 37 9 21350614 21350614 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:21350614G>A ENST00000380210.1 - 1 763 c.273C>T c.(271-273)ttC>ttT p.F91F NM_021002.2 NP_066282.1 P05013 IFNA6_HUMAN interferon, alpha 6 91 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding large_intestine(3)|lung(7)|skin(1) 11 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CCTTTGTGCTGAAGAGGTTGA 0.488000 36 115 0 0 0.003755 0 0 GLI2 2736 broad.mit.edu 37 2 121746042 121746042 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:121746042C>T ENST00000452319.1 + 14 2612 c.2552C>T c.(2551-2553)tCc>tTc p.S851F GLI2_ENST00000314490.11_Missense_Mutation_p.S523F|GLI2_ENST00000361492.4_Missense_Mutation_p.S851F P10070 GLI2_HUMAN GLI family zinc finger 2 851 Ser-rich. 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) AACGCGAGCTCCGCTGACTCC 0.751000 9 15 0 0 0.006214 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1338079 1338079 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:1338079G>A ENST00000320895.5 - 5 875 c.618C>T c.(616-618)acC>acT p.T206T CLPTM1L_ENST00000507807.1_Silent_p.T73T|CLPTM1L_ENST00000320927.6_Silent_p.T206T NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 206 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GGTAATGCACGGTTTTCCCCA 0.522000 10 31 0 0 0.013537 0 0 IL23R 149233 broad.mit.edu 37 1 67666433 67666433 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:67666433G>A ENST00000347310.5 + 5 676 c.505G>A c.(505-507)Gaa>Aaa p.E169K C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.E169K NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 169 Fibronectin type-III 1. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 AGAGACAGAAGAAGAGCAACA 0.383000 27 115 0 0 0.007291 0 0 LPCAT4 254531 broad.mit.edu 37 15 34652410 34652410 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:34652410C>T ENST00000314891.6 - 12 1321 c.1143_splice c.e12-1 p.D382_splice NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 382 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CCCTTGGTATCCTGGTGTGAA 0.557000 33 78 0 0 0.012213 0 0 COL21A1 81578 broad.mit.edu 37 6 55924020 55924020 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:55924020C>T ENST00000244728.5 - 29 3026 c.2629G>A c.(2629-2631)Gaa>Aaa p.E877K COL21A1_ENST00000535941.1_Missense_Mutation_p.E877K|COL21A1_ENST00000370819.1_Missense_Mutation_p.E874K|COL21A1_ENST00000370808.2_Missense_Mutation_p.E243K|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 877 Collagen-like 6. cell adhesion collagen|cytoplasm structural molecule activity p.E877K(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CTCCCTTTTTCCCCATTTCTT 0.448000 6 13 0 0 0.003080 0 0 MYOC 4653 broad.mit.edu 37 1 171605543 171605543 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:171605543C>T ENST00000037502.5 - 3 1096 c.1037G>A c.(1036-1038)aGa>aAa p.R346K NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 346 Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CAGCTCATATCTTATGACAGT 0.532000 68 77 0 0 0.014410 0 0 NTN4 59277 broad.mit.edu 37 12 96181211 96181211 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:96181211C>T ENST00000343702.4 - 2 539 c.91G>A c.(91-93)Gaa>Aaa p.E31K NTN4_ENST00000538383.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.E31K|NTN4_ENST00000344911.4_5'UTR NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 31 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CAGGCTTTTTCACAGCGGGAA 0.512000 33 103 0 0 0.003755 0 0 TTC3 7267 broad.mit.edu 37 21 38524310 38524310 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:38524310C>T ENST00000399017.2 + 26 5141 c.2394C>T c.(2392-2394)ccC>ccT p.P798P TTC3_ENST00000355666.1_Silent_p.P798P|TTC3_ENST00000540756.1_Silent_p.P488P|TTC3_ENST00000354749.2_Silent_p.P798P|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 798 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GTAATCCACCCAAAAATGAAG 0.323000 54 173 0 0 0.014410 0 0 ACSS2 55902 broad.mit.edu 37 20 33513985 33513985 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:33513985C>T ENST00000360596.2 + 16 2015 c.1804C>T c.(1804-1806)Cac>Tac p.H602Y ACSS2_ENST00000253382.5_Missense_Mutation_p.H615Y|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.H552Y NM_018677.3 NP_061147.1 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 602 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9) 21 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTGGTGGGCCACCCTCATCC 0.562000 38 101 0 0 0.004878 0 0 SLC27A3 11000 broad.mit.edu 37 1 153750724 153750724 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:153750724G>A ENST00000271857.2 + 5 2393 c.1633G>A c.(1633-1635)Ggg>Agg p.G545R SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G464R Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 464 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCGGCGCTTCGGGCCCCTGCA 0.642000 54 168 0 0 0.014410 0 0 IVD 3712 broad.mit.edu 37 15 40710429 40710429 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:40710429C>T ENST00000249760.2 + 12 1582 c.1239C>T c.(1237-1239)gtC>gtT p.V413V IVD_ENST00000479013.2_Silent_p.V386V|IVD_ENST00000487418.2_Silent_p.V416V NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 413 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GGCGGCTGGTCATCGGCAGAG 0.562000 45 138 0 0 0.014410 0 0 EMR1 2015 broad.mit.edu 37 19 6896522 6896522 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:6896522C>T ENST00000312053.4 + 3 245 c.208C>T c.(208-210)Cac>Tac p.H70Y EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Missense_Mutation_p.H70Y|EMR1_ENST00000381404.4_Missense_Mutation_p.H70Y|EMR1_ENST00000381407.5_Missense_Mutation_p.H70Y|EMR1_ENST00000250572.8_Missense_Mutation_p.H70Y NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 70 EGF-like 1. 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) TGGGCAAAATCACTTCAAGGA 0.483000 29 66 0 0 0.006320 0 0 DSG4 147409 broad.mit.edu 37 18 28993089 28993089 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:28993089C>T ENST00000359747.4 + 15 2740 c.2711C>T c.(2710-2712)cCc>cTc p.P904L RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P885L|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 885 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGATTGACTCCCTCAGAAGTT 0.433000 93 129 0 0 0.014410 0 0 SEMA4D 10507 broad.mit.edu 37 9 91993723 91993723 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:91993723C>T ENST00000450295.1 - 16 3261 c.2485G>A c.(2485-2487)Gat>Aat p.D829N SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.D829N|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.D829N|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D829N Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 829 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TCCTCCCTATCCGTGGGGACT 0.587000 37 109 0 0 0.003755 0 0 DSP 1832 broad.mit.edu 37 6 7585285 7585285 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:7585285C>T ENST00000379802.3 + 24 8131 c.7790C>T c.(7789-7791)tCc>tTc p.S2597F DSP_ENST00000418664.2_Missense_Mutation_p.S1998F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2597 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCACCATATCCAGCGTCAGG 0.473000 43 135 0 0 0.007835 0 0 OR11L1 391189 broad.mit.edu 37 1 248004720 248004720 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248004720G>A ENST00000355784.2 - 1 534 c.479C>T c.(478-480)tCc>tTc p.S160F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 160 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) AATCATCAGGGAAGGCAGAAA 0.562000 40 129 0 0 0.009718 0 0 COL4A2 1284 broad.mit.edu 37 13 111138100 111138100 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:111138100C>G ENST00000360467.5 + 34 3430 c.3124C>G c.(3124-3126)Ccc>Gcc p.P1042A NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1042 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) CATCGGAGTCCCCGGCATCCC 0.617000 73 59 0 0 0.014410 0 0 NANOS1 340719 broad.mit.edu 37 10 120789672 120789672 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:120789672G>A ENST00000425699.1 + 1 445 c.359G>A c.(358-360)gGc>gAc p.G120D NM_199461.2 NP_955631.1 Q8WY41 NANO1_HUMAN nanos homolog 1 (Drosophila) 120 epithelial cell migration perinuclear region of cytoplasm protein binding|RNA binding|translation repressor activity|zinc ion binding lung(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0193) gggtcccggggccgcTACCTG 0.791000 3 4 0 0 0.009096 0 0 MYOM2 9172 broad.mit.edu 37 8 2088741 2088741 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:2088741G>A ENST00000262113.4 + 33 4037 c.3896G>A c.(3895-3897)gGa>gAa p.G1299E MYOM2_ENST00000523438.1_Missense_Mutation_p.G724E|MYOM2_ENST00000520298.1_3'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1299 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) AAGGATAAAGGAAAATACACT 0.428000 19 122 0 0 0.007413 0 0 CDH26 60437 broad.mit.edu 37 20 58564175 58564175 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:58564175C>T ENST00000348616.4 + 9 1540 c.1240C>T c.(1240-1242)Ctg>Ttg p.L414L CDH26_ENST00000244047.5_Silent_p.L414L NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 414 Cadherin 4. 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) GCCTGGGACCCTGTTGGGAAC 0.537000 182 480 0 0 0.014410 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19716332 19716332 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:19716332C>T ENST00000284885.3 - 11 1250 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 406 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AAGCCCCACTCGTTCTTGTCT 0.383000 67 165 0 0 0.014410 0 0 HYAL4 23553 broad.mit.edu 37 7 123508613 123508613 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:123508613G>A ENST00000223026.4 + 3 924 c.286G>A c.(286-288)Gga>Aga p.G96R HYAL4_ENST00000476325.1_Missense_Mutation_p.G96R NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 96 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CAACAGATTGGGATACTATCC 0.398000 38 90 0 0 0.008740 0 0 COL4A4 1286 broad.mit.edu 37 2 227875143 227875143 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:227875143G>A ENST00000396625.3 - 46 4615 c.4408C>T c.(4408-4410)Ctc>Ttc p.L1470F COL4A4_ENST00000329662.7_Missense_Mutation_p.L1467F NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1470 Collagen IV NC1. 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) TGACTGTGGAGAACCAGGAGG 0.577000 36 64 0 0 0.003271 0 0 SPP2 6694 broad.mit.edu 37 2 234959619 234959619 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:234959619C>T ENST00000168148.3 + 2 178 c.90C>T c.(88-90)ttC>ttT p.F30F SPP2_ENST00000373368.1_Silent_p.F30F|SPP2_ENST00000492481.1_3'UTR NM_006944.2 NP_008875.1 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa 30 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) GTCCAGGTTTCCCAGTGTACG 0.542000 11 36 0 0 0.010729 0 0 EDARADD 128178 broad.mit.edu 37 1 236645580 236645580 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:236645580C>T ENST00000359362.5 + 6 463 c.249C>T c.(247-249)gaC>gaT p.D83D EDARADD_ENST00000334232.4_Silent_p.D93D NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 93 cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TCAGCAAGGACAACTCCTGCA 0.448000 16 131 0 0 0.006122 0 0 C6orf222 389384 broad.mit.edu 37 6 36298396 36298396 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:36298396G>A ENST00000437635.2 - 2 249 c.72C>T c.(70-72)gcC>gcT p.A24A NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 24 p.A24A(1) breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CTTTCCCGGGGGCCTGCGGCC 0.642000 50 139 0 0 0.014410 0 0 UTRN 7402 broad.mit.edu 37 6 144843240 144843240 + Missense_Mutation SNP C C T rs144099534 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:144843240C>T ENST00000367545.3 + 39 5666 c.5666C>T c.(5665-5667)tCg>tTg p.S1889L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1889 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GTTGAATTATCGCTTAATGTT 0.393000 46 64 0 0 0.014410 0 0 KCNK5 8645 broad.mit.edu 37 6 39159100 39159100 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:39159100C>T ENST00000359534.3 - 5 1404 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 356 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GACACCTCTTCCAAGGTGGGC 0.667000 28 85 0 0 0.005443 0 0 PCNXL2 80003 broad.mit.edu 37 1 233160912 233160912 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:233160912G>A ENST00000258229.8 - 26 4819 c.4585C>T c.(4585-4587)Ctc>Ttc p.L1529F PCNXL2_ENST00000344698.2_Missense_Mutation_p.L181F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1529 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TAGCGGATGAGGATCCTTCGG 0.532000 27 117 0 0 0.007291 0 0 MYOM2 9172 broad.mit.edu 37 8 2044132 2044132 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:2044132G>A ENST00000262113.4 + 18 2312 c.2171G>A c.(2170-2172)gGc>gAc p.G724D MYOM2_ENST00000523438.1_Missense_Mutation_p.G149D NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 724 Fibronectin type-III 4. 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) AACTGTGACGGCCACTCCATG 0.577000 71 139 0 0 0.014410 0 0 LIPG 9388 broad.mit.edu 37 18 47088769 47088769 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:47088769C>T ENST00000261292.4 + 1 369 c.91C>T c.(91-93)Ctg>Ttg p.L31L LIPG_ENST00000580036.1_Silent_p.L31L|LIPG_ENST00000427224.2_Silent_p.L31L|LIPG_ENST00000577628.1_Intron NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 31 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 AGAGGGACGGCTGGAAGGTAA 0.542000 45 54 0 0 0.011902 0 0 ABCC9 10060 broad.mit.edu 37 12 21997802 21997802 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21997802G>A ENST00000261200.4 - 25 3143 c.3144C>T c.(3142-3144)ttC>ttT p.F1048F ABCC9_ENST00000345162.2_Silent_p.F1012F|ABCC9_ENST00000261201.4_Silent_p.F1048F|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1048 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAAGGCAAAGGAAAATGCCTG 0.408000 10 40 0 0 0.006214 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22780192 22780192 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22780192C>T ENST00000600260.1 + 0 270 NR_033899.1 GGTTGCCACTCACCTGGAGAT 0.517000 28 114 0 0 0.007291 0 0 ERMP1 79956 broad.mit.edu 37 9 5805111 5805111 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:5805111G>A ENST00000339450.5 - 10 1919 c.1830C>T c.(1828-1830)ctC>ctT p.L610L ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Silent_p.L188L NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 610 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CACTTCTCCCGAGGATAGGGG 0.393000 19 59 0 0 0.007413 0 0 TPTE 7179 broad.mit.edu 37 21 10944679 10944679 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:10944679C>T ENST00000298232.7 - 10 868 c.501G>A c.(499-501)agG>agA p.R167R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.R147R|TPTE_ENST00000361285.4_Silent_p.R185R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 185 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGGAATATTCCTAAGCAACT 0.284000 28 198 0 0 0.005443 0 0 FAM47B 170062 broad.mit.edu 37 X 34961495 34961495 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:34961495C>T ENST00000329357.5 + 1 583 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 183 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 TGGTAAATATCCCTGTGGGGA 0.642000 26 51 0 0 0.004656 0 0 ATP8B4 79895 broad.mit.edu 37 15 50190413 50190413 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:50190413G>A ENST00000284509.6 - 22 2466 c.2325C>T c.(2323-2325)ctC>ctT p.L775L ATP8B4_ENST00000559829.1_Silent_p.L775L NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 775 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CAAGTTCTAGGAGATCATTCT 0.403000 8 35 0 0 0.003080 0 0 RYR3 6263 broad.mit.edu 37 15 34137075 34137075 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:34137075C>T ENST00000389232.4 + 93 13379 c.13309C>T c.(13309-13311)Cct>Tct p.P4437S RYR3_ENST00000415757.3_Missense_Mutation_p.P4432S NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4437 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CACTGAAGAACCTTTAGAAGA 0.413000 10 28 0 0 0.008291 0 0 KSR1 8844 broad.mit.edu 37 17 25932559 25932559 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:25932559C>T ENST00000398988.3 + 16 1814 c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C KSR1_ENST00000509603.2_Missense_Mutation_p.R572C|KSR1_ENST00000319524.6_Missense_Mutation_p.R594C|KSR1_ENST00000268763.6_Missense_Mutation_p.R457C NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 592 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCCCATCTCTCGCAAGGCCAG 0.687000 7 11 0 0 0.001984 0 0 DIP2A 23181 broad.mit.edu 37 21 47961709 47961709 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47961709C>T ENST00000318711.7 + 18 2263 c.2080C>T c.(2080-2082)Ctg>Ttg p.L694L DIP2A_ENST00000427143.2_Silent_p.L629L|DIP2A_ENST00000466639.1_Silent_p.L650L|DIP2A_ENST00000417564.2_Silent_p.L693L|DIP2A_ENST00000400274.1_Silent_p.L689L|DIP2A_ENST00000457905.3_Silent_p.L693L|DIP2A_ENST00000435722.3_Silent_p.L693L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 693 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AAAAGCAGTCCTGTCGATGAA 0.488000 33 83 0 0 0.003271 0 0 LHCGR 3973 broad.mit.edu 37 2 48936102 48936102 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:48936102G>A ENST00000294954.7 - 8 686 c.665C>T c.(664-666)aCa>aTa p.T222I LHCGR_ENST00000403273.1_Missense_Mutation_p.T222I|LHCGR_ENST00000401907.1_Missense_Mutation_p.T222I|LHCGR_ENST00000405626.1_Missense_Mutation_p.T222I|LHCGR_ENST00000344775.3_Missense_Mutation_p.T222I|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 222 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TTTCGGCCCTGTGGCCCCACG 0.552000 39 127 0 0 0.013114 0 0 MUC16 94025 broad.mit.edu 37 19 9067599 9067599 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9067599G>A ENST00000397910.4 - 3 20050 c.19847C>T c.(19846-19848)cCa>cTa p.P6616L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6618 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 GACTTTGGGTGGTTCTGAGTA 0.453000 66 142 0 0 0.014410 0 0 TSIX 9383 broad.mit.edu 37 X 73046874 73046874 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:73046874C>T ENST00000604411.1 + 0 34835 XIST_ENST00000429829.1_lincRNA NR_003255.2 GGAACATGGGCTTTCCATCTT 0.488000 36 46 0 0 0.003271 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564245 140564245 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140564245C>T ENST00000361016.2 + 1 3266 c.2111C>T c.(2110-2112)tCg>tTg p.S704L NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 704 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCTTTTCGGTGCTCCTG 0.697000 108 165 0 0 0.014410 0 0 PLIN5 440503 broad.mit.edu 37 19 4523782 4523782 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:4523782C>T ENST00000381848.3 - 8 1230 c.1150G>A c.(1150-1152)Gag>Aag p.E384K NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 384 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 TCGGGTCGCTCCACAAGGATG 0.746000 20 64 0 0 0.008871 0 0 ZNF425 155054 broad.mit.edu 37 7 148802413 148802413 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:148802413G>A ENST00000378061.2 - 4 682 c.550C>T c.(550-552)Ccc>Tcc p.P184S NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 184 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) GGCCCTGTGGGAATTTCTAAG 0.478000 35 97 0 0 0.012213 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143253 91143253 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:91143253G>A ENST00000371809.3 + 2 263 c.183G>A c.(181-183)gtG>gtA p.V61V LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 61 binding endometrium(2)|large_intestine(3)|lung(8) 13 TAGCCTATGTGAAACACCTGA 0.428000 49 58 0 0 0.014410 0 0 BTNL2 56244 broad.mit.edu 37 6 32372842 32372842 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32372842C>T ENST00000454136.3 - 2 305 c.301G>A c.(301-303)Ggc>Agc p.G101S BTNL2_ENST00000374995.3_Missense_Mutation_p.G101S|BTNL2_ENST00000429232.2_Missense_Mutation_p.G101S|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.G101S Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 101 Ig-like V-type 1. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 TTTGCAATGCCATTCTCTATC 0.517000 93 244 0 0 0.014410 0 0 SORCS1 114815 broad.mit.edu 37 10 108338907 108338907 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:108338907C>T ENST00000344440.6 - 26 3473 c.3474G>A c.(3472-3474)caG>caA p.Q1158Q SORCS1_ENST00000263054.6_Intron|SORCS1_ENST00000369698.1_Silent_p.Q693Q NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1 NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TTAGTTCAGTCTGAGGGACAT 0.493000 36 59 0 0 0.003271 0 0 CC2D1A 54862 broad.mit.edu 37 19 14020719 14020719 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:14020719C>T ENST00000318003.7 + 2 385 c.144C>T c.(142-144)ttC>ttT p.F48F CC2D1A_ENST00000589606.1_Silent_p.F48F NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 48 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AGGCTGAGTTCTTGGCTTTGG 0.567000 45 68 0 0 0.013114 0 0 OR2A25 392138 broad.mit.edu 37 7 143771752 143771752 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:143771752C>T ENST00000408898.2 + 1 478 c.440C>T c.(439-441)tCc>tTc p.S147F NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) GCATTGACTTCCTGGATTTTA 0.463000 72 163 0 0 0.014410 0 0 SLC12A1 6557 broad.mit.edu 37 15 48537004 48537004 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:48537004G>A ENST00000396577.3 + 11 1570 c.1355G>A c.(1354-1356)gGg>gAg p.G452E SLC12A1_ENST00000380993.3_Missense_Mutation_p.G452E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G452E NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 452 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) ATCATTTCTGGGATGAACTGC 0.478000 16 52 0 0 0.004007 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870393 51870393 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:51870393C>T ENST00000371497.5 + 2 1283 c.396C>T c.(394-396)atC>atT p.I132I TSHZ2_ENST00000603338.2_Silent_p.I129I|TSHZ2_ENST00000329613.6_Silent_p.I129I NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 132 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACGCCAACATCCTGTCGGATT 0.522000 34 91 0 0 0.003271 0 0 OR2T3 343173 broad.mit.edu 37 1 248637182 248637182 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248637182G>A ENST00000359594.2 + 1 556 c.531G>A c.(529-531)agG>agA p.R177R NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 177 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) GCCAGTCTAGGAAAATCCTGA 0.527000 32 97 0 0 0.013726 0 0 TTN 7273 broad.mit.edu 37 2 179514906 179514906 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179514906C>T ENST00000589042.1 - 210 40026 c.39802G>A c.(39802-39804)Gtt>Att p.V13268I TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V11761I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V10834I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11616 Ig-like 88. 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) GGAGGTGGAACCTCTGGTTCC 0.408000 4 3 0 0 0.000602 0 0 CNOT2 4848 broad.mit.edu 37 12 70704717 70704717 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:70704717G>A ENST00000229195.3 + 3 670 c.91G>A c.(91-93)Gag>Aag p.E31K CNOT2_ENST00000418359.3_Missense_Mutation_p.E31K NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 31 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GAAGTTTGTAGAGGGGGTCGA 0.368000 19 57 0 0 0.007413 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058510 152058510 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152058510G>A ENST00000368806.1 - 3 1712 c.1648C>T c.(1648-1650)Ccc>Tcc p.P550S NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 550 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AGGCTGTTGGGAGTTTCAGAA 0.552000 88 142 0 0 0.014410 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600110 28600110 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:28600110C>T ENST00000568624.1 - 0 384 ACCTCTAGCTCCCTCCTTAGG 0.512000 11 70 0 0 0.013537 0 0 SLC44A5 204962 broad.mit.edu 37 1 75672358 75672358 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:75672358G>A ENST00000370855.5 - 24 2207 c.2094C>T c.(2092-2094)ttC>ttT p.F698F SLC44A5_ENST00000535611.1_Silent_p.F568F|SLC44A5_ENST00000370859.3_Intron NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 698 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 TAGGGGTTACGAAGTAGGGTT 0.413000 29 53 0 0 0.003271 0 0 CDH8 1006 broad.mit.edu 37 16 61761118 61761118 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:61761118C>T ENST00000577390.1 - 9 2370 c.1414_splice c.e9-1 p.R472_splice CDH8_ENST00000299345.6_Splice_Site_p.R472_splice|CDH8_ENST00000577730.1_Splice_Site_p.R472_splice|CDH8_ENST00000584337.1_Splice_Site_p.R472_splice NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 472 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GACTGTGGTTCCCTATGGGAA 0.413000 12 43 0 0 0.013537 0 0 C3orf56 285311 broad.mit.edu 37 3 126915579 126915579 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:126915579C>T ENST00000398112.1 + 2 291 c.51C>T c.(49-51)gcC>gcT p.A17A NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) TCCGCCGTGCCTTCGAGGCCT 0.607000 9 29 0 0 0.006214 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119120848 119120848 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:119120848C>T ENST00000264245.4 + 10 1781 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 417 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 GAGCAGTGATCGCAGCCATCT 0.647000 33 139 0 0 0.010818 0 0 LRP1B 53353 broad.mit.edu 37 2 141459349 141459349 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141459349C>T ENST00000389484.3 - 40 7339 c.6368G>A c.(6367-6369)aGa>aAa p.R2123K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2123 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) AAGGCCGGTTCTCATGGTTAT 0.403000 TSP Lung(27;0.18) 18 45 0 0 0.006122 0 0 L1TD1 54596 broad.mit.edu 37 1 62672511 62672511 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:62672511G>A ENST00000498273.1 + 3 506 c.211G>A c.(211-213)Gaa>Aaa p.E71K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 71 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 ggagatgagggaaactcttaa 0.373000 14 44 0 0 0.001855 0 0 LIPC 3990 broad.mit.edu 37 15 58830616 58830616 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:58830616C>T ENST00000414170.3 + 3 460 c.173C>T c.(172-174)aCc>aTc p.T58I LIPC_ENST00000356113.6_Missense_Mutation_p.T58I|LIPC_ENST00000433326.2_Missense_Mutation_p.T58I|LIPC_ENST00000299022.5_Missense_Mutation_p.T58I P11150 LIPC_HUMAN lipase, hepatic 58 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TTTGGAGAAACCAATCAGGGC 0.478000 101 276 0 0 0.014410 0 0 SH3GL3 6457 broad.mit.edu 37 15 84245353 84245353 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:84245353G>A ENST00000324537.5 + 9 1000 c.508G>A c.(508-510)Gaa>Aaa p.E170K SH3GL3_ENST00000427482.2_Missense_Mutation_p.E162K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E170K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.E162K Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 162 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GAAAAAGCTGGAAGGCCGCCG 0.393000 28 38 0 0 0.009535 0 0 LRFN2 57497 broad.mit.edu 37 6 40400046 40400046 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:40400046C>T ENST00000338305.6 - 2 1349 c.807G>A c.(805-807)ggG>ggA p.G269G NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 269 LRRCT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTTGAGGCCCCCTGGGGAGC 0.587000 30 64 0 0 0.006320 0 0 SLC6A5 9152 broad.mit.edu 37 11 20623211 20623211 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:20623211G>A ENST00000525748.1 + 2 813 c.540_splice c.e2+1 p.Q180_splice NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 180 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) TTGCCACCCAGGTAAGCAGGT 0.657000 6 36 0 0 0.001984 0 0 UNC45B 146862 broad.mit.edu 37 17 33482405 33482405 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:33482405C>T ENST00000268876.5 + 7 827 c.730C>T c.(730-732)Ctg>Ttg p.L244L UNC45B_ENST00000591048.1_Silent_p.L244L|UNC45B_ENST00000433649.1_Silent_p.L244L|UNC45B_ENST00000394570.2_Silent_p.L244L|UNC45B_ENST00000378449.1_Silent_p.L244L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 244 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TGTCTGCAACCTGCTCCAAGC 0.542000 63 161 0 0 0.014410 0 0 KLKB1 3818 broad.mit.edu 37 4 187158058 187158058 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:187158058C>T ENST00000264690.6 + 5 639 c.452C>T c.(451-453)tCa>tTa p.S151L KLKB1_ENST00000513864.1_Missense_Mutation_p.S151L NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 151 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) CAGTTTTTTTCATATGCCACG 0.413000 33 74 0 0 0.003271 0 0 CTSS 1520 broad.mit.edu 37 1 150724439 150724439 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:150724439C>T ENST00000368985.3 - 5 705 c.445G>A c.(445-447)Gaa>Aaa p.E149K CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.E99K NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 149 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) AGCTGTGCTTCCAGGGCCCCC 0.478000 47 111 0 0 0.014410 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651601 8651601 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:8651601C>T ENST00000270328.4 - 19 2510 c.2244G>A c.(2242-2244)ctG>ctA p.L748L ADAMTS10_ENST00000597188.1_Silent_p.L748L|ADAMTS10_ENST00000595838.1_Silent_p.L235L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 748 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGTCTCCCTTCAGGGCTGGGG 0.642000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 159 0 0 0.014410 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891684 2891684 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:2891684G>A ENST00000254528.3 + 4 1718 c.1559G>A c.(1558-1560)gGg>gAg p.G520E NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 520 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) AGTCCCCCAGGGGCAGCAGCC 0.507000 48 61 0 0 0.014410 0 0 SNHG14 104472715 broad.mit.edu 37 15 25231976 25231976 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:25231976G>A ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 AGAATCTCTGGAAGAGATGAC 0.488000 8 22 0 0 0.003080 0 0 TRIML1 339976 broad.mit.edu 37 4 189068214 189068214 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:189068214G>A ENST00000332517.3 + 6 1235 c.1095G>A c.(1093-1095)aaG>aaA p.K365K TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 365 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGAGCAGAAAGGGGAATCTCC 0.522000 16 106 0 0 0.006122 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697550 17697550 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:17697550C>T ENST00000399080.2 - 1 2156 c.2133G>A c.(2131-2133)atG>atA p.M711I NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 711 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) GAGGACAACTCATATTCTGAC 0.313000 16 117 0 0 0.006122 0 0 CACNA1E 777 broad.mit.edu 37 1 181687205 181687205 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:181687205C>T ENST00000526775.1 + 12 1705 c.1540C>T c.(1540-1542)Ctg>Ttg p.L514L CACNA1E_ENST00000357570.5_Silent_p.L465L|CACNA1E_ENST00000367570.1_Silent_p.L514L|CACNA1E_ENST00000360108.3_Silent_p.L514L|CACNA1E_ENST00000367573.2_Silent_p.L514L|CACNA1E_ENST00000358338.5_Silent_p.L465L|CACNA1E_ENST00000367567.4_Silent_p.L121L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 514 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 TGCAGAATTTCTGTTTCTGGG 0.463000 9 24 0 0 0.006214 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884134 24884134 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24884134C>T ENST00000382554.3 + 9 3497 c.3179C>T c.(3178-3180)gCa>gTa p.A1060V NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1060 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTGCCAGGGGCAGCTTCTCCC 0.647000 46 126 0 0 0.014410 0 0 ARMC1 55156 broad.mit.edu 37 8 66517710 66517710 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:66517710G>A ENST00000276569.3 - 5 773 c.529C>T c.(529-531)Caa>Taa p.Q177* ARMC1_ENST00000458464.2_Nonsense_Mutation_p.Q75* NM_018120.4 NP_060590.1 Q9NVT9 ARMC1_HUMAN armadillo repeat containing 1 177 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) ACAGCCATTTGAAAAGTAAAG 0.328000 11 59 0 0 0.010729 0 0 CCDC37 348807 broad.mit.edu 37 3 126142196 126142196 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:126142196G>A ENST00000393425.1 + 12 1213 c.1114G>A c.(1114-1116)Gag>Aag p.E372K CCDC37_ENST00000505024.1_Missense_Mutation_p.E372K|CCDC37_ENST00000352312.1_Missense_Mutation_p.E371K Q494V2 CCD37_HUMAN coiled-coil domain containing 37 371 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) CCCCACGCAGGAGGACACCGA 0.667000 20 31 0 0 0.003330 0 0 AKNA 80709 broad.mit.edu 37 9 117129925 117129925 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:117129925G>A ENST00000307564.4 - 6 1787 c.1626C>T c.(1624-1626)ccC>ccT p.P542P AKNA_ENST00000223791.3_Silent_p.P2P|AKNA_ENST00000374088.3_Silent_p.P542P|AKNA_ENST00000312033.3_Silent_p.P542P|AKNA_ENST00000374075.5_Silent_p.P461P NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 542 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 ACCCCAGGGTGGGCATGCTGG 0.612000 27 83 0 0 0.007291 0 0 ACO1 48 broad.mit.edu 37 9 32431821 32431821 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:32431821G>A ENST00000379923.1 + 16 2037 c.1831G>A c.(1831-1833)Gaa>Aaa p.E611K ACO1_ENST00000309951.5_Missense_Mutation_p.E611K|ACO1_ENST00000541043.1_Missense_Mutation_p.E512K NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 611 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) GATGTTTAAGGAAGTCTATCA 0.517000 OREG0019130 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 58 0 0 0.014323 0 0 NID1 4811 broad.mit.edu 37 1 236212240 236212240 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:236212240G>A ENST00000264187.6 - 2 357 c.275C>T c.(274-276)tCc>tTc p.S92F NID1_ENST00000366595.3_Missense_Mutation_p.S92F NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 92 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCCGGGATGGGATTCTTTGGC 0.532000 40 127 0 0 0.011902 0 0 SCN2A 6326 broad.mit.edu 37 2 166210825 166210825 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:166210825G>A ENST00000357398.3 + 17 3333 c.3043G>A c.(3043-3045)Gat>Aat p.D1015N SCN2A_ENST00000375427.2_Missense_Mutation_p.D1015N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1015N|SCN2A_ENST00000375437.2_Missense_Mutation_p.D1015N Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1015 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAAAGGAATCGATTTTGTTAA 0.348000 57 153 0 0 0.014410 0 0 ACTC1 70 broad.mit.edu 37 15 35085666 35085666 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:35085666G>A ENST00000290378.4 - 3 889 c.234C>T c.(232-234)atC>atT p.I78I RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 78 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CCCAGTTGGTGATGATACCAT 0.567000 48 125 0 0 0.014410 0 0 MAP2K6 5608 broad.mit.edu 37 17 67501925 67501925 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:67501925G>A ENST00000590474.1 + 2 308 c.21G>A c.(19-21)aaG>aaA p.K7K MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 7 activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) CCATAGGCAAGAAGCGAAACC 0.433000 41 114 0 0 0.010771 0 0 SP140L 93349 broad.mit.edu 37 2 231254654 231254654 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:231254654G>A ENST00000243810.6 + 11 880 c.880G>A c.(880-882)Gaa>Aaa p.E294K SP140L_ENST00000415673.2_Missense_Mutation_p.E294K|SP140L_ENST00000396563.4_Intron|SP140L_ENST00000444636.1_Missense_Mutation_p.E294K Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 294 SAND. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GCACAAAGATGAAACTGTGGA 0.433000 19 44 0 0 0.006122 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89247319 89247319 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:89247319C>T ENST00000496168.1 - 0 156 GGGTCTGACTCCTGCACAAAG 0.587000 53 127 0 0 0.014410 0 0 SUSD2 56241 broad.mit.edu 37 22 24580798 24580798 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:24580798C>T ENST00000358321.3 + 5 933 c.672C>T c.(670-672)atC>atT p.I224I NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 224 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 CCACACACATCCCCAACTCCG 0.567000 36 62 0 0 0.004289 0 0 LRP1B 53353 broad.mit.edu 37 2 141272273 141272273 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141272273C>T ENST00000389484.3 - 51 9189 c.8218G>A c.(8218-8220)Gat>Aat p.D2740N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2740 LDL-receptor class A 16. 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) TCTTCTCCATCACAAATCCAA 0.348000 TSP Lung(27;0.18) 31 71 0 0 0.003755 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748160 41748160 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:41748160G>A ENST00000226382.2 - 3 968 c.609C>T c.(607-609)aaC>aaT p.N203N NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 203 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 TGGGGGTGGGGTTGGGATTGG 0.736000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 20 77 0 0 0.005443 0 0 MICALCL 84953 broad.mit.edu 37 11 12316171 12316171 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:12316171C>T ENST00000256186.2 + 3 1484 c.1193C>T c.(1192-1194)tCc>tTc p.S398F NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 398 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) TCACTTTTTTCCTCCCTCAGA 0.453000 50 198 0 0 0.014410 0 0 KCNB2 9312 broad.mit.edu 37 8 73480497 73480497 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:73480497G>A ENST00000523207.1 + 2 1116 c.528G>A c.(526-528)agG>agA p.R176R NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 176 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGATAAAAGGAAGAAACTGT 0.443000 34 97 0 0 0.003271 0 0 CLUL1 27098 broad.mit.edu 37 18 633399 633399 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:633399G>A ENST00000581619.1 + 6 1880 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K CLUL1_ENST00000400606.2_Missense_Mutation_p.E320K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E320K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E372K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E320K Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 320 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 CAAATTTCATGAAAAATGCCA 0.373000 13 22 0 0 0.013537 0 0 OR4M2 390538 broad.mit.edu 37 15 22368579 22368579 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:22368579G>A ENST00000332663.2 + 1 102 c.4G>A c.(4-6)Gaa>Aaa p.E2K RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 2 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) TGAAGAAATGGAAACTGCAAA 0.328000 24 101 0 0 0.003954 0 0 LIMCH1 22998 broad.mit.edu 37 4 41684366 41684366 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:41684366G>A ENST00000313860.7 + 21 2636 c.2582G>A c.(2581-2583)gGa>gAa p.G861E LIMCH1_ENST00000509277.1_Missense_Mutation_p.G694E|LIMCH1_ENST00000508501.1_Missense_Mutation_p.G860E|LIMCH1_ENST00000512632.1_Missense_Mutation_p.G784E|LIMCH1_ENST00000513024.1_Missense_Mutation_p.G714E|LIMCH1_ENST00000503057.1_Missense_Mutation_p.G1245E|LIMCH1_ENST00000514096.1_Missense_Mutation_p.G701E|LIMCH1_ENST00000381753.4_Missense_Mutation_p.G694E|LIMCH1_ENST00000512820.1_Missense_Mutation_p.G873E|LIMCH1_ENST00000511496.1_Missense_Mutation_p.G701E|LIMCH1_ENST00000396595.3_Missense_Mutation_p.G706E|LIMCH1_ENST00000512946.1_Missense_Mutation_p.G861E NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 861 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATAGACCTGGGAAACTGTCAA 0.363000 7 20 0 0 0.001984 0 0 MAP4K2 5871 broad.mit.edu 37 11 64559445 64559445 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:64559445G>A ENST00000294066.2 - 27 2119 c.2028C>T c.(2026-2028)tgC>tgT p.C676C MAP4K2_ENST00000377350.3_Silent_p.C668C NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 676 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 ACAGGACGCGGCAGCCGGGCC 0.701000 7 10 0 0 0.008291 0 0 FAT4 79633 broad.mit.edu 37 4 126329693 126329693 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:126329693C>T ENST00000394329.3 + 4 5677 c.5664C>T c.(5662-5664)atC>atT p.I1888I FAT4_ENST00000335110.5_Silent_p.I186I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1888 Cadherin 18. 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 AAGATGGCATCTTTTTCCTGA 0.373000 12 57 0 0 0.002450 0 0 USH2A 7399 broad.mit.edu 37 1 216107984 216107984 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:216107984G>C ENST00000366943.2 - 38 7660 c.7274C>G c.(7273-7275)cCt>cGt p.P2425R USH2A_ENST00000307340.3_Missense_Mutation_p.P2425R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2425 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATTGTTATAGGATCAGTTAT 0.378000 HNSCC(13;0.011) 12 44 0 0 0.013537 0 0 RNF17 56163 broad.mit.edu 37 13 25416217 25416217 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:25416217G>A ENST00000255324.5 + 19 2573 c.2521G>A c.(2521-2523)Gat>Aat p.D841N RNF17_ENST00000381921.1_Missense_Mutation_p.D841N NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 841 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGAGCTTTTCGATTCTCTTGG 0.348000 18 33 0 0 0.008871 0 0 OR6C70 390327 broad.mit.edu 37 12 55863714 55863714 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:55863714G>A ENST00000327335.4 - 1 208 c.209C>T c.(208-210)tCa>tTa p.S70L RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 AGTTGTGAATGAAATTTCCAG 0.388000 23 59 0 0 0.002780 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988778 64988778 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:64988778C>T ENST00000358738.3 + 2 947 c.556C>T c.(556-558)Cct>Tct p.P186S ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186S|ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186S|RP11-973N13.4_ENST00000554918.1_RNA NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AGGTAATTTTCCTGAGCCACT 0.413000 31 86 0 0 0.009535 0 0 ATG2A 23130 broad.mit.edu 37 11 64678165 64678165 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:64678165C>T ENST00000421419.2 - 12 1744 c.1630G>A c.(1630-1632)Ggt>Agt p.G544S ATG2A_ENST00000377264.3_Missense_Mutation_p.G544S Q2TAZ0 ATG2A_HUMAN autophagy related 2A 544 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 CCCAGCGTACCAGGAAAGGTC 0.667000 10 13 0 0 0.008291 0 0 CD163 9332 broad.mit.edu 37 12 7633767 7633767 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7633767C>T ENST00000359156.4 - 15 3535 c.3333G>A c.(3331-3333)atG>atA p.M1111I CD163_ENST00000396620.3_Missense_Mutation_p.M1144I|CD163_ENST00000432237.2_Missense_Mutation_p.M1111I|CD163_ENST00000541972.1_Missense_Mutation_p.M1099I NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1111 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CTGAGGAATTCATTAGGTCCA 0.448000 23 66 0 0 0.003330 0 0 ATL2 64225 broad.mit.edu 37 2 38536592 38536592 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:38536592G>A ENST00000378954.4 - 9 1001 c.1000C>T c.(1000-1002)Cct>Tct p.P334S ATL2_ENST00000452935.2_Missense_Mutation_p.P316S|ATL2_ENST00000546051.1_Missense_Mutation_p.P163S|ATL2_ENST00000402054.1_Missense_Mutation_p.P163S|ATL2_ENST00000332337.4_Missense_Mutation_p.P316S|ATL2_ENST00000406122.1_Missense_Mutation_p.P163S|ATL2_ENST00000419554.2_Missense_Mutation_p.P334S|ATL2_ENST00000539122.1_Missense_Mutation_p.P163S NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 334 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 AAATTTTCAGGGGCAAGCAGC 0.328000 43 88 0 0 0.014410 0 0 RYR1 6261 broad.mit.edu 37 19 38939129 38939129 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:38939129C>T ENST00000355481.4 + 10 1066 c.935C>T c.(934-936)tCc>tTc p.S312F RYR1_ENST00000360985.3_Missense_Mutation_p.S312F|RYR1_ENST00000359596.3_Missense_Mutation_p.S312F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 312 MIR 4. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AAGGCTACCTCCTTCTGCTTC 0.647000 76 134 0 0 0.014410 0 0 NANOGP1 404635 broad.mit.edu 37 12 8050890 8050890 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:8050890G>A ENST00000607111.1 + 0 293 kidney(1)|lung(4)|prostate(1) 6 accagagaatgaaatctaaga 0.363000 16 33 0 0 0.006122 0 0 KRT38 8687 broad.mit.edu 37 17 39597035 39597035 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39597035C>T ENST00000246646.3 - 1 138 c.139G>A c.(139-141)Gcc>Acc p.A47T NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 47 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GCCACGTTGGCCAAAAGGCAC 0.627000 37 103 0 0 0.003755 0 0 INSRR 3645 broad.mit.edu 37 1 156812000 156812000 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:156812000C>T ENST00000368195.3 - 19 3697 c.3301G>A c.(3301-3303)Gac>Aac p.D1101N NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1101 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCATGCCGTCTGCAATCTCA 0.572000 15 51 0 0 0.004007 0 0 NPDC1 56654 broad.mit.edu 37 9 139935265 139935265 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:139935265C>T ENST00000371600.3 - 3 1463 c.e3+1 NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371601.4_Splice_Site Q9NQX5 NPDC1_HUMAN neural proliferation, differentiation and control, 1 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CCAAGACCTACCAAGGGCGAG 0.721000 4 22 0 0 0.009096 0 0 MUC17 140453 broad.mit.edu 37 7 100679583 100679583 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100679583G>A ENST00000306151.4 + 3 4950 c.4886G>A c.(4885-4887)gGa>gAa p.G1629E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1629 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) CCTAGTGAAGGAAGTCCTCTA 0.502000 152 412 0 0 0.014410 0 0 MAGEC3 139081 broad.mit.edu 37 X 140983291 140983291 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:140983291G>A ENST00000298296.1 + 6 1069 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 357 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGACAGGAAGATGGCCG 0.592000 18 31 0 0 0.006122 0 0 ANO5 203859 broad.mit.edu 37 11 22283728 22283728 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:22283728C>T ENST00000324559.8 + 16 2001 c.1684C>T c.(1684-1686)Ctg>Ttg p.L562L CTD-3064C13.1_ENST00000526935.1_RNA NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 562 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 GAAAATGTTCCTGTTTCAGTT 0.323000 16 90 0 0 0.004007 0 0 CFAP54 144535 broad.mit.edu 37 12 97051840 97051840 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:97051840G>A ENST00000524981.3 + 4 634 c.634G>A c.(634-636)Gaa>Aaa p.E212K Q6ZTY8 CL063_HUMAN 186 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 GGAAAAATGGGAAACACTAGT 0.333000 21 74 0 0 0.014323 0 0 LIFR 3977 broad.mit.edu 37 5 38486020 38486020 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:38486020C>T ENST00000263409.4 - 17 2560 c.2398G>A c.(2398-2400)Gat>Aat p.D800N LIFR_ENST00000453190.2_Missense_Mutation_p.D800N NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 800 Fibronectin type-III 6. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CCTTGAAGATCAGCAATTCTC 0.388000 T PLAG1 salivary adenoma 24 69 0 0 0.003330 0 0 VPS13B 157680 broad.mit.edu 37 8 100128049 100128049 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:100128049G>A ENST00000395996.1 + 7 995 c.884G>A c.(883-885)gGc>gAc p.G295D VPS13B_ENST00000358544.2_Missense_Mutation_p.G295D|VPS13B_ENST00000441350.2_Missense_Mutation_p.G295D|VPS13B_ENST00000357162.2_Missense_Mutation_p.G295D|VPS13B_ENST00000355155.1_Missense_Mutation_p.G295D Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 295 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) TTTAAAGAAGGCGAAATAGAG 0.294000 11 76 0 0 0.010729 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441511 1441511 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:1441511C>T ENST00000270349.9 - 3 508 c.381G>A c.(379-381)ggG>ggA p.G127G SLC6A3_ENST00000453492.2_Silent_p.G127G NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 127 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) CACCAGCGGCCCCTTCCCTGT 0.597000 38 104 0 0 0.005524 0 0 ARID4B 51742 broad.mit.edu 37 1 235392677 235392677 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:235392677G>A ENST00000264183.3 - 11 1263 c.766C>T c.(766-768)Cac>Tac p.H256Y ARID4B_ENST00000349213.3_Missense_Mutation_p.H256Y|ARID4B_ENST00000366603.2_Missense_Mutation_p.H256Y NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CTACTTTTGTGAAATTCAAGT 0.368000 30 52 0 0 0.003755 0 0 OTOP3 347741 broad.mit.edu 37 17 72945471 72945471 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:72945471A>C ENST00000328801.4 + 7 1751 c.1751A>C c.(1750-1752)cAc>cCc p.H584P NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 584 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) TACCGCATGCACTCTGTGGGA 0.602000 29 109 0 0 0.012213 0 0 AMER3 205147 broad.mit.edu 37 2 131520927 131520927 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:131520927G>A ENST00000423981.1 + 2 1392 c.1282G>A c.(1282-1284)Gac>Aac p.D428N AMER3_ENST00000321420.4_Missense_Mutation_p.D428N NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GCTCTTCCACGACCCCAGCGA 0.637000 42 91 0 0 0.007835 0 0 RBM48 84060 broad.mit.edu 37 7 92158092 92158092 + Translation_Start_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:92158092G>A ENST00000481551.1 + 0 6 RBM48_ENST00000265732.5_De_novo_Start_OutOfFrame Q5RL73 CG064_HUMAN RNA binding motif protein 48 nucleotide binding CAGTAGGGCGGATGTTGTCCT 0.562000 15 35 0 0 0.002450 0 0 MALSU1 115416 broad.mit.edu 37 7 23349140 23349140 + Missense_Mutation SNP C C T rs147835768 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:23349140C>T ENST00000466681.1 + 4 836 c.683C>T c.(682-684)cCa>cTa p.P228L NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 228 mitochondrion TCTGTGACTCCAGTGGAGTTA 0.383000 8 59 0 0 0.004482 0 0 GCN1L1 10985 broad.mit.edu 37 12 120569807 120569807 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:120569807G>A ENST00000300648.6 - 54 7349 c.7337C>T c.(7336-7338)tCa>tTa p.S2446L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2446 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCACCCGGCTGAGGAGATGCG 0.572000 6 23 0 0 0.001984 0 0 VWC2L 402117 broad.mit.edu 37 2 215440493 215440493 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:215440493G>A ENST00000312504.5 + 4 1420 c.618G>A c.(616-618)tgG>tgA p.W206* AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_3'UTR NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 206 extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 GGGACTGGTGGAAGCCTGCTC 0.478000 41 109 0 0 0.011902 0 0 NEK6 10783 broad.mit.edu 37 9 127113138 127113138 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:127113138G>A ENST00000373600.3 + 11 1171 c.956G>A c.(955-957)tGc>tAc p.C319Y NEK6_ENST00000540326.1_Missense_Mutation_p.C303Y|NEK6_ENST00000539416.1_Missense_Mutation_p.C310Y|NEK6_ENST00000545174.1_Missense_Mutation_p.C285Y|NEK6_ENST00000373603.1_Missense_Mutation_p.C285Y|NEK6_ENST00000394199.2_Missense_Mutation_p.C319Y|NEK6_ENST00000320246.5_Missense_Mutation_p.C285Y|NEK6_ENST00000546191.1_Missense_Mutation_p.C285Y NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 285 apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 GTCAGCATGTGCATCTGCCCT 0.552000 27 78 0 0 0.007291 0 0 SSPO 23145 broad.mit.edu 37 7 149506159 149506159 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:149506159C>T ENST00000378016.2 + 0 9151 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTTGGTCTCCGTGCTCCGT 0.687000 12 27 0 0 0.001855 0 0 LRFN2 57497 broad.mit.edu 37 6 40400412 40400412 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:40400412G>A ENST00000338305.6 - 2 983 c.441C>T c.(439-441)ttC>ttT p.F147F NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 147 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) ATGTCAGCAGGAAGTCCTCAA 0.607000 28 92 0 0 0.006320 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16054325 16054325 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:16054325C>T ENST00000375799.3 + 9 1985 c.1758C>T c.(1756-1758)ttC>ttT p.F586F RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Silent_p.F566F NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 586 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CCTCGGAGTTCAGGTAACAAG 0.572000 6 11 0 0 0.001984 0 0 C15orf39 56905 broad.mit.edu 37 15 75499767 75499767 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:75499767C>T ENST00000360639.2 + 2 1698 c.1378C>T c.(1378-1380)Ccg>Tcg p.P460S C15orf39_ENST00000394987.4_Missense_Mutation_p.P460S|C15orf39_ENST00000567617.1_Missense_Mutation_p.P460S Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 460 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 GCACTCTGGGCCGCCCATCGT 0.647000 37 96 0 0 0.007835 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20248603G>A ENST00000315957.4 + 1 203 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 79 307 0 0 0.014410 0 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 4 20 0.00909568 0.00921126 0.009096 1 0 ZFAND4 93550 broad.mit.edu 37 10 46121896 46121896 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:46121896G>A ENST00000374366.3 - 8 1618 c.1153C>T c.(1153-1155)Ctt>Ttt p.L385F ZFAND4_ENST00000344646.5_Missense_Mutation_p.L459F|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 459 zinc ion binding CGGTAGTTAAGAACTGAAGTC 0.458000 107 154 0 0 0.014410 0 0 CNTN4 152330 broad.mit.edu 37 3 2928840 2928840 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:2928840G>A ENST00000397461.1 + 9 1256 c.872G>A c.(871-873)gGt>gAt p.G291D CNTN4_ENST00000427331.1_Missense_Mutation_p.G291D|CNTN4_ENST00000358480.3_Missense_Mutation_p.G72D|CNTN4_ENST00000418658.1_Missense_Mutation_p.G291D NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 291 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GAGGATGCTGGTTTATATGAA 0.393000 19 62 0 0 0.007413 0 0 C3 718 broad.mit.edu 37 19 6711027 6711027 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:6711027C>T ENST00000245907.6 - 12 1542 c.1450G>A c.(1450-1452)Gag>Aag p.E484K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 484 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATCTTGGCCTCGTGGGCGCGG 0.602000 104 276 0 0 0.014410 0 0 MYOM2 9172 broad.mit.edu 37 8 2033485 2033485 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:2033485C>T ENST00000262113.4 + 14 1748 c.1607C>T c.(1606-1608)cCc>cTc p.P536L MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 536 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle p.P536L(1) 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) CCACCCACTCCCCGTGGCAAG 0.587000 15 54 0 0 0.003163 0 0 ZNF266 10781 broad.mit.edu 37 19 9524886 9524886 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9524886G>A ENST00000592904.1 - 5 2791 c.715C>T c.(715-717)Ccc>Tcc p.P239S ZNF266_ENST00000361151.1_Missense_Mutation_p.P239S|ZNF266_ENST00000590306.1_Missense_Mutation_p.P239S|ZNF266_ENST00000592292.1_Missense_Mutation_p.P239S|ZNF266_ENST00000588221.1_Missense_Mutation_p.P239S|ZNF266_ENST00000588933.1_Missense_Mutation_p.P239S|ZNF266_ENST00000361451.2_Missense_Mutation_p.P239S Q14584 ZN266_HUMAN zinc finger protein 266 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 CACTCATAGGGATTGTCTCCA 0.408000 36 87 0 0 0.004289 0 0 CLDN25 644672 broad.mit.edu 37 11 113650778 113650778 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:113650778C>T ENST00000453129.2 + 1 310 c.261C>T c.(259-261)tcC>tcT p.S87S NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 87 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TGGTAGCCTCCCATGGGCTGG 0.567000 114 163 0 0 0.014410 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965728 35965728 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:35965728C>T ENST00000274278.3 - 4 960 c.603G>A c.(601-603)gtG>gtA p.V201V UGT3A1_ENST00000503189.1_Silent_p.V201V|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Silent_p.V147V|UGT3A1_ENST00000507113.1_Silent_p.V167V NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 201 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) GAAAATTCTTCACTCGGCCCC 0.478000 22 57 0 0 0.002780 0 0 KIAA0196 9897 broad.mit.edu 37 8 126075787 126075787 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:126075787G>A ENST00000318410.7 - 11 1734 c.1385C>T c.(1384-1386)cCc>cTc p.P462L KIAA0196_ENST00000517845.1_Missense_Mutation_p.P314L NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 462 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TCTGGTTAGGGGTTTCACTCC 0.428000 36 127 0 0 0.003755 0 0 DLG2 1740 broad.mit.edu 37 11 83182697 83182697 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:83182697G>A ENST00000398309.2 - 19 2573 c.2103C>T c.(2101-2103)ttC>ttT p.F701F DLG2_ENST00000426717.2_Silent_p.F165F|DLG2_ENST00000543673.1_Silent_p.F806F|DLG2_ENST00000376104.2_Silent_p.F806F|DLG2_ENST00000404783.3_Silent_p.F179F|DLG2_ENST00000376106.3_Silent_p.F165F|DLG2_ENST00000537455.1_Silent_p.F451F|DLG2_ENST00000330014.6_Silent_p.F622F|DLG2_ENST00000532653.1_Silent_p.F683F|DLG2_ENST00000531015.1_Silent_p.F668F|DLG2_ENST00000524982.1_Silent_p.F697F|DLG2_ENST00000280241.8_Silent_p.F740F|DLG2_ENST00000418306.2_Silent_p.F580F NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 701 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) ATTTATCAGGGAATTCAGATA 0.423000 11 8 0 0 0.001855 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540798 133540798 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:133540798G>A ENST00000409261.1 - 14 3959 c.3586C>T c.(3586-3588)Cca>Tca p.P1196S NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1196S|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1196 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 ATGCTTGCTGGATTCTTGGAG 0.493000 26 66 0 0 0.003954 0 0 EPHB6 2051 broad.mit.edu 37 7 142562484 142562484 + Missense_Mutation SNP G G A rs55728646 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142562484G>A ENST00000392957.2 + 7 1713 c.926G>A c.(925-927)cGa>cAa p.R309Q EPHB6_ENST00000411471.2_Missense_Mutation_p.R32Q|EPHB6_ENST00000442129.1_Missense_Mutation_p.R309Q NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 309 Cys-rich. R -> Q. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAACCAGCACGAGGAGACAAG 0.657000 60 116 0 0 0.014410 0 0 POTEE 445582 broad.mit.edu 37 2 132021641 132021641 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:132021641C>T ENST00000356920.5 + 15 2707 c.2613C>T c.(2611-2613)ctC>ctT p.L871L POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 871 Actin-like. ATP binding GGAATGCCCTCCCCCATGCCA 0.622000 35 100 0 0 0.014410 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60217681 60217681 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:60217681A>G ENST00000269499.5 + 5 1719 c.1301A>G c.(1300-1302)gAg>gGg p.E434G ZCCHC2_ENST00000586834.1_Missense_Mutation_p.E113G NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 434 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 CCTGACCTAGAGCCCATCCTA 0.493000 9 11 0 0 0.006214 0 0 PTPRE 5791 broad.mit.edu 37 10 129875895 129875895 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:129875895G>A ENST00000254667.3 + 19 2019 c.1740G>A c.(1738-1740)caG>caA p.Q580Q PTPRE_ENST00000306042.5_Silent_p.Q522Q|PTPRE_ENST00000419012.2_Silent_p.Q580Q NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 580 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) AGGCCCGCCAGGAGGAGCAGG 0.672000 20 22 0 0 0.002780 0 0 DIP2A 23181 broad.mit.edu 37 21 47918538 47918538 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47918538C>T ENST00000318711.7 + 5 630 c.447C>T c.(445-447)ccC>ccT p.P149P DIP2A_ENST00000427143.2_Silent_p.P85P|DIP2A_ENST00000466639.1_Silent_p.P149P|DIP2A_ENST00000417564.2_Silent_p.P149P|DIP2A_ENST00000400274.1_Silent_p.P149P|DIP2A_ENST00000457905.3_Silent_p.P149P|DIP2A_ENST00000435722.3_Silent_p.P149P NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 149 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TACGGCGACCCGGGCGACTCA 0.587000 101 259 0 0 0.014410 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42438057 42438057 + Missense_Mutation SNP C C T rs144729400 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:42438057C>T ENST00000397272.3 - 15 1676 c.1585G>A c.(1585-1587)Ggg>Agg p.G529R PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G527R NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 527 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ACATAAGCCCCGTACTTGGGG 0.592000 47 122 0 0 0.014410 0 0 LRP1B 53353 broad.mit.edu 37 2 141598492 141598492 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141598492G>A ENST00000389484.3 - 30 6080 c.5109C>T c.(5107-5109)gtC>gtT p.V1703V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1703 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) TTTACCCCCTGACTGGGTGAG 0.343000 TSP Lung(27;0.18) 21 54 0 0 0.012319 0 0 HIRA 7290 broad.mit.edu 37 22 19375274 19375274 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:19375274G>A ENST00000263208.5 - 11 1329 c.1073C>T c.(1072-1074)tCc>tTc p.S358F HIRA_ENST00000340170.4_Missense_Mutation_p.S358F|HIRA_ENST00000541063.1_Missense_Mutation_p.S314F|HIRA_ENST00000546308.1_Missense_Mutation_p.S314F NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 358 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CTCATCCTGGGAGAAGTCGAG 0.572000 15 28 0 0 0.004990 0 0 FGFR2 2263 broad.mit.edu 37 10 123239450 123239450 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:123239450G>A ENST00000358487.5 - 18 2659 c.2387C>T c.(2386-2388)tCt>tTt p.S796F FGFR2_ENST00000369061.4_Missense_Mutation_p.S684F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S679F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S680F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S794F|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000478859.1_Missense_Mutation_p.S568F|FGFR2_ENST00000369059.1_Missense_Mutation_p.S682F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S797F NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 796 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) AGAAAAAACAGAATCATCTCC 0.458000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 47 71 0 0 0.013114 0 0 NLRP3 114548 broad.mit.edu 37 1 247588768 247588768 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:247588768C>T ENST00000366497.2 + 4 2803 c.2023C>T c.(2023-2025)Cgg>Tgg p.R675W NLRP3_ENST00000348069.2_Missense_Mutation_p.R675W|NLRP3_ENST00000336119.3_Missense_Mutation_p.R675W|NLRP3_ENST00000391828.3_Missense_Mutation_p.R675W|NLRP3_ENST00000391827.2_Missense_Mutation_p.R675W|NLRP3_ENST00000366496.2_Missense_Mutation_p.R675W|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 675 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAACTGTCATCGGGTGGAGTC 0.502000 18 85 0 0 0.007413 0 0 KLK11 11012 broad.mit.edu 37 19 51527622 51527622 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51527622G>A ENST00000391804.3 - 4 262 c.217C>T c.(217-219)Ccc>Tcc p.P73S KLK11_ENST00000319720.7_Intron|KLK11_ENST00000453757.3_Intron|KLK11_ENST00000594458.1_Intron|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594768.1_Intron Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 98 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) ACATGGGTGGGAGAGGTGAGT 0.582000 20 47 0 0 0.007413 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642723 1642723 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1642723A>C ENST00000399682.1 - 1 645 c.601T>G c.(601-603)Tca>Gca p.S201A NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 261 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGCAGGATGACCCACAACCT 0.592000 90 219 0 0 0.014410 0 0 PPM1E 22843 broad.mit.edu 37 17 57033120 57033120 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:57033120G>A ENST00000308249.2 + 2 704 c.575G>A c.(574-576)gGg>gAg p.G192E NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 201 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GGCACAGAAGGGACTGTGGGT 0.383000 33 77 0 0 0.013726 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057061 120057061 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:120057061C>T ENST00000235547.6 + 4 1060 c.921C>T c.(919-921)ctC>ctT p.L307L HSD3B1_ENST00000528909.1_Silent_p.L305L|HSD3B1_ENST00000369413.3_Silent_p.L305L NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 305 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GCTTCCTACTCAGGCCAATTT 0.478000 130 139 0 0 0.014410 0 0 DBH 1621 broad.mit.edu 37 9 136507497 136507497 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:136507497C>T ENST00000393056.2 + 3 667 c.655C>T c.(655-657)Ccc>Tcc p.P219S NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 219 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) GGTCCAAGCTCCCAATATCCA 0.592000 13 52 0 0 0.003163 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713009 138713009 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:138713009G>A ENST00000389532.4 - 11 3562 c.3498C>T c.(3496-3498)ttC>ttT p.F1166F CAMSAP1_ENST00000312405.6_Silent_p.F888F|CAMSAP1_ENST00000409386.3_Silent_p.F1177F|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1166 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGTAACTGTCGAAGAGACACT 0.567000 71 259 0 0 0.014410 0 0 PIK3R2 5296 broad.mit.edu 37 19 18274115 18274115 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:18274115C>T ENST00000593731.1 + 11 1893 c.1333C>T c.(1333-1335)Cag>Tag p.Q445* PIK3R2_ENST00000222254.7_Nonsense_Mutation_p.Q445* O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 445 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 AGTGGGCGCCCAGCTTAAGGT 0.572000 45 155 0 0 0.013114 0 0 TRAV17 28666 broad.mit.edu 37 14 22466152 22466152 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22466152C>T ENST00000390445.2 + 0 229 AGAAGAGGATCCTCAGGCCTT 0.418000 6 31 0 0 0.001168 0 0 SEC16B 89866 broad.mit.edu 37 1 177902403 177902403 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:177902403G>A ENST00000308284.6 - 22 2858 c.2769C>T c.(2767-2769)acC>acT p.T923T SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 923 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 ATGCGTTCTTGGTGGGCTTCG 0.577000 7 16 0 0 0.003080 0 0 FAM47A 158724 broad.mit.edu 37 X 34148766 34148766 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:34148766G>A ENST00000346193.3 - 1 1681 c.1630C>T c.(1630-1632)Cgc>Tgc p.R544C NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 544 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGCTCCGGGCGGAGACTGGAC 0.637000 50 62 0 0 0.014410 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286728 55286728 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:55286728C>T ENST00000336077.6 + 4 522 c.482C>T c.(481-483)tCc>tTc p.S161F KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S161F|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 161 Ig-like C2-type 2. 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) TACCATCTATCCAGGGAAGGG 0.607000 77 146 0 0 0.014410 0 0 SNHG14 104472715 broad.mit.edu 37 15 25458723 25458723 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:25458723C>T ENST00000424208.1 + 0 2680 SNHG14_ENST00000424333.1_RNA NR_003305.1 TCCTGGCCTCCTGCACTGAGC 0.562000 30 93 0 0 0.007291 0 0 ABCA7 10347 broad.mit.edu 37 19 1046382 1046382 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:1046382C>T ENST00000263094.6 + 13 1830 c.1599C>T c.(1597-1599)ccC>ccT p.P533P ABCA7_ENST00000435683.2_Silent_p.P395P|ABCA7_ENST00000433129.1_Silent_p.P533P|ABCA7_ENST00000533574.1_3'UTR NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 533 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 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) AGCAGATGCCCTATCCGTGCT 0.706000 158 391 0 0 0.014410 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018253 161018253 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:161018253C>T ENST00000368013.3 - 12 2878 c.2558G>A c.(2557-2559)gGg>gAg p.G853E ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G676E NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 853 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TAAATAGTACCCTCCAGCCCT 0.562000 104 209 0 0 0.014410 0 0 STIL 6491 broad.mit.edu 37 1 47716976 47716976 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:47716976G>A ENST00000360380.3 - 18 4059 c.3696C>T c.(3694-3696)acC>acT p.T1232T STIL_ENST00000243182.6_Silent_p.T1232T|STIL_ENST00000337817.5_Silent_p.T1232T|STIL_ENST00000396221.2_Silent_p.T1215T|STIL_ENST00000371877.3_Silent_p.T1233T Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 1232 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CTGCTTTCCCGGTTCGAAGGT 0.403000 52 152 0 0 0.014410 0 0 ANO2 57101 broad.mit.edu 37 12 5853361 5853361 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:5853361G>A ENST00000327087.8 - 12 1372 c.1301C>T c.(1300-1302)cCt>cTt p.P434L ANO2_ENST00000546188.1_Missense_Mutation_p.P435L|ANO2_ENST00000356134.5_Missense_Mutation_p.P435L Q9NQ90 ANO2_HUMAN anoctamin 2 439 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 GACGGTGGCAGGGTTGTCAAA 0.542000 19 66 0 0 0.007413 0 0 FREM1 158326 broad.mit.edu 37 9 14806713 14806713 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:14806713C>T ENST00000380881.4 - 19 4038 c.3223G>A c.(3223-3225)Gaa>Aaa p.E1075K FREM1_ENST00000422223.2_Missense_Mutation_p.E1074K|FREM1_ENST00000380880.3_Missense_Mutation_p.E1074K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1074 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGTATATTTTCGAGGTAGCCA 0.428000 6 22 0 0 0.001168 0 0 FMO2 2327 broad.mit.edu 37 1 171168502 171168502 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:171168502G>A ENST00000441535.1 + 5 619 c.502G>A c.(502-504)Ggc>Agc p.G168S RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G168S NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 168 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGGTTCAAAGGCCAATATTT 0.448000 39 88 0 0 0.008740 0 0 LRIG3 121227 broad.mit.edu 37 12 59268347 59268347 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:59268347G>A ENST00000320743.3 - 17 2990 c.2704C>T c.(2704-2706)Cat>Tat p.H902Y LRIG3_ENST00000379141.4_Missense_Mutation_p.H842Y NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 902 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTGTCAATATGGCAGGTCCCT 0.403000 T ROS1 NSCLC 18 64 0 0 0.007413 0 0 LAMP5 24141 broad.mit.edu 37 20 9510442 9510442 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:9510442G>A ENST00000246070.2 + 6 1310 c.818G>A c.(817-819)aGa>aAa p.R273K LAMP5_ENST00000427562.2_Missense_Mutation_p.R229K NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 273 integral to membrane CCTCGGGACAGATCCCAGTAT 0.527000 12 82 0 0 0.002450 0 0 IPO8 10526 broad.mit.edu 37 12 30790024 30790024 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:30790024G>A ENST00000256079.4 - 22 2925 c.2587C>T c.(2587-2589)Ccc>Tcc p.P863S IPO8_ENST00000544829.1_Missense_Mutation_p.P658S NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 863 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) AGAATTGAGGGAACAATCTGT 0.448000 32 74 0 0 0.010818 0 0 PROM2 150696 broad.mit.edu 37 2 95954277 95954277 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:95954277C>T ENST00000317620.9 + 22 2514 c.2381C>T c.(2380-2382)cCc>cTc p.P794L PROM2_ENST00000317668.4_Missense_Mutation_p.P794L|PROM2_ENST00000542147.1_Missense_Mutation_p.P745L|PROM2_ENST00000403131.2_Missense_Mutation_p.P794L NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 794 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 TTCCTGATCCCCAGCATCATC 0.607000 53 165 0 0 0.014410 0 0 DNAJC21 134218 broad.mit.edu 37 5 34950309 34950309 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:34950309G>A ENST00000382021.2 + 11 1582 c.1355G>A c.(1354-1356)gGa>gAa p.G452E DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000303525.7_Missense_Mutation_p.G420E|DNAJC21_ENST00000342382.4_Missense_Mutation_p.G407E NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 407 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) AATGGACCTGGAGAAGGAGTA 0.333000 48 117 0 0 0.014410 0 0 TRPM8 79054 broad.mit.edu 37 2 234869601 234869601 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:234869601C>T ENST00000324695.4 + 12 1584 c.1544C>T c.(1543-1545)tCc>tTc p.S515F TRPM8_ENST00000433712.2_Missense_Mutation_p.S203F NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 515 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GCCAAGAATTCCTATAATGAT 0.498000 37 71 0 0 0.006999 0 0 PARP4 143 broad.mit.edu 37 13 25021321 25021321 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:25021321C>T ENST00000381989.3 - 26 3223 c.3118G>A c.(3118-3120)Gaa>Aaa p.E1040K NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1040 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATTTGGTCTTCTATCTATTTA 0.418000 6 54 0 0 0.006214 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481214 95481214 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:95481214G>A ENST00000432432.2 - 0 2146 NR_040113.1 TTGTCTTACGGAACTTATCTT 0.323000 22 55 0 0 0.003330 0 0 SLC7A14 57709 broad.mit.edu 37 3 170219102 170219102 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:170219102G>A ENST00000231706.4 - 3 652 c.337C>T c.(337-339)Ccc>Tcc p.P113S CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 113 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GTGGTCTTGGGGACTCGAACT 0.507000 28 51 0 0 0.008361 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958442 143958442 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:143958442C>T ENST00000292427.4 - 3 624 c.592G>A c.(592-594)Gaa>Aaa p.E198K CYP11B1_ENST00000377675.3_Missense_Mutation_p.E269K|CYP11B1_ENST00000517471.1_Missense_Mutation_p.E198K NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 198 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) CCCACACCTTCTATGGTGTAG 0.652000 Familial Hyperaldosteronism type I 4 31 0 0 0.001168 0 0 DCLK3 85443 broad.mit.edu 37 3 36779265 36779265 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:36779265C>T ENST00000416516.2 - 2 1376 c.886G>A c.(886-888)Gag>Aag p.E296K NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 296 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 TTCTCTGCCTCCTTCTCTTCT 0.567000 142 196 0 0 0.014410 0 0 LRP1B 53353 broad.mit.edu 37 2 141110581 141110581 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141110581G>A ENST00000389484.3 - 76 12562 c.11591C>T c.(11590-11592)tCa>tTa p.S3864L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3864 EGF-like 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) ACATTTATATGATCCTTCCAC 0.343000 TSP Lung(27;0.18) 14 48 0 0 0.003163 0 0 SGMS1 259230 broad.mit.edu 37 10 52103296 52103296 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:52103296G>A ENST00000361781.2 - 7 1538 c.579C>T c.(577-579)atC>atT p.I193I SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Silent_p.I193I NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 199 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 GTCCTACAAGGATCATGCCAT 0.408000 21 40 0 0 0.014323 0 0 PCLO 27445 broad.mit.edu 37 7 82544594 82544594 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:82544594G>A ENST00000423517.2 - 7 13045 c.12708C>T c.(12706-12708)ctC>ctT p.L4236L PCLO_ENST00000333891.8_Silent_p.L4236L|PCLO_ENST00000437081.1_Silent_p.L956L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4167 Ser-rich. 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 CATCTTGAAGGAGCCTTGCCC 0.398000 12 26 0 0 0.001855 0 0 TXNL4B 54957 broad.mit.edu 37 16 72123027 72123027 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:72123027G>A ENST00000268483.3 - 3 464 c.143C>T c.(142-144)aCc>aTc p.T48I TXNL4B_ENST00000426362.2_Missense_Mutation_p.T48I|TXNL4B_ENST00000423037.1_Missense_Mutation_p.T48I NM_001142318.1|NM_017853.2 NP_001135790.1|NP_060323.1 Q9NX01 TXN4B_HUMAN thioredoxin-like 4B 48 mitosis|mRNA processing|RNA splicing spliceosomal complex cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2) 8 GTCAGAAGAGGTCTTAGAAAG 0.368000 34 57 0 0 0.013726 0 0 DNAH5 1767 broad.mit.edu 37 5 13759062 13759062 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13759062G>A ENST00000265104.4 - 61 10416 c.10312C>T c.(10312-10314)Ctc>Ttc p.L3438F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3438 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGGCCAGGAGATGGCGATTC 0.547000 Kartagener syndrome 51 110 0 0 0.014410 0 0 HABP2 3026 broad.mit.edu 37 10 115337790 115337790 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:115337790C>T ENST00000351270.3 + 6 550 c.454C>T c.(454-456)Cct>Tct p.P152S HABP2_ENST00000537906.1_Silent_p.F140F|HABP2_ENST00000541666.1_Missense_Mutation_p.P152S|HABP2_ENST00000542051.1_Missense_Mutation_p.P126S NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 152 EGF-like 3. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CACAGTGGTTCCTGTATGCAG 0.557000 50 68 0 0 0.014410 0 0 ABCA13 154664 broad.mit.edu 37 7 48443435 48443435 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:48443435C>T ENST00000435803.1 + 39 12053 c.12029C>T c.(12028-12030)tCc>tTc p.S4010F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4010 ABC transporter 1. 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 GACCCTTGCTCCCGGCATAGC 0.557000 8 16 0 0 0.006214 0 0 SPEM1 374768 broad.mit.edu 37 17 7324589 7324589 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7324589G>A ENST00000323675.3 + 3 620 c.595G>A c.(595-597)Ggc>Agc p.G199S RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 199 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane p.G199S(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GTCCGAGCTGGGCCTAAGGGC 0.637000 37 62 0 0 0.007835 0 0 CTNND2 1501 broad.mit.edu 37 5 11098815 11098815 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:11098815C>T ENST00000304623.8 - 15 2698 c.2509G>A c.(2509-2511)Ggg>Agg p.G837R CTNND2_ENST00000458100.2_Missense_Mutation_p.G404R|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G500R|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000511377.1_Missense_Mutation_p.G746R NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 837 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 ATCTGGATCCCTTTTGGTGGT 0.517000 25 69 0 0 0.004656 0 0 PAX8 7849 broad.mit.edu 37 2 114004339 114004339 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:114004339G>A ENST00000429538.3 - 3 377 c.183C>T c.(181-183)atC>atT p.I61I PAX8_ENST00000263334.5_Silent_p.I61I|PAX8_ENST00000348715.5_Silent_p.I61I|PAX8_ENST00000263335.7_Silent_p.I61I|PAX8_ENST00000397647.3_Silent_p.I61I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000445745.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 61 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 ACCTGCCAAGGATCTTGCTGA 0.622000 T PPARG follicular thyroid Thyroid dysgenesis 41 119 0 0 0.014410 0 0 OR52E6 390078 broad.mit.edu 37 11 5862892 5862892 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5862892G>A ENST00000329322.5 - 1 235 c.236C>T c.(235-237)aCc>aTc p.T79I TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.T83I NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTGGGAATGGTGGCCGTAGA 0.453000 27 65 0 0 0.005443 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509755 171509755 + Silent SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:171509755A>T ENST00000367742.3 + 16 3392 c.3150A>T c.(3148-3150)gtA>gtT p.V1050V PRRC2C_ENST00000338920.4_Silent_p.V1048V|PRRC2C_ENST00000426496.2_Silent_p.V1048V|PRRC2C_ENST00000392078.3_Silent_p.V1050V Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1048 protein C-terminus binding AAGTAGTTGTAAAGCCTGAAA 0.463000 14 80 0 0 0.004007 0 0 SLC7A2 6542 broad.mit.edu 37 8 17407823 17407823 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:17407823G>A ENST00000470360.1 + 7 949 c.832G>A c.(832-834)Gaa>Aaa p.E278K SLC7A2_ENST00000494857.1_Missense_Mutation_p.E238K|SLC7A2_ENST00000004531.10_Missense_Mutation_p.E278K|SLC7A2_ENST00000398090.3_Missense_Mutation_p.E278K|SLC7A2_ENST00000522656.1_Missense_Mutation_p.E238K P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 238 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) GCCACCTTCTGAAAACGGAAC 0.443000 13 51 0 0 0.003163 0 0 DGKK 139189 broad.mit.edu 37 X 50134468 50134468 + RNA SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:50134468C>A ENST00000376025.2 - 0 1870 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CTGCTCCACTCTGTTGAGGAT 0.527000 54 69 7.50695e-29 7.69098e-29 0.014410 1 0 TTN 7273 broad.mit.edu 37 2 179613913 179613913 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179613913G>A ENST00000360870.5 - 46 13436 c.13214C>T c.(13213-13215)tCa>tTa p.S4405L TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 535 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCTTTTCTGATCTACCAAG 0.338000 11 27 0 0 0.010729 0 0 KALRN 8997 broad.mit.edu 37 3 124153367 124153367 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:124153367G>A ENST00000360013.3 + 17 3164 c.3037G>A c.(3037-3039)Gaa>Aaa p.E1013K KALRN_ENST00000460856.1_Missense_Mutation_p.E1004K|KALRN_ENST00000240874.3_Missense_Mutation_p.E1013K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1013 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 CAAAACTTCTGAACAGGTGAG 0.517000 14 54 0 0 0.001855 0 0 RPTN 126638 broad.mit.edu 37 1 152127615 152127615 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152127615C>T ENST00000316073.3 - 3 2024 c.1960G>A c.(1960-1962)Gat>Aat p.D654N NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 654 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGTTGGCTATCCTCTTCAGGC 0.507000 44 123 0 0 0.010771 0 0 NLRP4 147945 broad.mit.edu 37 19 56373427 56373427 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56373427G>A ENST00000301295.6 + 5 2510 c.2088G>A c.(2086-2088)ttG>ttA p.L696L NLRP4_ENST00000346986.5_Silent_p.L696L|NLRP4_ENST00000587891.1_Silent_p.L621L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 696 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGCCAGACTTGAAATACCTGA 0.443000 41 47 0 0 0.007835 0 0 FAM3D 131177 broad.mit.edu 37 3 58639463 58639463 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:58639463C>T ENST00000358781.2 - 3 369 c.59G>A c.(58-60)tGg>tAg p.W20* NM_138805.2 NP_620160.1 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 20 negative regulation of insulin secretion extracellular region cytokine activity large_intestine(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) AATAAACATCCATGTCGTGAC 0.567000 59 242 0 0 0.014410 0 0 SELP 6403 broad.mit.edu 37 1 169578884 169578884 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:169578884C>T ENST00000263686.6 - 8 1228 c.1191G>A c.(1189-1191)atG>atA p.M397I SELP_ENST00000367786.2_Missense_Mutation_p.M335I|SELP_ENST00000458599.2_Missense_Mutation_p.M335I|SELP_ENST00000367792.2_Missense_Mutation_p.M335I|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.M335I|SELP_ENST00000367788.2_Missense_Mutation_p.M335I|SELP_ENST00000367793.2_Missense_Mutation_p.M335I NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 397 Sushi 4. 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) GAGAGCAATCCATGCTTCCGT 0.507000 14 39 0 0 0.003163 0 0 CRMP1 1400 broad.mit.edu 37 4 5851179 5851179 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:5851179G>A ENST00000324989.7 - 6 991 c.903C>T c.(901-903)ttC>ttT p.F301F CRMP1_ENST00000397890.2_Silent_p.F187F|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.F185F NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 187 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) GGCCCTTAAGGAAGGTAAAGG 0.433000 35 54 0 0 0.006230 0 0 PHEX 5251 broad.mit.edu 37 X 22129679 22129679 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:22129679G>A ENST00000379374.4 + 10 1738 c.e10+1 PHEX_ENST00000535894.1_Splice_Site|PHEX_ENST00000537599.1_Splice_Site|PHEX_ENST00000418858.3_Splice_Site NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 ATTCTCAAGGGTAAGTTTAAG 0.383000 59 90 0 0 0.014410 0 0 OR5H1 26341 broad.mit.edu 37 3 97852004 97852004 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:97852004C>T ENST00000354565.2 + 1 463 c.463C>T c.(463-465)Cat>Tat p.H155Y RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 TGGTATTCTTCATGCTTTAAT 0.373000 10 46 0 0 0.001855 0 0 PDE4C 5143 broad.mit.edu 37 19 18328995 18328995 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:18328995G>A ENST00000355502.3 - 15 2165 c.1294C>T c.(1294-1296)Cat>Tat p.H432Y PDE4C_ENST00000539010.1_Missense_Mutation_p.H201Y|PDE4C_ENST00000594617.2_Missense_Mutation_p.H432Y|PDE4C_ENST00000447275.2_Missense_Mutation_p.H326Y|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.H432Y|PDE4C_ENST00000262805.11_Missense_Mutation_p.H400Y Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 432 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.H432N(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) ACCCCAGGATGGTCCACGTCG 0.597000 130 155 0 0 0.014410 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960860 143960860 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:143960860C>T ENST00000377675.3 - 2 282 c.276G>A c.(274-276)agG>agA p.R92R CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 80 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) GTGCTGCACTCCTTCCCCATC 0.642000 Familial Hyperaldosteronism type I 20 65 0 0 0.007413 0 0 ZDHHC13 54503 broad.mit.edu 37 11 19169202 19169202 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:19169202C>T ENST00000446113.2 + 4 477 c.356C>T c.(355-357)cCt>cTt p.P119L ZDHHC13_ENST00000399351.3_5'UTR NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 119 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 AATTCAACTCCTCTTCACTGG 0.348000 5 10 0 0 0.003080 0 0 ZNF516 9658 broad.mit.edu 37 18 74091181 74091181 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:74091181G>A ENST00000443185.2 - 4 3206 c.2889C>T c.(2887-2889)gcC>gcT p.A963A ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 963 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) TATTTGTGGGGGCAAAGCCAG 0.662000 35 63 0 0 0.006999 0 0 TACC3 10460 broad.mit.edu 37 4 1742580 1742580 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:1742580C>T ENST00000313288.4 + 13 2196 c.2090C>T c.(2089-2091)tCc>tTc p.S697F NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 697 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AAGGAACTTTCCAAAGCTGAA 0.453000 33 122 0 0 0.013726 0 0 MARCH5 54708 broad.mit.edu 37 10 94109449 94109449 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:94109449G>A ENST00000358935.2 + 5 907 c.575G>A c.(574-576)cGa>cAa p.R192Q MARCH5_ENST00000467521.2_3'UTR NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 192 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CCTGTTCCTCGAATTCCAGCT 0.413000 154 202 0 0 0.014410 0 0 PMPCA 23203 broad.mit.edu 37 9 139310781 139310781 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:139310781G>A ENST00000371717.3 + 6 580 c.571G>A c.(571-573)Gag>Aag p.E191K PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.E60K NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 191 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GGTCCAGTTTGAGCTGGAGGA 0.542000 42 122 0 0 0.014410 0 0 ITPR1 3708 broad.mit.edu 37 3 4725190 4725190 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:4725190C>T ENST00000302640.8 + 26 3587 c.3237C>T c.(3235-3237)ttC>ttT p.F1079F ITPR1_ENST00000357086.4_Silent_p.F1085F|ITPR1_ENST00000456211.2_Silent_p.F1070F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.F1079F|ITPR1_ENST00000423119.2_Silent_p.F1085F|ITPR1_ENST00000354582.6_Silent_p.F1094F NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1094 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGCTCCTCTTCCGGCACTTCA 0.592000 90 109 0 0 0.014410 0 0 LTBP1 4052 broad.mit.edu 37 2 33246227 33246227 + Missense_Mutation SNP C C T rs142311728 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:33246227C>T ENST00000404816.2 + 3 1170 c.817C>T c.(817-819)Ctc>Ttc p.L273F LTBP1_ENST00000354476.3_Missense_Mutation_p.L273F Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 273 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) GACCTTAACCCTCAAGCCGAA 0.493000 45 113 0 0 0.014410 0 0 KIF4B 285643 broad.mit.edu 37 5 154395876 154395876 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:154395876G>A ENST00000435029.4 + 1 2617 c.2457G>A c.(2455-2457)caG>caA p.Q819Q NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 819 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTACAAAACAGATTGAAAGCC 0.443000 19 31 0 0 0.007413 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297777 139297777 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:139297777C>T ENST00000406164.1 - 4 682 c.119G>A c.(118-120)tGg>tAg p.W40* NMNAT3_ENST00000339837.5_Nonsense_Mutation_p.W40*|NMNAT3_ENST00000296202.7_Nonsense_Mutation_p.W77*|NMNAT3_ENST00000507242.1_5'UTR|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000511444.1_Nonsense_Mutation_p.W40*|NMNAT3_ENST00000406824.1_5'UTR|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000512391.1_Nonsense_Mutation_p.W77* Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 77 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 CACCCGGATCCAGTCGGATGT 0.582000 15 72 0 0 0.007413 0 0 FAM181A 90050 broad.mit.edu 37 14 94395286 94395286 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94395286C>T ENST00000267594.5 + 3 1148 c.841C>T c.(841-843)Cat>Tat p.H281Y FAM181A_ENST00000557719.1_Missense_Mutation_p.H219Y|FAM181A_ENST00000557000.2_Missense_Mutation_p.H219Y|FAM181A_ENST00000556222.1_Missense_Mutation_p.H219Y NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 281 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 CTTCCAGTACCATGGACAGCC 0.647000 18 51 0 0 0.004990 0 0 SGSM1 129049 broad.mit.edu 37 22 25320226 25320226 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:25320226G>A ENST00000400358.4 + 25 3324 c.3267G>A c.(3265-3267)ctG>ctA p.L1089L SGSM1_ENST00000400359.4_Silent_p.L1144L NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 1144 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 TGCAGACTCTGATTGAGAACA 0.572000 24 52 0 0 0.003330 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45945705 45945705 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:45945705G>A ENST00000531526.1 + 4 480 c.368_splice c.e4-1 p.R123_splice GYLTL1B_ENST00000536139.1_Splice_Site_p.R92_splice|GYLTL1B_ENST00000401752.1_Splice_Site_p.R123_splice|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000325468.5_Splice_Site_p.R123_splice|GYLTL1B_ENST00000529052.1_Splice_Site_p.R92_splice NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 123 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) CACCCAAAAGGAAAAATCCAC 0.597000 30 133 0 0 0.010818 0 0 PER3 8863 broad.mit.edu 37 1 7890145 7890145 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:7890145C>T ENST00000377532.3 + 18 3362 c.3138C>T c.(3136-3138)tcC>tcT p.S1046S PER3_ENST00000361923.2_Silent_p.S1037S P56645 PER3_HUMAN period circadian clock 3 1037 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GGACTCCATCCCATCCTACTG 0.567000 40 102 0 0 0.006999 0 0 NEB 4703 broad.mit.edu 37 2 152506743 152506743 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:152506743G>A ENST00000397345.3 - 54 7580 c.7378C>T c.(7378-7380)Cct>Tct p.P2460S NEB_ENST00000172853.10_Missense_Mutation_p.P2460S|NEB_ENST00000427231.2_Missense_Mutation_p.P2460S|NEB_ENST00000604864.1_Missense_Mutation_p.P2460S|NEB_ENST00000603639.1_Missense_Mutation_p.P2460S|NEB_ENST00000409198.1_Missense_Mutation_p.P2460S NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2460 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) ATGGCATCAGGAATGCTGGTG 0.428000 20 42 0 0 0.014323 0 0 IDO2 169355 broad.mit.edu 37 8 39806702 39806702 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:39806702G>A ENST00000502986.2 + 2 299 c.57G>A c.(55-57)ccG>ccA p.P19P IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.P6P|RP11-44K6.3_ENST00000517623.1_RNA NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 6 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CCCACAGACCGAATGTGAAGA 0.408000 8 11 0 0 0.006214 0 0 EDEM1 9695 broad.mit.edu 37 3 5249907 5249907 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:5249907C>T ENST00000256497.4 + 8 1601 c.1468C>T c.(1468-1470)Ctg>Ttg p.L490L EDEM1_ENST00000445686.1_Silent_p.L295L NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 490 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) CTTCTACCCACTGAGACCAGA 0.488000 40 158 0 0 0.006230 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122421 153122421 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:153122421G>A ENST00000368748.4 - 2 204 c.166C>T c.(166-168)Cct>Tct p.P56S NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 56 keratinization cornified envelope|cytoplasm endometrium(1)|lung(1)|skin(1) 3 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCACAGGAGGGCATTTATCC 0.547000 41 92 0 0 0.008740 0 0 COLEC10 10584 broad.mit.edu 37 8 120118157 120118157 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:120118157G>A ENST00000332843.2 + 6 602 c.561G>A c.(559-561)aaG>aaA p.K187K NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 187 C-type lectin. collagen|cytoplasm mannose binding endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CCATGCCCAAGGATGAAGCTG 0.493000 10 32 0 0 0.006214 0 0 TIE1 7075 broad.mit.edu 37 1 43778085 43778085 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:43778085C>T ENST00000372476.3 + 12 1819 c.1740C>T c.(1738-1740)ttC>ttT p.F580F TIE1_ENST00000433781.2_Silent_p.F225F NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 580 Fibronectin type-III 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCGACGGTTTCCTGCTGCGCC 0.701000 34 79 0 0 0.004289 0 0 PCED1B 91523 broad.mit.edu 37 12 47629093 47629093 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:47629093C>G ENST00000546455.1 + 4 978 c.247C>G c.(247-249)Cgc>Ggc p.R83G PCED1B_ENST00000432328.1_Missense_Mutation_p.R83G PC-esterase domain containing 1B CCGCGAGTTCCGCTCCGACCA 0.597000 45 154 0 0 0.013114 0 0 A1CF 29974 broad.mit.edu 37 10 52573735 52573735 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:52573735C>T ENST00000395489.2 - 12 1604 c.1208G>A c.(1207-1209)gGa>gAa p.G403E A1CF_ENST00000373997.3_Missense_Mutation_p.G402E|A1CF_ENST00000373995.3_Missense_Mutation_p.G410E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.G355E|A1CF_ENST00000282641.2_Missense_Mutation_p.G410E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.G410E|A1CF_ENST00000374001.1_Missense_Mutation_p.G402E NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 410 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GACCTGGTATCCTCGACCCAG 0.493000 25 35 0 0 0.003330 0 0 PSG4 5672 broad.mit.edu 37 19 43709640 43709640 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:43709640C>T ENST00000405312.3 - 1 286 c.49G>A c.(49-51)Ggg>Agg p.G17R PSG4_ENST00000433626.2_Missense_Mutation_p.G17R|PSG4_ENST00000244295.9_Missense_Mutation_p.G17R NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 17 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) AGCAGGACCCCCTTCCAGGTG 0.587000 39 46 0 0 0.014410 0 0 HLA-C 3107 broad.mit.edu 37 6 31239616 31239616 + Missense_Mutation SNP C C A rs150810080 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31239616C>A ENST00000383329.3 - 2 117 c.103G>T c.(103-105)Gcc>Tcc p.A35S HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 35 Alpha-1. 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 membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CGGGACACGGCGGTGTCGAAA 0.721000 5 80 0.000602214 0.000610408 0.000602 1 0 SREBF1 6720 broad.mit.edu 37 17 17719285 17719285 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:17719285G>A ENST00000355815.4 - 13 2531 c.2362C>T c.(2362-2364)Cct>Tct p.P788S SREBF1_ENST00000261646.5_Missense_Mutation_p.P758S|SREBF1_ENST00000338854.5_Missense_Mutation_p.P758S|SREBF1_ENST00000395757.1_Missense_Mutation_p.P504S NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 758 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 TGCATGGCAGGAGGCACTGAG 0.647000 35 53 0 0 0.004289 0 0 PTPRC 5788 broad.mit.edu 37 1 198701611 198701611 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:198701611G>A ENST00000367376.2 + 20 2233 c.2062G>A c.(2062-2064)Gat>Aat p.D688N PTPRC_ENST00000348564.6_Missense_Mutation_p.D529N|PTPRC_ENST00000352140.3_Missense_Mutation_p.D640N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D527N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D690N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 688 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTAAACAGATGATTATAACCG 0.318000 4 10 0 0 0.009096 0 0 KRT3 3850 broad.mit.edu 37 12 53189737 53189737 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:53189737G>A ENST00000417996.2 - 1 164 c.90C>T c.(88-90)agC>agT p.S30S KRT3_ENST00000309505.3_Silent_p.S30S NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 30 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GGGCCACACAGCTCATCCTGC 0.647000 38 100 0 0 0.003755 0 0 F5 2153 broad.mit.edu 37 1 169519046 169519046 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:169519046C>T ENST00000367796.3 - 10 1805 c.1604G>A c.(1603-1605)gGa>gAa p.G535E F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Missense_Mutation_p.G535E P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 535 F5/8 type A 2. Cleavage; by activated protein C. 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) TACCTGTATTCCTTGCCTGTC 0.433000 19 45 0 0 0.007413 0 0 SORL1 6653 broad.mit.edu 37 11 121414296 121414296 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:121414296C>T ENST00000260197.7 + 13 1854 c.1725C>T c.(1723-1725)atC>atT p.I575I SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 575 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) AAACATTCATCTTCTCTGAGA 0.463000 46 66 0 0 0.013114 0 0 OR6C3 254786 broad.mit.edu 37 12 55725661 55725661 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:55725661C>T ENST00000379667.1 + 1 177 c.177C>T c.(175-177)ttC>ttT p.F59F NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TGTATTTCTTCCTCCGGAACT 0.383000 37 127 0 0 0.007835 0 0 GUCY2C 2984 broad.mit.edu 37 12 14778764 14778764 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:14778764C>T ENST00000261170.3 - 21 2471 c.2335G>A c.(2335-2337)Gta>Ata p.V779I NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 779 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 CTTTCCTCTACCAGATGTTCC 0.438000 42 95 0 0 0.013114 0 0 MYO18B 84700 broad.mit.edu 37 22 26348303 26348303 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:26348303C>T ENST00000335473.7 + 38 6134 c.5884C>T c.(5884-5886)Cga>Tga p.R1962* MYO18B_ENST00000407587.2_Nonsense_Mutation_p.R1963*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.R1962* NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1962 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 CACCGTGGATCGAGCCATCGT 0.507000 8 21 0 0 0.003080 0 0 MARC1 64757 broad.mit.edu 37 1 220964850 220964850 + Missense_Mutation SNP A A G rs149405266 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:220964850A>G ENST00000366910.5 + 2 479 c.293A>G c.(292-294)aAc>aGc p.N98S NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 98 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CTTGTGATCAACCAGGAGGGA 0.517000 21 78 0 0 0.002780 0 0 INADL 10207 broad.mit.edu 37 1 62330129 62330129 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:62330129G>A ENST00000371158.2 + 20 2773 c.2659G>A c.(2659-2661)Gag>Aag p.E887K INADL_ENST00000316485.6_Missense_Mutation_p.E887K NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 887 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 ACCATCCATGGAGTTGTATCC 0.423000 44 111 0 0 0.011902 0 0 EXOC4 60412 broad.mit.edu 37 7 133160140 133160140 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:133160140C>T ENST00000253861.4 + 8 1270 c.1241C>T c.(1240-1242)gCt>gTt p.A414V EXOC4_ENST00000393161.2_Missense_Mutation_p.A414V|EXOC4_ENST00000539845.1_Missense_Mutation_p.A313V NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 414 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GAACCATCAGCTCAACTAAGC 0.368000 37 117 0 0 0.006999 0 0 PTPRJ 5795 broad.mit.edu 37 11 48185152 48185152 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:48185152C>T ENST00000418331.2 + 23 4053 c.3701C>T c.(3700-3702)cCg>cTg p.P1234L NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 1234 Tyrosine-protein phosphatase. P -> E (in Ref. 5; no nucleotide entry). 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 CCCGAATCGCCGATTCTGGTG 0.493000 12 49 0 0 0.013537 0 0 GTF3C1 2975 broad.mit.edu 37 16 27483215 27483215 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:27483215C>T ENST00000356183.4 - 30 4395 c.4380G>A c.(4378-4380)aaG>aaA p.K1460K GTF3C1_ENST00000561623.1_Silent_p.K1460K NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1460 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 GAACGTGGTCCTTGTACTCCC 0.632000 30 54 0 0 0.013726 0 0 COL27A1 85301 broad.mit.edu 37 9 117063353 117063353 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:117063353G>A ENST00000356083.3 + 52 5094 c.4701_splice c.e52-1 p.G1568_splice NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1568 Collagen-like 16.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTCCTTTAGGGAAAGGAAGGC 0.632000 29 96 0 0 0.010818 0 0 PKN2 5586 broad.mit.edu 37 1 89237436 89237436 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:89237436C>T ENST00000370521.3 + 6 1218 c.859C>T c.(859-861)Ccc>Tcc p.P287S PKN2_ENST00000370513.5_Missense_Mutation_p.P287S|PKN2_ENST00000370505.3_Missense_Mutation_p.P130S|PKN2_ENST00000316005.7_Missense_Mutation_p.P287S NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 287 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) CAAGAATCATCCCAAAAGCAG 0.368000 36 166 0 0 0.006230 0 0 CDH18 1016 broad.mit.edu 37 5 19591224 19591224 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:19591224C>T ENST00000507958.1 - 9 1931 c.941G>A c.(940-942)gGa>gAa p.G314E CDH18_ENST00000382275.1_Missense_Mutation_p.G314E|CDH18_ENST00000502796.1_Missense_Mutation_p.G314E|CDH18_ENST00000506372.1_Missense_Mutation_p.G314E|CDH18_ENST00000274170.4_Missense_Mutation_p.G314E|CDH18_ENST00000511273.1_Missense_Mutation_p.G314E Q13634 CAD18_HUMAN cadherin 18, type 2 314 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGAGAATATTCCCATGCCATC 0.408000 22 52 0 0 0.014323 0 0 CCDC60 160777 broad.mit.edu 37 12 119942974 119942974 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:119942974C>T ENST00000327554.2 + 7 1214 c.749C>T c.(748-750)cCc>cTc p.P250L RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 250 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) GGGTCCTCTCCCCAGAGCAGC 0.562000 51 132 0 0 0.014410 0 0 MOV10L1 54456 broad.mit.edu 37 22 50589166 50589166 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:50589166C>T ENST00000262794.5 + 21 2813 c.2730C>T c.(2728-2730)atC>atT p.I910I MOV10L1_ENST00000395858.3_Silent_p.I910I|MOV10L1_ENST00000540615.1_Silent_p.I890I|MOV10L1_ENST00000545383.1_Silent_p.I910I|MOV10L1_ENST00000354853.2_Intron|MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395852.1_Silent_p.I37I NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 910 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.I910I(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTGTGCAGATCGTGCTGGCAG 0.622000 20 33 0 0 0.010504 0 0 FBLIM1 54751 broad.mit.edu 37 1 16101188 16101188 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:16101188C>T ENST00000375766.3 + 7 1427 c.787C>T c.(787-789)Cac>Tac p.H263Y FBLIM1_ENST00000332305.5_Missense_Mutation_p.H166Y|FBLIM1_ENST00000375771.1_Missense_Mutation_p.H263Y|FBLIM1_ENST00000400773.1_Missense_Mutation_p.H166Y|FBLIM1_ENST00000441801.2_Missense_Mutation_p.H263Y NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 263 LIM zinc-binding 2. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CCAGGCCTTCCACCCCTCCTG 0.632000 78 169 0 0 0.014410 0 0 NT5C2 22978 broad.mit.edu 37 10 104899169 104899169 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:104899169G>A ENST00000343289.5 - 3 256 c.169C>T c.(169-171)Ctt>Ttt p.L57F NT5C2_ENST00000404739.3_Missense_Mutation_p.L57F|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000470299.1_Intron|NT5C2_ENST00000423468.2_Missense_Mutation_p.L28F NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 57 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) TCACCAGCAAGGGTATAATCC 0.343000 3 6 0 0 0.004672 0 0 SRRM2 23524 broad.mit.edu 37 16 2813884 2813884 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:2813884G>A ENST00000301740.8 + 11 3904 c.3355G>A c.(3355-3357)Ggt>Agt p.G1119S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1119 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 ACAAGATAGAGGTGAGTTCTC 0.478000 73 137 0 0 0.014410 0 0 ASB15 142685 broad.mit.edu 37 7 123277008 123277008 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:123277008C>T ENST00000451558.1 + 14 2261 c.1740C>T c.(1738-1740)ctC>ctT p.L580L ASB15_ENST00000275699.3_Silent_p.L580L|ASB15_ENST00000434204.1_Silent_p.L580L|ASB15_ENST00000451215.1_Silent_p.L580L|ASB15_ENST00000540573.1_Silent_p.L580L Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 580 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGTATGATCTCTATGGACAAG 0.343000 26 73 0 0 0.004656 0 0 BAGE2 85319 broad.mit.edu 37 21 11039138 11039138 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:11039138G>A ENST00000470054.1 - 0 1065 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) AGGACATAATGAAGTGCTTTC 0.403000 14 335 0 0 0.003163 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599283 136599283 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:136599283G>A ENST00000531224.1 - 4 988 c.736C>T c.(736-738)Ccc>Tcc p.P246S BCLAF1_ENST00000527759.1_Missense_Mutation_p.P244S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P244S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P246S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P246S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P244S NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 246 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) CTGAGCATGGGAGCATCAGAG 0.453000 8 79 0 0 0.003080 0 0 SCAMP5 192683 broad.mit.edu 37 15 75309050 75309050 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:75309050T>G ENST00000361900.6 + 5 460 c.253T>G c.(253-255)Tcc>Gcc p.S85A SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000562212.1_Missense_Mutation_p.S85A|SCAMP5_ENST00000425597.3_Missense_Mutation_p.S85A NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 85 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 CACACCCTGCTCCTACGTCTG 0.602000 41 138 0 0 0.014410 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200818995 200818995 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:200818995C>T ENST00000358823.2 + 11 3368 c.3098C>T c.(3097-3099)tCc>tTc p.S1033F CAMSAP2_ENST00000236925.4_Missense_Mutation_p.S1044F|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S1017F NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1044 cytoplasm|microtubule protein binding TTAAAGGAATCCAAACCTAAA 0.403000 30 114 0 0 0.010818 0 0 SSFA2 6744 broad.mit.edu 37 2 182765545 182765545 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:182765545C>T ENST00000431877.2 + 7 805 c.626C>T c.(625-627)tCc>tTc p.S209F SSFA2_ENST00000428267.2_Missense_Mutation_p.S56F|SSFA2_ENST00000409001.1_Missense_Mutation_p.S209F|SSFA2_ENST00000320370.7_Missense_Mutation_p.S209F NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 209 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AATTCATCATCCTTTGCCAAA 0.323000 17 39 0 0 0.006122 0 0 CASQ1 844 broad.mit.edu 37 1 160168515 160168515 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:160168515G>A ENST00000368079.3 + 8 1134 c.859G>A c.(859-861)Gat>Aat p.D287N CASQ1_ENST00000467691.1_Missense_Mutation_p.D14N|CASQ1_ENST00000368078.3_Missense_Mutation_p.D293N NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 293 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGAGGAAGCTGATCCTGGTGA 0.537000 70 137 0 0 0.014410 0 0 ARSA 410 broad.mit.edu 37 22 51063591 51063591 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:51063591G>A ENST00000547307.1 - 8 1911 c.1506C>T c.(1504-1506)tgC>tgT p.C502C ARSA_ENST00000453344.2_Silent_p.C418C|ARSA_ENST00000547805.1_Silent_p.C502C|ARSA_ENST00000395621.3_Silent_p.C504C|ARSA_ENST00000395619.3_Silent_p.C504C|ARSA_ENST00000356098.5_Silent_p.C504C|ARSA_ENST00000216124.5_Silent_p.C504C P15289 ARSA_HUMAN arylsulfatase A 502 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) Micafungin(DB01141) GGGGATCTGGGCAATGGCAGC 0.692000 12 20 0 0 0.013537 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182649 140182649 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140182649C>T ENST00000522353.2 + 1 1867 c.1867C>T c.(1867-1869)Cgc>Tgc p.R623C PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R623C|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCCGTTTCGCGTGGGGCT 0.662000 48 74 0 0 0.014410 0 0 COL9A3 1299 broad.mit.edu 37 20 61467656 61467656 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:61467656C>T ENST00000343916.3 + 28 1522 c.1519C>T c.(1519-1521)Cct>Tct p.P507S COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 507 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) CCCGGGTGTTCCTGGCATCAC 0.637000 35 95 0 0 0.008740 0 0 ASXL3 80816 broad.mit.edu 37 18 31319566 31319566 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:31319566C>T ENST00000269197.5 + 11 2198 c.2198C>T c.(2197-2199)tCc>tTc p.S733F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 733 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCAGTGTCTTCCATGCTTCTC 0.403000 143 175 0 0 0.014410 0 0 OGFOD3 79701 broad.mit.edu 37 17 80350308 80350308 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:80350308G>A ENST00000313056.5 - 9 1077 c.926C>T c.(925-927)cCc>cTc p.P309L OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 GCCATGGTCGGGGTTGCAGCT 0.662000 10 35 0 0 0.013537 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681805 69681805 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:69681805G>A ENST00000265403.7 + 1 95 c.68G>A c.(67-69)gGa>gAa p.G23E UGT2B10_ENST00000458688.2_Missense_Mutation_p.G23E NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 23 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GGGAGTTGTGGAAAGGTGCTG 0.438000 17 68 0 0 0.006122 0 0 KALRN 8997 broad.mit.edu 37 3 124376396 124376396 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:124376396G>T ENST00000360013.3 + 40 6088 c.5961G>T c.(5959-5961)aaG>aaT p.K1987N KALRN_ENST00000393496.1_Missense_Mutation_p.K328N|KALRN_ENST00000291478.4_Missense_Mutation_p.K290N|KALRN_ENST00000459915.1_Missense_Mutation_p.K79N|KALRN_ENST00000428018.2_Missense_Mutation_p.K258N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1986 DH 2. 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 ACTGGCATAAGGAGTAAGTGT 0.468000 40 70 2.2871e-25 2.34246e-25 0.007835 1 0 CD4 920 broad.mit.edu 37 12 6923361 6923361 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:6923361G>A ENST00000011653.4 + 4 526 c.268G>A c.(268-270)Gga>Aga p.G90R CD4_ENST00000541982.1_Missense_Mutation_p.G35R|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 90 Ig-like V-type. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) TTGGGACCAAGGAAACTTTCC 0.498000 42 157 0 0 0.011902 0 0 THBS1 7057 broad.mit.edu 37 15 39881440 39881440 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:39881440G>A ENST00000260356.5 + 12 1976 c.1811G>A c.(1810-1812)gGa>gAa p.G604E NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 604 EGF-like 2; calcium-binding (Potential). 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) AACCACAATGGAGAGCACCGG 0.572000 86 181 0 0 0.014410 0 0 EPHB1 2047 broad.mit.edu 37 3 134920399 134920399 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:134920399G>A ENST00000398015.3 + 12 2584 c.2214G>A c.(2212-2214)atG>atA p.M738I EPHB1_ENST00000493838.1_Missense_Mutation_p.M299I NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 738 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGCTGAGATGAATTATGTGC 0.527000 103 155 0 0 0.014410 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963843 73963843 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:73963843C>T ENST00000373468.1 - 3 1200 c.549G>A c.(547-549)ggG>ggA p.G183G KIAA2022_ENST00000055682.5_Silent_p.G183G Q5QGS0 K2022_HUMAN KIAA2022 183 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.G183G(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 TACACTGAATCCCTATATCAG 0.458000 21 33 0 0 0.008871 0 0 MYH7B 57644 broad.mit.edu 37 20 33567524 33567524 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:33567524G>A ENST00000262873.7 + 5 477 c.385G>A c.(385-387)Gag>Aag p.E129K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 87 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CGACTTACTGGAGGACATGGC 0.647000 45 96 0 0 0.011902 0 0 SVEP1 79987 broad.mit.edu 37 9 113241922 113241922 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113241922C>T ENST00000401783.2 - 13 2816 c.2480G>A c.(2479-2481)gGa>gAa p.G827E SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G827E|SVEP1_ENST00000374461.1_Missense_Mutation_p.G804E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G804E NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 827 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TACCATTTTTCCCAGGGTCGT 0.388000 69 187 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10114821 10114821 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:10114821C>T ENST00000264828.3 - 5 680 c.594_splice c.e5-1 p.G199_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 199 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TGAATGTCTCCCTGGGGGTTG 0.622000 26 80 0 0 0.004656 0 0 GMPPA 29926 broad.mit.edu 37 2 220370372 220370372 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:220370372C>T ENST00000373917.3 + 9 1019 c.948C>T c.(946-948)tcC>tcT p.S316S GMPPA_ENST00000358215.3_Intron|GMPPA_ENST00000313597.5_Intron|GMPPA_ENST00000341142.3_Intron|GMPPA_ENST00000373908.1_Intron|AC053503.11_ENST00000429882.1_RNA Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 285 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) AGCCTCAATCCCTGCCCCTTC 0.562000 7 31 0 0 0.003080 0 0 PRDM9 56979 broad.mit.edu 37 5 23509152 23509152 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:23509152G>A ENST00000296682.3 + 2 192 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 4 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 CATGAGCCCTGAAAAGTCCCA 0.572000 HNSCC(3;0.000094) 16 59 0 0 0.006122 0 0 NAV3 89795 broad.mit.edu 37 12 78598733 78598733 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:78598733C>T ENST00000397909.2 + 39 7026 c.6853C>T c.(6853-6855)Cca>Tca p.P2285S NAV3_ENST00000266692.7_Missense_Mutation_p.P2086S|NAV3_ENST00000536525.2_Missense_Mutation_p.P2263S|NAV3_ENST00000228327.6_Missense_Mutation_p.P2263S|NAV3_ENST00000541270.1_Missense_Mutation_p.P115S Q8IVL0 NAV3_HUMAN neuron navigator 3 2285 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 GAAACGCACACCATGGGAAGA 0.453000 HNSCC(70;0.22) 4 26 0 0 0.000602 0 0 DNAH5 1767 broad.mit.edu 37 5 13900318 13900318 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13900318C>T ENST00000265104.4 - 15 2360 c.2256G>A c.(2254-2256)atG>atA p.M752I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 752 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGTATACCTTCATGTTACTGA 0.413000 Kartagener syndrome 26 47 0 0 0.003954 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632278 156632278 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:156632278G>A ENST00000296518.7 + 6 1170 c.961G>A c.(961-963)Gaa>Aaa p.E321K GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E321K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E321K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E321K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.E63K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E321K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E321K Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 321 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) GCCTAATTTTGAAGAATACTT 0.383000 18 53 0 0 0.007413 0 0 EFCAB6 64800 broad.mit.edu 37 22 44063083 44063083 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:44063083G>A ENST00000262726.7 - 17 2137 c.1884C>T c.(1882-1884)ttC>ttT p.F628F EFCAB6_ENST00000396231.2_Silent_p.F476F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 628 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) TACACTTTTTGAATTTTTCAA 0.413000 83 211 0 0 0.014410 0 0 RBM46 166863 broad.mit.edu 37 4 155718046 155718046 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:155718046C>T ENST00000510397.1 + 2 321 c.142C>T c.(142-144)Cct>Tct p.P48S RBM46_ENST00000514866.1_Missense_Mutation_p.P48S|RBM46_ENST00000281722.3_Missense_Mutation_p.P48S NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 48 nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) ATTTGGCGGTCCTCCTCCAGG 0.383000 10 44 0 0 0.008291 0 0 GRM6 2916 broad.mit.edu 37 5 178413173 178413173 + Silent SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:178413173G>T ENST00000231188.5 - 8 2260 c.2082C>A c.(2080-2082)ccC>ccA p.P694P RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.P694P NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 694 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) GCTGTGAGGTGGGGCTGATGA 0.627000 12 21 2.32078e-09 2.36214e-09 0.003163 1 0 FRK 2444 broad.mit.edu 37 6 116325090 116325090 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:116325090G>A ENST00000606080.1 - 2 862 c.416C>T c.(415-417)tCc>tTc p.S139F NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 139 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GATTAGAAAGGAACCGGTCTT 0.368000 8 16 0 0 0.004482 0 0 PIK3CB 5291 broad.mit.edu 37 3 138453618 138453618 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:138453618G>A ENST00000477593.1 - 6 903 c.830C>T c.(829-831)gCc>gTc p.A277V PIK3CB_ENST00000289153.2_Missense_Mutation_p.A277V P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 277 PI3K-RBD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ATGGGGCAGGGCTCTGTTCAT 0.383000 53 235 0 0 0.014410 0 0 KCTD19 146212 broad.mit.edu 37 16 67323518 67323518 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67323518C>T ENST00000304372.5 - 16 2790 c.2735G>A c.(2734-2736)aGg>aAg p.R912K NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 912 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) AGAGACAGACCTAGACAGGCC 0.537000 40 87 0 0 0.009718 0 0 FOXN1 8456 broad.mit.edu 37 17 26864160 26864160 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:26864160T>G ENST00000226247.2 + 8 1682 c.1653T>G c.(1651-1653)gaT>gaG p.D551E FOXN1_ENST00000579795.1_Missense_Mutation_p.D551E NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 551 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) AGTTGAAGGATGATAGCTTGG 0.612000 43 131 0 0 0.014410 0 0 GOT1L1 137362 broad.mit.edu 37 8 37791993 37791993 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:37791993C>T ENST00000307599.4 - 9 1183 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 362 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) ACCAGGTATTCCACCTGCTGG 0.423000 80 169 0 0 0.014410 0 0 CARD6 84674 broad.mit.edu 37 5 40853616 40853616 + Silent SNP C C T rs139253407 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:40853616C>T ENST00000254691.5 + 3 2381 c.2182C>T c.(2182-2184)Cta>Tta p.L728L CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 728 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CAGGCCTGTTCTAGAGAACTC 0.488000 124 316 0 0 0.014410 0 0 SHB 6461 broad.mit.edu 37 9 37919851 37919851 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:37919851G>A ENST00000377707.3 - 6 2062 c.1497C>T c.(1495-1497)tcC>tcT p.S499S RP11-613M10.9_ENST00000540557.1_Intron NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 499 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GATAGAGGAGGGACAAGTGCT 0.597000 27 114 0 0 0.006320 0 0 PLEKHF1 79156 broad.mit.edu 37 19 30165443 30165443 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:30165443C>T ENST00000436066.3 + 2 1163 c.697C>T c.(697-699)Cac>Tac p.H233Y PLEKHF1_ENST00000592810.1_Missense_Mutation_p.H233Y NM_024310.4 NP_077286.3 Q96S99 PKHF1_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 1 233 apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|lung(3)|ovary(1)|prostate(1) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) GCAGCCAGCCCACCTGGCCCG 0.726000 5 7 0 0 0.001168 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969394 140969394 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:140969394C>T ENST00000298296.1 + 4 721 c.721C>T c.(721-723)Ctg>Ttg p.L241L MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 241 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TGGCATTTCCCTGACAGAAGT 0.478000 81 102 0 0 0.014410 0 0 OR2L2 26246 broad.mit.edu 37 1 248201816 248201816 + Missense_Mutation SNP G G A rs142994715 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248201816G>A ENST00000366479.2 + 1 343 c.247G>A c.(247-249)Gat>Aat p.D83N OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D83N(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) GAtggtttatgattttctgta 0.418000 95 285 0 0 0.014410 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111506 142111506 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142111506C>T ENST00000390378.1 - 0 229 AGGGAAGTTTCCTCTTCCTCT 0.507000 38 71 0 0 0.004878 0 0 ANO4 121601 broad.mit.edu 37 12 101430900 101430900 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:101430900C>T ENST00000392979.3 + 9 1125 c.764C>T c.(763-765)tCc>tTc p.S255F ANO4_ENST00000392977.3_Missense_Mutation_p.S290F|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 290 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ACCAATGGCTCCTATGAAGCT 0.348000 HNSCC(74;0.22) 41 134 0 0 0.014410 0 0 APOL5 80831 broad.mit.edu 37 22 36123097 36123097 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:36123097G>A ENST00000249044.2 + 3 982 c.982G>A c.(982-984)Gaa>Aaa p.E328K NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 328 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GACAGCAGAGGAACTGAGAGC 0.607000 29 85 0 0 0.008361 0 0 MIR541 100126308 broad.mit.edu 37 14 101530900 101530900 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:101530900C>T ENST00000401360.1 + 0 69 NR_030594.1 GGCACAGAATCTGGACTCTGC 0.592000 31 87 0 0 0.003271 0 0 KRT6C 286887 broad.mit.edu 37 12 52863587 52863587 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52863587C>T ENST00000252250.6 - 7 1338 c.1291G>A c.(1291-1293)Gag>Aag p.E431K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 431 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGGGCATCCTCCAGCCCTTCC 0.597000 40 91 0 0 0.009718 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110471946 110471946 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110471946G>A ENST00000378402.5 + 47 7231 c.7127G>A c.(7126-7128)gGa>gAa p.G2376E NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2376 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) CTCCCTGATGGAACTCTGTTT 0.363000 HNSCC(38;0.096) 7 10 0 0 0.006214 0 0 ABCB10 23456 broad.mit.edu 37 1 229685161 229685161 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:229685161T>A ENST00000344517.4 - 2 580 c.538A>T c.(538-540)Atg>Ttg p.M180L NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 180 ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) ACACTGGACATCGTGAGAAAT 0.522000 28 30 0 0 0.006320 0 0 DAB1 1600 broad.mit.edu 37 1 57602291 57602291 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57602291G>A ENST00000371236.2 - 4 494 c.231C>T c.(229-231)tcC>tcT p.S77S DAB1_ENST00000371230.1_Silent_p.S77S|DAB1_ENST00000420954.2_Silent_p.S77S|DAB1_ENST00000371231.1_Silent_p.S77S|DAB1_ENST00000439789.2_Silent_p.S77S|DAB1_ENST00000414851.2_Silent_p.S77S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.S77S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 77 PID. cell differentiation|nervous system development 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 GTTCTCCTTTGGAACGAGCGC 0.398000 7 25 0 0 0.001984 0 0 IRX6 79190 broad.mit.edu 37 16 55361597 55361597 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:55361597C>T ENST00000290552.7 + 4 1845 c.513C>T c.(511-513)aaC>aaT p.N171N IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 171 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 ACCGCAAAAACCCCTACCCCA 0.612000 13 98 0 0 0.001855 0 0 ZEB1 6935 broad.mit.edu 37 10 31815672 31815672 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:31815672G>A ENST00000446923.2 + 9 3198 c.2807G>A c.(2806-2808)cGa>cAa p.R936Q ZEB1_ENST00000320985.10_Missense_Mutation_p.R952Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.R885Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.R932Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.R953Q NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 952 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 p.R952Q(1) 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) GAACACATGCGATTACATTCT 0.368000 16 24 0 0 0.004990 0 0 PHTF2 57157 broad.mit.edu 37 7 77583174 77583174 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:77583174C>T ENST00000416283.2 + 17 2324 c.2198C>T c.(2197-2199)tCt>tTt p.S733F PHTF2_ENST00000422959.2_Missense_Mutation_p.S733F|PHTF2_ENST00000275575.7_Missense_Mutation_p.S677F|PHTF2_ENST00000307305.8_Missense_Mutation_p.S729F|PHTF2_ENST00000248550.7_Missense_Mutation_p.S767F NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 767 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TCAGCTGTTTCTGGTGTTATC 0.383000 29 44 0 0 0.006320 0 0 DNAH11 8701 broad.mit.edu 37 7 21778471 21778471 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:21778471G>A ENST00000328843.6 + 48 7850 c.7819G>A c.(7819-7821)Gat>Aat p.D2607N DNAH11_ENST00000409508.3_Missense_Mutation_p.D2600N Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2607 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 GCAGCATATTGATTATGGACA 0.338000 Kartagener syndrome 5 6 0 0 0.003080 0 0 ACD 65057 broad.mit.edu 37 16 67694231 67694231 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67694231G>A ENST00000219251.8 - 1 482 c.151C>T c.(151-153)Ctc>Ttc p.L51F ACD_ENST00000393919.4_Missense_Mutation_p.L51F NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 51 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GGCCGGAGGAGGAGGCCCCGC 0.741000 21 26 0 0 0.010504 0 0 UTP14A 10813 broad.mit.edu 37 X 129053176 129053176 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:129053176T>G ENST00000394422.3 + 7 591 c.563T>G c.(562-564)aTt>aGt p.I188S UTP14A_ENST00000425117.2_Missense_Mutation_p.I136S|UTP14A_ENST00000371042.3_Missense_Mutation_p.I20S|UTP14A_ENST00000371051.5_Missense_Mutation_p.I134S|RP4-537K23.4_ENST00000432062.1_RNA NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 188 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 GAGCAGGAAATTTTCAACCTC 0.458000 80 136 0 0 0.014410 0 0 C4orf50 389197 broad.mit.edu 37 4 5975479 5975479 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:5975479C>T ENST00000531445.1 - 4 1783 c.1737G>A c.(1735-1737)ggG>ggA p.G579G C4orf50_ENST00000324058.5_Silent_p.G105G Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 105 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 GCAGGAGGTTCCCCAGCCCAT 0.627000 45 91 0 0 0.011902 0 0 NKD1 85407 broad.mit.edu 37 16 50667135 50667135 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:50667135C>T ENST00000268459.3 + 10 1080 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 286 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GTCAGAACTGCCCCCCCGCAC 0.597000 23 115 0 0 0.012319 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520991 33520991 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:33520991G>A ENST00000297307.5 - 1 421 c.336C>T c.(334-336)atC>atT p.I112I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 112 DUF6 1. integral to membrane CAATGCTGAGGATGTTGAGCA 0.597000 125 273 0 0 0.014410 0 0 CC2D2A 57545 broad.mit.edu 37 4 15529154 15529154 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:15529154G>A ENST00000424120.1 + 12 1488 c.1234G>A c.(1234-1236)Ggg>Agg p.G412R CC2D2A_ENST00000389652.5_Missense_Mutation_p.G363R|CC2D2A_ENST00000413206.1_Missense_Mutation_p.G412R|CC2D2A_ENST00000503292.1_Missense_Mutation_p.G412R|CC2D2A_ENST00000513811.1_3'UTR Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 412 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 TGATATTTCAGGGTTAATCTT 0.458000 14 22 0 0 0.003163 0 0 UGT2B10 7365 broad.mit.edu 37 4 69683824 69683824 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:69683824C>T ENST00000265403.7 + 2 823 c.796C>T c.(796-798)Cct>Tct p.P266S UGT2B10_ENST00000458688.2_Missense_Mutation_p.P182S NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 266 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TTTTAAATTTCCTCATCCATT 0.383000 27 66 0 0 0.005443 0 0 MYH1 4619 broad.mit.edu 37 17 10408518 10408518 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10408518G>A ENST00000226207.5 - 21 2491 c.2397C>T c.(2395-2397)ttC>ttT p.F799F CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 799 IQ. 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 CTCTTGCCAAGAACCCTCTGC 0.443000 32 51 0 0 0.013726 0 0 CXCL13 10563 broad.mit.edu 37 4 78528937 78528937 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:78528937G>A ENST00000286758.4 + 3 223 c.145G>A c.(145-147)Gat>Aat p.D49N NM_006419.2 NP_006410.1 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 49 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 ACGCTTCATTGATCGAATTCA 0.388000 34 81 0 0 0.003271 0 0 ENOX2 10495 broad.mit.edu 37 X 129813720 129813720 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:129813720G>A ENST00000338144.3 - 7 760 c.343C>T c.(343-345)Ctc>Ttc p.L115F ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Missense_Mutation_p.L86F|ENOX2_ENST00000370927.1_Missense_Mutation_p.L115F|ENOX2_ENST00000370935.1_Missense_Mutation_p.L86F NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 115 Pro-rich. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GGAGGTGGGAGATCTAAGTTG 0.423000 31 52 0 0 0.008361 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935600 94935600 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94935600C>T ENST00000337425.5 - 2 706 c.632G>A c.(631-633)gGc>gAc p.G211D SERPINA9_ENST00000546329.1_Missense_Mutation_p.G175D|SERPINA9_ENST00000298845.7_Missense_Mutation_p.G111D|SERPINA9_ENST00000424550.2_Missense_Mutation_p.G62D|SERPINA9_ENST00000448305.2_Missense_Mutation_p.G113D|SERPINA9_ENST00000380365.3_Missense_Mutation_p.G193D NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 193 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AAGGTCAAGGCCTTGGATTAT 0.408000 83 247 0 0 0.014410 0 0 ZNF654 55279 broad.mit.edu 37 3 88188717 88188717 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:88188717C>T ENST00000309495.5 + 1 464 c.257C>T c.(256-258)tCt>tTt p.S86F CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AATGGGAATTCTGATAGTAAG 0.393000 10 42 0 0 0.010729 0 0 MIR493 574450 broad.mit.edu 37 14 101335434 101335434 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:101335434C>T ENST00000385254.1 + 0 38 NR_030172.1 GGCTttcattcattcgtttgc 0.577000 58 170 0 0 0.014410 0 0 PKNOX2 63876 broad.mit.edu 37 11 125237849 125237849 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:125237849C>T ENST00000298282.9 + 5 466 c.195C>T c.(193-195)gcC>gcT p.A65A PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 65 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) ACCCCCAGGCCCAGCTGGAGG 0.637000 15 47 0 0 0.004990 0 0 THSD7B 80731 broad.mit.edu 37 2 137814040 137814040 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:137814040C>T ENST00000409968.1 + 3 368 c.190C>T c.(190-192)Cgg>Tgg p.R64W THSD7B_ENST00000413152.2_Missense_Mutation_p.R33W|THSD7B_ENST00000272643.3_Missense_Mutation_p.R64W 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) AGTCCAGAGTCGGGCAGTGTG 0.498000 19 46 0 0 0.014323 0 0 ZBTB16 7704 broad.mit.edu 37 11 113934125 113934125 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:113934125G>A ENST00000335953.4 + 2 483 c.103G>A c.(103-105)Gat>Aat p.D35N ZBTB16_ENST00000392996.2_Missense_Mutation_p.D35N NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 35 BTB. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GACTTTGTGCGATGTGGTCAT 0.587000 38 32 0 0 0.007835 0 0 GOSR1 9527 broad.mit.edu 37 17 28808215 28808215 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:28808215C>T ENST00000225724.5 + 2 158 c.86C>T c.(85-87)tCc>tTc p.S29F GOSR1_ENST00000581721.1_Missense_Mutation_p.S29F|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S29F|GOSR1_ENST00000579905.1_3'UTR NM_001007024.1|NM_001007025.1|NM_004871.2 NP_001007025.1|NP_001007026.1|NP_004862.1 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 29 intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 12 AAACTAGTTTCCTTCAGCAAA 0.388000 42 117 0 0 0.010771 0 0 STK31 56164 broad.mit.edu 37 7 23768836 23768836 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:23768836C>T ENST00000354639.3 + 6 846 c.382C>T c.(382-384)Cct>Tct p.P128S STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.P128S|STK31_ENST00000355870.3_Missense_Mutation_p.P151S|STK31_ENST00000433467.2_Missense_Mutation_p.P151S NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 151 Tudor. 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 ACTACACATTCCTTCTGATCA 0.328000 27 44 0 0 0.005443 0 0 KIAA1045 23349 broad.mit.edu 37 9 34977564 34977564 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:34977564C>T ENST00000242315.3 + 7 1114 c.1032C>T c.(1030-1032)atC>atT p.I344I KIAA1045_ENST00000544237.1_Silent_p.I344I|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 344 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) TGGGTCCCATCGCAGATAGCA 0.602000 7 31 0 0 0.001984 0 0 ACOT12 134526 broad.mit.edu 37 5 80640856 80640856 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:80640856C>T ENST00000307624.3 - 8 806 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 260 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) ACTCCAACTTCAACACTGTGA 0.587000 23 32 0 0 0.003330 0 0 FBXW4 6468 broad.mit.edu 37 10 103433355 103433355 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:103433355G>A ENST00000331272.7 - 3 1050 c.432C>T c.(430-432)ttC>ttT p.F144F NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 144 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) CATCTGGACGGAACTGGTAGG 0.483000 47 45 0 0 0.014410 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43847842 43847842 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:43847842C>T ENST00000389420.3 - 12 1627 c.1628G>A c.(1627-1629)gGg>gAg p.G543E ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G543E NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 543 Disintegrin. 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) TACACATAGCCCATGACGGCA 0.373000 4 19 0 0 0.009096 0 0 AKNA 80709 broad.mit.edu 37 9 117106061 117106061 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:117106061G>A ENST00000307564.4 - 19 3845 c.3684C>T c.(3682-3684)tcC>tcT p.S1228S AKNA_ENST00000223791.3_Silent_p.S688S|AKNA_ENST00000374079.4_Silent_p.S173S|AKNA_ENST00000374088.3_Silent_p.S1228S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Silent_p.S1147S NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CCGCCTTAGGGGACAGAACAT 0.527000 34 108 0 0 0.003755 0 0 PRLR 5618 broad.mit.edu 37 5 35065952 35065952 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:35065952T>C ENST00000382002.5 - 10 1534 c.1108A>G c.(1108-1110)Aat>Gat p.N370D PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.N269D|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.N269D|PRLR_ENST00000310101.5_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 370 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTGGAGGGATTGGCCTGGGGT 0.522000 34 60 0 0 0.010818 0 0 ANO2 57101 broad.mit.edu 37 12 5685149 5685149 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:5685149G>A ENST00000327087.8 - 24 2543 c.2472C>T c.(2470-2472)atC>atT p.I824I ANO2_ENST00000546188.1_Silent_p.I825I|ANO2_ENST00000356134.5_Silent_p.I825I Q9NQ90 ANO2_HUMAN anoctamin 2 829 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 CCAGGCGGGGGATAAAGTCGG 0.517000 3 12 0 0 0.004672 0 0 CD55 1604 broad.mit.edu 37 1 207497975 207497975 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:207497975C>T ENST00000367064.3 + 3 616 c.358C>T c.(358-360)Cca>Tca p.P120S CD55_ENST00000367063.2_Missense_Mutation_p.P120S|CD55_ENST00000367062.4_Missense_Mutation_p.P120S|CD55_ENST00000367067.4_Intron|CD55_ENST00000391921.4_Intron|CD55_ENST00000367065.5_Missense_Mutation_p.P120S|CD55_ENST00000314754.8_Missense_Mutation_p.P120S|CD55_ENST00000391920.4_Missense_Mutation_p.P120S NM_000574.3 NP_000565.1 P08174 DAF_HUMAN CD55 molecule, decay accelerating factor for complement (Cromer blood group) 120 Sushi 2. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 Chloramphenicol(DB00446) GAATTATTTTCCAGTCGGTAC 0.408000 55 140 0 0 0.014410 0 0 PCNXL3 399909 broad.mit.edu 37 11 65392946 65392946 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65392946C>T ENST00000355703.3 + 18 3639 c.3100C>T c.(3100-3102)Ccg>Tcg p.P1034S NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1034 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GGCCGAGCCCCCGGACCCCTT 0.697000 30 52 0 0 0.003755 0 0 BICD1 636 broad.mit.edu 37 12 32491742 32491742 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:32491742G>A ENST00000281474.5 + 8 2696 c.2593G>A c.(2593-2595)Gat>Aat p.D865N BICD1_ENST00000548411.1_Intron NM_001714.2 NP_001705.2 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 865 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TTCCCTTTGTGATCAGAGCCG 0.428000 74 158 0 0 0.014410 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510144 77510144 + Missense_Mutation SNP C C T rs111715869 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:77510144C>T ENST00000477717.1 + 3 752 c.517C>T c.(517-519)Ccc>Tcc p.P173S NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 173 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 CTTCTGGGGCCCCAGCAGCTA 0.622000 50 122 0 0 0.014410 0 0 ZNF516 9658 broad.mit.edu 37 18 74091084 74091084 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:74091084G>A ENST00000443185.2 - 4 3303 c.2986C>T c.(2986-2988)Cct>Tct p.P996S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 996 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) GGAGGTAGAGGAGGAGCGCCC 0.672000 29 43 0 0 0.006320 0 0 USP40 55230 broad.mit.edu 37 2 234468559 234468559 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:234468559G>A ENST00000251722.6 - 4 396 c.279C>T c.(277-279)atC>atT p.I93I USP40_ENST00000450966.1_Silent_p.I105I|USP40_ENST00000427112.2_Silent_p.I93I Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 93 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) ACTGTAAAGGGATGATTCGAA 0.408000 7 14 0 0 0.003080 0 0 PAK7 57144 broad.mit.edu 37 20 9560930 9560930 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:9560930C>T ENST00000378429.3 - 5 1398 c.852G>A c.(850-852)caG>caA p.Q284Q PAK7_ENST00000378423.1_Silent_p.Q284Q|PAK7_ENST00000353224.5_Silent_p.Q284Q NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 284 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) ACCTGGACCTCTGCCGCATGG 0.542000 46 121 0 0 0.013114 0 0 TP63 8626 broad.mit.edu 37 3 189455563 189455563 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:189455563G>A ENST00000264731.3 + 2 186 c.97G>A c.(97-99)Gaa>Aaa p.E33K TP63_ENST00000418709.2_Missense_Mutation_p.E33K|TP63_ENST00000392460.3_Missense_Mutation_p.E33K|TP63_ENST00000440651.2_Missense_Mutation_p.E33K|TP63_ENST00000382063.4_Missense_Mutation_p.E33K|TP63_ENST00000320472.5_Missense_Mutation_p.E33K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 33 Transcription activation. 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) CTCTTGGAAAGAAAGTTATTA 0.358000 HNSCC(45;0.13) 58 72 0 0 0.014410 0 0 KPNA2 3838 broad.mit.edu 37 17 66036862 66036862 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:66036862C>T ENST00000537025.2 + 4 902 c.282C>T c.(280-282)ctC>ctT p.L94L KPNA2_ENST00000330459.3_Silent_p.L94L P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 94 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AAAATCAGCTCCAAGCTACTC 0.418000 87 217 0 0 0.014410 0 0 SVEP1 79987 broad.mit.edu 37 9 113252033 113252033 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113252033G>A ENST00000401783.2 - 9 2163 c.1827C>T c.(1825-1827)ttC>ttT p.F609F SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.F609F|SVEP1_ENST00000374461.1_Silent_p.F586F|SVEP1_ENST00000374469.1_Silent_p.F586F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 609 HYR 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AAGGTGGGGTGAAAGCTGGAT 0.393000 9 41 0 0 0.010729 0 0 GAK 2580 broad.mit.edu 37 4 853510 853510 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:853510C>T ENST00000314167.4 - 24 3277 c.3166_splice c.e24-1 p.G1056_splice GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Splice_Site_p.G977_splice NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1056 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) GAAGAGGGGGCCTGGAGAAGG 0.607000 20 110 0 0 0.014323 0 0 ASTN2 23245 broad.mit.edu 37 9 120053793 120053793 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:120053793C>T ENST00000313400.4 - 2 543 c.e2-1 ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site|ASTN2_ENST00000361477.3_Splice_Site O75129 ASTN2_HUMAN astrotactin 2 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CCAGACATCTCTGCAAGACAA 0.587000 19 41 0 0 0.010504 0 0 MAP3K4 4216 broad.mit.edu 37 6 161518130 161518130 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:161518130C>T ENST00000392142.4 + 16 3594 c.3446C>T c.(3445-3447)cCc>cTc p.P1149L MAP3K4_ENST00000366920.2_Missense_Mutation_p.P1145L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P1145L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.P1149L NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1149 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CGGAACAGCCCCCGTCCTATG 0.448000 38 67 0 0 0.006230 0 0 KL 9365 broad.mit.edu 37 13 33628096 33628096 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:33628096C>T ENST00000380099.3 + 2 1020 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P31S NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 338 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TGGTGACTATCCCGAGAGCAT 0.393000 88 113 0 0 0.014410 0 0 MERTK 10461 broad.mit.edu 37 2 112751951 112751951 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:112751951G>A ENST00000295408.4 + 9 1677 c.1420G>A c.(1420-1422)Gat>Aat p.D474N MERTK_ENST00000409780.1_Missense_Mutation_p.D298N|MERTK_ENST00000421804.2_Missense_Mutation_p.D474N Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 474 Fibronectin type-III 2. 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 GCCCTTCAGTGATCCAGTGAA 0.527000 55 110 0 0 0.014410 0 0 SEMG2 6407 broad.mit.edu 37 20 43851542 43851542 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:43851542G>A ENST00000372769.3 + 2 1359 c.1269G>A c.(1267-1269)aaG>aaA p.K423K NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 423 4 X 60 AA tandem repeats, type I.|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) GTGGAGAAAAGGATGTACAGA 0.373000 39 74 0 0 0.006999 0 0 TENM3 55714 broad.mit.edu 37 4 183717822 183717822 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:183717822C>T ENST00000511685.1 + 27 7369 c.7246C>T c.(7246-7248)Cat>Tat p.H2416Y TENM3_ENST00000406950.2_Missense_Mutation_p.H2416Y teneurin transmembrane protein 3 ATTTGGTTTCCATCTGCACAA 0.388000 17 28 0 0 0.008871 0 0 PLCB1 23236 broad.mit.edu 37 20 8769290 8769290 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:8769290G>A ENST00000378641.3 + 29 3674 c.3199G>A c.(3199-3201)Gaa>Aaa p.E1067K PLCB1_ENST00000378637.2_Missense_Mutation_p.E1067K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E1067K NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1067 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGAAAAGAAAGAATTAAAGAA 0.343000 7 18 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179574561 179574561 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179574561G>A ENST00000589042.1 - 99 28709 c.28485C>T c.(28483-28485)ttC>ttT p.F9495F TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.F9178F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F8251F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9178 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) GTCTTTTAGTGAAACTTGGTG 0.398000 24 68 0 0 0.006320 0 0 CACNA1E 777 broad.mit.edu 37 1 181680125 181680125 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:181680125G>A ENST00000526775.1 + 8 1256 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q CACNA1E_ENST00000357570.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R364Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R364Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R364Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 364 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 GTGGAGAACCGAAGGGCTTTC 0.537000 28 99 0 0 0.010818 0 0 ACSL5 51703 broad.mit.edu 37 10 114158657 114158657 + Splice_Site SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:114158657A>T ENST00000393081.1 + 3 463 c.e3-1 ACSL5_ENST00000479936.1_Splice_Site|ACSL5_ENST00000354273.4_Splice_Site|ACSL5_ENST00000354655.4_Splice_Site|ACSL5_ENST00000356116.1_Splice_Site|ACSL5_ENST00000433418.1_Splice_Site NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTTGTGTCTTAGGGAGGAGCA 0.438000 32 53 0 0 0.003755 0 0 ZNF85 7639 broad.mit.edu 37 19 21132809 21132809 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:21132809C>T ENST00000601023.1 + 2 1958 c.1312C>T c.(1312-1314)Ctt>Ttt p.L438F ZNF85_ENST00000345030.6_Missense_Mutation_p.L464F|ZNF85_ENST00000328178.8_Missense_Mutation_p.L497F Q03923 ZNF85_HUMAN zinc finger protein 85 497 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 GCCCTCAACCCTTACTATCCA 0.348000 42 46 0 0 0.009718 0 0 RIC3 79608 broad.mit.edu 37 11 8132611 8132611 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:8132611C>T ENST00000396677.2 - 3 257 c.258G>A c.(256-258)gtG>gtA p.V86V RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Silent_p.V199V|RIC3_ENST00000343202.4_Silent_p.V247V|RIC3_ENST00000425599.2_Silent_p.V167V|RIC3_ENST00000309737.6_Silent_p.V248V|RIC3_ENST00000335425.7_Silent_p.V66V Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone 248 Poly-Gly. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CAGGGTAATCCACCAAGATTG 0.403000 30 80 0 0 0.007291 0 0 SPDYE4 388333 broad.mit.edu 37 17 8660620 8660620 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:8660620G>A ENST00000328794.6 - 2 476 c.300C>T c.(298-300)tcC>tcT p.S100S NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 100 breast(1)|endometrium(2)|kidney(1) 4 CAGGGAGCACGGAGGATGCTC 0.567000 4 3 0 0 0.001168 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102509599 102509599 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:102509599C>T ENST00000321521.9 + 21 3025 c.2452C>T c.(2452-2454)Cgt>Tgt p.R818C PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R818C|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R818C|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 818 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACGTCATGTTCGTACTAGATT 0.333000 7 19 0 0 0.008291 0 0 FCHSD2 9873 broad.mit.edu 37 11 72695196 72695196 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:72695196G>A ENST00000409314.1 - 8 810 c.642C>T c.(640-642)acC>acT p.T214T FCHSD2_ENST00000458644.2_Silent_p.T54T|FCHSD2_ENST00000409853.1_Silent_p.T158T|FCHSD2_ENST00000311172.7_Silent_p.T158T|FCHSD2_ENST00000409418.4_Silent_p.T214T O94868 FCSD2_HUMAN FCH and double SH3 domains 2 214 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CTGCCGCTAGGGTAAGAAGAT 0.363000 124 161 0 0 0.014410 0 0 ZNF268 10795 broad.mit.edu 37 12 133779124 133779124 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:133779124C>T ENST00000536435.2 + 6 1182 c.852C>T c.(850-852)gcC>gcT p.A284A ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.A123A|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000228289.5_Silent_p.A284A NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 284 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GTGAGAAAGCCTTCAGCAGCA 0.408000 4 13 0 0 0.009096 0 0 MCPH1 79648 broad.mit.edu 37 8 6302730 6302730 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:6302730C>T ENST00000344683.5 + 8 1563 c.1487C>T c.(1486-1488)tCg>tTg p.S496L MCPH1_ENST00000519480.1_Missense_Mutation_p.S496L|MCPH1_ENST00000522905.1_Missense_Mutation_p.S448L NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 496 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CGTGCAACTTCGAGTTGCGTG 0.478000 50 83 0 0 0.014410 0 0 ABCB5 340273 broad.mit.edu 37 7 20738039 20738039 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:20738039C>T ENST00000404938.2 + 17 2672 c.2020C>T c.(2020-2022)Cct>Tct p.P674S ABCB5_ENST00000258738.6_Missense_Mutation_p.P229S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 229 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 GATAAGTCTTCCTGAAGTCTC 0.333000 15 35 0 0 0.002450 0 0 EMCN 51705 broad.mit.edu 37 4 101386648 101386648 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:101386648G>A ENST00000296420.4 - 4 486 c.308C>T c.(307-309)tCa>tTa p.S103L EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.S103L|EMCN_ENST00000511970.1_Missense_Mutation_p.S103L NM_001159694.1|NM_016242.3 NP_001153166.1|NP_057326.2 Q9ULC0 MUCEN_HUMAN endomucin 103 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) TGTTACGTTTGAAATGATGGA 0.363000 20 56 0 0 0.010504 0 0 ASTN2 23245 broad.mit.edu 37 9 119903672 119903672 + Silent SNP G G A rs140458736 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:119903672G>A ENST00000313400.4 - 4 1201 c.1101C>T c.(1099-1101)atC>atT p.I367I ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Silent_p.I367I|ASTN2_ENST00000361477.3_Intron O75129 ASTN2_HUMAN astrotactin 2 367 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCAGCTGACCGATCTCGATGG 0.587000 12 46 0 0 0.001855 0 0 THSD4 79875 broad.mit.edu 37 15 71535268 71535268 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:71535268C>T ENST00000355327.3 + 5 879 c.745C>T c.(745-747)Cat>Tat p.H249Y THSD4_ENST00000261862.6_Missense_Mutation_p.H249Y Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 249 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 ACCTTTGACCCATGATCAAGG 0.577000 17 66 0 0 0.006122 0 0 SALL1 6299 broad.mit.edu 37 16 51173074 51173074 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:51173074T>C ENST00000440970.1 - 2 3199 c.2768A>G c.(2767-2769)tAt>tGt p.Y923C SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.Y1020C|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1020 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ATGACTTCTATAGTGAATGTC 0.413000 57 110 0 0 0.014410 0 0 FAM135B 51059 broad.mit.edu 37 8 139323151 139323151 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:139323151G>A ENST00000395297.1 - 3 260 c.90C>T c.(88-90)atC>atT p.I30I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 30 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) AGGTCACTCGGATCTGGTAAT 0.483000 HNSCC(54;0.14) 30 61 0 0 0.012213 0 0 FCRL1 115350 broad.mit.edu 37 1 157773789 157773789 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:157773789G>A ENST00000358292.3 - 3 216 c.165C>T c.(163-165)ttC>ttT p.F55F FCRL1_ENST00000368176.3_Silent_p.F55F|FCRL1_ENST00000491942.1_Silent_p.F55F|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 55 Ig-like C2-type 1. 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) GGGTGTCTCTGAAAAAGCAGA 0.592000 38 116 0 0 0.006999 0 0 SCN11A 11280 broad.mit.edu 37 3 38912235 38912235 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38912235C>T ENST00000302328.3 - 22 3958 c.3759_splice c.e22-1 p.A1254_splice SCN11A_ENST00000444237.2_Splice_Site_p.A1254_splice|SCN11A_ENST00000456224.3_Splice_Site_p.A1216_splice|SCN11A_ENST00000450244.1_Splice_Site_p.A1254_splice NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1254 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.A1254S(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTAAATGTTGCCTGCAACAAA 0.418000 16 58 0 0 0.003163 0 0 TRHR 7201 broad.mit.edu 37 8 110099751 110099751 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110099751G>A ENST00000518632.1 + 2 361 c.10G>A c.(10-12)Gag>Aag p.E4K TRHR_ENST00000311762.2_Missense_Mutation_p.E4K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 4 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GATGGAAAACGAGACAGTCAG 0.458000 7 38 0 0 0.003080 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72050882 72050882 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:72050882G>A ENST00000378743.3 - 2 1156 c.798C>T c.(796-798)ttC>ttT p.F266F ZFC3H1_ENST00000548100.1_Silent_p.F266F|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.F266F NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 266 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTTGGTCCTCGAAGTTCAATG 0.363000 33 79 0 0 0.013726 0 0 KRT4 3851 broad.mit.edu 37 12 53200993 53200993 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:53200993C>T ENST00000551956.1 - 9 1915 c.1423G>A c.(1423-1425)Gga>Aga p.G475R KRT4_ENST00000458244.2_Missense_Mutation_p.G455R|KRT4_ENST00000293774.4_Missense_Mutation_p.G549R B4DRS2 B4DRS2_HUMAN keratin 4 475 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CTTCCTAATCCTCCGCTGATG 0.572000 28 57 0 0 0.005443 0 0 FGD5 152273 broad.mit.edu 37 3 14952406 14952406 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:14952406G>A ENST00000285046.5 + 11 3485 c.3375G>A c.(3373-3375)ggG>ggA p.G1125G FGD5_ENST00000543601.1_Silent_p.G884G|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1125 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AAGTAACAGGGAAAAACAGAC 0.542000 18 30 0 0 0.003330 0 0 CEP70 80321 broad.mit.edu 37 3 138251366 138251366 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:138251366G>A ENST00000264982.3 - 8 948 c.682C>T c.(682-684)Cat>Tat p.H228Y CEP70_ENST00000489254.1_Missense_Mutation_p.H76Y|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.H208Y|CEP70_ENST00000484888.1_Missense_Mutation_p.H228Y|CEP70_ENST00000481834.1_Missense_Mutation_p.H228Y NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 228 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 CTTTGTGTATGAATTTTTCTA 0.284000 102 181 0 0 0.014410 0 0 TCF7L2 6934 broad.mit.edu 37 10 114799871 114799871 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:114799871C>T ENST00000545257.1 + 5 1045 c.538C>T c.(538-540)Ccg>Tcg p.P180S TCF7L2_ENST00000369395.1_Missense_Mutation_p.P157S|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P180S|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P157S|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P157S|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P180S|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P157S|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P180S Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 180 Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GTCCCCATCACCGGCACACAT 0.493000 T VTI1A colorectal 58 92 0 0 0.014410 0 0 PLAU 5328 broad.mit.edu 37 10 75673310 75673310 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:75673310C>T ENST00000446342.1 + 6 905 c.423C>T c.(421-423)tcC>tcT p.S141S PLAU_ENST00000372764.3_Silent_p.S158S|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Silent_p.S122S|C10orf55_ENST00000412307.2_Intron NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 158 Kringle. P -> L (in dbSNP:rs2227564). blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) AAAAGCCCTCCTCTCCTCCAG 0.527000 216 315 0 0 0.014410 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949736 45949736 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:45949736G>A ENST00000323084.4 - 5 800 c.735C>T c.(733-735)gtC>gtT p.V245V TSPEAR_ENST00000397916.1_Silent_p.V177V NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 245 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GAGCCTGCAGGACCCGTGGGA 0.637000 22 86 0 0 0.002780 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217855 130217855 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:130217855G>A ENST00000276211.5 + 4 812 c.467G>A c.(466-468)cGa>cAa p.R156Q ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R144Q|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R20Q NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 156 Arg-rich. 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 AACGTGGTGCGAAGGGTGTTT 0.617000 50 97 0 0 0.014410 0 0 CACNG3 10368 broad.mit.edu 37 16 24372930 24372930 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:24372930C>T ENST00000005284.3 + 4 1896 c.694C>T c.(694-696)Cgg>Tgg p.R232W NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 232 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) GTATCGATTCCGGAGGCGGTC 0.527000 16 66 0 0 0.003163 0 0 MARCH10 162333 broad.mit.edu 37 17 60813617 60813617 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:60813617C>T ENST00000544856.2 - 7 1987 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E538K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E538K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E576K|RP11-156L14.1_ENST00000579201.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 538 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 ACAGCAAATTCGTGTGCACTG 0.443000 56 133 0 0 0.014410 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414780 105414780 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:105414780G>A ENST00000333244.5 - 7 7127 c.7008C>T c.(7006-7008)tcC>tcT p.S2336S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2336 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGGCCTCGATGGACTTGCCAA 0.582000 136 460 0 0 0.014410 0 0 AGBL1 123624 broad.mit.edu 37 15 87089343 87089343 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:87089343C>T ENST00000441037.2 + 19 2753 c.2658C>T c.(2656-2658)atC>atT p.I886I AGBL1_ENST00000389298.3_Silent_p.I617I|AGBL1_ENST00000421325.2_Silent_p.I886I NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 886 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.I886I(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CATCTACTATCCTAGAGGAGG 0.473000 8 27 0 0 0.008291 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088615 65088615 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65088615C>T ENST00000544348.1 + 2 852 c.246C>T c.(244-246)ccC>ccT p.P82P CDC42EP2_ENST00000533419.1_Silent_p.P82P|CDC42EP2_ENST00000279249.2_Silent_p.P82P O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 82 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 TCGACCTCCCCTTCCAGTTCA 0.642000 45 55 0 0 0.010771 0 0 MEPE 56955 broad.mit.edu 37 4 88766951 88766951 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:88766951G>A ENST00000497649.2 + 6 1237 c.859G>A c.(859-861)Gaa>Aaa p.E287K MEPE_ENST00000395102.4_Missense_Mutation_p.E342K|MEPE_ENST00000361056.3_Missense_Mutation_p.E311K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E198K|MEPE_ENST00000424957.3_Missense_Mutation_p.E311K|MEPE_ENST00000560249.1_Missense_Mutation_p.E198K Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 311 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGAGAGAGAAGAAAATGGTGG 0.448000 20 47 0 0 0.010504 0 0 KLHL24 54800 broad.mit.edu 37 3 183390263 183390263 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:183390263C>T ENST00000454652.1 + 8 1979 c.1593C>T c.(1591-1593)ttC>ttT p.F531F KLHL24_ENST00000242810.6_Silent_p.F531F|KLHL24_ENST00000476808.1_Silent_p.F531F Q6TFL4 KLH24_HUMAN kelch-like family member 24 531 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGAATACATTCAGCCGTCAGG 0.353000 30 32 0 0 0.008361 0 0 ZIM3 114026 broad.mit.edu 37 19 57646651 57646651 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:57646651C>T ENST00000269834.1 - 5 1439 c.1054G>A c.(1054-1056)Gat>Aat p.D352N NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D352N(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCTCATGATCGATGACATTG 0.383000 83 114 0 0 0.014410 0 0 GIMAP6 474344 broad.mit.edu 37 7 150324823 150324823 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:150324823C>T ENST00000328902.5 - 3 1079 c.863G>A c.(862-864)gGg>gAg p.G288E GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 288 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCAGCCTTCCCCAGCAGGCA 0.587000 34 108 0 0 0.004878 0 0 OR8K3 219473 broad.mit.edu 37 11 56085842 56085842 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56085842C>T ENST00000312711.1 + 1 60 c.60C>T c.(58-60)atC>atT p.I20I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I20I(1) central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCACAGATATCGCTGAGCTGC 0.433000 32 46 0 0 0.012213 0 0 PTPRT 11122 broad.mit.edu 37 20 40944528 40944528 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:40944528G>A ENST00000373198.3 - 12 2209 c.1974C>T c.(1972-1974)ctC>ctT p.L658L PTPRT_ENST00000373201.1_Silent_p.L658L|PTPRT_ENST00000373193.3_Silent_p.L658L|PTPRT_ENST00000373190.1_Silent_p.L658L|PTPRT_ENST00000373187.1_Silent_p.L658L|PTPRT_ENST00000373184.1_Silent_p.L658L|PTPRT_ENST00000356100.2_Silent_p.L658L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 658 Fibronectin type-III 4. 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) GTAGAGAATCGAGGCTGGAGG 0.517000 43 123 0 0 0.014410 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146563 70146563 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:70146563C>T ENST00000335568.5 + 1 347 c.345C>T c.(343-345)atC>atT p.I115I UGT2B28_ENST00000511240.1_Silent_p.I115I NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 115 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) AACAAGAAATCCTGTGGGAAT 0.294000 5 55 0 0 0.000602 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949818 45949818 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:45949818A>T ENST00000323084.4 - 5 718 c.653T>A c.(652-654)gTc>gAc p.V218D TSPEAR_ENST00000397916.1_Missense_Mutation_p.V150D NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 218 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CGGCAGCAGGACCAGTTGCCT 0.692000 8 32 0 0 0.003080 0 0 LACRT 90070 broad.mit.edu 37 12 55026969 55026969 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:55026969C>T ENST00000257867.4 - 2 160 c.107G>A c.(106-108)gGg>gAg p.G36E LACRT_ENST00000547511.1_Missense_Mutation_p.G36E NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 36 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 CTCACAGGTCCCAGCTTCCTG 0.582000 66 217 0 0 0.014410 0 0 CEP44 80817 broad.mit.edu 37 4 175224860 175224860 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:175224860C>T ENST00000503780.1 + 5 658 c.244C>T c.(244-246)Cgt>Tgt p.R82C CEP44_ENST00000426172.1_Missense_Mutation_p.R82C|CEP44_ENST00000296519.4_Missense_Mutation_p.R82C|CEP44_ENST00000457424.2_Missense_Mutation_p.R82C NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 82 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 GCAGCTTCTTCGTGATCAATT 0.343000 4 47 0 0 0.001168 0 0 IFNB1 3456 broad.mit.edu 37 9 21077760 21077760 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:21077760G>A ENST00000380232.2 - 1 183 c.109C>T c.(109-111)Cag>Tag p.Q37* NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 37 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity p.Q37K(1) breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TTCTGACACTGAAAATTGCTG 0.468000 16 39 0 0 0.004007 0 0 SOX7 83595 broad.mit.edu 37 8 10583914 10583914 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:10583914G>A ENST00000304501.1 - 2 579 c.501C>T c.(499-501)ccC>ccT p.P167P SOX7_ENST00000554914.1_Silent_p.P219P|SOX7_ENST00000553390.1_Silent_p.P219P NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 167 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GGGCAGTGCCGGGGGAGTACT 0.726000 15 42 0 0 0.002450 0 0 PRDM9 56979 broad.mit.edu 37 5 23522461 23522461 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:23522461G>A ENST00000296682.3 + 7 739 c.557G>A c.(556-558)aGa>aAa p.R186K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 186 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 CTGCGAGAAAGAAAGGGTCAT 0.473000 HNSCC(3;0.000094) 39 142 0 0 0.010771 0 0 CETP 1071 broad.mit.edu 37 16 57004989 57004989 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:57004989C>T ENST00000200676.3 + 6 702 c.572C>T c.(571-573)aCc>aTc p.T191I CETP_ENST00000379780.2_Missense_Mutation_p.T191I|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000566128.1_Missense_Mutation_p.T126I NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 191 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 ATCTCCTTCACCCTGAAGCTG 0.587000 34 80 0 0 0.005524 0 0 ABCD2 225 broad.mit.edu 37 12 39947731 39947731 + Nonsense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:39947731C>A ENST00000308666.3 - 10 2341 c.2206G>T c.(2206-2208)Gaa>Taa p.E736* NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 736 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 GTCTCATCTTCATTTTTAATT 0.318000 4 15 0.00024832 0.000251847 0.009096 1 0 C1orf168 199920 broad.mit.edu 37 1 57257937 57257937 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57257937C>T ENST00000343433.6 - 2 629 c.549G>A c.(547-549)agG>agA p.R183R C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 183 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCAGCTTTTTCCTGGGTTCCT 0.478000 28 85 0 0 0.007291 0 0 SPON1 10418 broad.mit.edu 37 11 14063132 14063132 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:14063132C>T ENST00000310358.7 + 0 948 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GAAAGCACTCCACGGAGGAGG 0.473000 37 157 0 0 0.004289 0 0 FAM228A 653140 broad.mit.edu 37 2 24406459 24406459 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:24406459C>T ENST00000295150.3 + 5 432 c.346C>T c.(346-348)Cca>Tca p.P116S RP11-507M3.1_ENST00000584973.1_3'UTR NM_001040710.1 NP_001035800.1 family with sequence similarity 228, member A CTGTGTGATTCCAAAAGAGTG 0.408000 26 26 0 0 0.006320 0 0 TXNDC8 255220 broad.mit.edu 37 9 113066803 113066803 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113066803A>T ENST00000374510.4 - 5 276 c.265T>A c.(265-267)Ttc>Atc p.F89I TXNDC8_ENST00000374511.3_Missense_Mutation_p.F89I|TXNDC8_ENST00000423740.2_Missense_Mutation_p.F69I NM_001003936.2 NP_001003936.1 Q6A555 TXND8_HUMAN thioredoxin domain containing 8 (spermatozoa) 89 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis Golgi apparatus electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 ATTCTTGAGAATAGGGTTACC 0.398000 28 81 0 0 0.007291 0 0 INSL4 3641 broad.mit.edu 37 9 5231621 5231621 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:5231621C>T ENST00000239316.4 + 1 203 c.98C>T c.(97-99)cCc>cTc p.P33L NM_002195.1 NP_002186.1 Q14641 INSL4_HUMAN insulin-like 4 (placenta) 33 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GGATGTGGTCCCCGATTTGGA 0.562000 14 29 0 0 0.001855 0 0 ZNF414 84330 broad.mit.edu 37 19 8576745 8576745 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:8576745G>A ENST00000393927.4 - 5 743 c.630C>T c.(628-630)ccC>ccT p.P210P ZNF414_ENST00000255616.8_Silent_p.P210P NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CCAGGGCCGGGGGTGGCGGCG 0.726000 10 26 0 0 0.010729 0 0 NAA15 80155 broad.mit.edu 37 4 140299993 140299993 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:140299993C>T ENST00000296543.5 + 17 2463 c.2140C>T c.(2140-2142)Cgt>Tgt p.R714C NAA15_ENST00000398947.1_Missense_Mutation_p.R714C NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 714 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GTGTATGATTCGTCTCTTTAA 0.333000 23 50 0 0 0.004656 0 0 TRAT1 50852 broad.mit.edu 37 3 108572476 108572476 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:108572476G>A ENST00000295756.6 + 6 543 c.313G>A c.(313-315)Gaa>Aaa p.E105K TRAT1_ENST00000426646.1_Missense_Mutation_p.E68K NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 105 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 GGCAACCAATGAAACACAGAT 0.403000 58 89 0 0 0.014410 0 0 DENND3 22898 broad.mit.edu 37 8 142173457 142173457 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:142173457G>A ENST00000519811.1 + 10 1448 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K DENND3_ENST00000262585.2_Missense_Mutation_p.E380K|DENND3_ENST00000424248.1_Missense_Mutation_p.E328K A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 380 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TTTAAACTATGAACACAGAGT 0.378000 66 242 0 0 0.014410 0 0 SETX 23064 broad.mit.edu 37 9 135205748 135205748 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:135205748G>A ENST00000372169.2 - 10 1419 c.1237C>T c.(1237-1239)Cct>Tct p.P413S SETX_ENST00000224140.5_Missense_Mutation_p.P413S|SETX_ENST00000393220.1_Missense_Mutation_p.P413S Q7Z333 SETX_HUMAN senataxin 413 P -> L (in SCAR1). cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGGACAAAAGGGATGAACCAT 0.408000 26 71 0 0 0.007291 0 0 PIWIL1 9271 broad.mit.edu 37 12 130846112 130846112 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:130846112G>A ENST00000245255.3 + 16 2208 c.1936G>A c.(1936-1938)Gga>Aga p.G646R NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 646 Piwi.|RNA-binding (By similarity). 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) GTCAATCGCAGGATTTGTTGC 0.488000 30 99 0 0 0.012213 0 0 PPARA 5465 broad.mit.edu 37 22 46631032 46631032 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:46631032C>T ENST00000396000.2 + 8 1427 c.1162C>T c.(1162-1164)Cgt>Tgt p.R388C PPARA_ENST00000402126.1_Missense_Mutation_p.R388C|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R388C|PPARA_ENST00000407236.1_Missense_Mutation_p.R388C Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 388 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GAGACTAGATCGTCCTGGCCT 0.448000 69 171 0 0 0.014410 0 0 MUC2 4583 broad.mit.edu 37 11 1095330 1095330 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1095330C>T ENST00000441003.2 + 32 6177 c.6150C>T c.(6148-6150)tgC>tgT p.C2050C MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.C188C NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4412 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) CCCCCGAGTGCCCAGACTTTG 0.687000 14 47 0 0 0.004990 0 0 MACF1 23499 broad.mit.edu 37 1 39818781 39818781 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:39818781C>T ENST00000564288.1 + 44 12079 c.11302C>T c.(11302-11304)Ctt>Ttt p.L3768F MACF1_ENST00000539005.1_Missense_Mutation_p.L1706F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2208F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1706F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1706F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.L3773F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1706F|MACF1_ENST00000567887.1_Missense_Mutation_p.L3805F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3773 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) GCTGACCAACCTTCCAGGAAT 0.512000 15 52 0 0 0.004007 0 0 DLK1 8788 broad.mit.edu 37 14 101201152 101201152 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:101201152G>A ENST00000341267.4 + 5 1313 c.1071G>A c.(1069-1071)gaG>gaA p.E357E DLK1_ENST00000331224.6_Silent_p.E284E NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 357 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) ACAGCGGGGAGGACCTGGCCG 0.577000 57 151 0 0 0.014410 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398358 23398358 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:23398358C>T ENST00000379361.4 + 2 1862 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 334 SSD. 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 GAGTCCCTTTCGTCATGCTAG 0.483000 64 83 0 0 0.014410 0 0 BSX 390259 broad.mit.edu 37 11 122850164 122850164 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:122850164C>T ENST00000343035.2 - 2 312 c.262_splice c.e2-1 p.G88_splice NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 88 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GGACTGGCATCCCTGCAGAGA 0.687000 28 43 0 0 0.005443 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749605 22749605 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:22749605C>T ENST00000390298.2 + 0 163 CCTGTGCTTCCAGCACTGGAG 0.507000 35 43 0 0 0.013726 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954519 79954519 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:79954519C>T ENST00000306729.7 + 7 827 c.730C>T c.(730-732)Cct>Tct p.P244S ASPSCR1_ENST00000306739.4_Missense_Mutation_p.P244S|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P167S NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 244 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) CCCCTTTGTTCCTTTCTCGGG 0.652000 T TFE3 alveolar soft part sarcoma 30 68 0 0 0.008361 0 0 MEST 4232 broad.mit.edu 37 7 130138042 130138042 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:130138042G>A ENST00000223215.4 + 5 623 c.402G>A c.(400-402)ctG>ctA p.L134L MEST_ENST00000437945.1_Silent_p.L134L|MEST_ENST00000416162.2_Silent_p.L125L|MEST_ENST00000393187.1_Silent_p.L125L|MEST_ENST00000378576.4_Silent_p.L125L|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000341441.4_Silent_p.L125L|MEST_ENST00000462132.1_3'UTR NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 134 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) TGCGGCATCTGGGGCTCCAGA 0.493000 138 393 0 0 0.014410 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815818 23815818 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:23815818C>T ENST00000264867.2 - 8 1407 c.1288G>A c.(1288-1290)Gac>Aac p.D430N PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 430 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TAGCACTGGTCTGAATCTGTG 0.468000 9 47 0 0 0.004482 0 0 RFT1 91869 broad.mit.edu 37 3 53153976 53153976 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:53153976G>A ENST00000296292.3 - 6 681 c.620C>T c.(619-621)tCc>tTc p.S207F RFT1_ENST00000394738.3_Missense_Mutation_p.S168F NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 207 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) TGATTCTGGGGAACCCAGTAA 0.328000 37 120 0 0 0.005524 0 0 SNRPC 6631 broad.mit.edu 37 6 34738119 34738119 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:34738119C>T ENST00000374017.3 + 4 652 c.365C>T c.(364-366)cCc>cTc p.P122L SNRPC_ENST00000374018.1_Missense_Mutation_p.P60L|SNRPC_ENST00000244520.5_Missense_Mutation_p.P101L|SNRPC_ENST00000474635.1_3'UTR P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 101 spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 GGGGGCCCTCCCATGATGCCA 0.502000 34 97 0 0 0.004878 0 0 SSPO 23145 broad.mit.edu 37 7 149483265 149483265 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:149483265C>T ENST00000378016.2 + 0 3333 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGCCTCTTCCTGCTGCTCT 0.657000 7 14 0 0 0.003080 0 0 KIAA1324 57535 broad.mit.edu 37 1 109745596 109745596 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:109745596C>T ENST00000369939.3 + 22 3187 c.3004C>T c.(3004-3006)Ctg>Ttg p.L1002L KIAA1324_ENST00000529753.1_Silent_p.L915L|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 1002 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CTCAGTGCCGCTGAAGACATC 0.567000 180 199 0 0 0.014410 0 0 DSCAM 1826 broad.mit.edu 37 21 41719705 41719705 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:41719705C>T ENST00000400454.1 - 6 1579 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 368 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E368Q(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATAAGGTTTTCGTGGTTGATC 0.512000 76 286 0 0 0.014410 0 0 OR10K1 391109 broad.mit.edu 37 1 158435933 158435933 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158435933C>T ENST00000289451.2 + 1 662 c.582C>T c.(580-582)ttC>ttT p.F194F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 194 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) ACTCCGGCTTCAGTCAGCTGG 0.478000 46 185 0 0 0.014410 0 0 OR52N2 390077 broad.mit.edu 37 11 5842052 5842052 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5842052C>T ENST00000317037.2 + 1 509 c.487C>T c.(487-489)Ctc>Ttc p.L163F TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 163 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) CCCATTCACTCTCCTCACCAA 0.537000 21 92 0 0 0.008871 0 0 TFPI 7035 broad.mit.edu 37 2 188343432 188343432 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:188343432C>T ENST00000409676.1 - 8 991 c.727G>A c.(727-729)Gga>Aga p.G243R AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.G243R|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 0 BPTI/Kunitz inhibitor 3. 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) CTATCCAATCCTAGAAAGAAC 0.353000 11 32 0 0 0.008291 0 0 COL24A1 255631 broad.mit.edu 37 1 86306910 86306910 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:86306910C>T ENST00000370571.2 - 42 3988 c.3622G>A c.(3622-3624)Gaa>Aaa p.E1208K COL24A1_ENST00000436319.1_Missense_Mutation_p.E1208K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1208 Collagen-like 13. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTACTGGTTCACCTCGAGGC 0.328000 20 23 0 0 0.014323 0 0 DDR1 780 broad.mit.edu 37 6 30862383 30862383 + Missense_Mutation SNP C C T rs150721017 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:30862383C>T ENST00000324771.8 + 13 1996 c.1448C>T c.(1447-1449)cCg>cTg p.P483L DDR1_ENST00000418800.2_Missense_Mutation_p.P483L|DDR1_ENST00000376570.4_Missense_Mutation_p.P483L|DDR1_ENST00000508312.1_Missense_Mutation_p.P501L|DDR1_ENST00000454612.2_Missense_Mutation_p.P483L|DDR1_ENST00000376575.3_Missense_Mutation_p.P483L|DDR1_ENST00000452441.1_Missense_Mutation_p.P483L|DDR1_ENST00000361741.4_Missense_Mutation_p.R187C|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.P483L|DDR1_ENST00000513240.1_Missense_Mutation_p.P483L|DDR1_ENST00000376567.2_Missense_Mutation_p.P483L|DDR1_ENST00000376569.3_Missense_Mutation_p.P483L Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 483 Gly/Pro-rich. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) GAGCCACCCCCGTACCAGGAG 0.627000 40 152 0 0 0.011902 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323922 79323922 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:79323922C>T ENST00000428286.1 - 8 3391 c.2191G>A c.(2191-2193)Gaa>Aaa p.E731K PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1090K Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1090 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGGTTTGTTTCATTGTACAGT 0.517000 40 104 0 0 0.009718 0 0 SGSM1 129049 broad.mit.edu 37 22 25264407 25264407 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:25264407C>T ENST00000400358.4 + 11 1116 c.1059C>T c.(1057-1059)ttC>ttT p.F353F SGSM1_ENST00000400359.4_Silent_p.F353F NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 353 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 CCTTCCGCTTCCCCAAGGGCG 0.652000 39 105 0 0 0.006230 0 0 RNF2 6045 broad.mit.edu 37 1 185056719 185056719 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:185056719C>T ENST00000367510.3 + 2 322 c.34C>T c.(34-36)Cca>Tca p.P12S RNF2_ENST00000367509.4_Missense_Mutation_p.P12S NM_007212.3 NP_009143.1 Q99496 RING2_HUMAN ring finger protein 2 12 Interaction with HIP2. histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) CGGAACTCAACCATTAAGCAA 0.403000 77 123 0 0 0.014410 0 0 INHBA 3624 broad.mit.edu 37 7 41729931 41729931 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:41729931C>T ENST00000242208.4 - 3 844 c.598G>A c.(598-600)Gag>Aag p.E200K AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E200K NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 200 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 TCACTCCTCTCCCCCTTTAAG 0.582000 TSP Lung(11;0.080) 12 52 0 0 0.013537 0 0 CES5A 221223 broad.mit.edu 37 16 55905641 55905641 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:55905641G>A ENST00000521992.1 - 4 545 c.400C>T c.(400-402)Caa>Taa p.Q134* CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Nonsense_Mutation_p.Q105*|CES5A_ENST00000520435.1_Nonsense_Mutation_p.Q105*|CES5A_ENST00000319165.9_Nonsense_Mutation_p.Q105*|CES5A_ENST00000518005.1_5'UTR NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 105 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGCATATGTTGATCTAAGAGC 0.512000 6 43 0 0 0.001984 0 0 CEP104 9731 broad.mit.edu 37 1 3753955 3753955 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:3753955G>A ENST00000378230.3 - 9 1344 c.1020C>T c.(1018-1020)ttC>ttT p.F340F NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 340 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TTTCCTGAAGGAAAGGTTCTG 0.478000 24 70 0 0 0.003330 0 0 SSPO 23145 broad.mit.edu 37 7 149516415 149516415 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:149516415C>T ENST00000378016.2 + 0 11818 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGCCCTGGCCCTGGCTGTGG 0.682000 15 45 0 0 0.002450 0 0 G3BP1 10146 broad.mit.edu 37 5 151179453 151179453 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:151179453C>T ENST00000394123.3 + 9 992 c.847C>T c.(847-849)Cgt>Tgt p.R283C G3BP1_ENST00000543466.1_Missense_Mutation_p.R101C|G3BP1_ENST00000356245.3_Missense_Mutation_p.R283C Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 283 Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) TTTTCAGCCCCGTCCAGAGTC 0.388000 17 20 0 0 0.004990 0 0 VNN1 8876 broad.mit.edu 37 6 133013660 133013660 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:133013660C>T ENST00000367928.4 - 5 903 c.890G>A c.(889-891)gGa>gAa p.G297E NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 297 CN hydrolase. 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 p.G297V(1) 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) GAGGAGTTTTCCCTCTTCTGT 0.438000 11 20 0 0 0.008291 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011051 23011051 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:23011051G>A ENST00000390304.2 + 0 152 AGACAGCCAGGATCACCTGCT 0.542000 52 177 0 0 0.014410 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939071 2939071 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:2939071C>T ENST00000378404.2 + 1 1026 c.821C>T c.(820-822)cCc>cTc p.P274L NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 274 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) AGCCAGAGCCCCGGGCTCTCG 0.632000 50 168 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9061105 9061105 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9061105C>T ENST00000397910.4 - 3 26544 c.26341G>A c.(26341-26343)Gga>Aga p.G8781R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8783 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 TCTGCTGATCCTGTCGTGGTG 0.512000 39 80 0 0 0.008740 0 0 ZZEF1 23140 broad.mit.edu 37 17 3990781 3990781 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:3990781G>A ENST00000381638.2 - 14 2413 c.2289C>T c.(2287-2289)ttC>ttT p.F763F ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 763 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CAAGACCCGCGAAGTCCAGAA 0.303000 27 41 0 0 0.009535 0 0 TRO 7216 broad.mit.edu 37 X 54951462 54951462 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:54951462C>T ENST00000173898.7 + 6 1558 c.1446C>T c.(1444-1446)ttC>ttT p.F482F TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375022.4_Silent_p.F482F|TRO_ENST00000375041.2_Silent_p.F85F|TRO_ENST00000420798.2_Silent_p.F13F|TRO_ENST00000399736.1_Silent_p.F85F|TRO_ENST00000319167.8_Silent_p.F482F NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 482 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 ATGAATATTTCCCAGAAATCA 0.502000 20 27 0 0 0.002780 0 0 NCAM2 4685 broad.mit.edu 37 21 22652919 22652919 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:22652919C>T ENST00000400546.1 + 2 326 c.77C>T c.(76-78)tCa>tTa p.S26L NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Missense_Mutation_p.S51L|NCAM2_ENST00000284894.7_Intron NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 26 Ig-like C2-type 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GTGACAATTTCACTTAGCAAA 0.323000 11 18 0 0 0.001855 0 0 KCNA3 3738 broad.mit.edu 37 1 111216544 111216544 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:111216544G>A ENST00000369769.2 - 1 1111 c.888C>T c.(886-888)ttC>ttT p.F296F NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 296 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTCCACCACGAAGAAGGGAT 0.597000 40 223 0 0 0.007835 0 0 C3orf56 285311 broad.mit.edu 37 3 126915582 126915582 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:126915582C>T ENST00000398112.1 + 2 294 c.54C>T c.(52-54)ttC>ttT p.F18F NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) GCCGTGCCTTCGAGGCCTCCG 0.612000 14 29 0 0 0.002450 0 0 CEACAM21 90273 broad.mit.edu 37 19 42085753 42085753 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:42085753G>A ENST00000407170.2 + 4 901 c.88G>A c.(88-90)Gag>Aag p.E30K CEACAM21_ENST00000401445.2_Missense_Mutation_p.E158K|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.E158K Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 158 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CACAGTCACAGAGAAGGGCTC 0.537000 23 40 0 0 0.003330 0 0 TRAF1 7185 broad.mit.edu 37 9 123675969 123675969 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:123675969G>A ENST00000373887.3 - 5 2787 c.342C>T c.(340-342)tcC>tcT p.S114S TRAF1_ENST00000546084.1_5'UTR|TRAF1_ENST00000540010.1_Silent_p.S114S NM_005658.4 NP_005649.1 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 114 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 GGTTTAGGTGGGAGGTCTGGG 0.597000 43 117 0 0 0.014410 0 0 MAPK4 5596 broad.mit.edu 37 18 48252376 48252376 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:48252376C>T ENST00000400384.2 + 5 1934 c.898C>T c.(898-900)Cgc>Tgc p.R300C MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.R89C NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 300 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CCCCATGGATCGCCTAACAGC 0.547000 53 99 0 0 0.014410 0 0 PLIN4 729359 broad.mit.edu 37 19 4511331 4511331 + Nonsense_Mutation SNP G G A rs71263980 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:4511331G>A ENST00000301286.3 - 3 2598 c.2599C>T c.(2599-2601)Cag>Tag p.Q867* NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 867 27 X 33 AA approximate tandem repeat. 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 AGGCCCCCCTGGACGGCCCCT 0.572000 42 185 0 0 0.014410 0 0 CD48 962 broad.mit.edu 37 1 160681539 160681539 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:160681539A>G ENST00000368045.3 - 1 54 c.15T>C c.(13-15)ggT>ggC p.G5G CD48_ENST00000368046.3_Silent_p.G5G P09326 CD48_HUMAN CD48 molecule 5 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ACGAATCCCAACCTCTGGAGC 0.512000 9 39 0 0 0.004482 0 0 SNHG23 100507242 broad.mit.edu 37 14 101423559 101423559 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:101423559G>A ENST00000556637.1 + 0 464 SNORD114-6_ENST00000364393.1_RNA TATATGTCTGGAACTCTGAGG 0.333000 5 30 0 0 0.001984 0 0 SPTA1 6708 broad.mit.edu 37 1 158615104 158615104 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158615104G>A ENST00000368148.3 - 29 4248 c.4068C>T c.(4066-4068)atC>atT p.I1356I SPTA1_ENST00000368147.3_Silent_p.I1356I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1356 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) GCCCACTGTCGATAAGTTCTG 0.498000 23 71 0 0 0.014323 0 0 DAB1 1600 broad.mit.edu 37 1 57480957 57480957 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57480957G>A ENST00000371236.2 - 12 1306 c.1043C>T c.(1042-1044)cCt>cTt p.P348L DAB1_ENST00000420954.2_Missense_Mutation_p.P346L|DAB1_ENST00000371231.1_Missense_Mutation_p.P381L|DAB1_ENST00000439789.2_Missense_Mutation_p.P262L|DAB1_ENST00000414851.2_Missense_Mutation_p.P330L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P348L O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 381 cell differentiation|nervous system development 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 CTGAGTGGCAGGAAAGAGACC 0.637000 42 136 0 0 0.007835 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357120 104357120 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:104357120C>T ENST00000374806.1 - 1 163 c.93G>A c.(91-93)aaG>aaA p.K31K GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 28 EF-hand 1. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) AGTCCAACTTCTTAAACCTCC 0.547000 55 136 0 0 0.014410 0 0 FASTK 10922 broad.mit.edu 37 7 150776851 150776851 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:150776851G>A ENST00000540185.1 - 2 743 c.139C>T c.(139-141)Cct>Tct p.P47S FASTK_ENST00000353841.2_Intron|FASTK_ENST00000482571.1_Missense_Mutation_p.P81S|FASTK_ENST00000297532.6_Missense_Mutation_p.P81S|FASTK_ENST00000489884.1_Intron Q14296 FASTK_HUMAN Fas-activated serine/threonine kinase 81 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) CCTTGCACAGGACCTGCACTG 0.667000 5 17 0 0 0.000602 0 0 SCG2 7857 broad.mit.edu 37 2 224463214 224463214 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:224463214C>T ENST00000305409.2 - 2 1019 c.787G>A c.(787-789)Gaa>Aaa p.E263K NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 263 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) CTCACCTCTTCCTGGGTTTGA 0.433000 80 269 0 0 0.014410 0 0 PLOD1 5351 broad.mit.edu 37 1 12027068 12027068 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12027068C>T ENST00000196061.4 + 16 1702 c.1675C>T c.(1675-1677)Ccc>Tcc p.P559S PLOD1_ENST00000376369.3_Missense_Mutation_p.P606S NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 559 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CTATTGGTTCCCCATCTTCAC 0.607000 40 166 0 0 0.014410 0 0 MIR1302-3 100302128 broad.mit.edu 37 2 114340638 114340638 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:114340638C>T ENST00000408128.1 - 0 35 NR_031632.1 cgaaattattcgttgtttatc 0.358000 13 284 0 0 0.002780 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905279 74905279 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:74905279G>A ENST00000370891.2 + 22 2303 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K 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 16 61 0 0 0.004007 0 0 CDS1 1040 broad.mit.edu 37 4 85564253 85564253 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:85564253G>A ENST00000295887.5 + 11 1532 c.1109G>A c.(1108-1110)gGa>gAa p.G370E NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 370 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) GGCCCATTTGGAGGCTTCTTT 0.388000 44 103 0 0 0.013114 0 0 AHNAK 79026 broad.mit.edu 37 11 62291642 62291642 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:62291642G>A ENST00000378024.4 - 5 10521 c.10247C>T c.(10246-10248)tCt>tTt p.S3416F AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3416 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) GTCAGGCATAGAAACTTTGGG 0.403000 63 60 0 0 0.014410 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386570 56386570 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:56386570G>A ENST00000355701.3 - 22 4933 c.4063C>T c.(4063-4065)Cga>Tga p.R1355* BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.R1295*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.R1355* NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1355 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCAGGGTCTCGGGAAGAACAG 0.612000 41 107 0 0 0.006999 0 0 GOLGA3 2802 broad.mit.edu 37 12 133385072 133385072 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:133385072G>A ENST00000204726.3 - 5 1141 c.583C>T c.(583-585)Cca>Tca p.P195S GOLGA3_ENST00000456883.2_Missense_Mutation_p.P195S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P195S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P195S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P195S NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 195 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AAGTTTTCTGGGTTTAACATG 0.468000 175 694 0 0 0.014410 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422814 42422814 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:42422814C>T ENST00000328823.9 + 6 590 c.559C>T c.(559-561)Ccc>Tcc p.P187S WBP2NL_ENST00000543212.1_Missense_Mutation_p.P113S NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 187 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 AGCCCCACCTCCCGGATACGG 0.517000 131 375 0 0 0.014410 0 0 TRPC7 57113 broad.mit.edu 37 5 135602062 135602062 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:135602062G>A ENST00000513104.1 - 5 1473 c.1191C>T c.(1189-1191)atC>atT p.I397I TRPC7_ENST00000426057.2_Silent_p.I281I|TRPC7_ENST00000355180.3_Silent_p.I336I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 397 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) ATCCCAAGAAGATTGTAAAAG 0.403000 22 30 0 0 0.012319 0 0 UGT2B11 10720 broad.mit.edu 37 4 70078291 70078291 + Splice_Site SNP C C T rs145988491 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:70078291C>T ENST00000446444.1 - 2 878 c.870_splice c.e2+1 p.K290_splice RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 290 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 GTATGTTTACCTTAGGTAGGG 0.358000 7 68 0 0 0.001984 0 0 JAG2 3714 broad.mit.edu 37 14 105612287 105612287 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:105612287A>G ENST00000331782.3 - 23 3136 c.2733T>C c.(2731-2733)tgT>tgC p.C911C JAG2_ENST00000347004.2_Silent_p.C873C NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 911 VWFC. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CGGCCAGCAGACAAGGCTTCC 0.677000 4 12 0 0 0.001984 0 0 DNAH8 1769 broad.mit.edu 37 6 38704843 38704843 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:38704843G>A ENST00000359357.3 + 4 366 c.111_splice c.e4-1 p.E38_splice DNAH8_ENST00000449981.2_Splice_Site_p.E255_splice|DNAH8_ENST00000441566.1_Splice_Site_p.E38_splice 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 ACCCTTTCAGGAAGCGCTCTT 0.343000 25 77 0 0 0.003330 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046371 42046371 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:42046371C>T ENST00000372584.1 - 3 5112 c.4098G>A c.(4096-4098)acG>acA p.T1366T HIVEP3_ENST00000372583.1_Silent_p.T1366T|HIVEP3_ENST00000429157.2_Silent_p.T1366T|HIVEP3_ENST00000247584.5_Silent_p.T1366T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1366 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) CACATACAGTCGTCCCCTTTG 0.547000 47 148 0 0 0.011902 0 0 AKAP4 8852 broad.mit.edu 37 X 49957961 49957961 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:49957961G>A ENST00000376056.2 - 5 1526 c.1376C>T c.(1375-1377)tCc>tTc p.S459F AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Missense_Mutation_p.S459F|AKAP4_ENST00000358526.2_Missense_Mutation_p.S468F|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 468 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TTTCATGGTGGAGAATTCAAG 0.438000 54 69 0 0 0.014410 0 0 CYTIP 9595 broad.mit.edu 37 2 158272206 158272206 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:158272206C>T ENST00000264192.3 - 8 1184 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K CYTIP_ENST00000540637.1_Missense_Mutation_p.E249K NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 355 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CGACTTTCTTCCTCTTCCACA 0.473000 19 48 0 0 0.008871 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457663 66457663 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:66457663G>A ENST00000533211.1 - 28 5988 c.5657C>T c.(5656-5658)gCc>gTc p.A1886V SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1886V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1886V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1886 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCAGGCCTCGGCCACGGCCTG 0.677000 48 52 0 0 0.014410 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579937 35579937 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:35579937C>T ENST00000373330.1 + 11 2680 c.2506C>T c.(2506-2508)Cat>Tat p.H836Y ZMYM1_ENST00000359858.4_Missense_Mutation_p.H836Y|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 836 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) TATAGCAAGCCATTCTTCAAA 0.353000 21 91 0 0 0.008871 0 0 MYH2 4620 broad.mit.edu 37 17 10426966 10426966 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10426966C>T ENST00000245503.5 - 37 5703 c.5319G>A c.(5317-5319)gaG>gaA p.E1773E CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1773E|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1773 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 TCTTCAGCTCCTCAGCCATCA 0.493000 56 92 0 0 0.014410 0 0 SLC25A13 10165 broad.mit.edu 37 7 95822397 95822397 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:95822397G>A ENST00000416240.2 - 6 757 c.567C>T c.(565-567)acC>acT p.T189T SLC25A13_ENST00000265631.5_Silent_p.T189T|SLC25A13_ENST00000542654.1_Silent_p.T81T NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 189 EF-hand 4. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GGGGGCGGATGGTGACCATGA 0.458000 18 61 0 0 0.008871 0 0 ZNF536 9745 broad.mit.edu 37 19 31039215 31039215 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:31039215T>A ENST00000355537.3 + 4 2836 c.2689T>A c.(2689-2691)Ttc>Atc p.F897I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 897 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) AAGCACCCACTTCTCTGAGAT 0.517000 104 156 0 0 0.014410 0 0 HUWE1 10075 broad.mit.edu 37 X 53566728 53566728 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:53566728G>A ENST00000342160.3 - 74 11979 c.11522C>T c.(11521-11523)cCa>cTa p.P3841L HUWE1_ENST00000262854.6_Missense_Mutation_p.P3841L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3841 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TAACTCAGGTGGTCTTTCTTC 0.522000 23 24 0 0 0.002780 0 0 LMX1A 4009 broad.mit.edu 37 1 165183036 165183036 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:165183036C>T ENST00000342310.3 - 5 893 c.511G>A c.(511-513)Gaa>Aaa p.E171K LMX1A_ENST00000294816.2_Missense_Mutation_p.E171K|LMX1A_ENST00000367893.4_Missense_Mutation_p.E171K NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 171 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AGACTTTCTTCATCATCACTT 0.498000 122 192 0 0 0.014410 0 0 NEGR1 257194 broad.mit.edu 37 1 72241978 72241978 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:72241978G>A ENST00000357731.4 - 3 651 c.412C>T c.(412-414)Cct>Tct p.P138S NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.P136S|NEGR1_ENST00000306821.3_Missense_Mutation_p.P10S NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 138 cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) ATCTTAGGAGGAACTGAAATG 0.353000 5 17 0 0 0.001168 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872320 51872320 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:51872320G>A ENST00000371497.5 + 2 3210 c.2323G>A c.(2323-2325)Gcc>Acc p.A775T TSHZ2_ENST00000603338.2_Missense_Mutation_p.A772T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A772T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 775 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAGCAAGAAAGCCGAGTCCTC 0.562000 69 165 0 0 0.014410 0 0 CASS4 57091 broad.mit.edu 37 20 55033727 55033727 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:55033727C>T ENST00000371336.3 + 6 2486 c.2285C>T c.(2284-2286)gCc>gTc p.A762V CASS4_ENST00000360314.3_Missense_Mutation_p.A762V|CASS4_ENST00000434344.1_Missense_Mutation_p.A325V NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 762 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 CCCAGCCCTGCCGCGCTGGGG 0.637000 12 36 0 0 0.010729 0 0 FBXO21 23014 broad.mit.edu 37 12 117612502 117612502 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:117612502G>A ENST00000427718.2 - 5 767 c.693C>T c.(691-693)acC>acT p.T231T FBXO21_ENST00000330622.5_Silent_p.T231T|FBXO21_ENST00000549689.1_5'UTR NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 231 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) TGCCCCGAAGGGTTTTGCAAA 0.478000 18 62 0 0 0.006122 0 0 ANK3 288 broad.mit.edu 37 10 61835056 61835056 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:61835056C>T ENST00000280772.1 - 37 5774 c.5583G>A c.(5581-5583)acG>acA p.T1861T 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) 1861 Ser-rich. 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 GATGTGTCTCCGTAGTCAATG 0.423000 34 57 0 0 0.003755 0 0 NLRP4 147945 broad.mit.edu 37 19 56369135 56369135 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56369135G>A ENST00000301295.6 + 3 798 c.376G>A c.(376-378)Gaa>Aaa p.E126K NLRP4_ENST00000346986.5_Missense_Mutation_p.E126K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E51K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 126 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTTTGAGGAGGAAGTCAAGCA 0.468000 58 79 0 0 0.014410 0 0 SLC13A2 9058 broad.mit.edu 37 17 26817327 26817327 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:26817327C>T ENST00000444914.3 + 3 654 c.234C>T c.(232-234)atC>atT p.I78I SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000314669.5_Intron NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 66 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) aatGGCAGATCATTCAGAGAC 0.502000 21 76 0 0 0.008871 0 0 ADAM2 2515 broad.mit.edu 37 8 39644532 39644532 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:39644532C>T ENST00000265708.4 - 10 955 c.852G>A c.(850-852)ggG>ggA p.G284G ADAM2_ENST00000347580.4_Silent_p.G265G|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.G284G NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 284 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CACACATCTTCCCTTGAAAGG 0.294000 7 34 0 0 0.001984 0 0 BTBD16 118663 broad.mit.edu 37 10 124094426 124094426 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:124094426C>T ENST00000368994.2 + 14 1449 c.1198C>T c.(1198-1200)Cta>Tta p.L400L BTBD16_ENST00000495370.2_3'UTR|BTBD16_ENST00000260723.4_Silent_p.L399L Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 399 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) AACGATTGCTCTATATGGATT 0.363000 63 89 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 8994510 8994510 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:8994510G>A ENST00000397910.4 - 64 41585 c.41382C>T c.(41380-41382)acC>acT p.T13794T MUC16_ENST00000380951.5_Silent_p.T435T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13796 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 TGAAGTTGAGGGTGAATAGTA 0.453000 33 108 0 0 0.012213 0 0 SPANXN5 494197 broad.mit.edu 37 X 52826386 52826386 + Translation_Start_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:52826386C>T ENST00000375511.3 - 1 755 c.3G>A c.(1-3)atG>atA p.M1I NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 1 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) TGGGCTTTTCCATGATTCTGG 0.473000 33 97 0 0 0.005524 0 0 OR2F1 26211 broad.mit.edu 37 7 143657596 143657596 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:143657596C>T ENST00000392899.1 + 1 570 c.533C>T c.(532-534)tCc>tTc p.S178F NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) GATCACATATCCTGTGAACTC 0.502000 22 75 0 0 0.014323 0 0 TBC1D19 55296 broad.mit.edu 37 4 26744166 26744166 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:26744166C>G ENST00000264866.4 + 18 1542 c.1264C>G c.(1264-1266)Ctt>Gtt p.L422V TBC1D19_ENST00000511789.1_Missense_Mutation_p.L357V NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 422 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) TGAAACTCTTCTTCAAACTTA 0.328000 22 168 0 0 0.005443 0 0 FANK1 92565 broad.mit.edu 37 10 127685183 127685183 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:127685183G>A ENST00000368695.1 + 5 567 c.445G>A c.(445-447)Gga>Aga p.G149R FANK1_ENST00000368693.1_Missense_Mutation_p.G155R NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 155 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TGCCCAGAAAGGATACACCAG 0.403000 121 163 0 0 0.014410 0 0 MNDA 4332 broad.mit.edu 37 1 158817557 158817557 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158817557G>A ENST00000368141.4 + 6 1288 c.1027G>A c.(1027-1029)Gat>Aat p.D343N NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 343 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.D343Y(1) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) TGAAATACAGGATAATACAGG 0.373000 48 65 0 0 0.014410 0 0 GREB1 9687 broad.mit.edu 37 2 11770145 11770145 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:11770145C>T ENST00000381486.2 + 26 4821 c.4521C>T c.(4519-4521)ttC>ttT p.F1507F GREB1_ENST00000234142.5_Silent_p.F1507F|GREB1_ENST00000396123.1_Silent_p.F505F NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1507 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AGCTGCACTTCATCATCCCCA 0.567000 64 135 0 0 0.014410 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632399 156632399 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:156632399C>T ENST00000296518.7 + 6 1291 c.1082C>T c.(1081-1083)tCa>tTa p.S361L GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S361L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S361L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S361L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S103L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S361L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S361L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 361 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) AAAAAATCTTCAAGGGTAAGG 0.338000 5 57 0 0 0.000602 0 0 COL7A1 1294 broad.mit.edu 37 3 48619788 48619788 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:48619788C>T ENST00000328333.8 - 46 4710 c.4603G>A c.(4603-4605)Gag>Aag p.E1535K COL7A1_ENST00000454817.1_Missense_Mutation_p.E1535K NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1535 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGACCAGGCTCCCCCTGTGGA 0.607000 142 197 0 0 0.014410 0 0 ESR1 2099 broad.mit.edu 37 6 152420037 152420037 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:152420037C>T ENST00000440973.1 + 10 2094 c.1724C>T c.(1723-1725)tCa>tTa p.S575L ESR1_ENST00000338799.5_Missense_Mutation_p.S575L|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.S575L|ESR1_ENST00000443427.1_Missense_Mutation_p.S575L|ESR1_ENST00000406599.1_Missense_Mutation_p.S314L|ESR1_ENST00000456483.2_Missense_Mutation_p.S463L NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 575 Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGCTCTACTTCATCGCATTCC 0.602000 22 47 0 0 0.003330 0 0 FAT4 79633 broad.mit.edu 37 4 126411285 126411285 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:126411285G>A ENST00000394329.3 + 17 13321 c.13308G>A c.(13306-13308)caG>caA p.Q4436Q FAT4_ENST00000335110.5_Silent_p.Q2677Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4436 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 ACCCGTGCCAGAATGGTGGCA 0.602000 44 77 0 0 0.008740 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039616 36039616 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:36039616C>T ENST00000282507.3 - 5 1139 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A2_ENST00000545528.1_Silent_p.V44V|UGT3A2_ENST00000513300.1_Silent_p.V312V NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 346 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGCAG 0.532000 42 101 0 0 0.010771 0 0 CCDC172 374355 broad.mit.edu 37 10 118100268 118100268 + Missense_Mutation SNP C C T rs117513116 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:118100268C>T ENST00000333254.3 + 4 439 c.188C>T c.(187-189)tCc>tTc p.S63F CCDC172_ENST00000497093.1_Intron NM_198515.2 NP_940917.1 coiled-coil domain containing 172 TTTGAAAAATCCTTCTTCTTA 0.294000 6 16 0 0 0.001168 0 0 IGSF1 3547 broad.mit.edu 37 X 130419851 130419851 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:130419851G>A ENST00000370904.1 - 10 1152 c.242C>T c.(241-243)tCa>tTa p.S81L IGSF1_ENST00000370910.1_Missense_Mutation_p.S81L|IGSF1_ENST00000370900.1_Missense_Mutation_p.S90L|IGSF1_ENST00000370903.3_Missense_Mutation_p.S90L|IGSF1_ENST00000370901.4_Missense_Mutation_p.S90L|IGSF1_ENST00000361420.3_Missense_Mutation_p.S90L Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 90 Ig-like C2-type 1. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TATAAGGAATGAAACTTGGAA 0.512000 78 129 0 0 0.014410 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594140 140594140 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140594140C>T ENST00000341948.4 + 1 632 c.445C>T c.(445-447)Cct>Tct p.P149S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 149 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCAGTCCTCCTGGGACTAC 0.423000 74 115 0 0 0.014410 0 0 NPSR1 387129 broad.mit.edu 37 7 34851439 34851439 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:34851439C>T ENST00000360581.1 + 4 570 c.442C>T c.(442-444)Cat>Tat p.H148Y NPSR1_ENST00000381539.3_Missense_Mutation_p.H148Y|NPSR1_ENST00000531252.1_Missense_Mutation_p.H137Y|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.H148Y NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 148 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AGACAGATACCATGCCATCGT 0.483000 47 113 0 0 0.014410 0 0 PRPF39 55015 broad.mit.edu 37 14 45581633 45581633 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:45581633C>G ENST00000355765.6 + 11 1855 c.1685C>G c.(1684-1686)cCt>cGt p.P562R NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 562 mRNA processing|RNA splicing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 GGTTCATTACCTATTAAAATG 0.279000 6 29 0 0 0.001984 0 0 COL5A3 50509 broad.mit.edu 37 19 10114820 10114820 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:10114820C>T ENST00000264828.3 - 5 681 c.594_splice c.e5-1 p.G199_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 199 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTGAATGTCTCCCTGGGGGTT 0.622000 26 78 0 0 0.004656 0 0 KIAA0947 23379 broad.mit.edu 37 5 5457799 5457799 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:5457799C>T ENST00000296564.7 + 12 1268 c.1046C>T c.(1045-1047)tCg>tTg p.S349L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 349 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CCAGTGCCCTCGCCCCCTCCG 0.448000 119 270 0 0 0.014410 0 0 CLCA2 9635 broad.mit.edu 37 1 86898134 86898134 + Nonsense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:86898134A>T ENST00000370565.4 + 5 829 c.667A>T c.(667-669)Aaa>Taa p.K223* NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 223 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TAAGCTTTTTAAAGAAGGATG 0.363000 100 104 0 0 0.014410 0 0 SULT6B1 391365 broad.mit.edu 37 2 37406707 37406707 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:37406707G>A ENST00000535679.1 - 4 422 c.423C>T c.(421-423)aaC>aaT p.N141N SULT6B1_ENST00000407963.1_Silent_p.N103N|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Silent_p.N103N Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 141 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) TATCTTTAGGGTTTCGAAATA 0.353000 45 120 0 0 0.013114 0 0 SEPT14 346288 broad.mit.edu 37 7 55872951 55872951 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:55872951C>T ENST00000388975.3 - 9 1235 c.1119_splice c.e9+1 p.E373_splice NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 373 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) CAGTACTAACCTCTTTTTCAG 0.338000 7 78 0 0 0.004482 0 0 NDUFB9 4715 broad.mit.edu 37 8 125555409 125555409 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:125555409C>T ENST00000522532.1 + 2 230 c.183C>T c.(181-183)acC>acT p.T61T NDUFB9_ENST00000518008.1_Silent_p.T61T|NDUFB9_ENST00000517367.1_Silent_p.T50T|NDUFB9_ENST00000276689.3_Silent_p.T61T Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 61 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) CGAAGGCCACCCAGCTGCTGA 0.473000 23 82 0 0 0.014323 0 0 PTAR1 375743 broad.mit.edu 37 9 72333278 72333278 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:72333278G>A ENST00000377200.5 - 5 1035 c.1033C>T c.(1033-1035)Ctg>Ttg p.L345L PTAR1_ENST00000340434.4_Silent_p.L397L Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat containing 1 397 protein prenylation protein prenyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2) 5 AAAGTAACCAGCCATTTCCTG 0.428000 3 23 0 0 0.004672 0 0 DENND1A 57706 broad.mit.edu 37 9 126219702 126219702 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:126219702G>A ENST00000373624.2 - 15 1312 c.1111C>T c.(1111-1113)Cga>Tga p.R371* DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Nonsense_Mutation_p.R113*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.R371*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.R339*|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.R341*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.R339* NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 371 dDENN. 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 AGATCTAATCGACCATCAATA 0.428000 51 130 0 0 0.014410 0 0 STT3A 3703 broad.mit.edu 37 11 125476198 125476198 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:125476198C>T ENST00000392708.4 + 8 777 c.618C>T c.(616-618)gtC>gtT p.V206V STT3A_ENST00000529196.1_Silent_p.V206V|STT3A_ENST00000531491.1_Silent_p.V114V NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 206 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) CATCATAGGTCTCGTCATGGG 0.463000 52 103 0 0 0.014410 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161146971 161146971 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:161146971G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 GGAGCCAGTCGAACATATGCC 0.418000 31 117 0 0 0.003755 0 0 SLC24A4 123041 broad.mit.edu 37 14 92953042 92953042 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:92953042G>A ENST00000532405.1 + 14 1681 c.1455G>A c.(1453-1455)ccG>ccA p.P485P SLC24A4_ENST00000393265.2_Silent_p.P421P|SLC24A4_ENST00000531433.1_Silent_p.P466P|SLC24A4_ENST00000298877.1_Silent_p.P468P|SLC24A4_ENST00000351924.5_Silent_p.P449P Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 485 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TTGGGATCCCGGATGTCATCA 0.488000 20 47 0 0 0.002780 0 0 ADAM22 53616 broad.mit.edu 37 7 87811273 87811273 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:87811273G>A ENST00000398204.4 + 28 2725 c.2401_splice c.e28-1 p.G801_splice ADAM22_ENST00000398201.4_Splice_Site_p.G837_splice|ADAM22_ENST00000398209.3_Splice_Site_p.G801_splice|ADAM22_ENST00000315984.7_Splice_Site_p.G801_splice|ADAM22_ENST00000265727.7_Splice_Site_p.G837_splice NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 837 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TCTTTTTCAGGTAACCTGGGA 0.398000 15 53 0 0 0.004990 0 0 ADAM33 80332 broad.mit.edu 37 20 3655422 3655422 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:3655422C>T ENST00000356518.2 - 5 649 c.408G>A c.(406-408)atG>atA p.M136I ADAM33_ENST00000350009.2_Missense_Mutation_p.M136I|ADAM33_ENST00000379861.4_Missense_Mutation_p.M136I NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 136 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GAGCTCACCTCATCCCAGAGC 0.632000 32 85 0 0 0.003755 0 0 ADCY10 55811 broad.mit.edu 37 1 167852757 167852757 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:167852757G>A ENST00000367848.1 - 9 1159 c.662C>T c.(661-663)gCc>gTc p.A221V ADCY10_ENST00000545172.1_Missense_Mutation_p.A160V|ADCY10_ENST00000367851.4_Missense_Mutation_p.A313V Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 313 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 ATCCTGGATGGCTGGGCCTAT 0.443000 50 196 0 0 0.014410 0 0 NCR1 9437 broad.mit.edu 37 19 55417935 55417935 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:55417935A>G ENST00000594765.1 + 3 150 c.125A>G c.(124-126)gAa>gGa p.E42G NCR1_ENST00000598576.1_Missense_Mutation_p.E30G|NCR1_ENST00000338835.5_Missense_Mutation_p.E42G|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E42G|NCR1_ENST00000291890.4_Missense_Mutation_p.E42G|NCR1_ENST00000357397.5_Intron O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 42 Ig-like 1. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GTTCCAAAGGAAAAGCAAGTG 0.542000 63 107 0 0 0.014410 0 0 FOXA2 3170 broad.mit.edu 37 20 22563277 22563277 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:22563277G>A ENST00000419308.2 - 2 787 c.585C>T c.(583-585)ttC>ttT p.F195F FOXA2_ENST00000377115.4_Silent_p.F195F|FOXA2_ENST00000319993.4_Silent_p.F201F NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 195 cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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 breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) TCTGCCGGTAGAAGGGGAAGA 0.597000 48 147 0 0 0.014410 0 0 NT5DC2 64943 broad.mit.edu 37 3 52558517 52558517 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:52558517G>A ENST00000307076.4 - 14 1932 c.1532C>T c.(1531-1533)cCc>cTc p.P511L NT5DC2_ENST00000459839.1_Missense_Mutation_p.P523L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.P452L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.P548L NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 511 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) ACCAAGGAAGGGGGTCTTCAT 0.612000 54 288 0 0 0.014410 0 0 KIF20B 9585 broad.mit.edu 37 10 91518632 91518632 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:91518632C>T ENST00000416354.1 + 27 4835 c.4763C>T c.(4762-4764)tCt>tTt p.S1588F KIF20B_ENST00000260753.4_Missense_Mutation_p.S1518F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1558F|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1558F|KIF20B_ENST00000478929.1_3'UTR Q96Q89 KI20B_HUMAN kinesin family member 20B 1558 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TCAGAGACTTCTAAAATAGTC 0.289000 4 14 0 0 0.000602 0 0 OR10H2 26538 broad.mit.edu 37 19 15839200 15839200 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15839200C>T ENST00000305899.3 + 1 367 c.347C>T c.(346-348)aCc>aTc p.T116I NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TTCCTGCTCACCGTCATGGGC 0.652000 30 125 0 0 0.011902 0 0 TRIOBP 11078 broad.mit.edu 37 22 38131052 38131052 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:38131052G>A ENST00000406386.3 + 9 4964 c.4709G>A c.(4708-4710)gGa>gAa p.G1570E RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1570 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CGGGCACCAGGAGAGGGGGTC 0.692000 OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 147 0 0 0.014410 0 0 HDGFRP3 50810 broad.mit.edu 37 15 83826195 83826195 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:83826195G>A ENST00000299633.4 - 4 1034 c.431C>T c.(430-432)tCa>tTa p.S144L NM_016073.3 NP_057157.1 Q9Y3E1 HDGR3_HUMAN 144 cell proliferation nucleus growth factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 TTTCCGTTTTGAGCCTGCTTT 0.338000 20 64 0 0 0.002780 0 0 CASD1 64921 broad.mit.edu 37 7 94167028 94167028 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:94167028C>T ENST00000297273.4 + 9 1375 c.1088C>T c.(1087-1089)tCa>tTa p.S363L NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 363 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CCTGTGTCTTCATTAGAAATA 0.338000 25 77 0 0 0.005443 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816878 69816878 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:69816878C>T ENST00000251566.4 - 1 631 c.601G>A c.(601-603)Gac>Aac p.D201N UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 201 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTCATTCTGTCTGTTAGTCCT 0.408000 4 15 0 0 0.000602 0 0 NEO1 4756 broad.mit.edu 37 15 73418859 73418859 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:73418859C>T ENST00000339362.5 + 5 1273 c.826C>T c.(826-828)Cct>Tct p.P276S NEO1_ENST00000560262.1_Missense_Mutation_p.P276S|NEO1_ENST00000261908.6_Missense_Mutation_p.P276S|NEO1_ENST00000558964.1_Missense_Mutation_p.P276S Q92859 NEO1_HUMAN neogenin 1 276 Ig-like C2-type 3. 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 TTCAGGACTTCCTACTCCAAC 0.433000 24 61 0 0 0.003954 0 0 HGSNAT 138050 broad.mit.edu 37 8 43025809 43025809 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:43025809C>T ENST00000458501.2 + 7 799 c.799C>T c.(799-801)Cgc>Tgc p.R267C HGSNAT_ENST00000379644.4_Missense_Mutation_p.R239C Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 267 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CCTGCCGCCCCGCCTCCGCAG 0.567000 6 13 0 0 0.001168 0 0 CLIP2 7461 broad.mit.edu 37 7 73790984 73790984 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:73790984C>T ENST00000223398.6 + 10 2580 c.2253C>T c.(2251-2253)ttC>ttT p.F751F CLIP2_ENST00000395060.1_Silent_p.F751F|CLIP2_ENST00000361545.5_Silent_p.F716F NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 751 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 CTATCGAGTTCCTCAAGGAGC 0.637000 31 68 0 0 0.004878 0 0 CSMD1 64478 broad.mit.edu 37 8 2855633 2855633 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:2855633G>A ENST00000520002.1 - 55 8835 c.8280C>T c.(8278-8280)gtC>gtT p.V2760V CSMD1_ENST00000537824.1_Silent_p.V2759V|CSMD1_ENST00000542608.1_Silent_p.V2701V|CSMD1_ENST00000602557.1_Silent_p.V2760V|CSMD1_ENST00000602723.1_Silent_p.V2702V|CSMD1_ENST00000400186.3_Silent_p.V2702V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2760 Sushi 19. 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) TGAAATTCACGACATCATTCA 0.557000 26 66 0 0 0.004656 0 0 RNF32 140545 broad.mit.edu 37 7 156437203 156437203 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:156437203C>T ENST00000392741.2 + 2 114 c.26C>T c.(25-27)tCt>tTt p.S9F RNF32_ENST00000317955.5_Missense_Mutation_p.S9F|RNF32_ENST00000343665.4_Missense_Mutation_p.S9F|RNF32_ENST00000392743.2_Missense_Mutation_p.S9F|RNF32_ENST00000311822.8_Missense_Mutation_p.S9F|RNF32_ENST00000392740.1_Missense_Mutation_p.S9F|RNF32_ENST00000432459.2_Missense_Mutation_p.S9F|RNF32_ENST00000405335.1_Missense_Mutation_p.S9F Q9H0A6 RNF32_HUMAN ring finger protein 32 9 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GGTCACTCATCTAAGAAAGAT 0.333000 27 106 0 0 0.009535 0 0 LST3 0 broad.mit.edu 37 12 21205142 21205142 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21205142C>T ENST00000381541.3 + 10 1509 c.1444C>T c.(1444-1446)Ctg>Ttg p.L482L SLCO1B7_ENST00000421593.2_Silent_p.L435L|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.L482L AATAACTTACCTGTCACCTTG 0.378000 9 38 0 0 0.004482 0 0 MYH6 4624 broad.mit.edu 37 14 23858111 23858111 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23858111C>T ENST00000405093.3 - 29 4202 c.4132G>A c.(4132-4134)Gag>Aag p.E1378K MYH6_ENST00000356287.3_Missense_Mutation_p.E1378K NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1378 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) GCGTCCGTCTCATACTTGGTC 0.622000 46 139 0 0 0.014410 0 0 PLXNB1 5364 broad.mit.edu 37 3 48452431 48452431 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:48452431T>C ENST00000358536.4 - 29 5531 c.5262A>G c.(5260-5262)ctA>ctG p.L1754L PLXNB1_ENST00000358459.4_Silent_p.L1571L|PLXNB1_ENST00000448774.2_Silent_p.L365L|PLXNB1_ENST00000456774.1_Silent_p.L1571L|PLXNB1_ENST00000296440.6_Silent_p.L1754L NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1754 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCACAGCCAATAGTGCATTCA 0.582000 5 75 0 0 0.000602 0 0 FCRL2 79368 broad.mit.edu 37 1 157736650 157736650 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:157736650A>T ENST00000361516.3 - 7 1322 c.1274T>A c.(1273-1275)aTa>aAa p.I425K FCRL2_ENST00000392274.3_Missense_Mutation_p.I425K|FCRL2_ENST00000368181.4_Missense_Mutation_p.I141K|FCRL2_ENST00000469986.1_Missense_Mutation_p.I172K NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 425 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACAACCTGATATCTTGTGGAA 0.388000 42 66 0 0 0.009718 0 0 RADIL 55698 broad.mit.edu 37 7 4876171 4876171 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:4876171C>T ENST00000399583.3 - 3 788 c.601G>A c.(601-603)Ggg>Agg p.G201R RADIL_ENST00000536091.1_Missense_Mutation_p.G201R|RADIL_ENST00000538469.1_5'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 201 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CGGGCATCCCCCAGGGCCGGG 0.682000 9 52 0 0 0.004482 0 0 CD2 914 broad.mit.edu 37 1 117311214 117311214 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:117311214C>T ENST00000369478.3 + 5 973 c.865C>T c.(865-867)Cgt>Tgt p.R289C NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 289 Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) ACCTGGTCATCGTTCCCAGGC 0.587000 76 82 0 0 0.014410 0 0 LUZP2 338645 broad.mit.edu 37 11 24759776 24759776 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:24759776G>A ENST00000336930.6 + 4 327 c.261G>A c.(259-261)atG>atA p.M87I LUZP2_ENST00000533227.1_Start_Codon_SNP_p.M1I|LUZP2_ENST00000531187.1_3'UTR Q86TE4 LUZP2_HUMAN leucine zipper protein 2 87 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 GAGAAGAAATGAAGTCTCTTC 0.353000 9 22 0 0 0.006214 0 0 TRIM37 4591 broad.mit.edu 37 17 57089803 57089803 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:57089803T>C ENST00000376149.3 - 22 3024 c.2215A>G c.(2215-2217)Aat>Gat p.N739D TRIM37_ENST00000393066.3_Missense_Mutation_p.N861D|TRIM37_ENST00000262294.7_Missense_Mutation_p.N861D|TRIM37_ENST00000393065.2_Missense_Mutation_p.N827D O94972 TRI37_HUMAN tripartite motif containing 37 861 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CCTTTAGCATTAGCCCTCAAA 0.383000 Mulibrey Nanism 13 49 0 0 0.003163 0 0 CPA3 1359 broad.mit.edu 37 3 148583291 148583291 + Missense_Mutation SNP G G A rs145828911 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:148583291G>A ENST00000296046.3 + 2 152 c.100G>A c.(100-102)Gaa>Aaa p.E34K RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 34 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding p.E34*(1)|p.E34K(1) 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) GCCCCAGGATGAAAAACAAGC 0.383000 34 53 0 0 0.005524 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2413892 2413892 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:2413892C>T ENST00000332578.3 + 9 1347 c.1347C>T c.(1345-1347)gcC>gcT p.A449A NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 449 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) TGGCTCCTGCCCCTGCCGCCC 0.662000 10 38 0 0 0.013537 0 0 EEA1 8411 broad.mit.edu 37 12 93221822 93221822 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:93221822G>A ENST00000322349.8 - 12 1534 c.1270C>T c.(1270-1272)Ctg>Ttg p.L424L NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 424 Gln/Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TCTGTCTCCAGAAGTTTGCTA 0.378000 28 99 0 0 0.009535 0 0 USH2A 7399 broad.mit.edu 37 1 215916657 215916657 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:215916657G>A ENST00000366943.2 - 59 11796 c.11410C>T c.(11410-11412)Cct>Tct p.P3804S USH2A_ENST00000307340.3_Missense_Mutation_p.P3804S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3804 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P3804S(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACTCCACAGGAATTTCGGGG 0.403000 HNSCC(13;0.011) 51 84 0 0 0.014410 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654514 31654514 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:31654514C>T ENST00000340345.4 - 1 762 c.737G>A c.(736-738)aGt>aAt p.S246N NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 246 6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK]. keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 TCTGCTACCACTGCACAAATA 0.443000 32 78 0 0 0.009535 0 0 ZNF282 8427 broad.mit.edu 37 7 148895756 148895756 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:148895756G>A ENST00000262085.3 + 2 602 c.497G>A c.(496-498)aGg>aAg p.R166K ZNF282_ENST00000479907.1_Missense_Mutation_p.R166K NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 166 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTGCTGCAGAGGCGGCTGGAG 0.637000 69 176 0 0 0.014410 0 0 CHI3L1 1116 broad.mit.edu 37 1 203152894 203152894 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:203152894G>A ENST00000255409.3 - 5 465 c.340C>T c.(340-342)Cag>Tag p.Q114* NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 114 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 CGGCGACTCTGGGTGTTGGAG 0.547000 40 117 0 0 0.014410 0 0 CD1C 911 broad.mit.edu 37 1 158262102 158262102 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158262102C>T ENST00000368170.3 + 3 836 c.557C>T c.(556-558)cCc>cTc p.P186L NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 186 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.P186H(1) NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AGCACTTGCCCCCGATTTCTC 0.453000 103 433 0 0 0.014410 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687318 151687318 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:151687318G>A ENST00000325144.4 - 3 1023 c.883C>T c.(883-885)Ctc>Ttc p.L295F NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 295 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) TTGCTACAGAGAGTCAGGGGG 0.542000 60 83 0 0 0.014410 0 0 F8 2157 broad.mit.edu 37 X 154175986 154175986 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:154175986C>T ENST00000360256.4 - 13 2300 c.2100G>A c.(2098-2100)tcG>tcA p.S700S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 700 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGTTTTCCATCGACATGAAGA 0.413000 61 135 0 0 0.014410 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939174 2939174 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:2939174C>T ENST00000378404.2 + 1 1129 c.924C>T c.(922-924)ttC>ttT p.F308F NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 308 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) CTACCCTGTTCCACGGGCTGG 0.597000 55 142 0 0 0.014410 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712039 222712039 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:222712039C>T ENST00000343410.6 - 5 1586 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 510 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TTTGGGGATTCACAACCACGA 0.433000 90 223 0 0 0.014410 0 0 MYOF 26509 broad.mit.edu 37 10 95103648 95103648 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:95103648C>T ENST00000371501.4 - 38 4413 c.4291G>A c.(4291-4293)Gaa>Aaa p.E1431K MYOF_ENST00000358334.5_Missense_Mutation_p.E1418K|MYOF_ENST00000359263.4_Missense_Mutation_p.E1431K|MYOF_ENST00000371502.4_Missense_Mutation_p.E1431K Q9NZM1 MYOF_HUMAN myoferlin 1431 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 TCTTCCATTTCGATAACGATG 0.428000 45 70 0 0 0.014410 0 0 NLRP12 91662 broad.mit.edu 37 19 54307284 54307284 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:54307284C>T ENST00000324134.6 - 6 2675 c.2507G>A c.(2506-2508)gGa>gAa p.G836E NLRP12_ENST00000351894.4_Missense_Mutation_p.G836E|NLRP12_ENST00000535162.1_Missense_Mutation_p.G836E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G837E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G836E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G837E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G837E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G836E NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 836 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGTGCATTTCCTGTCAGGTC 0.562000 32 34 0 0 0.008361 0 0 OR51A2 401667 broad.mit.edu 37 11 4976476 4976476 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4976476G>A ENST00000380371.1 - 1 467 c.468C>T c.(466-468)ctC>ctT p.L156L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAGAACCAGGAGCATGCTCT 0.428000 12 135 0 0 0.006122 0 0 POLQ 10721 broad.mit.edu 37 3 121260236 121260236 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:121260236G>A ENST00000264233.5 - 3 562 c.434C>T c.(433-435)cCc>cTc p.P145L NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 145 Helicase ATP-binding. 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) AGAAACAAAGGGAAGAATAAA 0.378000 DNA polymerases (catalytic subunits) 188 325 0 0 0.014410 0 0 RASAL2 9462 broad.mit.edu 37 1 178389739 178389739 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:178389739C>T ENST00000448150.3 + 5 1422 c.604C>T c.(604-606)Cgc>Tgc p.R202C RASAL2_ENST00000367649.3_Missense_Mutation_p.R220C|RASAL2_ENST00000462775.1_Missense_Mutation_p.R72C NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 72 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 TCCATCCCTTCGCAGTACAGA 0.413000 17 18 0 0 0.004990 0 0 SLC19A1 6573 broad.mit.edu 37 21 46945797 46945797 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46945797G>A ENST00000311124.4 - 5 1379 c.1227C>T c.(1225-1227)atC>atT p.I409I SLC19A1_ENST00000380010.4_Silent_p.I409I|SLC19A1_ENST00000567670.1_Silent_p.I409I|SLC19A1_ENST00000485649.2_Silent_p.I369I NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 409 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) TGGTCTTGACGATGGTGGCAA 0.577000 80 175 0 0 0.014410 0 0 WNK2 65268 broad.mit.edu 37 9 96009842 96009842 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:96009842C>T ENST00000297954.4 + 7 1560 c.1560C>T c.(1558-1560)ttC>ttT p.F520F WNK2_ENST00000427277.2_Silent_p.F132F|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_Silent_p.F506F|WNK2_ENST00000395477.2_Silent_p.F520F|WNK2_ENST00000349097.3_Silent_p.F132F Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 520 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CTGGATTCTTCCACGAGAGTG 0.592000 8 30 0 0 0.003080 0 0 MTMR8 55613 broad.mit.edu 37 X 63557241 63557241 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:63557241G>A ENST00000374852.3 - 9 1075 c.1008C>T c.(1006-1008)gtC>gtT p.V336V MTMR8_ENST00000453546.1_Silent_p.V336V|MTMR8_ENST00000478487.1_5'UTR NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 336 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 CAGAACAATGGACTAAGACAC 0.458000 6 11 0 0 0.001168 0 0 HECW2 57520 broad.mit.edu 37 2 197171330 197171330 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:197171330C>T ENST00000260983.2 - 13 2878 c.2696G>A c.(2695-2697)cGa>cAa p.R899Q HECW2_ENST00000409111.1_Missense_Mutation_p.R543Q NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 899 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTTCTCCCGTCGGAAATCTAG 0.488000 21 50 0 0 0.010504 0 0 ZNF501 115560 broad.mit.edu 37 3 44776077 44776077 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:44776077G>T ENST00000396048.2 + 3 601 c.164G>T c.(163-165)tGt>tTt p.C55F NM_001258280.1|NM_145044.3 NP_001245209.1|NP_659481.2 Q96CX3 ZN501_HUMAN zinc finger protein 501 55 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TGCAGTGAATGTGGAAGTTGT 0.403000 29 98 3.80469e-20 3.89215e-20 0.009535 1 0 SVEP1 79987 broad.mit.edu 37 9 113192643 113192643 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113192643G>A ENST00000401783.2 - 33 5777 c.5441C>T c.(5440-5442)tCg>tTg p.S1814L SVEP1_ENST00000374469.1_Missense_Mutation_p.S1791L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1814 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTCCTGACACGAAAATGTGAC 0.403000 11 26 0 0 0.008291 0 0 DNAH7 56171 broad.mit.edu 37 2 196753020 196753020 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:196753020C>T ENST00000312428.6 - 33 5468 c.5368G>A c.(5368-5370)Gtc>Atc p.V1790I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1790 AAA 2 (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 GAAACAGGGACCATTCTGTCA 0.353000 15 34 0 0 0.004007 0 0 FAM211B 388886 broad.mit.edu 37 22 24982039 24982039 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:24982039G>A ENST00000318753.8 - 4 786 c.763C>T c.(763-765)Ctg>Ttg p.L255L GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 255 GGCTGGGGCAGGGAAGCCACA 0.667000 90 161 0 0 0.014410 0 0 CLCN1 1180 broad.mit.edu 37 7 143028384 143028384 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:143028384G>A ENST00000343257.2 + 9 1126 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 347 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) TGACCTGAAGGAACTACCAGC 0.517000 51 104 0 0 0.014410 0 0 TSPAN18 90139 broad.mit.edu 37 11 44941473 44941473 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:44941473G>A ENST00000340160.3 + 7 777 c.538G>A c.(538-540)Gaa>Aaa p.E180K TSPAN18_ENST00000520358.2_Missense_Mutation_p.E180K NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 180 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 CTGCCGGAGGGAACCCCAAAG 0.597000 42 209 0 0 0.014410 0 0 ETAA1 54465 broad.mit.edu 37 2 67631707 67631707 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:67631707G>A ENST00000272342.5 + 5 2023 c.1893G>A c.(1891-1893)aaG>aaA p.K631K ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 631 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 AGGACAGTAAGACATCAGAAA 0.363000 52 155 0 0 0.014410 0 0 GMPPA 29926 broad.mit.edu 37 2 220370719 220370719 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:220370719C>T ENST00000358215.3 + 11 1287 c.918C>T c.(916-918)tcC>tcT p.S306S GMPPA_ENST00000313597.5_Silent_p.S306S|GMPPA_ENST00000341142.3_Silent_p.S306S|GMPPA_ENST00000373917.3_Silent_p.S359S|GMPPA_ENST00000373908.1_Silent_p.S306S|AC053503.11_ENST00000429882.1_RNA NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 306 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CCAACGTCTCCATCGGGAAGG 0.592000 7 15 0 0 0.003080 0 0 ASTN1 460 broad.mit.edu 37 1 176863760 176863760 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:176863760G>A ENST00000367654.2 - 17 2915 c.2902C>T c.(2902-2904)Ctg>Ttg p.L968L ASTN1_ENST00000424564.2_Silent_p.L960L|ASTN1_ENST00000367657.3_Silent_p.L960L|ASTN1_ENST00000361833.2_Silent_p.L960L O14525 ASTN1_HUMAN astrotactin 1 968 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 ACCTCCAGCAGAACCGGCTCA 0.612000 40 115 0 0 0.009718 0 0 SAG 6295 broad.mit.edu 37 2 234217864 234217864 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:234217864C>T ENST00000409110.1 + 2 259 c.29C>T c.(28-30)tCc>tTc p.S10F NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 10 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) ACCAGCAAGTCCGAACCGAAC 0.463000 15 33 0 0 0.006122 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086797 46086797 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46086797G>A ENST00000360770.3 - 1 47 c.7C>T c.(7-9)Cat>Tat p.H3Y TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 3 keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 CAGCTGGTATGACACATGGTG 0.667000 13 30 0 0 0.002450 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993398 140993398 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:140993398C>T ENST00000285879.4 + 4 494 c.208C>T c.(208-210)Cct>Tct p.P70S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 70 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGAGACCTCCTGAGGG 0.582000 HNSCC(15;0.026) 67 113 0 0 0.014410 0 0 KRT37 8688 broad.mit.edu 37 17 39580464 39580464 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39580464C>T ENST00000225550.3 - 1 311 c.312G>A c.(310-312)gaG>gaA p.E104E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 104 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) TGGTCTCCTTCTCATGGCCAT 0.572000 36 142 0 0 0.005524 0 0 LRRC36 55282 broad.mit.edu 37 16 67412536 67412536 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67412536C>T ENST00000290940.7 + 8 1503 c.901C>T c.(901-903)Cat>Tat p.H301Y LRRC36_ENST00000329956.6_Silent_p.L617L|LRRC36_ENST00000435835.3_Silent_p.L392L|LRRC36_ENST00000541146.1_Silent_p.L89L|LRRC36_ENST00000563189.1_Silent_p.L496L Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 0 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) AGGAAAACCTCATTTTGTCAG 0.388000 17 68 0 0 0.004007 0 0 HYDIN 54768 broad.mit.edu 37 16 70926384 70926384 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:70926384C>T ENST00000393567.2 - 56 9447 c.9297G>A c.(9295-9297)atG>atA p.M3099I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3099 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) GGACTGAGATCATGGAATTTA 0.423000 11 62 0 0 0.001855 0 0 PKD1L1 168507 broad.mit.edu 37 7 47906088 47906088 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:47906088A>C ENST00000289672.2 - 25 4071 c.4021T>G c.(4021-4023)Tcc>Gcc p.S1341A NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1341 REJ. 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 TGGTTGCAGGAGGCAGTTTTG 0.453000 56 76 0 0 0.014410 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069260 6069260 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:6069260G>A ENST00000381095.3 - 2 875 c.248C>T c.(247-249)aCt>aTt p.T83I NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T83I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T83I|NLGN4X_ENST00000381093.2_Missense_Mutation_p.T83I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T83I NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 83 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 CCTCTCTCCAGTGGGGGGTGA 0.567000 34 50 0 0 0.004289 0 0 PAPPA 5069 broad.mit.edu 37 9 118997653 118997653 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:118997653G>A ENST00000328252.3 + 7 2838 c.2469G>A c.(2467-2469)ggG>ggA p.G823G PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 823 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 CTGTCAGTGGGAAGAACATCT 0.522000 14 37 0 0 0.002450 0 0 MID1 4281 broad.mit.edu 37 X 10422960 10422960 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:10422960A>G ENST00000317552.4 - 9 2005 c.1605T>C c.(1603-1605)ttT>ttC p.F535F MID1_ENST00000453318.2_Silent_p.F535F|MID1_ENST00000380787.1_Silent_p.F535F|MID1_ENST00000380779.1_Silent_p.F535F|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380780.1_Silent_p.F535F|MID1_ENST00000380782.2_Silent_p.F535F|MID1_ENST00000380785.1_Silent_p.F535F NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 535 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 CACTATCAATAAACACATTTC 0.433000 4 70 0 0 0.000602 0 0 PLA2G2E 30814 broad.mit.edu 37 1 20248809 20248809 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:20248809C>T ENST00000375116.3 - 3 325 c.268G>A c.(268-270)Gaa>Aaa p.E90K NM_014589.1 NP_055404.1 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE 90 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATGCCACGTTCGCTGACAGAG 0.577000 30 65 0 0 0.013726 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270573 1270573 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:1270573C>T ENST00000348261.5 + 35 6889 c.6641C>T c.(6640-6642)aCc>aTc p.T2214I CACNA1H_ENST00000565831.1_Missense_Mutation_p.T2208I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.T2208I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2214 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGCGGCAGCACCACACTGAGG 0.716000 8 43 0 0 0.003080 0 0 AP5M1 55745 broad.mit.edu 37 14 57749720 57749720 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:57749720T>C ENST00000261558.3 + 5 1563 c.1157T>C c.(1156-1158)tTa>tCa p.L386S AP5M1_ENST00000431972.2_Missense_Mutation_p.L400S|AP5M1_ENST00000556723.1_3'UTR NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 386 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex GAGAAAAGCTTATTGATCTGG 0.264000 44 124 0 0 0.014410 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588503 20588503 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:20588503G>A ENST00000428453.1 - 0 4247 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTTCCCTAGGGAAAACCTGAG 0.488000 4 22 0 0 0.009096 0 0 LRRK2 120892 broad.mit.edu 37 12 40745496 40745496 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:40745496C>T ENST00000298910.7 + 44 6595 c.6537C>T c.(6535-6537)ctC>ctT p.L2179L NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2179 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) GAGGACAGCTCTCATTTCTTG 0.388000 19 62 0 0 0.014323 0 0 TMEM9 252839 broad.mit.edu 37 1 201104908 201104908 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:201104908G>A ENST00000367330.1 - 5 951 c.435C>T c.(433-435)ctC>ctT p.L145L TMEM9_ENST00000367333.1_Silent_p.L148L|TMEM9_ENST00000367332.1_Silent_p.L148L|TMEM9_ENST00000367329.1_Silent_p.L145L|TMEM9_ENST00000367334.5_Silent_p.L145L|TMEM9_ENST00000472411.1_5'UTR Q9P0T7 TMEM9_HUMAN transmembrane protein 9 145 transport integral to membrane|late endosome membrane|lysosomal membrane liver(1)|lung(1)|stomach(1) 3 Breast(1374;0.000301) GGGGTCCCCCGAGGGATGCAG 0.582000 22 47 0 0 0.002780 0 0 MUC3A 4584 broad.mit.edu 37 7 100610057 100610057 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100610057G>A ENST00000319509.7 + 10 2542 c.2542G>A c.(2542-2544)Gat>Aat p.D848N RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 tcTAGACAAGGATACAAATTT 0.557000 37 185 0 0 0.007835 0 0 SELE 6401 broad.mit.edu 37 1 169701077 169701077 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:169701077C>A ENST00000333360.7 - 4 567 c.428G>T c.(427-429)tGt>tTt p.C143F SELE_ENST00000367782.4_Missense_Mutation_p.C143F|SELE_ENST00000367776.1_Missense_Mutation_p.C143F|SELE_ENST00000367780.4_Missense_Mutation_p.C143F|SELE_ENST00000367781.4_Missense_Mutation_p.C143F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.C143F|SELE_ENST00000367777.1_Missense_Mutation_p.C143F|SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367779.4_Missense_Mutation_p.C143F|SELE_ENST00000367774.1_Missense_Mutation_p.C143F NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 143 EGF-like. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TGTATTGGTACAGGCAGCTAC 0.443000 9 43 2.17888e-05 2.21245e-05 0.006214 1 0 ANO1 55107 broad.mit.edu 37 11 69934154 69934154 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:69934154C>T ENST00000355303.5 + 2 710 c.405C>T c.(403-405)ctC>ctT p.L135L ANO1_ENST00000316296.5_Silent_p.L107L|ANO1_ENST00000398543.2_Silent_p.L19L|ANO1_ENST00000530676.1_Silent_p.L19L|ANO1_ENST00000538023.1_Silent_p.L135L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 135 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 AGGGCAACCTCCTGGAGGCGG 0.692000 4 6 0 0 0.000602 0 0 SMC1B 27127 broad.mit.edu 37 22 45802443 45802443 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:45802443C>T ENST00000357450.4 - 4 512 c.513G>A c.(511-513)aaG>aaA p.K171K SMC1B_ENST00000404354.3_Silent_p.K171K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 171 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ACTTTCTTTTCTTTTCTTCAT 0.368000 78 105 0 0 0.014410 0 0 CPLX3 594855 broad.mit.edu 37 15 75122657 75122657 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:75122657G>A ENST00000395018.4 + 3 596 c.439G>A c.(439-441)Gat>Aat p.D147N RP11-414J4.2_ENST00000564823.1_RNA NM_001030005.2 NP_001025176.1 Q8WVH0 CPLX3_HUMAN complexin 3 147 cell junction|synapse syntaxin binding large_intestine(2)|lung(2) 4 CACACTGGGGGATCTCAAGCA 0.602000 21 55 0 0 0.010504 0 0 PRUNE2 158471 broad.mit.edu 37 9 79252384 79252384 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:79252384C>T ENST00000428286.1 - 14 9039 c.7839G>A c.(7837-7839)agG>agA p.R2613R PRUNE2_ENST00000443509.2_Silent_p.R220R|PRUNE2_ENST00000376718.3_Silent_p.R2971R|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Silent_p.R236R Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2971 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCCCTGGCATCCTCCTTCTTG 0.398000 57 134 0 0 0.014410 0 0 B4GALT4 8702 broad.mit.edu 37 3 118935165 118935165 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:118935165G>A ENST00000467604.1 - 7 1215 c.824C>T c.(823-825)tCc>tTc p.S275F B4GALT4_ENST00000483209.1_Missense_Mutation_p.S275F|B4GALT4_ENST00000359213.3_Missense_Mutation_p.S275F|B4GALT4_ENST00000393765.2_Missense_Mutation_p.S275F|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 275 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) CAGGGGCCGGGAAATTTTCAT 0.413000 19 110 0 0 0.008871 0 0 CLIP2 7461 broad.mit.edu 37 7 73768317 73768317 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:73768317G>A ENST00000223398.6 + 4 1113 c.786G>A c.(784-786)ggG>ggA p.G262G CLIP2_ENST00000395060.1_Silent_p.G262G|CLIP2_ENST00000361545.5_Silent_p.G262G NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 262 CAP-Gly 2. microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 AGAATGATGGGGCGGTGGCGG 0.652000 101 224 0 0 0.014410 0 0 PLXNB1 5364 broad.mit.edu 37 3 48460685 48460685 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:48460685G>A ENST00000358536.4 - 12 3069 c.2800C>T c.(2800-2802)Cgg>Tgg p.R934W PLXNB1_ENST00000358459.4_Missense_Mutation_p.R751W|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R751W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R934W NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 934 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTAGCAGCCGGATTTCCCGC 0.612000 30 30 0 0 0.007291 0 0 MBD5 55777 broad.mit.edu 37 2 149226818 149226818 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:149226818C>T ENST00000407073.1 + 9 2303 c.1306C>T c.(1306-1308)Cct>Tct p.P436S MBD5_ENST00000404807.1_Missense_Mutation_p.P436S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 436 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CTCCCTGTCCCCTTCTCCAGT 0.488000 19 43 0 0 0.007413 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33877671 33877671 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:33877671C>T ENST00000307296.3 + 8 1347 c.970C>T c.(970-972)Cca>Tca p.P324S PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P329S Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 324 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TGATCGAGTTCCAGACCTTAA 0.383000 43 228 0 0 0.010771 0 0 SNRPC 6631 broad.mit.edu 37 6 34738142 34738142 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:34738142C>T ENST00000374017.3 + 4 675 c.388C>T c.(388-390)Cct>Tct p.P130S SNRPC_ENST00000374018.1_Missense_Mutation_p.P68S|SNRPC_ENST00000244520.5_Missense_Mutation_p.P109S|SNRPC_ENST00000474635.1_3'UTR P09234 RU1C_HUMAN small nuclear ribonucleoprotein polypeptide C 109 HMP -> ICQ (in Ref. 2). spliceosomal snRNP assembly Cajal body|U1 snRNP protein homodimerization activity|single-stranded RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1) 6 GATGGGCCCTCCTCCTCCTGG 0.502000 36 76 0 0 0.006999 0 0 COL18A1 80781 broad.mit.edu 37 21 46876046 46876046 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46876046C>T ENST00000359759.4 + 1 623 c.602C>T c.(601-603)cCc>cTc p.P201L COL18A1_ENST00000355480.5_Missense_Mutation_p.P201L|COL18A1_ENST00000400337.2_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 201 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTGGGCAGGCCCTGGGCACCA 0.692000 23 100 0 0 0.004656 0 0 CSMD2 114784 broad.mit.edu 37 1 34076727 34076727 + Missense_Mutation SNP G G A rs140911773 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:34076727G>A ENST00000373381.4 - 41 6433 c.6257C>T c.(6256-6258)tCc>tTc p.S2086F CSMD2_ENST00000373377.1_Missense_Mutation_p.S185F|CSMD2_ENST00000373380.1_Missense_Mutation_p.S959F|CSMD2_ENST00000373388.2_Missense_Mutation_p.S185F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2046 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) GGAGAGGAGGGAGCTTGGAAG 0.557000 21 54 0 0 0.012319 0 0 PSD4 23550 broad.mit.edu 37 2 113958813 113958813 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:113958813G>A ENST00000245796.6 + 17 3187 c.2992G>A c.(2992-2994)Gag>Aag p.E998K PSD4_ENST00000441564.2_Missense_Mutation_p.E969K NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 998 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTGTGGGAGGAGCAGCTGGG 0.652000 111 238 0 0 0.014410 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561170 11561170 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:11561170G>A ENST00000294484.6 + 2 259 c.121G>A c.(121-123)Ggg>Agg p.G41R PTCHD2_ENST00000389575.3_Missense_Mutation_p.G41R NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 41 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACCTGGGGCAGGGGGACAGTG 0.642000 34 113 0 0 0.003271 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303615 7303615 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7303615C>T ENST00000537408.1 + 15 3057 c.2519C>T c.(2518-2520)cCt>cTt p.P840L CLSTN3_ENST00000266546.6_Missense_Mutation_p.P828L Q9BQT9 CSTN3_HUMAN calsyntenin 3 828 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 CAGCCCCCGCCTGAGATGGCT 0.642000 16 35 0 0 0.003163 0 0 GLRB 2743 broad.mit.edu 37 4 158041795 158041795 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:158041795G>A ENST00000264428.4 + 3 480 c.210G>A c.(208-210)agG>agA p.R70R GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.R70R|GLRB_ENST00000509282.1_Silent_p.R70R NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 70 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) ATGATCCCAGGATAAGACCAA 0.353000 4 25 0 0 0.009096 0 0 THPO 7066 broad.mit.edu 37 3 184094044 184094044 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:184094044C>T ENST00000204615.7 - 2 218 c.4G>A c.(4-6)Gag>Aag p.E2K EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.E2K|THPO_ENST00000421442.2_Missense_Mutation_p.E2K NM_000460.2|NM_001177597.1|NM_001177598.1 NP_000451.1|NP_001171068.1|NP_001171069.1 P40225 TPO_HUMAN thrombopoietin 2 cell proliferation|platelet activation extracellular space cytokine activity|growth factor activity|hormone activity NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCAGTCAGCTCCATTCTGGCC 0.612000 111 439 0 0 0.014410 0 0 FCRL2 79368 broad.mit.edu 37 1 157737065 157737065 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:157737065C>T ENST00000361516.3 - 6 1166 c.1118G>A c.(1117-1119)gGc>gAc p.G373D FCRL2_ENST00000392274.3_Missense_Mutation_p.G373D|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.G120D NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 373 Ig-like C2-type 4. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GGCCCCCAGGCCGTTGTTGGC 0.577000 49 131 0 0 0.014410 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77334280 77334280 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:77334280G>A ENST00000282849.5 - 17 2972 c.2554C>T c.(2554-2556)Cca>Tca p.P852S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 852 Spacer. 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 GCTATCCCTGGATTTTTGCCT 0.433000 16 65 0 0 0.003163 0 0 FDXR 2232 broad.mit.edu 37 17 72862348 72862348 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:72862348G>A ENST00000455107.2 - 6 696 c.280C>T c.(280-282)Cat>Tat p.H94Y FDXR_ENST00000442102.2_Missense_Mutation_p.H181Y|FDXR_ENST00000420580.2_Missense_Mutation_p.H98Y|FDXR_ENST00000413947.2_Missense_Mutation_p.H169Y|FDXR_ENST00000293195.5_Missense_Mutation_p.H138Y|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.H138Y|FDXR_ENST00000583917.1_Missense_Mutation_p.H139Y|FDXR_ENST00000582944.1_Missense_Mutation_p.H130Y|FDXR_ENST00000544854.1_Missense_Mutation_p.H86Y P22570 ADRO_HUMAN ferredoxin reductase 138 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding p.H138Y(2) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) AGGGCCCGATGGTCCTCTGCC 0.657000 30 85 0 0 0.007291 0 0 CCDC102A 92922 broad.mit.edu 37 16 57555046 57555046 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:57555046C>T ENST00000258214.2 - 4 1101 c.855G>A c.(853-855)ggG>ggA p.G285G NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 285 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 GGCTGAGCTCCCCCTCTAGCT 0.567000 34 133 0 0 0.004878 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14752679 14752679 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:14752679G>A ENST00000358984.4 + 2 516 c.336_splice c.e2+1 p.K112_splice ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Splice_Site_p.K112_splice NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 112 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CTCTGATGAAGGTAAATAGTA 0.403000 5 15 0 0 0.000602 0 0 C1orf210 149466 broad.mit.edu 37 1 43748497 43748497 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:43748497C>T ENST00000523677.1 - 3 534 c.301G>A c.(301-303)Gag>Aag p.E101K C1orf210_ENST00000423420.1_Missense_Mutation_p.E101K NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 101 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTCCCCAGCTCGCCAGTCCCA 0.582000 47 133 0 0 0.014410 0 0 WDR52 55779 broad.mit.edu 37 3 113115566 113115566 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:113115566G>A ENST00000393845.2 - 14 1644 c.1578C>T c.(1576-1578)ttC>ttT p.F526F WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Silent_p.F526F NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 526 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 GTGCTCCAGTGAAGTTTACCT 0.333000 26 21 0 0 0.003954 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43659373 43659373 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:43659373G>A ENST00000374466.3 + 5 1375 c.1040G>A c.(1039-1041)cGa>cAa p.R347Q NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 347 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AATCGTGGACGAGGACTAAAT 0.413000 29 34 0 0 0.007291 0 0 RHAG 6005 broad.mit.edu 37 6 49604371 49604371 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:49604371G>A ENST00000371175.4 - 1 181 c.155C>T c.(154-156)cCt>cTt p.P52L RHAG_ENST00000229810.7_Missense_Mutation_p.P52L NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 52 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) CTACTCACGAGGATATAACTC 0.373000 57 147 0 0 0.014410 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455308 70455308 + Missense_Mutation SNP C C T rs149562826 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:70455308C>T ENST00000503640.1 - 6 1421 c.1366G>A c.(1366-1368)Gat>Aat p.D456N UGT2A1_ENST00000286604.4_Missense_Mutation_p.D456N|UGT2A1_ENST00000514019.1_Missense_Mutation_p.D622N|UGT2A2_ENST00000457664.2_Missense_Mutation_p.D465N|UGT2A1_ENST00000512704.1_Missense_Mutation_p.D412N NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 456 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 ACTGCTCGATCCAGGGGCTTT 0.438000 42 87 0 0 0.014410 0 0 BTNL3 10917 broad.mit.edu 37 5 180420152 180420152 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:180420152G>A ENST00000342868.6 + 2 573 c.389G>A c.(388-390)cGg>cAg p.R130Q NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 130 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TGGGAGCTGCGGGTGGCAGGT 0.443000 4 9 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179612008 179612008 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179612008G>A ENST00000360870.5 - 46 15341 c.15119C>T c.(15118-15120)tCa>tTa p.S5040L TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1144 Ig-like 31. 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) GGAAGGTGTTGAATATCTTTC 0.438000 11 22 0 0 0.013537 0 0 MRPL38 64978 broad.mit.edu 37 17 73898128 73898128 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:73898128C>T ENST00000309352.3 - 3 892 c.355G>A c.(355-357)Gag>Aag p.E119K MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 119 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCGCTCCTCTTCCACATTG 0.627000 26 42 0 0 0.008361 0 0 KRT5 3852 broad.mit.edu 37 12 52908780 52908780 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52908780G>A ENST00000252242.4 - 9 2109 c.1719C>T c.(1717-1719)tcC>tcT p.S573S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 573 Ser-rich.|Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) ATTTGACGCTGGAGCTGCTAC 0.622000 37 86 0 0 0.005524 0 0 GREM2 64388 broad.mit.edu 37 1 240656759 240656759 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:240656759G>A ENST00000318160.4 - 2 283 c.17C>T c.(16-18)tCc>tTc p.S6F NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 6 BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CAAGGACAGGGAAAGCTTCCA 0.552000 15 16 0 0 0.002450 0 0 ABCC9 10060 broad.mit.edu 37 12 21995392 21995392 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21995392G>A ENST00000261200.4 - 27 3328 c.3329C>T c.(3328-3330)aCc>aTc p.T1110I ABCC9_ENST00000345162.2_Missense_Mutation_p.T1074I|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1110I|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1110 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGATTCCAAGGTTGGAGGGAT 0.418000 19 82 0 0 0.008871 0 0 CRISP2 7180 broad.mit.edu 37 6 49666122 49666122 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:49666122C>T ENST00000339139.4 - 7 606 c.370G>A c.(370-372)Ggt>Agt p.G124S NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 124 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GGTCCTACACCATAGACAAAA 0.408000 23 56 0 0 0.012319 0 0 DGKD 8527 broad.mit.edu 37 2 234360641 234360641 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:234360641C>T ENST00000264057.2 + 18 2211 c.2199C>T c.(2197-2199)ccC>ccT p.P733P DGKD_ENST00000409813.3_Silent_p.P689P NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 733 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GTTCCTTACCCGGTGGCTCAG 0.498000 42 113 0 0 0.014410 0 0 COL24A1 255631 broad.mit.edu 37 1 86557961 86557961 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:86557961G>A ENST00000370571.2 - 6 2008 c.1642C>T c.(1642-1644)Cct>Tct p.P548S COL24A1_ENST00000436319.1_Missense_Mutation_p.P548S NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 548 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTTTCTCCAGGAACAGGTTGA 0.303000 19 97 0 0 0.012319 0 0 NXPH2 11249 broad.mit.edu 37 2 139428988 139428988 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:139428988C>T ENST00000272641.3 - 2 405 c.299G>A c.(298-300)aGg>aAg p.R100K NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 100 III. neuropeptide signaling pathway extracellular region endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) TACTATTGGCCTCCGTTTAGT 0.448000 21 49 0 0 0.008871 0 0 CYP3A4 1576 broad.mit.edu 37 7 99377689 99377689 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:99377689C>T ENST00000336411.2 - 2 274 c.91G>A c.(91-93)Gga>Aga p.G31R CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 31 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTAAAAAGTCCATGTGAATGG 0.398000 14 47 0 0 0.004990 0 0 EPYC 1833 broad.mit.edu 37 12 91363872 91363872 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:91363872C>T ENST00000261172.3 - 6 839 c.747G>A c.(745-747)ttG>ttA p.L249L NM_004950.4 NP_004941.2 Q99645 EPYC_HUMAN epiphycan 249 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 GGATGTGGTCCAAGTTGTTAT 0.443000 40 103 0 0 0.009718 0 0 FCRLA 84824 broad.mit.edu 37 1 161681153 161681153 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:161681153A>G ENST00000367959.2 + 4 699 c.457A>G c.(457-459)Atc>Gtc p.I153V FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.I136V|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.I147V|FCRLA_ENST00000367953.3_Missense_Mutation_p.I136V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.I130V|FCRLA_ENST00000367950.1_Intron NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 130 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGAATTCTCCATCACCGTGGT 0.592000 23 52 0 0 0.004656 0 0 WNK4 65266 broad.mit.edu 37 17 40947899 40947899 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:40947899A>G ENST00000246914.5 + 16 3300 c.3279A>G c.(3277-3279)gaA>gaG p.E1093E NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1093 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) ATGGGAAGGAACCCCAAGTTG 0.617000 28 71 0 0 0.008361 0 0 GPR26 2849 broad.mit.edu 37 10 125426514 125426514 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:125426514G>A ENST00000284674.1 + 1 644 c.591G>A c.(589-591)aaG>aaA p.K197K NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 197 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) AGGTGCTCAAGGTGGCCCGCT 0.632000 12 8 0 0 0.010729 0 0 CAT 847 broad.mit.edu 37 11 34475378 34475378 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:34475378C>T ENST00000241052.4 + 6 705 c.616C>T c.(616-618)Cca>Tca p.P206S NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 206 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) TCGGGGGATTCCAGATGGACA 0.343000 16 88 0 0 0.006122 0 0 ATRNL1 26033 broad.mit.edu 37 10 117061531 117061531 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:117061531G>A ENST00000355044.3 + 17 2922 c.2796G>A c.(2794-2796)gaG>gaA p.E932E ATRNL1_ENST00000423111.2_Silent_p.E29E|ATRNL1_ENST00000303745.7_5'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 932 PSI 4. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AATGTCTAGAGTGGCAAACTG 0.393000 19 32 0 0 0.010504 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76592521 76592521 + Nonsense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:76592521A>T ENST00000307431.8 + 25 4250 c.3865A>T c.(3865-3867)Aaa>Taa p.K1289* CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.K1293*|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.K1217*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.K1241*|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1290 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGCTGTTCTGAAAAGTGAGCT 0.348000 15 23 0 0 0.003163 0 0 DDX60 55601 broad.mit.edu 37 4 169188759 169188759 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:169188759G>A ENST00000393743.3 - 22 3304 c.3013C>T c.(3013-3015)Cca>Tca p.P1005S NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1005 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) GCAGCACATGGGTGAAAATGA 0.294000 22 64 0 0 0.003330 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475497 140475497 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140475497C>T ENST00000194155.4 + 1 1271 c.1123C>T c.(1123-1125)Cct>Tct p.P375S NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 375 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTTTCAGATCCTGACTCCGG 0.433000 27 39 0 0 0.003954 0 0 GRM7 2917 broad.mit.edu 37 3 7188330 7188330 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:7188330C>T ENST00000486284.1 + 2 985 c.711C>T c.(709-711)tcC>tcT p.S237S GRM7_ENST00000357716.4_Silent_p.S237S|GRM7_ENST00000402647.2_Silent_p.S237S|GRM7_ENST00000403881.1_Silent_p.S237S|GRM7_ENST00000389336.4_Silent_p.S237S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 237 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) GTGTGGAGTCCTTCACGCAGA 0.483000 16 25 0 0 0.014323 0 0 STK24 8428 broad.mit.edu 37 13 99118722 99118722 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:99118722T>A ENST00000397517.2 - 6 767 c.691A>T c.(691-693)Att>Ttt p.I231F STK24_ENST00000376547.3_Missense_Mutation_p.I243F|STK24_ENST00000539966.1_Missense_Mutation_p.I212F NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 243 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TTCTTTGGAATGAGGAATAAA 0.483000 104 55 0 0 0.014410 0 0 OLFM1 10439 broad.mit.edu 37 9 138011906 138011906 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:138011906C>T ENST00000252854.4 + 6 1473 c.1286C>T c.(1285-1287)tCc>tTc p.S429F OLFM1_ENST00000371796.3_Missense_Mutation_p.S420F|OLFM1_ENST00000371793.3_Missense_Mutation_p.S447F NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 447 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) AACAAATACTCCCACATCTCC 0.537000 50 143 0 0 0.014410 0 0 TBR1 10716 broad.mit.edu 37 2 162274198 162274198 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:162274198C>T ENST00000389554.3 + 2 1021 c.704C>T c.(703-705)cCt>cTt p.P235L NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 235 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CGCATGTTTCCTTTTTTAAGT 0.398000 96 263 0 0 0.014410 0 0 ABCB5 340273 broad.mit.edu 37 7 20744422 20744422 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:20744422A>T ENST00000404938.2 + 20 3065 c.2413A>T c.(2413-2415)Att>Ttt p.I805F ABCB5_ENST00000258738.6_Missense_Mutation_p.I360F NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 360 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 TATAGCACAAATTCAAGGAGT 0.363000 10 69 0 0 0.006214 0 0 ABCA10 10349 broad.mit.edu 37 17 67212388 67212388 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:67212388G>A ENST00000269081.4 - 8 1551 c.642C>T c.(640-642)ttC>ttT p.F214F ABCA10_ENST00000432313.2_Silent_p.F214F|ABCA10_ENST00000416101.2_Silent_p.F214F NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 214 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TATAGAGTGTGAATATCACCA 0.343000 140 362 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179447840 179447840 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179447840C>T ENST00000589042.1 - 313 65914 c.65690G>A c.(65689-65691)tGg>tAg p.W21897* TTN_ENST00000591111.1_Nonsense_Mutation_p.W20256*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W12832*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W12957*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W19329*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W13024*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20256 Fibronectin type-III 59. 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) ATCTTTTTTCCAAGAAACTGT 0.463000 3 16 0 0 0.000602 0 0 SELP 6403 broad.mit.edu 37 1 169581587 169581587 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:169581587G>A ENST00000263686.6 - 6 866 c.829C>T c.(829-831)Cat>Tat p.H277Y SELP_ENST00000367786.2_Missense_Mutation_p.H277Y|SELP_ENST00000458599.2_Missense_Mutation_p.H277Y|SELP_ENST00000367792.2_Missense_Mutation_p.H277Y|SELP_ENST00000367791.2_Missense_Mutation_p.H277Y|SELP_ENST00000367794.2_Missense_Mutation_p.H277Y|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 277 Sushi 2. 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 p.H277N(1) 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) TTTGCAGAATGAAGGCAGGTC 0.488000 38 53 0 0 0.004878 0 0 BIN2 51411 broad.mit.edu 37 12 51685437 51685437 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:51685437C>T ENST00000267012.4 - 10 1514 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K BIN2_ENST00000544402.1_Missense_Mutation_p.E459K|BIN2_ENST00000452142.2_Missense_Mutation_p.E453K|BIN2_ENST00000604560.1_Missense_Mutation_p.E458K NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 485 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TGGATGTTTTCATTTTCTTTG 0.443000 25 57 0 0 0.003954 0 0 SPANXN5 494197 broad.mit.edu 37 X 52826358 52826358 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:52826358C>T ENST00000375511.3 - 1 783 c.31G>A c.(31-33)Gag>Aag p.E11K NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 11 large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) TTCCTCTTCTCCCCATTGGTG 0.453000 35 103 0 0 0.006999 0 0 COL28A1 340267 broad.mit.edu 37 7 7495682 7495682 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:7495682C>T ENST00000399429.3 - 16 1504 c.1364G>A c.(1363-1365)gGg>gAg p.G455E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 455 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) TACCTGTTCCCCTTGACTCCC 0.458000 8 58 0 0 0.004482 0 0 QKI 9444 broad.mit.edu 37 6 163836228 163836228 + Translation_Start_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:163836228G>A ENST00000361752.3 + 1 554 c.3G>A c.(1-3)atG>atA p.M1I QKI_ENST00000453779.2_Start_Codon_SNP_p.M1I|QKI_ENST00000424802.3_Start_Codon_SNP_p.M1I|QKI_ENST00000392127.2_Start_Codon_SNP_p.M1I|QKI_ENST00000275262.7_Start_Codon_SNP_p.M1I|QKI_ENST00000361195.2_Start_Codon_SNP_p.M1I NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 1 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) CCTGGAATATGGTCGGGGAAA 0.682000 16 23 0 0 0.003163 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482603 140482603 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140482603G>A ENST00000231130.2 + 1 2370 c.2370G>A c.(2368-2370)agG>agA p.R790R NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGTTTCAGGAAGAGCTTTG 0.453000 42 107 0 0 0.014410 0 0 MICAL1 64780 broad.mit.edu 37 6 109766440 109766440 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:109766440G>A ENST00000368952.4 - 22 3188 c.2898C>T c.(2896-2898)gcC>gcT p.A966A MICAL1_ENST00000358807.3_Silent_p.A947A|MICAL1_ENST00000358577.3_Silent_p.A861A Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 947 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) TCACGCCCTCGGCCTCTAGCT 0.567000 28 50 0 0 0.005443 0 0 OR5T2 219464 broad.mit.edu 37 11 56000028 56000028 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56000028C>T ENST00000313264.4 - 1 709 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CGCCTAATTTCATTGGCTCCA 0.418000 44 75 0 0 0.009718 0 0 FBXW12 285231 broad.mit.edu 37 3 48419850 48419850 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:48419850C>T ENST00000296438.5 + 6 635 c.449C>T c.(448-450)tCa>tTa p.S150L FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.S131L NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 150 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCCATTTCTCAAATCTGGTA 0.483000 35 54 0 0 0.005524 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332594 100332594 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:100332594C>T ENST00000341853.1 - 0 1597 NR_003260.1 GAAAGTTCATCACCCTAGAAC 0.617000 58 139 0 0 0.014410 0 0 ARID5A 10865 broad.mit.edu 37 2 97217346 97217346 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:97217346G>A ENST00000454558.2 + 7 2054 c.877G>A c.(877-879)Gac>Aac p.D293N ARID5A_ENST00000357485.3_Missense_Mutation_p.D361N Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 361 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 GCACCCCAGGGACTTCTTCTC 0.632000 16 34 0 0 0.004007 0 0 STAC 6769 broad.mit.edu 37 3 36547319 36547319 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:36547319G>A ENST00000273183.3 + 8 1213 c.913G>A c.(913-915)Gaa>Aaa p.E305K STAC_ENST00000457375.2_Missense_Mutation_p.E244K NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 305 SH3. 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 TGAAGATTTGGAAATGAGGTA 0.348000 25 22 0 0 0.004656 0 0 FBXW9 84261 broad.mit.edu 37 19 12802235 12802235 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:12802235G>C ENST00000380339.3 - 4 748 c.712C>G c.(712-714)Cgc>Ggc p.R238G FBXW9_ENST00000587955.1_Missense_Mutation_p.R228G|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Missense_Mutation_p.R238G Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 238 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GAGCACACGCGGTGGTCCTGC 0.652000 9 6 0 0 0.006214 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468784 35468784 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:35468784C>T ENST00000381151.3 + 2 1799 c.1287C>T c.(1285-1287)atC>atT p.I429I MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 429 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TGCCAATCATCGTGGAGATGC 0.502000 42 122 0 0 0.011902 0 0 CPM 1368 broad.mit.edu 37 12 69264143 69264143 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:69264143G>A ENST00000551568.1 - 5 528 c.468C>T c.(466-468)ttC>ttT p.F156F CPM_ENST00000546373.1_Silent_p.F156F|CPM_ENST00000338356.3_Silent_p.F156F NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 156 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) AAGCATCGGGGAAATTTCGAT 0.398000 18 63 0 0 0.012319 0 0 PRKCI 5584 broad.mit.edu 37 3 169999701 169999701 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:169999701G>A ENST00000295797.4 + 11 1317 c.1012G>A c.(1012-1014)Gga>Aga p.G338R NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 338 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGTAAATGGAGGAGACCTAAT 0.358000 121 172 0 0 0.014410 0 0 BSND 7809 broad.mit.edu 37 1 55474209 55474209 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:55474209G>A ENST00000371265.4 + 4 1125 c.871G>A c.(871-873)Gaa>Aaa p.E291K NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 291 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 ACCTGAGAAGGAAGAGGAAGA 0.587000 31 88 0 0 0.012213 0 0 SNHG14 104472715 broad.mit.edu 37 15 25325343 25325343 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:25325343G>A ENST00000549804.2 + 0 1377 SNORD116-14_ENST00000383894.1_RNA CAAAATGAGTGAAAACTCTAT 0.448000 94 263 0 0 0.014410 0 0 CD80 941 broad.mit.edu 37 3 119256207 119256207 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:119256207C>T ENST00000264246.3 - 4 839 c.477G>A c.(475-477)agG>agA p.R159R CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Silent_p.R159R|CD80_ENST00000383669.3_Silent_p.R159R NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 159 Ig-like C2-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) AGCAAATTATCCTTCTAATAT 0.363000 48 61 0 0 0.014410 0 0 GUSBP1 728411 broad.mit.edu 37 5 21461940 21461940 + RNA SNP G G A rs137972597 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:21461940G>A ENST00000607545.1 + 0 144 NR_027026.1 GAACAAACTCGAAGAACAGCT 0.368000 68 120 0 0 0.014410 0 0 RNASE9 390443 broad.mit.edu 37 14 21025008 21025008 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:21025008C>T ENST00000557068.1 - 4 1946 c.221G>A c.(220-222)gGa>gAa p.G74E RNASE9_ENST00000554964.1_Missense_Mutation_p.G74E|RNASE9_ENST00000553706.1_Missense_Mutation_p.G79E|RNASE9_ENST00000553541.1_Missense_Mutation_p.G74E|RNASE9_ENST00000429244.2_Missense_Mutation_p.G74E|RNASE9_ENST00000404716.3_Missense_Mutation_p.G79E|RNASE9_ENST00000338904.3_Missense_Mutation_p.G74E|RNASE9_ENST00000557209.1_Missense_Mutation_p.G79E|RNASE9_ENST00000556208.1_Missense_Mutation_p.G79E|RNASE9_ENST00000555230.1_Missense_Mutation_p.G74E P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 74 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TAGTGGCATTCCAGGTTCAAT 0.378000 42 133 0 0 0.010771 0 0 MYO18B 84700 broad.mit.edu 37 22 26299772 26299772 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:26299772G>A ENST00000335473.7 + 31 5372 c.5122G>A c.(5122-5124)Gaa>Aaa p.E1708K MYO18B_ENST00000407587.2_Missense_Mutation_p.E1709K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1708K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1708 Gln-rich.|Tail. E -> K (in a lung adenocarcinoma sample; somatic mutation). 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 GAGCCAGCAGGAAAACACCAT 0.512000 4 10 0 0 0.009096 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819499 159819499 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:159819499C>T ENST00000497452.1 - 0 517 TTCAAGAGTCCCAGCAAAGAA 0.478000 110 389 0 0 0.014410 0 0 PSD4 23550 broad.mit.edu 37 2 113940513 113940513 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:113940513C>T ENST00000245796.6 + 2 675 c.480C>T c.(478-480)atC>atT p.I160I PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.I160I NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 160 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGCAGGCATCCTGCAGGCCC 0.607000 40 129 0 0 0.011902 0 0 CD96 10225 broad.mit.edu 37 3 111319755 111319755 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:111319755C>T ENST00000352690.4 + 7 1321 c.1081C>T c.(1081-1083)Ctc>Ttc p.L361F CD96_ENST00000283285.5_Missense_Mutation_p.L377F|CD96_ENST00000438817.2_Missense_Mutation_p.L361F NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 377 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GATCACTTTTCTCTTAGGTGA 0.368000 Opitz Trigonocephaly syndrome 21 71 0 0 0.012319 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876109 74876109 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:74876109C>T ENST00000331628.3 - 2 586 c.339G>A c.(337-339)gaG>gaA p.E113E SYNDIG1L_ENST00000554823.1_Silent_p.E113E NM_001105579.1 NP_001099049.1 A6NDD5 SYN1L_HUMAN synapse differentiation inducing 1-like 113 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 TGGTGACATTCTCTGCAGCTT 0.597000 75 208 0 0 0.014410 0 0 OR2T6 254879 broad.mit.edu 37 1 248551041 248551041 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248551041C>T ENST00000355728.2 + 1 132 c.132C>T c.(130-132)gtC>gtT p.V44V NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) CTAATGGGGTCATGATCTTCC 0.468000 22 81 0 0 0.010504 0 0 NLRX1 79671 broad.mit.edu 37 11 119044590 119044590 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:119044590C>T ENST00000409109.1 + 5 1219 c.632C>T c.(631-633)tCc>tTc p.S211F NLRX1_ENST00000409991.1_Missense_Mutation_p.S211F|NLRX1_ENST00000525863.1_Missense_Mutation_p.S211F|NLRX1_ENST00000409265.4_Missense_Mutation_p.S211F|NLRX1_ENST00000292199.2_Missense_Mutation_p.S211F Q86UT6 NLRX1_HUMAN NLR family member X1 211 NACHT.|Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCCCCAGCCTCCCTGTGCCAA 0.627000 44 38 0 0 0.009718 0 0 CACNA1E 777 broad.mit.edu 37 1 181702150 181702150 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:181702150G>A ENST00000526775.1 + 19 3036 c.2871G>A c.(2869-2871)gaG>gaA p.E957E CACNA1E_ENST00000357570.5_Silent_p.E927E|CACNA1E_ENST00000367570.1_Silent_p.E976E|CACNA1E_ENST00000360108.3_Silent_p.E957E|CACNA1E_ENST00000367573.2_Silent_p.E976E|CACNA1E_ENST00000358338.5_Silent_p.E908E|CACNA1E_ENST00000367567.4_Silent_p.E583E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 976 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 TCCAAGAAGAGAGAGCCCAGG 0.552000 14 56 0 0 0.002450 0 0 DDR1 780 broad.mit.edu 37 6 30862382 30862382 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:30862382C>T ENST00000324771.8 + 13 1995 c.1447C>T c.(1447-1449)Ccg>Tcg p.P483S DDR1_ENST00000418800.2_Missense_Mutation_p.P483S|DDR1_ENST00000376570.4_Missense_Mutation_p.P483S|DDR1_ENST00000508312.1_Missense_Mutation_p.P501S|DDR1_ENST00000454612.2_Missense_Mutation_p.P483S|DDR1_ENST00000376575.3_Missense_Mutation_p.P483S|DDR1_ENST00000452441.1_Missense_Mutation_p.P483S|DDR1_ENST00000361741.4_Silent_p.P186P|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.P483S|DDR1_ENST00000513240.1_Missense_Mutation_p.P483S|DDR1_ENST00000376567.2_Missense_Mutation_p.P483S|DDR1_ENST00000376569.3_Missense_Mutation_p.P483S Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 483 Gly/Pro-rich. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) AGAGCCACCCCCGTACCAGGA 0.627000 40 151 0 0 0.011902 0 0 NLRP5 126206 broad.mit.edu 37 19 56539137 56539137 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56539137G>A ENST00000390649.3 + 7 1538 c.1538G>A c.(1537-1539)cGa>cAa p.R513Q NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 513 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) CTCACCCCTCGAGGCGTGGTC 0.597000 18 21 0 0 0.002780 0 0 ADRA2B 151 broad.mit.edu 37 2 96781270 96781270 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:96781270G>A ENST00000409345.3 - 1 714 c.619C>T c.(619-621)Ccc>Tcc p.P207S NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 207 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) TTGGCCCTGGGACCTCTGCGG 0.627000 33 54 0 0 0.003271 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883992 228883992 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:228883992C>T ENST00000392056.3 - 7 1624 c.1578G>A c.(1576-1578)tcG>tcA p.S526S SPHKAP_ENST00000344657.5_Silent_p.S526S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 526 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) GGGGAAAGTTCGAGACCACTT 0.502000 38 106 0 0 0.006230 0 0 FBXO9 26268 broad.mit.edu 37 6 52957291 52957291 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:52957291C>T ENST00000244426.6 + 7 920 c.748C>T c.(748-750)Ccg>Tcg p.P250S FBXO9_ENST00000323557.7_Missense_Mutation_p.P240S|FBXO9_ENST00000370939.3_Missense_Mutation_p.P206S NM_012347.4 NP_036479.1 Q9UK97 FBX9_HUMAN F-box protein 9 250 ubiquitin ligase complex ubiquitin-protein ligase activity kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1) 9 Lung NSC(77;0.103) TAAACTTGTTCCGTACACGTC 0.418000 51 126 0 0 0.014410 0 0 CHST5 23563 broad.mit.edu 37 16 75563461 75563461 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:75563461G>A ENST00000336257.3 - 3 2216 c.822C>T c.(820-822)atC>atT p.I274I CHST5_ENST00000541075.1_Silent_p.I280I|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 274 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CGGCCTCGGCGATGCGCACGT 0.716000 45 88 0 0 0.014410 0 0 CD200R1 131450 broad.mit.edu 37 3 112648058 112648058 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:112648058C>T ENST00000471858.1 - 3 662 c.430G>A c.(430-432)Gga>Aga p.G144R CD200R1_ENST00000490004.1_Missense_Mutation_p.G144R|CD200R1_ENST00000440122.2_Missense_Mutation_p.G167R|CD200R1_ENST00000295863.4_Missense_Mutation_p.G122R|CD200R1_ENST00000308611.3_Missense_Mutation_p.G167R NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 144 Ig-like C2-type. interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity p.G167*(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 AGGTGATATCCACGATGGAAA 0.428000 27 108 0 0 0.006320 0 0 SYT15 83849 broad.mit.edu 37 10 46967611 46967611 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:46967611C>T ENST00000374323.3 - 3 1212 c.625G>A c.(625-627)Gaa>Aaa p.E209K SYT15_ENST00000374321.4_Missense_Mutation_p.E156K|SYT15_ENST00000503753.1_Missense_Mutation_p.E156K|SYT15_ENST00000374325.3_Missense_Mutation_p.E156K Q9BQS2 SYT15_HUMAN synaptotagmin XV 156 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TGCTCATATTCCACCGAGAAC 0.622000 43 128 0 0 0.007835 0 0 MTX3 345778 broad.mit.edu 37 5 79284378 79284378 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:79284378G>A ENST00000512560.1 - 4 347 c.228C>T c.(226-228)atC>atT p.I76I MTX3_ENST00000512528.1_Silent_p.I137I|MTX3_ENST00000509852.1_Silent_p.I137I NM_001167741.1 NP_001161213.1 Q5HYI7 MTX3_HUMAN metaxin 3 137 protein targeting to mitochondrion mitochondrial outer membrane endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1) 7 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) TTCCAGGCAGGATCAAACTCA 0.458000 9 17 0 0 0.004482 0 0 AHDC1 27245 broad.mit.edu 37 1 27875278 27875278 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:27875278G>A ENST00000374011.2 - 6 4317 c.3349C>T c.(3349-3351)Ctg>Ttg p.L1117L AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.L1117L NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1117 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) GCCCAGTCCAGGCCTCCATAG 0.612000 37 130 0 0 0.006230 0 0 GALNT14 79623 broad.mit.edu 37 2 31178546 31178546 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:31178546G>A ENST00000349752.5 - 6 1231 c.592C>T c.(592-594)Ctc>Ttc p.L198F GALNT14_ENST00000356174.3_Missense_Mutation_p.L165F|GALNT14_ENST00000420311.2_Missense_Mutation_p.L163F|GALNT14_ENST00000406653.1_Missense_Mutation_p.L178F|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.L203F NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 198 Catalytic subdomain A. 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) TGGCTGTCGAGGAAAGTCAGA 0.627000 29 78 0 0 0.006320 0 0 SCNN1G 6340 broad.mit.edu 37 16 23208665 23208665 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:23208665C>T ENST00000300061.2 + 6 1137 c.994C>T c.(994-996)Cat>Tat p.H332Y CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 332 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) GGTGATCATCCATCGGCAGGA 0.468000 23 41 0 0 0.014323 0 0 DPPA2 151871 broad.mit.edu 37 3 109031453 109031453 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:109031453C>T ENST00000478945.1 - 3 366 c.120G>A c.(118-120)atG>atA p.M40I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 40 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CGCTTGGTTCCATTTGTTCCA 0.413000 140 182 0 0 0.014410 0 0 SEMA4A 64218 broad.mit.edu 37 1 156124465 156124465 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:156124465G>A ENST00000368285.3 + 2 363 c.96G>A c.(94-96)ggG>ggA p.G32G SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000368282.1_Silent_p.G32G|SEMA4A_ENST00000355014.2_Silent_p.G32G|SEMA4A_ENST00000368286.2_5'UTR NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 32 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CGACCGCGGGGGGAGGCGGGC 0.647000 15 26 0 0 0.008871 0 0 SLC25A12 8604 broad.mit.edu 37 2 172700923 172700923 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:172700923G>A ENST00000422440.2 - 5 458 c.421C>T c.(421-423)Cgg>Tgg p.R141W SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Missense_Mutation_p.R34W NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 141 EF-hand 3. gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TGCTTCTTCCGGTTATGCCCA 0.358000 34 105 0 0 0.003271 0 0 PRRX1 5396 broad.mit.edu 37 1 170699449 170699449 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:170699449G>A ENST00000367760.3 + 4 1716 c.631G>A c.(631-633)Gag>Aag p.E211K PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGTTTACACGAGGGGCTTCA 0.478000 86 128 0 0 0.014410 0 0 GCM1 8521 broad.mit.edu 37 6 52996869 52996869 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:52996869C>T ENST00000259803.7 - 4 588 c.377G>A c.(376-378)cGa>cAa p.R126Q NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 126 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CCCATGACCTCGGCAAGGGAT 0.507000 28 89 0 0 0.013726 0 0 RASAL3 64926 broad.mit.edu 37 19 15567445 15567445 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15567445C>T ENST00000343625.6 - 10 1524 c.1444G>A c.(1444-1446)Gac>Aac p.D482N RASAL3_ENST00000595098.1_5'UTR NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 482 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GTGCCCAGGTCAGTCACCAGC 0.602000 22 29 0 0 0.004656 0 0 OR10H5 284433 broad.mit.edu 37 19 15905563 15905563 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15905563G>A ENST00000308940.8 + 1 803 c.705G>A c.(703-705)cgG>cgA p.R235R NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CTGAAGGTCGGAACAAGGCCT 0.562000 36 122 0 0 0.010771 0 0 SPEG 10290 broad.mit.edu 37 2 220312828 220312828 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:220312828C>T ENST00000312358.7 + 4 1080 c.948C>T c.(946-948)gtC>gtT p.V316V SPEG_ENST00000396698.1_Silent_p.V212V|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 316 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCTCGGGTCGGGAAGCGGT 0.751000 9 17 0 0 0.006214 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42114441 42114441 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:42114441C>T ENST00000457542.2 + 26 3336 c.3050C>T c.(3049-3051)cCc>cTc p.P1017L MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P856L|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P900L|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P1017L|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1023L NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1023 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGCACGGAGCCCCTCAGTGTG 0.627000 27 75 0 0 0.007291 0 0 BRINP1 1620 broad.mit.edu 37 9 121930199 121930199 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:121930199G>A ENST00000265922.3 - 8 1910 c.1449C>T c.(1447-1449)ttC>ttT p.F483F DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 483 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCAGGTCCTGGAAGTCCAGGT 0.562000 31 78 0 0 0.008361 0 0 TNIK 23043 broad.mit.edu 37 3 170846571 170846571 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:170846571C>T ENST00000436636.2 - 16 2049 c.1705G>A c.(1705-1707)Gag>Aag p.E569K TNIK_ENST00000470834.1_Missense_Mutation_p.E540K|TNIK_ENST00000369326.5_Missense_Mutation_p.E540K|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000357327.5_Missense_Mutation_p.E540K|TNIK_ENST00000284483.8_Missense_Mutation_p.E569K|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 569 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) CTGAAGGACTCCGACCTTGGG 0.567000 11 48 0 0 0.013537 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110499029 110499029 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110499029G>A ENST00000378402.5 + 59 9963 c.9859G>A c.(9859-9861)Gaa>Aaa p.E3287K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3287 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) CTCATTCACTGAAAATATGAT 0.368000 HNSCC(38;0.096) 10 53 0 0 0.013537 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710921 14710921 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:14710921C>T ENST00000547437.1 + 12 898 c.821C>T c.(820-822)tCa>tTa p.S274L CLEC17A_ENST00000397439.2_Missense_Mutation_p.S257L|CLEC17A_ENST00000417570.1_Missense_Mutation_p.S274L NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 274 C-type lectin. cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity AGCACCAAGTCATGGGATGAG 0.522000 27 108 0 0 0.007291 0 0 CDH8 1006 broad.mit.edu 37 16 61761101 61761101 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:61761101G>A ENST00000577390.1 - 9 2387 c.1433C>T c.(1432-1434)tCa>tTa p.S478L CDH8_ENST00000299345.6_Missense_Mutation_p.S478L|CDH8_ENST00000577730.1_Missense_Mutation_p.S478L|CDH8_ENST00000584337.1_Missense_Mutation_p.S478L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 478 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGGTACTCGTGATATCTGACT 0.413000 8 49 0 0 0.003080 0 0 IL12RB1 3594 broad.mit.edu 37 19 18170811 18170811 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:18170811C>T ENST00000600835.1 - 17 2179 c.1876G>A c.(1876-1878)Ggc>Agc p.G626S IL12RB1_ENST00000593993.1_Missense_Mutation_p.G626S|IL12RB1_ENST00000430026.2_Missense_Mutation_p.G626S P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 626 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GTCCTCTCGCCTTTGTCCCAG 0.587000 26 30 0 0 0.004656 0 0 AP4E1 23431 broad.mit.edu 37 15 51285609 51285609 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:51285609G>A ENST00000261842.5 + 17 2239 c.2133G>A c.(2131-2133)ggG>ggA p.G711G AP4E1_ENST00000560508.1_Silent_p.G636G NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 711 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) AATTGTGGGGGAAAGAAGGCT 0.378000 20 35 0 0 0.010504 0 0 MGAM 8972 broad.mit.edu 37 7 141734488 141734488 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:141734488C>T ENST00000475668.2 + 16 1860 c.1806C>T c.(1804-1806)ttC>ttT p.F602F MGAM_ENST00000549489.2_Silent_p.F602F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 602 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) AGACTGTGTTCCCTAATAAGA 0.488000 10 20 0 0 0.010729 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709708 22709708 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:22709708G>A ENST00000314246.8 - 0 1076 CTTCTTCAACGAGCAAACCTG 0.547000 97 217 0 0 0.014410 0 0 MTERFD2 130916 broad.mit.edu 37 2 242035496 242035496 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:242035496C>T ENST00000391980.2 - 4 1121 c.1063G>A c.(1063-1065)Gac>Aac p.D355N MTERFD2_ENST00000406593.1_Missense_Mutation_p.D167N|MTERFD2_ENST00000495694.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 355 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) tcatcattgtcatcctcatca 0.517000 33 70 0 0 0.012213 0 0 FILIP1 27145 broad.mit.edu 37 6 76022428 76022428 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:76022428G>A ENST00000393004.2 - 5 3341 c.3120C>T c.(3118-3120)acC>acT p.T1040T FILIP1_ENST00000370020.1_Silent_p.T941T|FILIP1_ENST00000237172.7_Silent_p.T1040T|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1040 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GTTTTTCTGGGGTGACTTTGA 0.453000 95 145 0 0 0.014410 0 0 SPATC1 375686 broad.mit.edu 37 8 145095066 145095066 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145095066C>T ENST00000377470.3 + 2 570 c.468C>T c.(466-468)tcC>tcT p.S156S SPATC1_ENST00000447830.2_Silent_p.S156S NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 156 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCCAGTTCCCTGGGCCTGC 0.672000 6 26 0 0 0.001168 0 0 PLD1 5337 broad.mit.edu 37 3 171320910 171320910 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:171320910A>G ENST00000356327.5 - 26 3139 c.3069T>C c.(3067-3069)gtT>gtC p.V1023V PLD1_ENST00000351298.4_Silent_p.V1061V|PLD1_ENST00000342215.6_3'UTR NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 1061 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CTTTGGTCCCAACAGAAGGCA 0.473000 13 65 0 0 0.002450 0 0 DTX3 196403 broad.mit.edu 37 12 58001367 58001367 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:58001367C>T ENST00000548198.1 + 3 2225 c.721C>T c.(721-723)Cag>Tag p.Q241* DTX3_ENST00000337737.3_Nonsense_Mutation_p.Q241*|DTX3_ENST00000551632.1_Nonsense_Mutation_p.Q244*|DTX3_ENST00000548804.1_Nonsense_Mutation_p.Q241* Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 241 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) CATTGTCATCCAGTACGTCTT 0.602000 47 153 0 0 0.014410 0 0 ADCY5 111 broad.mit.edu 37 3 123023025 123023025 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:123023025G>A ENST00000462833.1 - 13 3660 c.2448C>T c.(2446-2448)ttC>ttT p.F816F ADCY5_ENST00000309879.5_Silent_p.F466F|ADCY5_ENST00000491190.1_Silent_p.F449F NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 816 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GTGgggaggggaagagctagg 0.612000 12 55 0 0 0.013537 0 0 TOX2 84969 broad.mit.edu 37 20 42635286 42635286 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:42635286G>A ENST00000358131.5 + 3 500 c.292G>A c.(292-294)Gaa>Aaa p.E98K TOX2_ENST00000372999.1_Missense_Mutation_p.E47K|TOX2_ENST00000423191.1_Missense_Mutation_p.E47K|TOX2_ENST00000341197.3_Missense_Mutation_p.E89K NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 98 Required for transcriptional activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GGGGGACCACGAAGCCAGCTA 0.617000 28 94 0 0 0.007291 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169640 207169640 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:207169640G>A ENST00000374423.3 + 5 774 c.388G>A c.(388-390)Gag>Aag p.E130K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 130 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 AGGCACGCAGGAGGTTTCAGT 0.458000 8 32 0 0 0.004482 0 0 ADH5 128 broad.mit.edu 37 4 100006318 100006318 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:100006318G>A ENST00000296412.8 - 2 112 c.62C>T c.(61-63)tCc>tTc p.S21F ADH5_ENST00000512991.1_5'UTR NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide 21 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) CTCCTCTATGGAGAGAGGCTT 0.453000 7 12 0 0 0.004482 0 0 HGF 3082 broad.mit.edu 37 7 81331939 81331939 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:81331939C>T ENST00000222390.5 - 18 2371 c.2145G>A c.(2143-2145)tgG>tgA p.W715* HGF_ENST00000457544.2_Nonsense_Mutation_p.W710* NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 715 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TTTTGTGTATCCATTTTGCAT 0.373000 12 32 0 0 0.013537 0 0 DCST2 127579 broad.mit.edu 37 1 155005177 155005177 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:155005177G>A ENST00000368424.3 - 3 565 c.507C>T c.(505-507)ttC>ttT p.F169F DCST2_ENST00000295536.5_Silent_p.F169F NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 169 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGACCGAAAGAACTTGCGGA 0.542000 46 188 0 0 0.014410 0 0 L1TD1 54596 broad.mit.edu 37 1 62675887 62675887 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:62675887G>A ENST00000498273.1 + 4 1736 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 481 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 ATCAGAGGAGGAAGAAGAAGG 0.403000 24 61 0 0 0.003330 0 0 FGF17 8822 broad.mit.edu 37 8 21903803 21903803 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:21903803G>A ENST00000359441.3 + 3 753 c.e3+1 FGF17_ENST00000518533.1_Splice_Site|FGF17_ENST00000521709.1_Splice_Site NM_003867.2 NP_003858.1 O60258 FGF17_HUMAN fibroblast growth factor 17 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) AACAAGTTTGGTGAGAGTTGG 0.642000 42 57 0 0 0.007835 0 0 DIDO1 11083 broad.mit.edu 37 20 61525489 61525489 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:61525489G>A ENST00000266070.4 - 12 2955 c.2630C>T c.(2629-2631)tCt>tTt p.S877F DIDO1_ENST00000395340.1_Missense_Mutation_p.S877F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S877F|DIDO1_ENST00000395335.2_Missense_Mutation_p.S877F NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 877 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.S877F(1) 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) TTTCTTAACAGAAGCTGACAA 0.512000 73 249 0 0 0.014410 0 0 HIP1R 9026 broad.mit.edu 37 12 123341062 123341062 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:123341062G>A ENST00000253083.4 + 16 1610 c.1485G>A c.(1483-1485)caG>caA p.Q495Q NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 495 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) TGGCCTTCCAGGTGGAGCAGG 0.657000 6 19 0 0 0.001168 0 0 DNAH2 146754 broad.mit.edu 37 17 7695608 7695608 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7695608G>A ENST00000572933.1 + 46 8552 c.7092G>A c.(7090-7092)cgG>cgA p.R2364R DNAH2_ENST00000389173.2_Silent_p.R2364R Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2364 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) CCAAAATACGGAGTTGGACAT 0.532000 74 121 0 0 0.014410 0 0 EFCAB6 64800 broad.mit.edu 37 22 44068144 44068144 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:44068144G>A ENST00000262726.7 - 14 1714 c.1461C>T c.(1459-1461)ttC>ttT p.F487F EFCAB6_ENST00000396231.2_Silent_p.F335F NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 487 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) AGGCCAGGAGGAAAGGTGTCT 0.403000 32 84 0 0 0.013726 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424823 69424823 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:69424823C>T ENST00000333026.3 + 7 981 c.881C>T c.(880-882)cCc>cTc p.P294L NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 294 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 CTTCCAATTCCCAGGATTAAG 0.468000 16 22 0 0 0.007413 0 0 MARCH7 64844 broad.mit.edu 37 2 160585558 160585558 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:160585558C>T ENST00000259050.3 + 2 147 c.25C>T c.(25-27)Cca>Tca p.P9S MARCH7_ENST00000409175.1_Missense_Mutation_p.P9S|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.P9S NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 9 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TTCAAGGATTCCAAGAAGAAT 0.343000 25 51 0 0 0.004656 0 0 RANBP10 57610 broad.mit.edu 37 16 67763291 67763291 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67763291G>A ENST00000317506.3 - 10 1359 c.1244C>T c.(1243-1245)tCc>tTc p.S415F RANBP10_ENST00000411657.2_Missense_Mutation_p.S298F|RANBP10_ENST00000536251.1_Missense_Mutation_p.S186F|RANBP10_ENST00000448631.2_Missense_Mutation_p.S359F|RANBP10_ENST00000602677.1_Missense_Mutation_p.S415F NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 415 Ser-rich. endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaggaggaggaggacgagga 0.562000 10 47 0 0 0.006214 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452934 106452934 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106452934C>T ENST00000390594.2 - 0 151 GGCTTCTTCACCTCAGCCCCA 0.577000 48 113 0 0 0.014410 0 0 TCTE1 202500 broad.mit.edu 37 6 44254128 44254128 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:44254128G>A ENST00000371505.4 - 3 541 c.419C>T c.(418-420)cCc>cTc p.P140L TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 140 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(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) GTGGCACACGGGCCAGCGATG 0.597000 49 139 0 0 0.014410 0 0 CFB 629 broad.mit.edu 37 6 31911708 31911708 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31911708C>T ENST00000556679.1 + 11 1344 c.1289C>T c.(1288-1290)cCc>cTc p.P430L CFB_ENST00000477310.1_Missense_Mutation_p.P354L|C2_ENST00000452323.2_Missense_Mutation_p.P369L|C2_ENST00000442278.2_Missense_Mutation_p.P451L|C2_ENST00000299367.5_Missense_Mutation_p.P583L|C2_ENST00000469372.1_Missense_Mutation_p.P337L|CFB_ENST00000456570.1_Missense_Mutation_p.P430L|C2_ENST00000468407.1_3'UTR P00751 CFAB_HUMAN complement factor B 598 VWFA. 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 ATCTGCCTTCCCTGCACGATG 0.612000 46 134 0 0 0.014410 0 0 KCNV1 27012 broad.mit.edu 37 8 110984641 110984641 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:110984641G>A ENST00000524391.1 - 3 1869 c.837C>T c.(835-837)gaC>gaT p.D279D KCNV1_ENST00000297404.1_Silent_p.D279D Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 279 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGGCAAGGAGGTCTATGATGT 0.552000 23 63 0 0 0.012319 0 0 EPHA3 2042 broad.mit.edu 37 3 89462371 89462371 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:89462371G>A ENST00000336596.2 + 10 2068 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K EPHA3_ENST00000494014.1_Missense_Mutation_p.E615K NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 615 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTTTGCCAAGGAATTGGATGC 0.423000 TSP Lung(6;0.00050) 15 71 0 0 0.004007 0 0 CSF1R 1436 broad.mit.edu 37 5 149460515 149460515 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:149460515C>T ENST00000286301.3 - 3 413 c.122G>A c.(121-123)cGa>cAa p.R41Q CSF1R_ENST00000543093.1_Missense_Mutation_p.R41Q NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 41 Ig-like C2-type 1. 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) GCCCACACATCGCAAGGTCAC 0.597000 20 25 0 0 0.008871 0 0 DAAM1 23002 broad.mit.edu 37 14 59791096 59791096 + Missense_Mutation SNP C C T rs150648068 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:59791096C>T ENST00000395125.1 + 7 936 c.913C>T c.(913-915)Cgc>Tgc p.R305C DAAM1_ENST00000360909.3_Missense_Mutation_p.R305C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R305C NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 305 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) ACTTCATCTTCGCTATGAATT 0.284000 35 101 0 0 0.008740 0 0 LRRC52 440699 broad.mit.edu 37 1 165513878 165513878 + Silent SNP G G A rs149047999 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:165513878G>A ENST00000294818.1 + 1 635 c.345G>A c.(343-345)tcG>tcA p.S115S RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA NM_001005214.3 NP_001005214.2 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 115 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) ACCTAACCTCGATCTCCCCAT 0.493000 126 195 0 0 0.014410 0 0 NLRP14 338323 broad.mit.edu 37 11 7064301 7064301 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:7064301G>A ENST00000299481.4 + 4 1390 c.1044G>A c.(1042-1044)tgG>tgA p.W348* NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 348 NACHT. 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) ATAAGAGGTGGGCCATGAAAG 0.428000 13 73 0 0 0.001855 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905801 164905801 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:164905801C>T ENST00000475390.1 - 2 3261 c.2818G>A c.(2818-2820)Gga>Aga p.G940R SLITRK3_ENST00000241274.3_Missense_Mutation_p.G940R O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 940 G -> E (in Ref. 1; BAA74871). 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 AAGCCCTTTCCAGCCGAGAAG 0.502000 HNSCC(40;0.11) 170 223 0 0 0.014410 0 0 IQCH 64799 broad.mit.edu 37 15 67664823 67664823 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:67664823C>T ENST00000335894.4 + 9 1194 c.1128C>T c.(1126-1128)atC>atT p.I376I IQCH_ENST00000360277.4_Silent_p.I128I|IQCH_ENST00000358767.3_Silent_p.I203I|IQCH_ENST00000546225.1_Silent_p.I124I NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 376 IQ. NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CCATGAAGATCCAAGCCACAT 0.463000 30 74 0 0 0.009535 0 0 TAF4 6874 broad.mit.edu 37 20 60574056 60574056 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:60574056G>A ENST00000252996.3 - 12 2895 c.2896C>T c.(2896-2898)Ctg>Ttg p.L966L NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 966 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) GCCCTCATCAGGATCTCCCGC 0.557000 163 385 0 0 0.014410 0 0 JKAMP 51528 broad.mit.edu 37 14 59954515 59954515 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:59954515T>C ENST00000554271.1 + 3 788 c.262T>C c.(262-264)Ttc>Ctc p.F88L JKAMP_ENST00000425728.2_Missense_Mutation_p.F68L|JKAMP_ENST00000261247.9_Missense_Mutation_p.F74L|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000556985.1_Missense_Mutation_p.F74L|JKAMP_ENST00000356057.5_Missense_Mutation_p.F82L Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 89 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 TTTACATTGGTTCTTCATTGA 0.383000 133 383 0 0 0.014410 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607563 84607563 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:84607563G>A ENST00000344803.2 + 4 2225 c.2178G>A c.(2176-2178)gaG>gaA p.E726E NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTGTGTCAGAGAGAATTCATG 0.498000 20 53 0 0 0.012319 0 0 JAG2 3714 broad.mit.edu 37 14 105615171 105615171 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:105615171G>A ENST00000331782.3 - 15 2334 c.1931C>T c.(1930-1932)cCc>cTc p.P644L JAG2_ENST00000347004.2_Missense_Mutation_p.P606L NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 644 EGF-like 11; calcium-binding (Potential). auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) ATTGCGGCAGGGCTGGCCCAG 0.692000 5 16 0 0 0.001168 0 0 ATP10B 23120 broad.mit.edu 37 5 160039886 160039886 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:160039886C>T ENST00000327245.5 - 18 3546 c.2700G>A c.(2698-2700)acG>acA p.T900T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 900 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) GAGTGGCAATCGTATCTGGAA 0.507000 15 22 0 0 0.004007 0 0 OR2F2 135948 broad.mit.edu 37 7 143633246 143633246 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:143633246A>T ENST00000408955.2 + 1 988 c.921A>T c.(919-921)aaA>aaT p.K307N NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TATTAGAGAAATTCTCTGGGT 0.428000 34 63 0 0 0.003755 0 0 ATP2B4 493 broad.mit.edu 37 1 203676236 203676236 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:203676236C>T ENST00000357681.5 + 9 2322 c.1199C>T c.(1198-1200)cCc>cTc p.P400L ATP2B4_ENST00000391954.2_Missense_Mutation_p.P400L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.P388L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.P400L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.P400L NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 400 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GAGTGTACTCCCATCTACATC 0.493000 22 62 0 0 0.012319 0 0 OR2W3 343171 broad.mit.edu 37 1 248059118 248059118 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248059118C>T ENST00000537741.1 + 3 487 c.230C>T c.(229-231)tCc>tTc p.S77F OR2W3_ENST00000360358.3_Missense_Mutation_p.S77F Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACCACCAGCTCCATCCCCCAG 0.577000 116 177 0 0 0.014410 0 0 MUC4 4585 broad.mit.edu 37 3 195517402 195517402 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:195517402G>A ENST00000463781.3 - 2 1508 c.1049C>T c.(1048-1050)tCa>tTa p.S350L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S350L|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 355 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) TAAAACAGTTGATGTTGTAAC 0.478000 103 409 0 0 0.014410 0 0 TACR3 6870 broad.mit.edu 37 4 104512783 104512783 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:104512783G>A ENST00000304883.2 - 4 1086 c.946C>T c.(946-948)Cat>Tat p.H316Y RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 316 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) AAGTAAATATGATAGGGCAGC 0.353000 4 33 0 0 0.009096 0 0 CHRM3 1131 broad.mit.edu 37 1 240071338 240071338 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:240071338C>T ENST00000255380.4 + 5 1366 c.587C>T c.(586-588)tCc>tTc p.S196F NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 196 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity p.S196F(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGGGTCATCTCCTTTGTCCTT 0.517000 91 207 0 0 0.014410 0 0 RFX4 5992 broad.mit.edu 37 12 107075789 107075789 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:107075789C>T ENST00000392842.1 + 5 748 c.334C>T c.(334-336)Cct>Tct p.P112S RFX4_ENST00000357881.4_Missense_Mutation_p.P121S|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.2_ENST00000547531.1_RNA NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 112 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GCAGCAGTTTCCTCAGTTAAC 0.498000 27 87 0 0 0.008361 0 0 PCSK1 5122 broad.mit.edu 37 5 95757603 95757603 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:95757603C>T ENST00000311106.3 - 5 838 c.601G>A c.(601-603)Gat>Aat p.D201N CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.D154N NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 201 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.D201N(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTGTGGGATCATATCGGGGA 0.318000 40 83 0 0 0.009718 0 0 MORC1 27136 broad.mit.edu 37 3 108682428 108682428 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:108682428C>T ENST00000232603.5 - 27 2714 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K MORC1_ENST00000483760.1_Missense_Mutation_p.E857K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 878 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATTTTTTTTTCATATTGGACC 0.279000 13 70 0 0 0.013537 0 0 FILIP1 27145 broad.mit.edu 37 6 76022427 76022427 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:76022427G>A ENST00000393004.2 - 5 3342 c.3121C>T c.(3121-3123)Cca>Tca p.P1041S FILIP1_ENST00000370020.1_Missense_Mutation_p.P942S|FILIP1_ENST00000237172.7_Missense_Mutation_p.P1041S|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1041 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGTTTTTCTGGGGTGACTTTG 0.453000 96 143 0 0 0.014410 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725369 106725369 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106725369C>T ENST00000390609.2 - 0 261 CCAGCCCCTTCCCTGGAGCCT 0.582000 84 358 0 0 0.014410 0 0 HEPH 9843 broad.mit.edu 37 X 65390543 65390543 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:65390543G>A ENST00000519389.1 + 2 472 c.293G>A c.(292-294)aGa>aAa p.R98K HEPH_ENST00000343002.2_Missense_Mutation_p.R44K|HEPH_ENST00000419594.1_Missense_Mutation_p.R47K|HEPH_ENST00000374727.3_Missense_Mutation_p.R47K|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.R47K Q9BQS7 HEPH_HUMAN hephaestin 44 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CCCAAGGGAAGAAATGTCATC 0.498000 11 11 0 0 0.013537 0 0 EPPK1 83481 broad.mit.edu 37 8 144941340 144941340 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:144941340C>T ENST00000525985.1 - 2 6153 c.6082G>A c.(6082-6084)Gaa>Aaa p.E2028K P58107 EPIPL_HUMAN epiplakin 1 2028 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TAGGCTGTTTCCAGTGGGAGC 0.602000 12 69 0 0 0.001855 0 0 ZMYM6 9204 broad.mit.edu 37 1 35480350 35480350 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:35480350G>A ENST00000357182.4 - 6 970 c.743C>T c.(742-744)cCt>cTt p.P248L ZMYM6_ENST00000373340.2_Missense_Mutation_p.P248L|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P248L NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 248 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGATTGGCAAGGACCAGAGCT 0.413000 26 86 0 0 0.010818 0 0 IL7R 3575 broad.mit.edu 37 5 35875685 35875685 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:35875685G>A ENST00000303115.3 + 7 1001 c.872G>A c.(871-873)aGa>aAa p.R291K IL7R_ENST00000343305.4_Missense_Mutation_p.E260K|IL7R_ENST00000506850.1_Missense_Mutation_p.E260K NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 291 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AAGAAACCAAGAAAAGTGAGT 0.413000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 6 37 0 0 0.001168 0 0 SCN9A 6335 broad.mit.edu 37 2 167085202 167085202 + Splice_Site SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:167085202A>G ENST00000375387.4 - 22 4548 c.4209_splice c.e22+1 p.V1403_splice AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site_p.V1391_splice|SCN9A_ENST00000409435.1_Splice_Site_p.V1402_splice|SCN9A_ENST00000303354.6_Splice_Site_p.V1403_splice Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1402 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) GACACTTACAACTTGAAGCAG 0.313000 58 148 0 0 0.014410 0 0 MUC5B 727897 broad.mit.edu 37 11 1264202 1264202 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1264202G>A ENST00000447027.1 + 31 6159 c.6101G>A c.(6100-6102)gGg>gAg p.G2034E RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.G2031E Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2031 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCACAACTGGGGCCACCGGC 0.647000 97 235 0 0 0.014410 0 0 DPP10 57628 broad.mit.edu 37 2 116548887 116548887 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:116548887C>T ENST00000410059.1 + 19 2135 c.1655C>T c.(1654-1656)cCc>cTc p.P552L DPP10_ENST00000310323.8_Missense_Mutation_p.P545L|DPP10_ENST00000409163.1_Missense_Mutation_p.P502L|DPP10_ENST00000393147.2_Missense_Mutation_p.P556L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 552 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 TTGTCCCTTCCCAAAGATTTT 0.289000 51 150 0 0 0.014410 0 0 SLC15A2 6565 broad.mit.edu 37 3 121659684 121659684 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:121659684G>A ENST00000489711.1 + 22 2408 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K SLC15A2_ENST00000295605.2_Missense_Mutation_p.E643K NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 674 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GCAGTGGGCCGAATTCATTTT 0.473000 62 134 0 0 0.014410 0 0 TENM1 10178 broad.mit.edu 37 X 123515010 123515010 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:123515010G>A ENST00000422452.2 - 32 7638 c.7575C>T c.(7573-7575)gtC>gtT p.V2525V STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.V2518V NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.V2520V(1) AAACAGAAGGGACAGCAGCAA 0.458000 31 60 0 0 0.009535 0 0 CCDC33 80125 broad.mit.edu 37 15 74622634 74622634 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:74622634C>T ENST00000321288.5 + 14 2004 c.2004C>T c.(2002-2004)agC>agT p.S668S CCDC33_ENST00000398814.3_Silent_p.S465S|CCDC33_ENST00000558821.1_Silent_p.S58S|CCDC33_ENST00000268082.4_Silent_p.S58S Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 668 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TACTGAGGAGCCGCCTGGCCC 0.632000 13 35 0 0 0.001855 0 0 C20orf26 26074 broad.mit.edu 37 20 20232323 20232323 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:20232323C>T ENST00000245957.5 + 20 2320 c.2244C>T c.(2242-2244)gaC>gaT p.D748D C20orf26_ENST00000389656.3_Silent_p.D104D|C20orf26_ENST00000377293.1_Silent_p.D104D|C20orf26_ENST00000377309.2_Silent_p.D104D NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 748 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CCGGCATAGACCGAGCAGCCA 0.542000 83 157 0 0 0.014410 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113890 42113890 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:42113890C>T ENST00000457542.2 + 24 3113 c.2827C>T c.(2827-2829)Ccc>Tcc p.P943S MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P782S|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P826S|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P943S|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P949S NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 949 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GGAACCTGCACCCATTGAAGA 0.567000 62 138 0 0 0.014410 0 0 IGKV5-2 28907 broad.mit.edu 37 2 89197276 89197276 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:89197276C>T ENST00000390244.2 + 0 384 CATATTACTTCTGTCTACAAC 0.433000 12 23 0 0 0.010729 0 0 CELSR3 1951 broad.mit.edu 37 3 48691867 48691867 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:48691867G>A ENST00000544264.1 - 7 5287 c.5007C>T c.(5005-5007)ggC>ggT p.G1669G CELSR3_ENST00000164024.4_Silent_p.G1669G Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1669 Laminin G-like 1. 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) GAAGAAGAGGGCCCGTCAGGT 0.632000 26 43 0 0 0.007291 0 0 TRIM42 287015 broad.mit.edu 37 3 140407357 140407357 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:140407357G>A ENST00000286349.3 + 3 2024 c.1833G>A c.(1831-1833)caG>caA p.Q611Q NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 611 Fibronectin type-III. intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTATCTACCAGACTCTGGTGT 0.532000 38 171 0 0 0.006230 0 0 PASD1 139135 broad.mit.edu 37 X 150840850 150840850 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:150840850G>A ENST00000370357.4 + 14 1878 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 545 Lys-rich. nucleus signal transducer activity 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) gaagCTAcaggagcggaagaa 0.527000 8 15 0 0 0.003080 0 0 MUC6 4588 broad.mit.edu 37 11 1018158 1018158 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1018158T>C ENST00000421673.2 - 31 4693 c.4643A>G c.(4642-4644)aAc>aGc p.N1548S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1548 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACTAGTGGGGTTGGGAGTAAT 0.552000 137 299 0 0 0.014410 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252327 145252327 + Missense_Mutation SNP C C T rs447402 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:145252327C>T ENST00000377976.1 - 1 204 c.205G>A c.(205-207)Gaa>Aaa p.E69K NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 69 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 CTGGGGACTTCCCCAGACCCA 0.527000 24 45 0 0 0.003330 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533014 166533014 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:166533014G>A ENST00000314499.7 + 6 977 c.601G>A c.(601-603)Gaa>Aaa p.E201K CSRNP3_ENST00000409420.1_Missense_Mutation_p.E233K|CSRNP3_ENST00000342316.4_Missense_Mutation_p.E201K NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 201 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 AGAAAAGCACGAACTCCGAGC 0.522000 45 90 0 0 0.011902 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409140 56409140 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56409140C>T ENST00000544374.1 - 1 807 c.779G>A c.(778-780)gGa>gAa p.G260E OR5AP2_ENST00000302981.1_Missense_Mutation_p.G259E Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 259 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 GAGGATTGTTCCAAAGAATAT 0.448000 44 79 0 0 0.011902 0 0 LGI2 55203 broad.mit.edu 37 4 25005844 25005844 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:25005844G>A ENST00000382114.4 - 8 1052 c.867C>T c.(865-867)gtC>gtT p.V289V NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 289 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CCACCACAAAGACCTGATCAT 0.463000 33 165 0 0 0.003755 0 0 PRKACA 5566 broad.mit.edu 37 19 14213654 14213654 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:14213654G>A ENST00000308677.4 - 4 506 c.310C>T c.(310-312)Ctc>Ttc p.L104F PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.L96F|PRKACA_ENST00000350356.3_5'UTR NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 104 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 AGTTTGACGAGGAACGGAAAG 0.592000 54 121 0 0 0.014410 0 0 SCAND3 114821 broad.mit.edu 37 6 28542960 28542960 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:28542960G>A ENST00000452236.2 - 3 2139 c.1522C>T c.(1522-1524)Cag>Tag p.Q508* NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 508 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGATAGGGCTGATTTTGGGAC 0.423000 40 94 0 0 0.005524 0 0 PABPN1 8106 broad.mit.edu 37 14 23794485 23794485 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23794485C>T ENST00000216727.4 + 7 1092 c.911C>T c.(910-912)tCc>tTc p.S304F PABPN1_ENST00000397276.2_3'UTR|PABPN1_ENST00000556821.1_Missense_Mutation_p.S176F|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S331F|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S331F NM_004643.3 NP_004634.1 poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) TCATGGTATTCCCCTTACTAA 0.393000 59 150 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38691148 38691148 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:38691148G>A ENST00000449981.2 + 3 535 c.426G>A c.(424-426)ctG>ctA p.L142L DNAH8_ENST00000359357.3_5'UTR 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 GCCGAAGACTGAAAATTGACC 0.338000 55 127 0 0 0.014410 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337516 22337516 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22337516G>A ENST00000390436.2 + 0 330 CCAACCTGAAGACTCGGCTGT 0.498000 18 83 0 0 0.006122 0 0 DOCK3 1795 broad.mit.edu 37 3 51196675 51196675 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:51196675G>A ENST00000266037.9 + 11 852 c.828_splice c.e11-1 p.D277_splice NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 277 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) TTTCTCTTAGGATCTGAGCAG 0.343000 36 112 0 0 0.004289 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356519 22356519 + RNA SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22356519A>G ENST00000390437.2 + 0 282 GGTACAGACAATATTCTGGGA 0.468000 42 90 0 0 0.008740 0 0 GHSR 2693 broad.mit.edu 37 3 172163036 172163036 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:172163036C>T ENST00000241256.2 - 2 1058 c.1016G>A c.(1015-1017)gGa>gAa p.G339E NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 339 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GGGTTCGAATCCCAGAAGTCT 0.483000 55 191 0 0 0.014410 0 0 MXI1 4601 broad.mit.edu 37 10 111967831 111967831 + Nonsense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:111967831G>T ENST00000332674.5 + 1 469 c.265G>T c.(265-267)Gaa>Taa p.E89* RP11-549L6.3_ENST00000451656.1_RNA NM_130439.3 NP_569157.2 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein 25 Helix-loop-helix motif. cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) GATCGAGAAAGAAAACAAAAG 0.577000 22 34 1.55469e-16 1.58806e-16 0.003330 1 0 DUOX1 53905 broad.mit.edu 37 15 45440472 45440472 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:45440472C>T ENST00000321429.4 + 22 3052 c.2645C>T c.(2644-2646)tCc>tTc p.S882F DUOX1_ENST00000561166.1_Missense_Mutation_p.S528F|DUOX1_ENST00000389037.3_Missense_Mutation_p.S882F NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 882 EF-hand 2. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AACCCCAGATCCTTCATCGAG 0.602000 26 71 0 0 0.003954 0 0 RNF17 56163 broad.mit.edu 37 13 25404622 25404622 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:25404622G>A ENST00000255324.5 + 17 2298 c.2245_splice c.e17-1 p.G749_splice RNF17_ENST00000381921.1_Splice_Site_p.G749_splice NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 749 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATTTTTCAAGGATTGCCTGGA 0.303000 36 64 0 0 0.004289 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427609 25427609 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:25427609G>A ENST00000424208.1 + 0 272 SNHG14_ENST00000365306.1_RNA NR_003305.1 ATTACGCTGAGGCCCAGTCTA 0.532000 153 366 0 0 0.014410 0 0 LEF1 51176 broad.mit.edu 37 4 109002741 109002741 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:109002741C>T ENST00000265165.1 - 6 1377 c.e6+1 LEF1_ENST00000510624.1_Intron|LEF1_ENST00000379951.2_Intron|LEF1_ENST00000438313.2_Intron NM_016269.4 NP_057353.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding p.?(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CCTCCACCTACCTGGACATGG 0.562000 8 42 0 0 0.006214 0 0 CYP4F11 57834 broad.mit.edu 37 19 16038271 16038271 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:16038271C>T ENST00000326742.7 - 3 367 c.366G>A c.(364-366)atG>atA p.M122I CYP4F11_ENST00000248041.7_Missense_Mutation_p.M122I|CYP4F11_ENST00000402119.3_Missense_Mutation_p.M122I Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 122 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CATAGAAAATCATATCCTTGG 0.537000 118 516 0 0 0.014410 0 0 ITGB5 3693 broad.mit.edu 37 3 124515329 124515329 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:124515329G>A ENST00000296181.4 - 10 1895 c.1599C>T c.(1597-1599)tgC>tgT p.C533C ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 533 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CGAAGCAGGAGCACTGGTTGC 0.597000 102 115 0 0 0.014410 0 0 AQP6 363 broad.mit.edu 37 12 50369372 50369372 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:50369372G>A ENST00000315520.5 + 4 1104 c.767G>A c.(766-768)gGg>gAg p.G256E AQP6_ENST00000551733.1_Missense_Mutation_p.G82E NM_001652.3 NP_001643.2 Q13520 AQP6_HUMAN aquaporin 6, kidney specific 256 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 GTAGAGGTGGGGACAGGGGCA 0.652000 42 116 0 0 0.006230 0 0 BRINP2 57795 broad.mit.edu 37 1 177250385 177250385 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:177250385C>T ENST00000361539.4 + 8 2385 c.2073C>T c.(2071-2073)ccC>ccT p.P691P FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 691 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 ACAGCCTGCCCTTTGACCCAG 0.478000 82 253 0 0 0.014410 0 0 MYO16 23026 broad.mit.edu 37 13 109704812 109704812 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:109704812G>A ENST00000356711.2 + 25 3097 c.2971G>A c.(2971-2973)Gaa>Aaa p.E991K MYO16_ENST00000357550.2_Missense_Mutation_p.E991K|MYO16_ENST00000457511.2_Missense_Mutation_p.E503K NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 991 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GAATTATCTAGAACTTAGTAA 0.284000 41 23 0 0 0.008740 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751923 26751923 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:26751923G>A ENST00000396641.2 + 2 1352 c.760G>A c.(760-762)Gat>Aat p.D254N LRRC3B_ENST00000456208.2_Missense_Mutation_p.D254N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.D254N NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 254 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 TGAACCTGATGATATTAGCAC 0.428000 14 26 0 0 0.004007 0 0 OR4D2 124538 broad.mit.edu 37 17 56247769 56247769 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:56247769C>T ENST00000545221.1 + 1 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CCATGATCTTCGTTCCAAGCA 0.537000 60 181 0 0 0.014410 0 0 SEC22B 9554 broad.mit.edu 37 1 145115982 145115982 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:145115982C>T ENST00000453618.1 + 0 1068 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding GTATTAGAATCCAAGTGGAAC 0.398000 7 71 0 0 0.001984 0 0 ADAM11 4185 broad.mit.edu 37 17 42849670 42849670 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:42849670C>T ENST00000200557.6 + 7 748 c.579C>T c.(577-579)ctC>ctT p.L193L ADAM11_ENST00000535346.1_5'UTR NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 193 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) GGACCCCTCTCCTCCCAGATC 0.672000 7 26 0 0 0.008291 0 0 MUC3A 4584 broad.mit.edu 37 7 100552243 100552243 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100552243C>T ENST00000319509.7 + 1 994 c.994C>T c.(994-996)Cct>Tct p.P332S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TACCATAGTCCCTGCCTCTCC 0.478000 92 702 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38862615 38862615 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:38862615G>A ENST00000359357.3 + 57 8325 c.8071G>A c.(8071-8073)Gag>Aag p.E2691K DNAH8_ENST00000449981.2_Missense_Mutation_p.E2908K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2655K 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 TTTCAAACACGAGTGCAGCAG 0.403000 13 28 0 0 0.001855 0 0 KDM1A 23028 broad.mit.edu 37 1 23356988 23356988 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:23356988C>T ENST00000400181.4 + 2 482 c.378C>T c.(376-378)agC>agT p.S126S KDM1A_ENST00000356634.3_Silent_p.S126S|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.S126S NM_001009999.2 NP_001009999.1 O60341 KDM1A_HUMAN lysine (K)-specific demethylase 1A 126 blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGGATGAAAGCTTGGCCAACC 0.438000 22 51 0 0 0.003330 0 0 CLASP1 23332 broad.mit.edu 37 2 122125381 122125381 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:122125381G>A ENST00000263710.4 - 35 4058 c.3669C>T c.(3667-3669)tcC>tcT p.S1223S CLASP1_ENST00000545861.1_Silent_p.S930S|CLASP1_ENST00000455322.2_Silent_p.S1179S|CLASP1_ENST00000541377.1_Silent_p.S1162S|CLASP1_ENST00000409078.3_Silent_p.S1156S|CLASP1_ENST00000541859.1_Silent_p.S940S|CLASP1_ENST00000397587.3_Silent_p.S1163S NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1223 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CAGTGGCAGGGGAGGCAGCGC 0.577000 30 75 0 0 0.010818 0 0 KMT2D 8085 broad.mit.edu 37 12 49424543 49424543 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:49424543G>A ENST00000301067.7 - 41 13679 c.13680C>T c.(13678-13680)tcC>tcT p.S4560S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGCAGCAGGGACAGCTCCT 0.592000 41 114 0 0 0.014410 0 0 COL6A3 1293 broad.mit.edu 37 2 238280757 238280757 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:238280757C>T ENST00000295550.4 - 9 4355 c.3903G>A c.(3901-3903)cgG>cgA p.R1301R COL6A3_ENST00000353578.4_Silent_p.R1095R|COL6A3_ENST00000346358.4_Silent_p.R1101R|COL6A3_ENST00000409809.1_Silent_p.R1095R|COL6A3_ENST00000472056.1_Silent_p.R694R|COL6A3_ENST00000347401.3_Silent_p.R1100R|COL6A3_ENST00000392003.2_Silent_p.R894R|COL6A3_ENST00000392004.3_Silent_p.R1095R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1301 Nonhelical region.|VWFA 7. 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) TGGGCCTCAGCCGCTGCACCG 0.617000 40 94 0 0 0.013114 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672624 113672624 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:113672624C>T ENST00000330212.3 + 3 538 c.239C>T c.(238-240)cCt>cTt p.P80L ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P74L NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 80 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CTCCGAATTCCTTGGCTTAGG 0.458000 126 158 0 0 0.014410 0 0 MS4A2 2206 broad.mit.edu 37 11 59863121 59863121 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:59863121G>A ENST00000278888.3 + 7 829 c.727G>A c.(727-729)Gat>Aat p.D243N NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 243 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TCCTCCCATTGATTTATAAGA 0.423000 16 29 0 0 0.006122 0 0 CEP70 80321 broad.mit.edu 37 3 138248045 138248045 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:138248045T>A ENST00000264982.3 - 10 1131 c.865A>T c.(865-867)Acc>Tcc p.T289S CEP70_ENST00000489254.1_Missense_Mutation_p.T137S|CEP70_ENST00000542237.1_Missense_Mutation_p.T269S|CEP70_ENST00000484888.1_Missense_Mutation_p.T289S|CEP70_ENST00000481834.1_Missense_Mutation_p.T289S NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 289 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TCTCACCTGGTTTCCAAATCT 0.398000 86 289 0 0 0.014410 0 0 ITIH2 3698 broad.mit.edu 37 10 7786917 7786917 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:7786917G>A ENST00000358415.4 + 19 2738 c.2572G>A c.(2572-2574)Gga>Aga p.G858R ITIH2_ENST00000379587.4_Missense_Mutation_p.G847R NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 858 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TAAAGCCCACGGACTAATAGG 0.448000 35 54 0 0 0.003271 0 0 SLC28A1 9154 broad.mit.edu 37 15 85438352 85438352 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:85438352G>A ENST00000394573.1 + 6 661 c.459G>A c.(457-459)aaG>aaA p.K153K SLC28A1_ENST00000538177.1_Silent_p.K153K|SLC28A1_ENST00000537624.1_Silent_p.K153K|SLC28A1_ENST00000338602.2_Silent_p.K153K|SLC28A1_ENST00000286749.3_Silent_p.K153K|SLC28A1_ENST00000537703.1_Silent_p.K75K|SLC28A1_ENST00000537216.1_Silent_p.K153K NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 153 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCTGGTTTAAGAGGTGAGTGA 0.642000 33 77 0 0 0.010818 0 0 FAM196A 642938 broad.mit.edu 37 10 128973962 128973962 + Missense_Mutation SNP C C T rs139810222 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:128973962C>T ENST00000522781.1 - 4 1253 c.698G>A c.(697-699)gGg>gAg p.G233E FAM196A_ENST00000424811.2_Missense_Mutation_p.G233E|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 233 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTTTGGCCTCCCCCGGTCCTG 0.647000 21 17 0 0 0.003330 0 0 TTC26 79989 broad.mit.edu 37 7 138874089 138874089 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:138874089C>T ENST00000464848.1 + 18 1656 c.1576C>T c.(1576-1578)Cat>Tat p.H526Y TTC26_ENST00000478836.2_Missense_Mutation_p.H419Y|TTC26_ENST00000495038.1_Missense_Mutation_p.H395Y|TTC26_ENST00000430935.1_Missense_Mutation_p.P481L|TTC26_ENST00000343187.4_Missense_Mutation_p.H495Y A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 526 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AGAAGTGCTCCATTTACTGAG 0.378000 142 273 0 0 0.014410 0 0 CCDC103 388389 broad.mit.edu 37 17 42979994 42979994 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:42979994C>T ENST00000417826.2 + 4 633 c.538C>T c.(538-540)Cta>Tta p.L180L FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Silent_p.L180L|FAM187A_ENST00000412523.2_Intron NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 180 endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) CACCCTGAACCTAAGCCTGCT 0.647000 34 98 0 0 0.003271 0 0 EP400 57634 broad.mit.edu 37 12 132498142 132498142 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:132498142C>T ENST00000333577.4 + 19 3936 c.3827C>T c.(3826-3828)tCc>tTc p.S1276F EP400_ENST00000389562.2_Missense_Mutation_p.S1239F|EP400_ENST00000389561.2_Missense_Mutation_p.S1240F|EP400_ENST00000332482.4_Missense_Mutation_p.S1203F|EP400_ENST00000330386.6_Missense_Mutation_p.S1240F Q96L91 EP400_HUMAN E1A binding protein p400 1276 Interactions with RUVBL1 and RUVBL2. 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) TACCTGAGCTCCCCTCTGAGG 0.537000 34 100 0 0 0.003271 0 0 PREX2 80243 broad.mit.edu 37 8 69030803 69030803 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:69030803G>A ENST00000288368.4 + 27 3622 c.3345G>A c.(3343-3345)agG>agA p.R1115R NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1115 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ACAGCAATAGGAATTCCATCG 0.463000 49 90 0 0 0.014410 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564531 66564531 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:66564531G>A ENST00000360242.5 + 6 1246 c.1129G>A c.(1129-1131)Gag>Aag p.E377K CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E377K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E377K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E377K NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 377 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GCAGGGACTGGAGAGAGAAAA 0.398000 26 46 0 0 0.004656 0 0 ADAM7 8756 broad.mit.edu 37 8 24358371 24358371 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:24358371C>T ENST00000175238.6 + 19 2154 c.2071C>T c.(2071-2073)Cgt>Tgt p.R691C ADAM7_ENST00000380789.1_Missense_Mutation_p.R691C|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.R463C|RP11-561E1.1_ENST00000519364.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 691 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R691C(1) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ACTATTAGTTCGTTACCGAAA 0.373000 26 62 0 0 0.005443 0 0 ZNF177 7730 broad.mit.edu 37 19 9492219 9492219 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9492219C>T ENST00000541595.2 + 12 1361 c.732C>T c.(730-732)tcC>tcT p.S244S ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Silent_p.S244S|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000589262.1_Silent_p.S404S|ZNF177_ENST00000343499.4_Silent_p.S244S|ZNF177_ENST00000434737.2_Silent_p.S404S NM_001172650.2 NP_001166121.1 Q13360 ZN177_HUMAN zinc finger protein 177 244 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 GTGGAAAGTCCTTCAGCACAG 0.453000 43 122 0 0 0.008740 0 0 INSL6 11172 broad.mit.edu 37 9 5185587 5185587 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:5185587G>A ENST00000381641.3 - 1 81 c.16C>T c.(16-18)Cgc>Tgc p.R6C NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 6 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) AGGGACAAGCGGAGGAGCCGC 0.647000 17 21 0 0 0.004007 0 0 SSPO 23145 broad.mit.edu 37 7 149521696 149521696 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:149521696C>T ENST00000378016.2 + 0 13775 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGACTGGAGCCCCTCACCTC 0.697000 17 29 0 0 0.004990 0 0 C4orf40 401137 broad.mit.edu 37 4 71024317 71024317 + Silent SNP G G A rs148239542 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:71024317G>A ENST00000344526.5 + 3 537 c.348G>A c.(346-348)agG>agA p.R116R C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Silent_p.R116R NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 116 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTCCTTCAAGGTTTTTTTCAG 0.547000 119 230 0 0 0.014410 0 0 PROKR2 128674 broad.mit.edu 37 20 5294770 5294770 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:5294770C>T ENST00000546004.1 - 2 492 c.246G>A c.(244-246)aaG>aaA p.K82K PROKR2_ENST00000217270.3_Silent_p.K82K Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 82 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 TGCGCAACTTCTTATAGCGGG 0.547000 HNSCC(71;0.22) 49 126 0 0 0.014410 0 0 PLIN5 440503 broad.mit.edu 37 19 4534036 4534036 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:4534036C>T ENST00000586020.1 - 2 157 c.104G>A c.(103-105)aGg>aAg p.R35K PLIN5_ENST00000592610.1_Silent_p.Q17Q|PLIN5_ENST00000586133.1_Silent_p.Q17Q|PLIN5_ENST00000381848.3_Silent_p.Q17Q CCTGCTGGTCCTGCTCCCACA 0.607000 8 31 0 0 0.004482 0 0 KPNA6 23633 broad.mit.edu 37 1 32628862 32628862 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:32628862C>A ENST00000373625.3 + 10 1031 c.938C>A c.(937-939)cCt>cAt p.P313H KPNA6_ENST00000537234.1_Missense_Mutation_p.P310H|KPNA6_ENST00000545542.1_Missense_Mutation_p.P318H NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 313 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) GTGGCTTCTCCTGCCCTGAGA 0.517000 8 38 0.00829132 0.00839916 0.008291 1 0 CHDC2 286464 broad.mit.edu 37 X 36116914 36116914 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:36116914C>T ENST00000378660.1 + 6 834 c.646C>T c.(646-648)Caa>Taa p.Q216* CHDC2_ENST00000313548.4_Nonsense_Mutation_p.Q216* calponin homology domain containing 2 TTTTAGTGCTCAAGGAGGATG 0.269000 4 5 0 0 0.009096 0 0 SLC6A13 6540 broad.mit.edu 37 12 344366 344366 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:344366G>A ENST00000343164.4 - 7 773 c.721C>T c.(721-723)Cct>Tct p.P241S SLC6A13_ENST00000445055.2_Missense_Mutation_p.P149S NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 241 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ATGAGGTAAGGAAATGTGGCC 0.562000 15 53 0 0 0.004007 0 0 ZNF786 136051 broad.mit.edu 37 7 148768478 148768478 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:148768478G>A ENST00000316286.9 - 3 1400 c.1128C>T c.(1126-1128)ttC>ttT p.F376F ZNF786_ENST00000491431.1_Silent_p.F462F|ZNF786_ENST00000451334.3_Silent_p.F425F Q8N393 ZN786_HUMAN zinc finger protein 786 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCCTCTGACGGAAGTTCCTGC 0.612000 12 46 0 0 0.013537 0 0 COBL 23242 broad.mit.edu 37 7 51097060 51097060 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:51097060G>A ENST00000395542.2 - 12 2163 c.1979C>T c.(1978-1980)tCc>tTc p.S660F COBL_ENST00000265136.7_Missense_Mutation_p.S578F O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 578 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGGCGCCAGGGAGTCTCTCCT 0.552000 18 64 0 0 0.006122 0 0 VCP 7415 broad.mit.edu 37 9 35066696 35066696 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:35066696C>T ENST00000358901.6 - 4 1316 c.421G>A c.(421-423)Gaa>Aaa p.E141K NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 141 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CGATACGCTTCCAGGAAGTAC 0.433000 16 66 0 0 0.004007 0 0 ERH 2079 broad.mit.edu 37 14 69847312 69847312 + Nonsense_Mutation SNP C C T rs11545983 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:69847312C>T ENST00000557016.1 - 4 651 c.258G>A c.(256-258)tgG>tgA p.W86* ERH_ENST00000216520.6_5'UTR NM_004450.2 NP_004441.1 P84090 ERH_HUMAN enhancer of rudimentary homolog (Drosophila) 86 cell cycle|pyrimidine nucleoside metabolic process midbody protein binding all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507) TCTCTTTAATCCAGTCTTTGT 0.502000 30 95 0 0 0.003271 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261704 39261704 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39261704G>A ENST00000391415.1 + 1 121 c.64G>A c.(64-66)Gag>Aag p.E22K NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 22 keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CCTCTGTCAGGAGACCTGCTG 0.647000 21 62 0 0 0.012319 0 0 LAMA2 3908 broad.mit.edu 37 6 129618834 129618834 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:129618834G>A ENST00000421865.2 + 21 2910 c.2861G>A c.(2860-2862)gGg>gAg p.G954E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 954 Laminin EGF-like 9. 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 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) TGCCAGGCTGGGACCTTTGGC 0.448000 11 28 0 0 0.001855 0 0 SEC23IP 11196 broad.mit.edu 37 10 121658152 121658152 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:121658152C>T ENST00000369075.3 + 2 449 c.377C>T c.(376-378)tCc>tTc p.S126F SEC23IP_ENST00000543134.1_Intron NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 126 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) ACAACTGGATCCCAAGATGTC 0.468000 81 100 0 0 0.014410 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999403 46999403 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:46999403G>A ENST00000374314.4 + 1 1478 c.523G>A c.(523-525)Gac>Aac p.D175N GPRIN2_ENST00000374317.1_Missense_Mutation_p.D175N O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 175 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CCTGGAAAGGGACCTGGCTCC 0.637000 16 52 0 0 0.008871 0 0 UGGT1 56886 broad.mit.edu 37 2 128918777 128918777 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:128918777C>T ENST00000375990.3 + 25 3091 c.2688C>T c.(2686-2688)atC>atT p.I896I UGGT1_ENST00000259253.6_Silent_p.I920I Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 920 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TCGAAAATATCATCTTAAAAA 0.423000 48 119 0 0 0.013114 0 0 BMP8B 656 broad.mit.edu 37 1 40229398 40229398 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:40229398C>T ENST00000372827.3 - 5 1309 c.934G>A c.(934-936)Gac>Aac p.D312N BMP8B_ENST00000397360.2_Missense_Mutation_p.D337N|PPIE_ENST00000356511.2_Missense_Mutation_p.S292F|PPIE_ENST00000372830.1_3'UTR NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 312 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGCCGAGGTCCTGGAAGCTG 0.557000 9 183 0 0 0.006122 0 0 ABO 28 broad.mit.edu 37 9 136136727 136136727 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:136136727C>T ENST00000453660.2 - 0 160 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) TCACCAGAACCCCCGTTCCAG 0.607000 7 10 0 0 0.001984 0 0 ARPP21 10777 broad.mit.edu 37 3 35729253 35729253 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:35729253C>T ENST00000187397.4 + 6 740 c.284C>T c.(283-285)tCc>tTc p.S95F ARPP21_ENST00000458225.1_Missense_Mutation_p.S95F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S95F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S95F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S95F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 95 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 TTACAGCTTTCCAGTTTTTCC 0.358000 30 40 0 0 0.012213 0 0 PCNXL3 399909 broad.mit.edu 37 11 65392945 65392945 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65392945C>T ENST00000355703.3 + 18 3638 c.3099C>T c.(3097-3099)ccC>ccT p.P1033P NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1033 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GGGCCGAGCCCCCGGACCCCT 0.697000 30 53 0 0 0.003755 0 0 SLC6A3 6531 broad.mit.edu 37 5 1443052 1443052 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:1443052G>A ENST00000270349.9 - 2 388 c.261C>T c.(259-261)ccC>ccT p.P87P SLC6A3_ENST00000453492.2_Silent_p.P87P NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 87 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) AGCACAGGTAGGGGAACCGCC 0.632000 53 152 0 0 0.014410 0 0 SRRM4 84530 broad.mit.edu 37 12 119419818 119419818 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:119419818G>A ENST00000267260.4 + 1 519 c.131_splice c.e1+1 p.R44_splice NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 44 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCGCTGCCAAGGTAATGATCT 0.622000 6 16 0 0 0.004482 0 0 ELMO1 9844 broad.mit.edu 37 7 37283972 37283972 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:37283972G>A ENST00000310758.4 - 7 1085 c.438C>T c.(436-438)atC>atT p.I146I ELMO1_ENST00000448602.1_Silent_p.I146I|ELMO1_ENST00000442504.1_Silent_p.I146I NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 146 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 AAGGCTTCATGATCTTCTGCA 0.348000 6 83 0 0 0.001984 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594835 140594835 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140594835G>A ENST00000341948.4 + 1 1327 c.1140G>A c.(1138-1140)ggG>ggA p.G380G NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 380 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAAAATGGGAAAATTAGTT 0.448000 121 145 0 0 0.014410 0 0 RPRM 56475 broad.mit.edu 37 2 154334761 154334761 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:154334761C>T ENST00000325926.3 - 1 561 c.319G>A c.(319-321)Ggg>Agg p.G107R AC012501.2_ENST00000424322.1_RNA NM_019845.2 NP_062819.1 Q9NS64 RPRM_HUMAN reprimo, TP53 dependent G2 arrest mediator candidate 107 cell cycle arrest cytoplasm|integral to membrane protein binding large_intestine(2)|lung(1)|prostate(1) 4 CAGTAGGGCCCCACGACCACC 0.647000 11 26 0 0 0.010729 0 0 GPR108 56927 broad.mit.edu 37 19 6732083 6732083 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:6732083G>A ENST00000264080.7 - 13 1235 c.1209C>T c.(1207-1209)ttC>ttT p.F403F GPR108_ENST00000430424.4_Silent_p.F161F NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 403 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GGTCCACCAGGAACAAAATCT 0.642000 33 59 0 0 0.013726 0 0 MCHR2 84539 broad.mit.edu 37 6 100369020 100369020 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:100369020C>T ENST00000281806.2 - 6 1133 c.819G>A c.(817-819)gtG>gtA p.V273V MCHR2_ENST00000369212.1_Silent_p.V273V|MCHR2_ENST00000445970.1_Silent_p.V273V NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 273 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) TCTGTAAGTTCACCAGTTGTA 0.468000 49 60 0 0 0.014410 0 0 MYH2 4620 broad.mit.edu 37 17 10429022 10429022 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10429022C>T ENST00000245503.5 - 31 4743 c.4359G>A c.(4357-4359)agG>agA p.R1453R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1453R|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1453 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 TATCGAAGTTCCTTTGCTTTT 0.483000 45 62 0 0 0.013114 0 0 RGS7 6000 broad.mit.edu 37 1 241094032 241094032 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:241094032C>T ENST00000366565.1 - 6 751 c.370G>A c.(370-372)Gaa>Aaa p.E124K RGS7_ENST00000407727.1_Missense_Mutation_p.E124K|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.E98K|RGS7_ENST00000446183.2_Missense_Mutation_p.E40K|RGS7_ENST00000366564.1_Missense_Mutation_p.E124K|RGS7_ENST00000366563.1_Missense_Mutation_p.E124K|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.E124K NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 124 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) TCTGTGTTTTCCGGCTCCCAA 0.383000 136 248 0 0 0.014410 0 0 CYP46A1 10858 broad.mit.edu 37 14 100188396 100188396 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:100188396C>T ENST00000261835.3 + 12 1273 c.1169C>T c.(1168-1170)cCg>cTg p.P390L CYP46A1_ENST00000423126.2_Missense_Mutation_p.P293L|CYP46A1_ENST00000554176.1_Intron NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 390 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GGCAACACCCCGCTCTTGGTG 0.637000 33 78 0 0 0.013726 0 0 MUC16 94025 broad.mit.edu 37 19 9047708 9047708 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9047708G>A ENST00000397910.4 - 5 34126 c.33923C>T c.(33922-33924)tCa>tTa p.S11308L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11310 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 AATAGTTGTTGAAATGGCTGA 0.488000 21 56 0 0 0.010504 0 0 YTHDC1 91746 broad.mit.edu 37 4 69182130 69182130 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:69182130G>A ENST00000344157.4 - 16 2196 c.1861C>T c.(1861-1863)Cct>Tct p.P621S YTHDC1_ENST00000579690.1_Missense_Mutation_p.P629S|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P603S NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 621 Pro-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TGATAGTAAGGATGGTGTGGA 0.443000 39 103 0 0 0.005524 0 0 BCL7C 9274 broad.mit.edu 37 16 30904032 30904032 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:30904032G>A ENST00000380317.4 - 4 674 c.317C>T c.(316-318)tCc>tTc p.S106F BCL7C_ENST00000215115.4_Missense_Mutation_p.S106F|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA Q8WUZ0 BCL7C_HUMAN B-cell CLL/lymphoma 7C 106 apoptosis p.S106F(1) large_intestine(1)|lung(3)|prostate(1)|skin(1) 6 Colorectal(24;0.198) CTTTTGCAGGGAACCTTCCGA 0.627000 32 125 0 0 0.005524 0 0 TMEM127 55654 broad.mit.edu 37 2 96920668 96920668 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:96920668G>A ENST00000258439.2 - 3 568 c.312C>T c.(310-312)atC>atT p.I104I TMEM127_ENST00000435268.1_Silent_p.I20I|TMEM127_ENST00000432959.1_Silent_p.I104I NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 104 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GACTACACAGGATGCCCAGGA 0.542000 53 136 0 0 0.014410 0 0 OR4E2 26686 broad.mit.edu 37 14 22134220 22134220 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22134220C>T ENST00000408935.1 + 1 924 c.924C>T c.(922-924)ttC>ttT p.F308F NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) AAGTTTTTTTCACGAAATCAT 0.393000 7 21 0 0 0.001984 0 0 COL6A3 1293 broad.mit.edu 37 2 238266502 238266502 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:238266502C>T ENST00000295550.4 - 22 6947 c.6495G>A c.(6493-6495)caG>caA p.Q2165Q COL6A3_ENST00000353578.4_Silent_p.Q1959Q|COL6A3_ENST00000346358.4_Silent_p.Q1965Q|COL6A3_ENST00000409809.1_Silent_p.Q1959Q|COL6A3_ENST00000472056.1_Silent_p.Q1558Q|COL6A3_ENST00000347401.3_Silent_p.Q1964Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2165 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) GTCCTCTCTCCTGGCTGTCTT 0.542000 133 354 0 0 0.014410 0 0 TNXB 7148 broad.mit.edu 37 6 32035616 32035616 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32035616G>A ENST00000375244.3 - 18 6567 c.6366C>T c.(6364-6366)ttC>ttT p.F2122F TNXB_ENST00000375247.2_Silent_p.F2122F P22105 TENX_HUMAN tenascin XB 2194 Fibronectin type-III 13. 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 TGAAGGAGTCGAAGCGGCCCT 0.692000 132 371 0 0 0.014410 0 0 ASS1 445 broad.mit.edu 37 9 133333811 133333811 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:133333811G>A ENST00000372394.1 + 5 679 c.198G>A c.(196-198)agG>agA p.R66R ASS1_ENST00000352480.5_Silent_p.R66R|ASS1_ENST00000372393.3_Silent_p.R66R P00966 ASSY_HUMAN argininosuccinate synthase 1 66 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) ATGTCAGCAGGGAGTTTGTGG 0.607000 32 103 0 0 0.012213 0 0 SMYD1 150572 broad.mit.edu 37 2 88410017 88410017 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:88410017C>T ENST00000419482.2 + 10 1544 c.1459C>T c.(1459-1461)Cac>Tac p.H487Y SMYD1_ENST00000444564.2_Missense_Mutation_p.H474Y|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 AGCTCTGTTCCACAAGAAGCA 0.592000 5 11 0 0 0.000602 0 0 OR6C1 390321 broad.mit.edu 37 12 55714733 55714733 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:55714733C>T ENST00000379668.2 + 1 388 c.350C>T c.(349-351)tCc>tTc p.S117F NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 GCTGCCATGTCCTATGACCGC 0.408000 11 26 0 0 0.008291 0 0 ZNF462 58499 broad.mit.edu 37 9 109734356 109734356 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:109734356G>A ENST00000277225.5 + 8 6787 c.6498G>A c.(6496-6498)agG>agA p.R2166R ZNF462_ENST00000441147.2_Silent_p.R1072R|ZNF462_ENST00000457913.1_Silent_p.R2226R|ZNF462_ENST00000542028.1_Silent_p.R123R Q96JM2 ZN462_HUMAN zinc finger protein 462 2166 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 CCCTGGCAAGGAACAACAGCC 0.527000 24 62 0 0 0.003330 0 0 PIPOX 51268 broad.mit.edu 37 17 27380543 27380543 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:27380543G>A ENST00000323372.4 + 4 916 c.590G>A c.(589-591)aGc>aAc p.S197N PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 197 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CAAGCTAAGAGCTTGGTCATC 0.572000 42 130 0 0 0.011902 0 0 KIF15 56992 broad.mit.edu 37 3 44881943 44881943 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:44881943C>T ENST00000326047.4 + 28 3564 c.3415C>T c.(3415-3417)Ccc>Tcc p.P1139S KIF15_ENST00000425755.1_Missense_Mutation_p.P774S NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 1139 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TGCTGAGGATCCCCAGGTACT 0.338000 72 91 0 0 0.014410 0 0 TMEM132B 114795 broad.mit.edu 37 12 125900131 125900131 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:125900131C>T ENST00000299308.3 + 3 1007 c.999C>T c.(997-999)gaC>gaT p.D333D NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 333 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCAGTGAGGACCAATGGGCAG 0.502000 30 97 0 0 0.009535 0 0 C1orf168 199920 broad.mit.edu 37 1 57233561 57233561 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57233561G>A ENST00000343433.6 - 5 1084 c.1004C>T c.(1003-1005)tCa>tTa p.S335L C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 335 p.S335L(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TCTCAGATATGAAATTGTTGC 0.353000 27 86 0 0 0.008361 0 0 GDF2 2658 broad.mit.edu 37 10 48413836 48413836 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:48413836C>T ENST00000249598.1 - 2 1191 c.1032G>A c.(1030-1032)tgG>tgA p.W344* NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 344 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 GTGCAATGATCCAGCTGTCCC 0.587000 40 79 0 0 0.008740 0 0 DROSHA 29102 broad.mit.edu 37 5 31515325 31515325 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:31515325G>A ENST00000511367.2 - 7 1304 c.1058_splice c.e7-1 p.R354_splice DROSHA_ENST00000344624.3_Splice_Site_p.R354_splice|DROSHA_ENST00000513349.1_Splice_Site_p.R317_splice|DROSHA_ENST00000442743.1_Splice_Site_p.R317_splice NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 354 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 CTTGGGGAGCGACTTCAAAAG 0.393000 32 76 0 0 0.010818 0 0 KATNB1 10300 broad.mit.edu 37 16 57787413 57787413 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:57787413C>T ENST00000379661.3 + 12 1551 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 387 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CGAGATCTTCCAGCCCAAGAA 0.677000 21 76 0 0 0.014323 0 0 ETNK1 55500 broad.mit.edu 37 12 22812064 22812064 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:22812064T>G ENST00000266517.4 + 3 889 c.800T>G c.(799-801)tTt>tGt p.F267C NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 267 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCCACAGGATTTGCAGATGAA 0.328000 10 51 0 0 0.008291 0 0 KRT2 3849 broad.mit.edu 37 12 53038983 53038983 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:53038983C>T ENST00000309680.3 - 9 1761 c.1740G>A c.(1738-1740)aaG>aaA p.K580K NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 580 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TGGACCCTCCCTTAGAGCCAC 0.577000 131 336 0 0 0.014410 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153275062 153275062 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:153275062C>T ENST00000290722.1 - 5 603 c.551G>A c.(550-552)cGa>cAa p.R184Q NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 184 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAGCAGATCGTTTGATGAT 0.468000 30 130 0 0 0.008361 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136319683 136319683 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:136319683G>A ENST00000371929.3 + 24 3635 c.3191G>A c.(3190-3192)aGt>aAt p.S1064N ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.S1033N|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.S1064N NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1064 TSP type-1 7. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCCGAGGCCAGTGTCCCCTGT 0.677000 21 51 0 0 0.002780 0 0 CHST2 9435 broad.mit.edu 37 3 142840669 142840669 + Silent SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:142840669G>T ENST00000309575.3 + 2 2395 c.1011G>T c.(1009-1011)gtG>gtT p.V337V NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 337 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CCCGCGCGGTGGCGAGTTCAC 0.682000 9 31 5.4927e-09 5.58892e-09 0.004482 1 0 RPL34 6164 broad.mit.edu 37 4 109546299 109546299 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:109546299C>T ENST00000394668.2 + 5 351 c.285C>T c.(283-285)ttC>ttT p.F95F RPL34_ENST00000502534.1_Silent_p.F95F|RPL34_ENST00000394667.3_Silent_p.F95F|RPL34_ENST00000506397.1_Silent_p.F95F|RPL34_ENST00000394665.1_Silent_p.F95F NM_033625.2 NP_296374.1 P49207 RL34_HUMAN ribosomal protein L34 95 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome kidney(2)|lung(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000286) AGCGTGCTTTCCTTATCGAGG 0.318000 14 26 0 0 0.003163 0 0 XKR6 286046 broad.mit.edu 37 8 10755610 10755610 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:10755610C>T ENST00000416569.2 - 3 1804 c.1778G>A c.(1777-1779)cGa>cAa p.R593Q XKR6_ENST00000304437.2_Missense_Mutation_p.R314Q NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 593 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) AGCTGGGTATCGCTTTCTTGG 0.517000 32 67 0 0 0.010818 0 0 ZNF516 9658 broad.mit.edu 37 18 74091180 74091180 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:74091180G>A ENST00000443185.2 - 4 3207 c.2890C>T c.(2890-2892)Ccc>Tcc p.P964S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 964 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) TTATTTGTGGGGGCAAAGCCA 0.657000 35 65 0 0 0.006999 0 0 ZNF831 128611 broad.mit.edu 37 20 57829649 57829649 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:57829649C>T ENST00000371030.2 + 5 4885 c.4885C>T c.(4885-4887)Cct>Tct p.P1629S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1629 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) TTCTGTGGTTCCTTCTAAGCC 0.478000 17 51 0 0 0.004007 0 0 EYA1 2138 broad.mit.edu 37 8 72111625 72111625 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:72111625G>A ENST00000340726.3 - 18 2368 c.1729C>T c.(1729-1731)Cac>Tac p.H577Y EYA1_ENST00000303824.7_Missense_Mutation_p.H571Y|EYA1_ENST00000419131.1_Missense_Mutation_p.H542Y|EYA1_ENST00000388741.2_Missense_Mutation_p.H543Y|EYA1_ENST00000388742.4_Missense_Mutation_p.H577Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000388743.2_Missense_Mutation_p.H576Y|EYA1_ENST00000388740.3_Missense_Mutation_p.H544Y NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 577 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGGTCCGAGTGGCTGGAGATC 0.587000 3 22 0 0 0.009096 0 0 FMN2 56776 broad.mit.edu 37 1 240256893 240256893 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:240256893G>A ENST00000319653.9 + 1 1714 c.1484G>A c.(1483-1485)cGg>cAg p.R495Q NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 495 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) CGCACGCCCCGGGTGGGAGGC 0.781000 11 12 0 0 0.010729 0 0 CRB2 286204 broad.mit.edu 37 9 126132962 126132962 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:126132962C>T ENST00000373631.3 + 7 1631 c.1630C>T c.(1630-1632)Ctc>Ttc p.L544F CRB2_ENST00000359999.3_Missense_Mutation_p.L544F|CRB2_ENST00000373629.2_Missense_Mutation_p.L212F NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 544 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 CCCTGCCCGGCTCTGTGTGGC 0.667000 55 131 0 0 0.014410 0 0 CSMD1 64478 broad.mit.edu 37 8 3224691 3224691 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:3224691G>A ENST00000520002.1 - 21 3536 c.2981C>T c.(2980-2982)tCc>tTc p.S994F CSMD1_ENST00000537824.1_Missense_Mutation_p.S993F|CSMD1_ENST00000539096.1_Missense_Mutation_p.S993F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S993F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S994F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S994F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S994F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 994 CUB 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AACGGGCTCGGAAAAACTTCC 0.498000 8 13 0 0 0.003080 0 0 PHKG2 5261 broad.mit.edu 37 16 30762461 30762461 + Nonsense_Mutation SNP C C T rs137853590 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:30762461C>T ENST00000563588.1 + 3 369 c.130C>T c.(130-132)Cga>Tga p.R44* PHKG2_ENST00000328273.7_Nonsense_Mutation_p.R44*|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Nonsense_Mutation_p.R44* NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 44 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) TTGTGTTCATCGAGCTACTGG 0.592000 23 86 0 0 0.004656 0 0 STXBP1 6812 broad.mit.edu 37 9 130423393 130423393 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:130423393C>T ENST00000373302.3 + 6 477 c.338C>T c.(337-339)gCc>gTc p.A113V STXBP1_ENST00000373299.1_Missense_Mutation_p.A113V NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 113 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TGTCCAGATGCCCTGTTTAAT 0.438000 34 97 0 0 0.004878 0 0 LRP10 26020 broad.mit.edu 37 14 23346485 23346485 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23346485C>T ENST00000359591.4 + 7 2582 c.1891C>T c.(1891-1893)Ccc>Tcc p.P631S LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 631 Pro-rich. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GTCTCCAGCCCCCACTACTGT 0.672000 57 160 0 0 0.014410 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10912037 10912037 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:10912037C>T ENST00000381661.3 + 7 652 c.543C>T c.(541-543)ctC>ctT p.L181L ATP6V1C2_ENST00000272238.4_Silent_p.L181L NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 181 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) CTGAATATCTCGTCACACTTC 0.552000 33 263 0 0 0.003271 0 0 OR2D2 120776 broad.mit.edu 37 11 6913459 6913459 + Silent SNP G G A rs149994988 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6913459G>A ENST00000299459.2 - 1 371 c.273C>T c.(271-273)gtC>gtT p.V91V NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 91 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) TGAATGCAATGACCTTCTTTC 0.463000 5 37 0 0 0.000602 0 0 NFIC 4782 broad.mit.edu 37 19 3381895 3381895 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:3381895G>A ENST00000589123.1 + 2 309 c.189G>A c.(187-189)tgG>tgA p.W63* NFIC_ENST00000395111.3_Nonsense_Mutation_p.W63*|NFIC_ENST00000590282.1_Nonsense_Mutation_p.W72*|NFIC_ENST00000443272.2_Nonsense_Mutation_p.W72*|NFIC_ENST00000586919.1_Nonsense_Mutation_p.W63*|NFIC_ENST00000341919.3_Nonsense_Mutation_p.W72*|NFIC_ENST00000346156.5_Nonsense_Mutation_p.W63* NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 72 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AGCAGAAGTGGGCGTCGCGGC 0.652000 66 157 0 0 0.014410 0 0 MYOM2 9172 broad.mit.edu 37 8 2037960 2037960 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:2037960G>A ENST00000262113.4 + 15 1915 c.1774G>A c.(1774-1776)Ggc>Agc p.G592S MYOM2_ENST00000523438.1_Missense_Mutation_p.G17S NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 592 Fibronectin type-III 2. 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) AAACCGGCATGGCCTGAGCGA 0.572000 29 70 0 0 0.008361 0 0 CCDC181 57821 broad.mit.edu 37 1 169388305 169388305 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:169388305G>A ENST00000545005.1 - 5 1668 c.1161C>T c.(1159-1161)gtC>gtT p.V387V CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.V387V|CCDC181_ENST00000367806.3_Silent_p.V387V coiled-coil domain containing 181 TCATTTCTAAGACCTGCTCTC 0.343000 23 93 0 0 0.003330 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45459056 45459056 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:45459056C>T ENST00000548424.1 + 0 448 AATTGGAGTTCGTTTCCTTCC 0.443000 12 32 0 0 0.010729 0 0 LYST 1130 broad.mit.edu 37 1 235866213 235866213 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:235866213A>G ENST00000389794.3 - 45 10382 c.10208T>C c.(10207-10209)aTg>aCg p.M3403T LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.M3403T Q99698 LYST_HUMAN lysosomal trafficking regulator 3403 BEACH. 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) GGTTTTTATCATGGTTTCTAG 0.478000 65 231 0 0 0.014410 0 0 PARP14 54625 broad.mit.edu 37 3 122404132 122404132 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:122404132C>T ENST00000474629.2 + 2 554 c.288C>T c.(286-288)atC>atT p.I96I NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAGATGAAATCGATCATGTCT 0.413000 22 76 0 0 0.002780 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144075882 144075882 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:144075882C>T ENST00000056217.5 + 14 4733 c.4559C>T c.(4558-4560)gCc>gTc p.A1520V ARHGEF5_ENST00000471847.2_Missense_Mutation_p.A442V NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1520 SH3. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TGCCTTCGAGCCTACAAGCCC 0.562000 88 234 0 0 0.014410 0 0 MYO3A 53904 broad.mit.edu 37 10 26462592 26462592 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:26462592G>A ENST00000265944.5 + 30 3565 c.3398_splice c.e30-1 p.R1133_splice MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1133 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 TTTTACACAGGGAATCTTTCG 0.338000 13 14 0 0 0.002450 0 0 MSR1 4481 broad.mit.edu 37 8 15967683 15967683 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:15967683C>T ENST00000350896.3 - 9 1275 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K MSR1_ENST00000445506.2_Missense_Mutation_p.E441K|MSR1_ENST00000262101.5_Missense_Mutation_p.E423K|MSR1_ENST00000355282.2_Missense_Mutation_p.E360K NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 423 SRCR. 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) ATAGATGATTCTCTCCCAAAA 0.373000 16 75 0 0 0.004990 0 0 DCDC2 51473 broad.mit.edu 37 6 24291289 24291289 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:24291289C>T ENST00000378454.3 - 5 876 c.575G>A c.(574-576)gGa>gAa p.G192E NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 192 Doublecortin 2. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) AACAAGTTTTCCTTCTAAAGT 0.348000 27 80 0 0 0.009535 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990451 15990451 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15990451C>T ENST00000221700.5 - 11 1372 c.1277G>A c.(1276-1278)gGa>gAa p.G426E CYP4F2_ENST00000592328.1_Missense_Mutation_p.G426E NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 426 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTGATGGGTTCCGAAAACACT 0.587000 84 424 0 0 0.014410 0 0 SCN9A 6335 broad.mit.edu 37 2 167055481 167055481 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:167055481C>T ENST00000375387.4 - 27 6011 c.5671G>A c.(5671-5673)Gat>Aat p.D1891N AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1879N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1890N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1891N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1890 IQ. 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) GCAGACACATCCTCTTGTTTC 0.398000 82 205 0 0 0.014410 0 0 SQRDL 58472 broad.mit.edu 37 15 45974710 45974710 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:45974710C>T ENST00000260324.7 + 7 1285 c.899C>T c.(898-900)cCa>cTa p.P300L SQRDL_ENST00000568606.1_Missense_Mutation_p.P300L NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 300 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) CCAATGAGCCCACCAGATGTC 0.458000 26 61 0 0 0.005443 0 0 CDH18 1016 broad.mit.edu 37 5 19591256 19591256 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:19591256C>T ENST00000507958.1 - 9 1899 c.909G>A c.(907-909)atG>atA p.M303I CDH18_ENST00000382275.1_Missense_Mutation_p.M303I|CDH18_ENST00000502796.1_Missense_Mutation_p.M303I|CDH18_ENST00000506372.1_Missense_Mutation_p.M303I|CDH18_ENST00000274170.4_Missense_Mutation_p.M303I|CDH18_ENST00000511273.1_Missense_Mutation_p.M303I Q13634 CAD18_HUMAN cadherin 18, type 2 303 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGGAGTAGGTCATGTCAGCAT 0.413000 15 61 0 0 0.006122 0 0 OR2A12 346525 broad.mit.edu 37 7 143792847 143792847 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:143792847C>T ENST00000408949.2 + 1 707 c.647C>T c.(646-648)tCc>tTc p.S216F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GTGCTGGTCTCCTACTTGCAC 0.582000 76 233 0 0 0.014410 0 0 ZNF536 9745 broad.mit.edu 37 19 30936285 30936285 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:30936285G>A ENST00000355537.3 + 2 1963 c.1816G>A c.(1816-1818)Gat>Aat p.D606N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 606 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) AAGCAGTCGGGATTTTTTGTC 0.552000 67 105 0 0 0.014410 0 0 PTGER4 5734 broad.mit.edu 37 5 40681212 40681212 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:40681212C>T ENST00000302472.3 + 2 1141 c.117C>T c.(115-117)atC>atT p.I39I PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 39 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TGGTGGCCATCGTGGTGCTGT 0.607000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 120 0 0 0.014410 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464339 5464339 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:5464339C>T ENST00000296564.7 + 13 5114 c.4892C>T c.(4891-4893)cCt>cTt p.P1631L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1631 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GTGGGGCCTCCTTTGCCGCCT 0.498000 40 138 0 0 0.005524 0 0 FAM168B 130074 broad.mit.edu 37 2 131829478 131829478 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:131829478G>A ENST00000409185.1 - 3 211 c.104C>T c.(103-105)cCt>cTt p.P35L FAM168B_ENST00000389915.3_Missense_Mutation_p.P35L NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 35 endometrium(3)|lung(2) 5 AGAATAGGCAGGAGCTGCTGC 0.463000 39 113 0 0 0.006999 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23058222 23058222 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:23058222G>A ENST00000221132.3 - 5 745 c.681C>T c.(679-681)atC>atT p.I227I NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 227 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) GGACACACTCGATGTCACTCC 0.587000 41 175 0 0 0.009718 0 0 TAF1L 138474 broad.mit.edu 37 9 32634966 32634966 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:32634966A>G ENST00000242310.4 - 1 701 c.612T>C c.(610-612)agT>agC p.S204S 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 204 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) AATCAGAGTAACTACTGAAAT 0.468000 50 114 0 0 0.014410 0 0 C14orf39 317761 broad.mit.edu 37 14 60903642 60903642 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:60903642C>T ENST00000321731.3 - 18 1844 c.1685G>A c.(1684-1686)gGt>gAt p.G562D NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 562 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TGAATTTTGACCCTGTCCAAA 0.318000 74 176 0 0 0.014410 0 0 NEFH 4744 broad.mit.edu 37 22 29881755 29881755 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:29881755G>A ENST00000310624.6 + 3 1160 c.1127G>A c.(1126-1128)tGg>tAg p.W376* NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 376 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AACACCAAGTGGGAGATGGCC 0.572000 16 71 0 0 0.003163 0 0 PLEK 5341 broad.mit.edu 37 2 68607869 68607869 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:68607869C>T ENST00000234313.7 + 3 392 c.213C>T c.(211-213)atC>atT p.I71I NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 71 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) TGTTTAAGATCACTACGACCA 0.473000 51 124 0 0 0.014410 0 0 IFNAR2 3455 broad.mit.edu 37 21 34635620 34635620 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:34635620G>A ENST00000342136.4 + 9 1689 c.1363G>A c.(1363-1365)Gag>Aag p.E455K IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.E455K P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 455 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TCATCTGGAAGAGATGGTTGA 0.498000 142 381 0 0 0.014410 0 0 KAL1 3730 broad.mit.edu 37 X 8565122 8565122 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:8565122G>A ENST00000262648.3 - 4 643 c.494C>T c.(493-495)tCg>tTg p.S165L NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 165 WAP. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 ACACCCATTCGAACAACATTT 0.522000 27 29 0 0 0.010818 0 0 KCNA10 3744 broad.mit.edu 37 1 111061260 111061260 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:111061260C>T ENST00000369771.2 - 1 537 c.150G>A c.(148-150)aaG>aaA p.K50K NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 50 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGATGAGGATCTTCCCGTTGG 0.557000 25 144 0 0 0.007291 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735717 55735717 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:55735717C>T ENST00000312345.2 - 1 273 c.223G>A c.(223-225)Gac>Aac p.D75N NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) GTCCAAATGTCCATGAGCATT 0.383000 41 69 0 0 0.007835 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170360 107170360 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:107170360C>T ENST00000390633.2 - 0 68 CCTCCAGGTCCAGTCCATGGT 0.483000 23 71 0 0 0.003330 0 0 EIF4G3 8672 broad.mit.edu 37 1 21295998 21295998 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:21295998C>T ENST00000602326.1 - 10 1119 c.536G>A c.(535-537)gGa>gAa p.G179E EIF4G3_ENST00000264211.8_Missense_Mutation_p.G172E|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G172E|EIF4G3_ENST00000374927.4_Missense_Mutation_p.G172E|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G172E|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G179E|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000356916.3_Missense_Mutation_p.G183E NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 172 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CGTGGGTCTTCCTATGGGTGG 0.458000 29 75 0 0 0.006320 0 0 ENPEP 2028 broad.mit.edu 37 4 111397602 111397602 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:111397602G>A ENST00000265162.5 + 1 374 c.32G>A c.(31-33)aGa>aAa p.R11K NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 11 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) GGCTCTAAGAGATACTGCATT 0.438000 40 234 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181732646 181732646 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:181732646G>A ENST00000526775.1 + 33 4902 c.4737G>A c.(4735-4737)tgG>tgA p.W1579* CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.W1549*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.W1598*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.W1579*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.W1598*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.W1530*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.W1205* NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1598 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 TTTTGCTGTGGACCTTTGTGC 0.493000 11 32 0 0 0.008291 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433935 72433935 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:72433935C>T ENST00000373517.3 - 1 749 c.394G>A c.(394-396)Gaa>Aaa p.E132K NAP1L2_ENST00000536638.1_5'UTR NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 132 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCATGAAATTCCCTCAGGAAT 0.383000 64 112 0 0 0.014410 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 5 58 0 0 0.004482 0 0 AXDND1 126859 broad.mit.edu 37 1 179414159 179414159 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:179414159G>A ENST00000367618.3 + 16 2005 c.1618G>A c.(1618-1620)Gat>Aat p.D540N AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D540N NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 540 p.D540N(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GTCAAAATACGATACTCTCAA 0.383000 42 137 0 0 0.014410 0 0 COL6A5 256076 broad.mit.edu 37 3 130159348 130159348 + Missense_Mutation SNP G G A rs113660207 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:130159348G>A ENST00000265379.6 + 35 6660 c.6166G>A c.(6166-6168)Gca>Aca p.A2056T COL6A5_ENST00000432398.2_Missense_Mutation_p.A2056T A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2056 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AAATGGAGAAGCAACAATTGG 0.413000 40 49 0 0 0.008740 0 0 TMC3 342125 broad.mit.edu 37 15 81665050 81665050 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:81665050C>T ENST00000558726.1 - 2 253 c.118G>A c.(118-120)Gaa>Aaa p.E40K TMC3_ENST00000359440.5_Missense_Mutation_p.E40K Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 40 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TCCCCTGTTTCATCAGCACTA 0.448000 17 44 0 0 0.004007 0 0 BMP1 649 broad.mit.edu 37 8 22058683 22058683 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:22058683C>T ENST00000306349.8 + 16 2314 c.2160C>T c.(2158-2160)ttC>ttT p.F720F BMP1_ENST00000306385.5_Intron|BMP1_ENST00000354870.5_Intron NM_001199.3 NP_001190.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 0 EGF-like 2; calcium-binding (Potential). cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AGCTCAAATTCCGAGTGCAGA 0.617000 112 231 0 0 0.014410 0 0 NLGN1 22871 broad.mit.edu 37 3 173999060 173999060 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:173999060C>T ENST00000457714.1 + 7 2868 c.2439C>T c.(2437-2439)ccC>ccT p.P813P NLGN1_ENST00000361589.4_Silent_p.P813P|NLGN1_ENST00000545397.1_Silent_p.P813P|NLGN1_ENST00000401917.3_Silent_p.P853P NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 830 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATCCCCATCCCCACCCCCATT 0.428000 7 14 0 0 0.004482 0 0 CNGA4 1262 broad.mit.edu 37 11 6265277 6265277 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6265277G>A ENST00000379936.2 + 6 1481 c.1366G>A c.(1366-1368)Gag>Aag p.E456K NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 456 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGCTGAGCGAGTATCCACA 0.537000 44 76 0 0 0.010771 0 0 ABCA13 154664 broad.mit.edu 37 7 48451959 48451959 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:48451959C>T ENST00000435803.1 + 41 12262 c.12238C>T c.(12238-12240)Ctg>Ttg p.L4080L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4080 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 GCCTTCTGTTCTGGAGGCCCA 0.363000 3 22 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82545065 82545065 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:82545065G>A ENST00000423517.2 - 7 12574 c.12237C>T c.(12235-12237)ctC>ctT p.L4079L PCLO_ENST00000333891.8_Silent_p.L4079L|PCLO_ENST00000437081.1_Silent_p.L799L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4010 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 TGGTTCGAAGGAGACGGTCTG 0.463000 5 14 0 0 0.000602 0 0 CASP10 843 broad.mit.edu 37 2 202093788 202093788 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:202093788G>A ENST00000272879.5 + 10 1732 c.1548G>A c.(1546-1548)agG>agA p.R516R CASP10_ENST00000448480.1_Silent_p.R473R NM_032974.4 NP_116756.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 516 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 CCATGCGCAGGTGGAGCAGCG 0.587000 55 163 0 0 0.014410 0 0 ACOX2 8309 broad.mit.edu 37 3 58519830 58519830 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:58519830G>A ENST00000302819.5 - 4 657 c.366C>T c.(364-366)ttC>ttT p.F122F ACOX2_ENST00000459701.2_Silent_p.F122F NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 122 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GGGCTCTCACGAAGACTCTGT 0.527000 109 151 0 0 0.014410 0 0 CDH8 1006 broad.mit.edu 37 16 61851630 61851630 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:61851630C>T ENST00000577390.1 - 7 1984 c.1030G>A c.(1030-1032)Gac>Aac p.D344N CDH8_ENST00000299345.6_Missense_Mutation_p.D344N|CDH8_ENST00000577730.1_Missense_Mutation_p.D344N|CDH8_ENST00000584337.1_Missense_Mutation_p.D344N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 344 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTCTCAAAGTCCAGAGGCTGT 0.438000 13 25 0 0 0.001855 0 0 MYH4 4622 broad.mit.edu 37 17 10366423 10366423 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10366423C>T ENST00000255381.2 - 10 998 c.888G>A c.(886-888)aaG>aaA p.K296K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 296 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTCTGGTTTCTTATTGGACA 0.383000 23 43 0 0 0.003954 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918844 21918844 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21918844G>A ENST00000240662.2 - 3 1433 c.1088C>T c.(1087-1089)tCc>tTc p.S363F RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 363 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) AATAAGGATGGAAGGTTTCTC 0.453000 39 121 0 0 0.006230 0 0 IL16 3603 broad.mit.edu 37 15 81593826 81593826 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:81593826G>A ENST00000394660.2 + 15 3651 c.3291G>A c.(3289-3291)gtG>gtA p.V1097V IL16_ENST00000394652.2_Silent_p.V396V|IL16_ENST00000302987.4_Silent_p.V1097V NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1097 Interaction with HTLV-1 tax. 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 TCGAGGAGGTGAAGGTTCTGG 0.473000 37 92 0 0 0.005524 0 0 EPHA4 2043 broad.mit.edu 37 2 222428866 222428866 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:222428866G>A ENST00000281821.2 - 3 449 c.408C>T c.(406-408)ttC>ttT p.F136F EPHA4_ENST00000392071.4_Silent_p.F85F|EPHA4_ENST00000409938.1_Silent_p.F136F|EPHA4_ENST00000409854.1_Silent_p.F136F NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 136 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) TCTCTCTGATGAAACGCTCTT 0.468000 67 149 0 0 0.014410 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005001 101005001 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:101005001C>T ENST00000556751.1 - 5 4299 c.895G>A c.(895-897)Gaa>Aaa p.E299K BEGAIN_ENST00000355173.2_Missense_Mutation_p.E363K|BEGAIN_ENST00000443071.2_Missense_Mutation_p.E363K Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 363 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) GGGGCCACTTCGGCCTCCAGC 0.726000 3 5 0 0 0.004672 0 0 SRCIN1 80725 broad.mit.edu 37 17 36717946 36717946 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:36717946G>A ENST00000264659.7 - 7 1677 c.1453C>T c.(1453-1455)Ccc>Tcc p.P485S SRCIN1_ENST00000578925.1_Missense_Mutation_p.P519S|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 357 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GGACCTCCGGGGGGTGCTGCC 0.756000 3 6 0 0 0.004672 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57076666 57076666 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:57076666G>A ENST00000532437.1 - 5 3830 c.3519C>T c.(3517-3519)tcC>tcT p.S1173S TNKS1BP1_ENST00000358252.3_Silent_p.S1173S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1173 Acidic.|Gly-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CCACACAGCTGGACACTTCCA 0.607000 56 66 0 0 0.014410 0 0 TAP1 6890 broad.mit.edu 37 6 32815348 32815348 + Silent SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32815348A>T ENST00000354258.4 - 9 2186 c.2025T>A c.(2023-2025)gcT>gcA p.A675A PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.A414A NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 675 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 ACTTTACTGCAGCAGCTGTGA 0.498000 50 134 0 0 0.014410 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71360430 71360430 + Silent SNP C C T rs148255112 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:71360430C>T ENST00000244230.2 + 2 844 c.492C>T c.(490-492)ccC>ccT p.P164P MPHOSPH10_ENST00000498451.2_Silent_p.P164P NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 164 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GGAAAAGCCCCGTTTTCAGTG 0.433000 61 165 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13793828 13793828 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13793828C>T ENST00000265104.4 - 49 8124 c.8020G>A c.(8020-8022)Gag>Aag p.E2674K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2674 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) CGCACTATCTCATTCGTAACC 0.423000 Kartagener syndrome 20 53 0 0 0.007413 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589169 140589169 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140589169G>A ENST00000239450.2 + 1 879 c.690G>A c.(688-690)gtG>gtA p.V230V PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 230 Cadherin 2. 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) TGGTCAGGGTGGTGGTTGTAG 0.532000 76 104 0 0 0.014410 0 0 PIK3CB 5291 broad.mit.edu 37 3 138453617 138453617 + Silent SNP G G A rs146908661 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:138453617G>A ENST00000477593.1 - 6 904 c.831C>T c.(829-831)gcC>gcT p.A277A PIK3CB_ENST00000289153.2_Silent_p.A277A P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 277 PI3K-RBD. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AATGGGGCAGGGCTCTGTTCA 0.383000 53 236 0 0 0.014410 0 0 UTRN 7402 broad.mit.edu 37 6 144769802 144769802 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:144769802C>T ENST00000367545.3 + 16 1969 c.1969C>T c.(1969-1971)Cgt>Tgt p.R657C NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 657 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.R657C(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGAGACTGTTCGTGTAAGAGA 0.423000 38 61 0 0 0.005524 0 0 ERC2 26059 broad.mit.edu 37 3 56044613 56044613 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:56044613C>T ENST00000288221.6 - 9 2039 c.1784G>A c.(1783-1785)aGa>aAa p.R595K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 595 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) CTCAATTATTCTCTCCTGTAA 0.383000 27 74 0 0 0.008361 0 0 C12orf77 196415 broad.mit.edu 37 12 25148891 25148891 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:25148891G>A ENST00000549828.1 - 3 461 c.257C>T c.(256-258)cCc>cTc p.P86L C12orf77_ENST00000434912.3_Missense_Mutation_p.P31L|C12orf77_ENST00000549262.1_Missense_Mutation_p.P31L NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 86 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 GTGGCATTCGGGGGCAGGTAC 0.517000 18 37 0 0 0.007413 0 0 DIXDC1 85458 broad.mit.edu 37 11 111844759 111844759 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:111844759G>A ENST00000440460.2 + 4 626 c.329G>A c.(328-330)gGa>gAa p.G110E DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.G110E|DIXDC1_ENST00000529225.1_Missense_Mutation_p.G109E NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 110 CH. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) ATTGTGGATGGAAACCTGAAG 0.483000 21 43 0 0 0.002780 0 0 KCNQ3 3786 broad.mit.edu 37 8 133187826 133187826 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:133187826G>A ENST00000388996.4 - 5 1227 c.807C>T c.(805-807)ttC>ttT p.F269F KCNQ3_ENST00000521134.1_Silent_p.F149F|KCNQ3_ENST00000519445.1_Silent_p.F269F NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 269 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) TGAGTGTCAGGAAACCGATGT 0.493000 14 25 0 0 0.002450 0 0 CD163L1 283316 broad.mit.edu 37 12 7528404 7528404 + Missense_Mutation SNP C C T rs150856487 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7528404C>T ENST00000313599.3 - 10 2635 c.2578G>A c.(2578-2580)Gaa>Aaa p.E860K CD163L1_ENST00000396630.1_Missense_Mutation_p.E860K|CD163L1_ENST00000416109.2_Missense_Mutation_p.E870K|CD163L1_ENST00000544331.1_5'UTR Q9NR16 C163B_HUMAN CD163 molecule-like 1 860 SRCR 8. 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 TGGAACTTTTCGGCCCAAGTT 0.458000 31 128 0 0 0.009535 0 0 SCN4A 6329 broad.mit.edu 37 17 62025267 62025267 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:62025267C>T ENST00000435607.1 - 17 3377 c.3301G>A c.(3301-3303)Gac>Aac p.D1101N SCN4A_ENST00000578147.1_Missense_Mutation_p.D1101N NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1101 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ATGAGGAAGTCGAGCCAGCAC 0.587000 17 63 0 0 0.007413 0 0 TRIP12 9320 broad.mit.edu 37 2 230660029 230660029 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:230660029G>A ENST00000283943.5 - 25 3787 c.3609C>T c.(3607-3609)ccC>ccT p.P1203P TRIP12_ENST00000389045.3_Silent_p.P933P|TRIP12_ENST00000389044.4_Silent_p.P1251P NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1203 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTCTTCCAATGGGCTCTTCTC 0.393000 23 52 0 0 0.003954 0 0 SULF1 23213 broad.mit.edu 37 8 70517105 70517105 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:70517105G>A ENST00000260128.4 + 13 2032 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.E439K|SULF1_ENST00000402687.4_Missense_Mutation_p.E439K|SULF1_ENST00000419716.3_Missense_Mutation_p.E439K NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 439 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GCCCAAATATGAACGGGTCAA 0.473000 14 93 0 0 0.004007 0 0 GUSB 2990 broad.mit.edu 37 7 65444845 65444845 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:65444845C>T ENST00000304895.4 - 3 580 c.450G>A c.(448-450)gaG>gaA p.E150E GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.E150E|GUSB_ENST00000421103.1_Silent_p.E150E NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 150 E -> K (in MPS7). glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TGATGTCGGCCTCGAAGGGGA 0.642000 25 23 0 0 0.003330 0 0 SETX 23064 broad.mit.edu 37 9 135201741 135201741 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:135201741G>A ENST00000372169.2 - 10 5426 c.5244C>T c.(5242-5244)ttC>ttT p.F1748F SETX_ENST00000224140.5_Silent_p.F1748F|SETX_ENST00000393220.1_Silent_p.F1748F Q7Z333 SETX_HUMAN senataxin 1748 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity p.L1750fs*8(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CCATCAAAGGGAAAAAAACAT 0.378000 18 33 0 0 0.007413 0 0 STON1 11037 broad.mit.edu 37 2 48818851 48818851 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:48818851C>T ENST00000309835.3 + 2 2000 c.1990C>T c.(1990-1992)Ccc>Tcc p.P664S STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P664S|STON1_ENST00000406226.1_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P664S|STON1_ENST00000404752.1_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P664S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P664S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCAAGAAATTCCCTCTGATTG 0.438000 45 120 0 0 0.014410 0 0 SLC2A12 154091 broad.mit.edu 37 6 134327999 134327999 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:134327999C>T ENST00000275230.5 - 3 1673 c.1518G>A c.(1516-1518)atG>atA p.M506I NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 506 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TGCCCCAGTTCATGCTAGAAG 0.488000 13 21 0 0 0.001855 0 0 SOGA1 140710 broad.mit.edu 37 20 35431485 35431485 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:35431485G>A ENST00000237536.4 - 11 3454 c.3113C>T c.(3112-3114)gCc>gTc p.A1038V SOGA1_ENST00000279034.5_Missense_Mutation_p.A800V|SOGA1_ENST00000456801.2_Missense_Mutation_p.A641V|SOGA1_ENST00000357779.3_Missense_Mutation_p.A800V NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 800 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCGCTCCCCGGCCCCCTTCCC 0.642000 12 23 0 0 0.001855 0 0 NYAP1 222950 broad.mit.edu 37 7 100086498 100086498 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100086498C>T ENST00000423930.1 + 4 1313 c.1154C>T c.(1153-1155)cCa>cTa p.P385L NYAP1_ENST00000300179.2_Missense_Mutation_p.P385L|NYAP1_ENST00000454988.1_Missense_Mutation_p.P328L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 385 Pro-rich. ACGCCTCCCCCACCGCCTCCA 0.711000 27 62 0 0 0.008361 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800251 32800251 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:32800251G>A ENST00000329421.7 - 2 880 c.535C>T c.(535-537)Ccc>Tcc p.P179S NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 179 plasma membrane calmodulin binding breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGCCCCGAGGGAGTGGATGGC 0.632000 30 144 0 0 0.008361 0 0 SLC12A3 6559 broad.mit.edu 37 16 56906647 56906647 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:56906647C>T ENST00000438926.2 + 8 1073 c.1044C>T c.(1042-1044)ttC>ttT p.F348F SLC12A3_ENST00000566786.1_Silent_p.F347F|SLC12A3_ENST00000563236.1_Silent_p.F348F|SLC12A3_ENST00000262502.5_Silent_p.F347F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 348 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCATCTTCTTCCCCTCGGCCA 0.567000 18 107 0 0 0.004990 0 0 OR4K2 390431 broad.mit.edu 37 14 20344521 20344521 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20344521C>T ENST00000298642.2 + 1 131 c.95C>T c.(94-96)tCa>tTa p.S32L NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGGTGTTTTCATTGCTTTAT 0.413000 66 347 0 0 0.014410 0 0 THOC2 57187 broad.mit.edu 37 X 122758411 122758411 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:122758411T>G ENST00000245838.8 - 26 3198 c.3167A>C c.(3166-3168)gAt>gCt p.D1056A THOC2_ENST00000491737.1_Missense_Mutation_p.D941A|THOC2_ENST00000355725.4_Missense_Mutation_p.D1056A NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1056 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TGTGGCTCTATCACTATGCCA 0.358000 69 76 0 0 0.014410 0 0 TRIM60 166655 broad.mit.edu 37 4 165961516 165961516 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:165961516G>A ENST00000512596.1 + 3 508 c.292G>A c.(292-294)Gaa>Aaa p.E98K TRIM60_ENST00000341062.5_Missense_Mutation_p.E98K|TRIM60_ENST00000508504.1_Missense_Mutation_p.E98K NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 98 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TGCCATGTGTGAAAAACACAA 0.428000 36 75 0 0 0.003755 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560103 36560103 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:36560103C>T ENST00000373461.4 + 2 435 c.188C>T c.(187-189)tCc>tTc p.S63F VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.S63F NM_080607.2 NP_542174.1 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 63 Ig-like. central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) ATGGCCTGCTCCTTCCGCGGC 0.642000 101 220 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13931251 13931251 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13931251C>T ENST00000265104.4 - 2 264 c.160G>A c.(160-162)Gaa>Aaa p.E54K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 54 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E54K(2) 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) TCCTCCACTTCGGTTTTGTTC 0.488000 Kartagener syndrome 30 79 0 0 0.008361 0 0 OR1L1 26737 broad.mit.edu 37 9 125424585 125424585 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:125424585C>T ENST00000373686.1 + 1 741 c.741C>T c.(739-741)atC>atT p.I247I Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 TCAAAGAAATCACAGTAATGA 0.403000 82 220 0 0 0.014410 0 0 CASP8 841 broad.mit.edu 37 2 202149718 202149718 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:202149718G>A ENST00000358485.4 + 8 1355 c.1159G>A c.(1159-1161)Gga>Aga p.G387R CASP8_ENST00000323492.7_Missense_Mutation_p.G313R|CASP8_ENST00000432109.2_Missense_Mutation_p.G328R|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.G244R|CASP8_ENST00000264275.5_Missense_Mutation_p.G345R NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 328 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TGGCACTGATGGACAGGAGGC 0.468000 HNSCC(4;0.00038) 93 227 0 0 0.014410 0 0 DET1 55070 broad.mit.edu 37 15 89056206 89056206 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:89056206G>A ENST00000564406.1 - 6 1822 c.1662C>T c.(1660-1662)ttC>ttT p.F554F DET1_ENST00000444300.1_Silent_p.F554F|DET1_ENST00000268148.8_Silent_p.F543F NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 543 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GTCGCATATGGAAGTTGACAA 0.483000 32 91 0 0 0.013726 0 0 OR8K3 219473 broad.mit.edu 37 11 56086049 56086049 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56086049G>A ENST00000312711.1 + 1 267 c.267G>A c.(265-267)aaG>aaA p.K89K NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 89 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) TTGTGGATAAGAATATAATTT 0.353000 26 38 0 0 0.003954 0 0 DNAH5 1767 broad.mit.edu 37 5 13727711 13727711 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13727711C>T ENST00000265104.4 - 70 12042 c.11938G>A c.(11938-11940)Gag>Aag p.E3980K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3980 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E3980K(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) AGAGGTTCCTCCTCCGGGTTT 0.418000 Kartagener syndrome 16 62 0 0 0.003163 0 0 SYT1 6857 broad.mit.edu 37 12 79679694 79679694 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:79679694G>A ENST00000261205.4 + 5 951 c.294G>A c.(292-294)ggG>ggA p.G98G SYT1_ENST00000552744.1_Silent_p.G98G|SYT1_ENST00000393240.3_Silent_p.G98G|SYT1_ENST00000457153.2_Silent_p.G98G NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 98 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.G98G(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AAAAAGGAGGGAAGAATGCCA 0.338000 15 44 0 0 0.004007 0 0 ALX3 257 broad.mit.edu 37 1 110607308 110607308 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:110607308C>T ENST00000369792.4 - 2 582 c.495G>A c.(493-495)ctG>ctA p.L165L NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 165 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) CCAGCTCCTCCAGCTGGAATG 0.582000 43 191 0 0 0.013114 0 0 DOT1L 84444 broad.mit.edu 37 19 2226942 2226942 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:2226942C>T ENST00000398665.3 + 27 4458 c.4422C>T c.(4420-4422)ttC>ttT p.F1474F NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1474 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACCGCAGTTCGCGCTCGGCC 0.776000 22 49 0 0 0.004656 0 0 CLEC4E 26253 broad.mit.edu 37 12 8688801 8688801 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:8688801C>T ENST00000299663.3 - 5 538 c.372_splice c.e5-1 p.E125_splice CLEC4E_ENST00000545274.1_Splice_Site_p.E80_splice|CLEC4E_ENST00000446457.2_Intron NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 125 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) GAAAGGAATTCCTATGGAAGA 0.373000 27 57 0 0 0.003954 0 0 MDC1 9656 broad.mit.edu 37 6 30676091 30676091 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:30676091G>A ENST00000376406.3 - 8 2912 c.2265C>T c.(2263-2265)ttC>ttT p.F755F MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 755 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTCTCAGACAGAATGGCTGTG 0.557000 Other conserved DNA damage response genes 24 74 0 0 0.003330 0 0 PLCB1 23236 broad.mit.edu 37 20 8714011 8714011 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:8714011G>A ENST00000378641.3 + 19 2490 c.2015G>A c.(2014-2016)gGg>gAg p.G672E PLCB1_ENST00000378637.2_Missense_Mutation_p.G672E|PLCB1_ENST00000338037.6_Missense_Mutation_p.G672E|PLCB1_ENST00000494924.1_3'UTR NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 672 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 ATCGTAGATGGGATAGTGGCA 0.403000 35 85 0 0 0.006230 0 0 GABRA2 2555 broad.mit.edu 37 4 46252529 46252529 + Silent SNP G G A rs143219761 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:46252529G>A ENST00000510861.1 - 10 1325 c.1152C>T c.(1150-1152)ctC>ctT p.L384L GABRA2_ENST00000507069.1_Silent_p.L444L|GABRA2_ENST00000540012.1_Silent_p.L389L|GABRA2_ENST00000381620.4_Silent_p.L384L|GABRA2_ENST00000356504.1_Silent_p.L384L|GABRA2_ENST00000514090.1_Silent_p.L384L P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 384 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGATGGTGGAGAGAACTGGAT 0.423000 28 60 0 0 0.007291 0 0 ZNF251 90987 broad.mit.edu 37 8 145948395 145948395 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145948395G>A ENST00000292562.7 - 5 925 c.650C>T c.(649-651)aCc>aTc p.T217I ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 217 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) ATATTTGAAGGTTTTGCTGCA 0.418000 39 100 0 0 0.005524 0 0 NLRP1 22861 broad.mit.edu 37 17 5434015 5434015 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:5434015G>A ENST00000345221.3 - 12 3860 c.3306C>T c.(3304-3306)ttC>ttT p.F1102F NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.F1072F|NLRP1_ENST00000572272.1_Silent_p.F1102F|NLRP1_ENST00000354411.3_Silent_p.F1072F|NLRP1_ENST00000269280.4_Silent_p.F1102F|NLRP1_ENST00000262467.5_Silent_p.F1106F 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 1102 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) CAGCTACAGGGAAGTGAACTC 0.567000 23 43 0 0 0.002780 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032411 142032411 + RNA SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142032411G>T ENST00000547918.2 + 0 264 CAGACAAATCGGGGCTTCCCC 0.537000 12 24 7.03913e-09 7.16031e-09 0.013537 1 0 TXNDC8 255220 broad.mit.edu 37 9 113066797 113066797 + Silent SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113066797T>G ENST00000374510.4 - 5 282 c.271A>C c.(271-273)Aga>Cga p.R91R TXNDC8_ENST00000374511.3_Silent_p.R91R|TXNDC8_ENST00000423740.2_Silent_p.R71R NM_001003936.2 NP_001003936.1 Q6A555 TXND8_HUMAN thioredoxin domain containing 8 (spermatozoa) 91 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis Golgi apparatus electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CTTTTGATTCTTGAGAATAGG 0.383000 32 91 0 0 0.003755 0 0 SCN5A 6331 broad.mit.edu 37 3 38639247 38639247 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38639247G>A ENST00000413689.1 - 14 2428 c.2235C>T c.(2233-2235)ttC>ttT p.F745F SCN5A_ENST00000414099.2_Silent_p.F745F|SCN5A_ENST00000451551.2_Silent_p.F745F|SCN5A_ENST00000450102.2_Silent_p.F745F|SCN5A_ENST00000449557.2_Silent_p.F745F|SCN5A_ENST00000455624.2_Silent_p.F745F|SCN5A_ENST00000443581.1_Silent_p.F745F|SCN5A_ENST00000425664.1_Silent_p.F745F|SCN5A_ENST00000423572.2_Silent_p.F745F|SCN5A_ENST00000333535.4_Silent_p.F745F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 745 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) GCATCTCCTCGAATTCACTTG 0.562000 68 82 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10087955 10087955 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:10087955C>T ENST00000264828.3 - 44 3323 c.3238G>A c.(3238-3240)Gat>Aat p.D1080N NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1080 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCACCCACATCCCCCTGCAGA 0.612000 45 117 0 0 0.010771 0 0 SOS1 6654 broad.mit.edu 37 2 39249723 39249723 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:39249723G>A ENST00000426016.1 - 11 1932 c.1846C>T c.(1846-1848)Cat>Tat p.H616Y SOS1_ENST00000402219.2_Missense_Mutation_p.H616Y|SOS1_ENST00000395038.2_Missense_Mutation_p.H616Y Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 616 N-terminal Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GCGTACATATGGTACGTAAGC 0.368000 Noonan syndrome 17 26 0 0 0.006122 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018572 161018572 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:161018572C>T ENST00000368013.3 - 12 2559 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E570K NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 747 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ATTTCTTTTTCCTTCTCATCT 0.488000 149 500 0 0 0.014410 0 0 CDC20B 166979 broad.mit.edu 37 5 54420789 54420789 + Missense_Mutation SNP G G A rs145386958 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:54420789G>A ENST00000296733.1 - 9 1231 c.1057C>T c.(1057-1059)Cgc>Tgc p.R353C CDC20B_ENST00000381375.2_Missense_Mutation_p.R353C|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Missense_Mutation_p.R353C NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 353 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TGCTTGTGGCGAAGTGTTCCA 0.522000 49 64 0 0 0.014410 0 0 CXorf22 170063 broad.mit.edu 37 X 35974178 35974178 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:35974178C>T ENST00000297866.5 + 8 1341 c.1275C>T c.(1273-1275)ttC>ttT p.F425F NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 425 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AACCTTGTTTCATGGGTGAAC 0.363000 35 55 0 0 0.003755 0 0 PENK 5179 broad.mit.edu 37 8 57353899 57353899 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:57353899C>T ENST00000314922.3 - 2 812 c.736G>A c.(736-738)Gaa>Aaa p.E246K PENK_ENST00000451791.2_Missense_Mutation_p.E246K NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 246 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CTTTCGCCTTCTTCGTCGGAG 0.493000 93 147 0 0 0.014410 0 0 MAP1A 4130 broad.mit.edu 37 15 43820746 43820746 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:43820746G>A ENST00000382031.1 + 5 7820 c.7789G>A c.(7789-7791)Gcc>Acc p.A2597T MAP1A_ENST00000399453.1_Missense_Mutation_p.A2359T|MAP1A_ENST00000300231.5_Missense_Mutation_p.A2359T P78559 MAP1A_HUMAN microtubule-associated protein 1A 2359 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGATTGTGCAGCCAATGGCCC 0.632000 25 85 0 0 0.004656 0 0 DPRX 503834 broad.mit.edu 37 19 54137908 54137908 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:54137908C>T ENST00000376650.1 + 2 203 c.152C>T c.(151-153)tCg>tTg p.S51L NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 51 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) GAAATGGCCTCGAAAATAGAC 0.433000 55 66 0 0 0.014410 0 0 HGF 3082 broad.mit.edu 37 7 81381563 81381563 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:81381563G>A ENST00000457544.2 - 5 559 c.482_splice c.e5-1 p.S161_splice HGF_ENST00000453411.1_Splice_Site_p.S161_splice|HGF_ENST00000423064.2_Silent_p.S166S|HGF_ENST00000222390.5_Silent_p.S166S|HGF_ENST00000444829.2_Silent_p.S166S NM_001010932.1 NP_001010932.1 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 161 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TACCCCGATAGCTCGAAGGCA 0.398000 16 59 0 0 0.012319 0 0 HECTD4 283450 broad.mit.edu 37 12 112648045 112648045 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:112648045G>A ENST00000550722.1 - 50 7598 c.7203C>T c.(7201-7203)acC>acT p.T2401T HECTD4_ENST00000430131.2_Silent_p.T2125T|HECTD4_ENST00000377560.5_Silent_p.T2375T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGTTAGCTCGGGTTTTGGTGT 0.517000 55 150 0 0 0.014410 0 0 SLC9C2 284525 broad.mit.edu 37 1 173542434 173542434 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:173542434T>C ENST00000367714.3 - 9 1355 c.933A>G c.(931-933)gaA>gaG p.E311E SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.E209E|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 311 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ATATTAAATGTTCATATACAG 0.269000 25 33 0 0 0.005443 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148887969 148887969 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:148887969C>T ENST00000336498.3 + 18 1934 c.1695C>T c.(1693-1695)atC>atT p.I565I ARHGAP10_ENST00000414545.2_Silent_p.I214I NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 565 Rho-GAP. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TTGTGGAAATCTTAATTGAAA 0.393000 15 47 0 0 0.003163 0 0 ZMYM3 9203 broad.mit.edu 37 X 70466338 70466338 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:70466338G>A ENST00000373998.1 - 15 3098 c.2401C>T c.(2401-2403)Ccc>Tcc p.P801S ZMYM3_ENST00000373988.1_Missense_Mutation_p.P815S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P813S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P815S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P813S NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 813 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GGAGCAGTGGGAGCTGATCGG 0.587000 3 5 0 0 0.004672 0 0 ZNF404 342908 broad.mit.edu 37 19 44377825 44377825 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:44377825G>A ENST00000587539.1 - 3 540 c.541C>T c.(541-543)Cac>Tac p.H181Y ZNF404_ENST00000324394.6_Missense_Mutation_p.H179Y NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) AAATCAGTGTGGATTTTTCGA 0.363000 20 30 0 0 0.008871 0 0 WDR52 55779 broad.mit.edu 37 3 113135415 113135415 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:113135415G>A ENST00000393845.2 - 6 696 c.630C>T c.(628-630)atC>atT p.I210I WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Silent_p.I210I NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 210 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ATTCATAGATGATAATATCTG 0.318000 8 40 0 0 0.006214 0 0 MED12L 116931 broad.mit.edu 37 3 151085540 151085540 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:151085540C>T ENST00000474524.1 + 22 3367 c.3329C>T c.(3328-3330)tCt>tTt p.S1110F MED12L_ENST00000273432.4_Missense_Mutation_p.S970F|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1110 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) GCACTTCCCTCTCTTCTAGCA 0.453000 80 123 0 0 0.014410 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43670060 43670060 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:43670060C>T ENST00000564079.1 + 5 640 c.400C>T c.(400-402)Ccc>Tcc p.P134S TUBGCP4_ENST00000260383.7_Missense_Mutation_p.P134S|TUBGCP4_ENST00000399460.3_5'UTR NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 134 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GCTTCTTTTTCCCTCTGTGAT 0.323000 44 147 0 0 0.014410 0 0 KLK5 25818 broad.mit.edu 37 19 51453277 51453277 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51453277C>T ENST00000336334.3 - 3 521 c.169G>A c.(169-171)Gac>Aac p.D57N KLK5_ENST00000593428.1_Missense_Mutation_p.D57N|KLK5_ENST00000391809.2_Missense_Mutation_p.D57N NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 57 epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GACCGGGCGTCTTCCCCGGCC 0.622000 10 36 0 0 0.008291 0 0 HEMGN 55363 broad.mit.edu 37 9 100693425 100693425 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:100693425C>T ENST00000259456.3 - 4 395 c.252G>A c.(250-252)ttG>ttA p.L84L NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 84 Necessary for nuclear localization. cell differentiation|multicellular organismal development NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) GCTCCACCTTCAATTCTGTGT 0.423000 47 131 0 0 0.014410 0 0 GRK1 6011 broad.mit.edu 37 13 114322087 114322087 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:114322087G>A ENST00000335678.6 + 1 618 c.386G>A c.(385-387)gGg>gAg p.G129E NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 129 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CTGGATGAGGGGATAGTGGCG 0.632000 34 32 0 0 0.012213 0 0 C10orf120 399814 broad.mit.edu 37 10 124457714 124457714 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:124457714C>T ENST00000329446.4 - 3 574 c.543G>A c.(541-543)caG>caA p.Q181Q NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 181 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) AGGGTAAAGGCTGATGATTTC 0.502000 60 95 0 0 0.014410 0 0 OR52B6 340980 broad.mit.edu 37 11 5602888 5602888 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5602888G>A ENST00000345043.2 + 1 782 c.782G>A c.(781-783)gGa>gAa p.G261E HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTACCTGTGGATCCCATATC 0.488000 53 273 0 0 0.014410 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2923775 2923775 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:2923775C>T ENST00000254695.8 + 19 1727 c.1637C>T c.(1636-1638)cCa>cTa p.P546L RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P546L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P527L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P531L NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 546 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CGACAGCCTCCAGTGGTGGCG 0.612000 18 19 0 0 0.007413 0 0 LAMA5 3911 broad.mit.edu 37 20 60909353 60909353 + Silent SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:60909353C>A ENST00000252999.3 - 22 2694 c.2628G>T c.(2626-2628)ctG>ctT p.L876L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 876 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) CCTCCAGCTCCAGGCGCAGGT 0.662000 6 24 8.12818e-05 8.24609e-05 0.001984 1 0 PAK1 5058 broad.mit.edu 37 11 77085397 77085397 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:77085397C>T ENST00000356341.3 - 5 984 c.453G>A c.(451-453)gaG>gaA p.E151E PAK1_ENST00000278568.4_Silent_p.E151E|PAK1_ENST00000528203.1_Silent_p.E53E|PAK1_ENST00000530617.1_Silent_p.E151E NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 151 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) AATTGTAATCCTCAGCTGACT 0.398000 19 29 0 0 0.003330 0 0 CUX2 23316 broad.mit.edu 37 12 111757990 111757990 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:111757990C>T ENST00000261726.6 + 17 2331 c.2177C>T c.(2176-2178)tCg>tTg p.S726L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 726 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GTGCCCCCCTCGCCCCCGGAG 0.741000 3 7 0 0 0.004672 0 0 OR2T10 127069 broad.mit.edu 37 1 248756719 248756719 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248756719G>A ENST00000330500.2 - 1 381 c.351C>T c.(349-351)gcC>gcT p.A117A NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) CATAGGCCATGGCGGCTAGAA 0.562000 71 95 0 0 0.014410 0 0 OR2B3 442184 broad.mit.edu 37 6 29054567 29054567 + Silent SNP G G A rs139179669 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:29054567G>A ENST00000377173.2 - 1 523 c.459C>T c.(457-459)ttC>ttT p.F153F NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 p.F153F(2) breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CTGAGTTGCCGAAACCAATGA 0.488000 22 48 0 0 0.014323 0 0 MUC17 140453 broad.mit.edu 37 7 100685120 100685120 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100685120G>A ENST00000306151.4 + 3 10487 c.10423G>A c.(10423-10425)Gct>Act p.A3475T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3475 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) CAGTTCTGAGGCTAGCACCCT 0.498000 226 474 0 0 0.014410 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45555767 45555767 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:45555767G>A ENST00000588982.1 - 4 2225 c.1724C>T c.(1723-1725)gCc>gTc p.A575V ZBTB7C_ENST00000590800.1_Missense_Mutation_p.A575V|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.A575V|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.A575V|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.A575V A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 575 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CAGCGCGAAGGCCAGGAGGCC 0.736000 3 7 0 0 0.004672 0 0 PLCXD2 257068 broad.mit.edu 37 3 111564709 111564709 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:111564709G>A ENST00000393934.3 + 4 1478 c.908G>A c.(907-909)aGa>aAa p.R303K PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 0 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 TTCAGCAGAAGATCCTGATGG 0.458000 33 126 0 0 0.004289 0 0 UNC79 57578 broad.mit.edu 37 14 93962762 93962762 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:93962762C>T ENST00000553484.1 + 6 872 c.718C>T c.(718-720)Cat>Tat p.H240Y UNC79_ENST00000555664.1_Missense_Mutation_p.H240Y|UNC79_ENST00000393151.2_Missense_Mutation_p.H240Y|UNC79_ENST00000256339.4_Missense_Mutation_p.H63Y Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 240 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 TACAGTGTATCATTGTCAATT 0.274000 25 62 0 0 0.010818 0 0 MON2 23041 broad.mit.edu 37 12 62929435 62929435 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:62929435C>T ENST00000393630.3 + 14 2237 c.1846C>T c.(1846-1848)Cat>Tat p.H616Y MON2_ENST00000546600.1_Missense_Mutation_p.H616Y|MON2_ENST00000280379.6_Missense_Mutation_p.H616Y|MON2_ENST00000393629.2_Missense_Mutation_p.H616Y|MON2_ENST00000552738.1_Intron|MON2_ENST00000552115.1_Missense_Mutation_p.H616Y|MON2_ENST00000393632.2_Missense_Mutation_p.H616Y NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 616 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding p.H616N(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CCTGCCTCCCCATTATGCTCT 0.418000 31 123 0 0 0.009535 0 0 TTN 7273 broad.mit.edu 37 2 179416538 179416538 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179416538C>T ENST00000589042.1 - 335 91313 c.91089G>A c.(91087-91089)aaG>aaA p.K30363K TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.K28722K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.K21298K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.K21423K|TTN_ENST00000342992.6_Silent_p.K27795K|TTN_ENST00000342175.6_Silent_p.K21490K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28722 Fibronectin type-III 121. 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) TTCTTTCTTTCTTTTCAACAT 0.398000 28 120 0 0 0.009535 0 0 OR10S1 219873 broad.mit.edu 37 11 123847420 123847420 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:123847420C>T ENST00000531945.1 - 1 1068 c.979G>A c.(979-981)Ggc>Agc p.G327S NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 327 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGTGGGCTGCCTGCTGTAGAC 0.463000 23 48 0 0 0.014323 0 0 PBXIP1 57326 broad.mit.edu 37 1 154923760 154923760 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:154923760C>T ENST00000368463.3 - 5 428 c.357G>A c.(355-357)caG>caA p.Q119Q PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Silent_p.Q90Q|PBXIP1_ENST00000368460.3_Silent_p.Q119Q|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000498553.1_5'UTR NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 119 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTTCCAGGTCCTGTGTGTCTG 0.592000 35 75 0 0 0.005524 0 0 LRRC66 339977 broad.mit.edu 37 4 52862276 52862276 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:52862276G>A ENST00000343457.3 - 4 918 c.912C>T c.(910-912)cgC>cgT p.R304R NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 304 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TGGGAGGAAGGCGGGTTTCCC 0.527000 32 60 0 0 0.004878 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189510 50189510 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:50189510G>A ENST00000335999.6 - 8 2334 c.2133C>T c.(2131-2133)tcC>tcT p.S711S NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 707 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCCTGTGGATGGAGGGCACCA 0.632000 4 22 0 0 0.009096 0 0 PHF1 5252 broad.mit.edu 37 6 33383033 33383033 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:33383033C>T ENST00000374516.3 + 13 1532 c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S PHF1_ENST00000374512.3_Intron NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 421 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) TCCACCATCCCCCAGCCCTAA 0.622000 119 266 0 0 0.014410 0 0 OR5T2 219464 broad.mit.edu 37 11 55999685 55999685 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:55999685G>A ENST00000313264.4 - 1 1052 c.977C>T c.(976-978)cCc>cTc p.P326L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 326 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GTAGATGACGGGATTCAGCAA 0.343000 44 62 0 0 0.014410 0 0 LDB2 9079 broad.mit.edu 37 4 16597450 16597450 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:16597450C>T ENST00000502640.1 - 3 432 c.284G>A c.(283-285)gGa>gAa p.G95E LDB2_ENST00000304523.5_Missense_Mutation_p.G95E|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.G95E|LDB2_ENST00000515064.1_Missense_Mutation_p.G95E|LDB2_ENST00000503829.1_5'UTR O43679 LDB2_HUMAN LIM domain binding 2 95 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GGTCACCCCTCCTTCAAACAC 0.493000 5 22 0 0 0.001168 0 0 GHSR 2693 broad.mit.edu 37 3 172165763 172165763 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:172165763G>T ENST00000241256.2 - 1 483 c.441C>A c.(439-441)ttC>ttA p.F147L GHSR_ENST00000427970.1_Missense_Mutation_p.F147L NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 147 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CCCGGAGTGGGAAGCAGATGG 0.622000 23 61 4.26978e-12 4.35362e-12 0.003330 1 0 FASTKD1 79675 broad.mit.edu 37 2 170411657 170411657 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:170411657C>T ENST00000453153.2 - 7 1537 c.1191G>A c.(1189-1191)gcG>gcA p.A397A FASTKD1_ENST00000453929.2_Silent_p.A397A NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 397 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 CTCTAAGTTTCGCAAAAAACT 0.303000 26 70 0 0 0.003954 0 0 HTR3D 200909 broad.mit.edu 37 3 183755932 183755932 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:183755932C>T ENST00000382489.3 + 6 784 c.784C>T c.(784-786)Cca>Tca p.P262S HTR3D_ENST00000428798.2_Missense_Mutation_p.P214S|HTR3D_ENST00000453435.1_Missense_Mutation_p.P43S|HTR3D_ENST00000334128.2_Missense_Mutation_p.P89S NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 262 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAATTGTGCCCCATTCAAGAT 0.522000 47 89 0 0 0.014410 0 0 CT47B1 643311 broad.mit.edu 37 X 120008991 120008991 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:120008991C>T ENST00000371311.3 - 1 788 c.534G>A c.(532-534)ggG>ggA p.G178G NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 178 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GGGCTGCAGCCCCTGCACCCA 0.706000 43 61 0 0 0.008740 0 0 NEB 4703 broad.mit.edu 37 2 152500622 152500622 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:152500622G>A ENST00000397345.3 - 57 7868 c.7666C>T c.(7666-7668)Cgc>Tgc p.R2556C NEB_ENST00000172853.10_Missense_Mutation_p.R2556C|NEB_ENST00000427231.2_Missense_Mutation_p.R2556C|NEB_ENST00000604864.1_Missense_Mutation_p.R2556C|NEB_ENST00000603639.1_Missense_Mutation_p.R2556C|NEB_ENST00000409198.1_Missense_Mutation_p.R2556C NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2556 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) AGCTGCTTGCGAAAGCCTTCC 0.448000 109 227 0 0 0.014410 0 0 MYO5C 55930 broad.mit.edu 37 15 52536728 52536728 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:52536728A>T ENST00000261839.7 - 19 2376 c.2215T>A c.(2215-2217)Ttc>Atc p.F739I MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 739 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) GCTCTGAAGAAAATTTTGGTT 0.358000 31 67 0 0 0.013726 0 0 RNF150 57484 broad.mit.edu 37 4 141847198 141847198 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:141847198G>A ENST00000306799.3 - 5 1447 c.794C>T c.(793-795)cCc>cTc p.P265L RNF150_ENST00000379512.2_Missense_Mutation_p.P166L|RNF150_ENST00000420921.2_Missense_Mutation_p.P166L|RNF150_ENST00000507500.1_Missense_Mutation_p.P307L|RNF150_ENST00000515673.1_Missense_Mutation_p.P307L NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 307 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TAGAAGCCAGGGGTCAACACA 0.502000 21 56 0 0 0.014323 0 0 COPS7A 50813 broad.mit.edu 37 12 6840215 6840215 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:6840215C>T ENST00000538410.1 + 7 827 c.686C>T c.(685-687)tCg>tTg p.S229L COPS7A_ENST00000534877.1_3'UTR|COPS7A_ENST00000534947.1_3'UTR|COPS7A_ENST00000229251.3_3'UTR|COPS7A_ENST00000539735.1_3'UTR|COPS7A_ENST00000543155.1_3'UTR Q9UBW8 CSN7A_HUMAN COP9 signalosome subunit 7A 0 cullin deneddylation cytoplasm|signalosome endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 10 AAAGGACTGTCGTTTCCTCCC 0.557000 33 55 0 0 0.004878 0 0 POU5F1B 5462 broad.mit.edu 37 8 128429045 128429045 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:128429045C>T ENST00000465342.2 + 2 2091 c.934C>T c.(934-936)Cct>Tct p.P312S CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P312S Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 312 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 AGTGTCCTTTCCTCCGGCCCC 0.587000 4 15 0 0 0.009096 0 0 PHF21B 112885 broad.mit.edu 37 22 45312200 45312200 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:45312200C>T ENST00000313237.5 - 4 674 c.524G>A c.(523-525)aGc>aAc p.S175N PHF21B_ENST00000447824.3_Missense_Mutation_p.S163N|PHF21B_ENST00000404079.2_Missense_Mutation_p.S163N|PHF21B_ENST00000403565.1_Missense_Mutation_p.S13N|PHF21B_ENST00000396103.3_Missense_Mutation_p.S175N NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 175 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) GACTTTGATGCTGTCACTGAC 0.657000 70 98 0 0 0.014410 0 0 GPHN 10243 broad.mit.edu 37 14 67647551 67647551 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:67647551T>A ENST00000478722.1 + 23 3328 c.2207T>A c.(2206-2208)aTg>aAg p.M736K GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.M749K|GPHN_ENST00000305960.9_Missense_Mutation_p.M672K|GPHN_ENST00000315266.5_Missense_Mutation_p.M703K NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 703 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CTGATGAGCATGCGCAGTGCC 0.478000 T MLL AL 10 27 0 0 0.008291 0 0 KCNQ1 3784 broad.mit.edu 37 11 2592627 2592627 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:2592627C>T ENST00000155840.5 + 4 785 c.677C>T c.(676-678)gCc>gTc p.A226V KCNQ1_ENST00000335475.5_Missense_Mutation_p.A99V NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 226 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) GCCACGTCGGCCATCAGGTGC 0.677000 41 243 0 0 0.014410 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645725 51645725 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51645725C>T ENST00000317643.6 + 1 168 c.99C>T c.(97-99)tcC>tcT p.S33S SIGLEC7_ENST00000305628.7_Silent_p.S33S|SIGLEC7_ENST00000600577.1_Silent_p.S33S NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 33 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) TGCAGAGTTCCGTGACCGTGC 0.582000 29 52 0 0 0.007291 0 0 TKTL2 84076 broad.mit.edu 37 4 164394139 164394139 + Missense_Mutation SNP G G A rs140696676 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:164394139G>A ENST00000280605.3 - 1 908 c.748C>T c.(748-750)Cgg>Tgg p.R250W NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 250 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) GGAATACCCCGACCTTTGAAG 0.438000 119 184 0 0 0.014410 0 0 RHOT2 89941 broad.mit.edu 37 16 720896 720896 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:720896C>T ENST00000315082.4 + 10 758 c.644C>T c.(643-645)tCc>tTc p.S215F RHOT2_ENST00000569943.2_3'UTR NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 215 EF-hand 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) AAGCAGAAATCCTGCTTTGGG 0.672000 9 31 0 0 0.004482 0 0 NPY2R 4887 broad.mit.edu 37 4 156135439 156135439 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:156135439G>A ENST00000329476.3 + 2 837 c.348G>A c.(346-348)tgG>tgA p.W116* NPY2R_ENST00000506608.1_Nonsense_Mutation_p.W116* NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 116 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) TGGGGGAGTGGAAAATGGGTC 0.507000 24 37 0 0 0.003954 0 0 DPYD 1806 broad.mit.edu 37 1 98165025 98165025 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:98165025C>G ENST00000370192.3 - 6 662 c.562G>C c.(562-564)Gca>Cca p.A188P DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 188 '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) GCAATCTTTGCAGAATAGGCT 0.423000 33 157 0 0 0.003271 0 0 SVEP1 79987 broad.mit.edu 37 9 113173478 113173478 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:113173478G>A ENST00000401783.2 - 37 6849 c.6513C>T c.(6511-6513)agC>agT p.S2171S SVEP1_ENST00000297826.5_Silent_p.S97S|SVEP1_ENST00000374469.1_Silent_p.S2148S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2171 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTTGTTGCAGCTGTAAGCCA 0.532000 41 111 0 0 0.014410 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58564883 58564883 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:58564883G>A ENST00000282326.1 + 6 938 c.691G>A c.(691-693)Gaa>Aaa p.E231K NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 231 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCTGCGGGCAGAAGGGACTGT 0.642000 35 61 0 0 0.013726 0 0 TNC 3371 broad.mit.edu 37 9 117853253 117853253 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:117853253G>A ENST00000350763.4 - 2 456 c.45C>T c.(43-45)ttC>ttT p.F15F TNC_ENST00000341037.4_Silent_p.F15F|TNC_ENST00000537320.1_Silent_p.F15F|TNC_ENST00000345230.3_Silent_p.F15F|TNC_ENST00000346706.3_Silent_p.F15F|TNC_ENST00000535648.1_Silent_p.F15F|TNC_ENST00000542877.1_Silent_p.F15F|TNC_ENST00000423613.2_Silent_p.F15F|TNC_ENST00000340094.3_Silent_p.F15F NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 15 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CGAGGGCAAGGAAAGCAAGAA 0.597000 21 49 0 0 0.002780 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918790 21918790 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21918790C>T ENST00000240662.2 - 3 1487 c.1142G>A c.(1141-1143)aGg>aAg p.R381K RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 381 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) GTTGCGCTTCCTCAGAGAATT 0.458000 42 130 0 0 0.008740 0 0 SLC35F4 341880 broad.mit.edu 37 14 58055945 58055945 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:58055945C>T ENST00000556826.1 - 3 812 c.576G>A c.(574-576)atG>atA p.M192I SLC35F4_ENST00000554729.1_Missense_Mutation_p.M69I|SLC35F4_ENST00000339762.6_Missense_Mutation_p.M228I NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGAATTTTTTCATTGGAGATT 0.333000 35 54 0 0 0.007835 0 0 LMCD1 29995 broad.mit.edu 37 3 8590280 8590280 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:8590280C>T ENST00000157600.3 + 4 646 c.414C>T c.(412-414)ccC>ccT p.P138P LMCD1_ENST00000535732.1_Silent_p.P138P|LMCD1_ENST00000454244.1_Silent_p.P65P|LMCD1_ENST00000397386.3_Silent_p.P26P|LMCD1-AS1_ENST00000439407.1_RNA NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 138 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) AGCTCATCCCCAAGGAGAAGC 0.567000 80 87 0 0 0.014410 0 0 OR8A1 390275 broad.mit.edu 37 11 124440633 124440633 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:124440633C>T ENST00000284287.3 + 1 741 c.669C>T c.(667-669)atC>atT p.I223I NM_001005194.1 NP_001005194.1 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, member 1 223 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) GATTCAACATCATAGTCACGA 0.478000 36 44 0 0 0.003271 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113181779 113181779 + Missense_Mutation SNP G G A rs141265299 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:113181779G>A ENST00000261965.3 - 12 1541 c.1355C>T c.(1354-1356)cCa>cTa p.P452L TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P452L NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 452 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) TTTAACTGTTGGATCTGATGC 0.378000 143 93 0 0 0.014410 0 0 MAOB 4129 broad.mit.edu 37 X 43628571 43628571 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:43628571C>T ENST00000378069.4 - 13 1477 c.1330G>A c.(1330-1332)Gag>Aag p.E444K MAOB_ENST00000538942.1_Missense_Mutation_p.G395E|MAOB_ENST00000536181.1_Missense_Mutation_p.E428K NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 444 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) GCTGCTCTCTCCCCGGCCTCT 0.572000 16 21 0 0 0.006122 0 0 RYR3 6263 broad.mit.edu 37 15 34015064 34015064 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:34015064C>T ENST00000389232.4 + 44 6838 c.6768C>T c.(6766-6768)ctC>ctT p.L2256L RYR3_ENST00000415757.3_Silent_p.L2256L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2256 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACCCAGCGCTCGACCTCCCCT 0.562000 61 174 0 0 0.014410 0 0 INADL 10207 broad.mit.edu 37 1 62235066 62235066 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:62235066G>A ENST00000371158.2 + 5 610 c.496G>A c.(496-498)Gat>Aat p.D166N INADL_ENST00000316485.6_Missense_Mutation_p.D166N NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 166 PDZ 1. 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 CTTCGTGAAGGATGTCCAGCC 0.403000 48 169 0 0 0.014410 0 0 GAK 2580 broad.mit.edu 37 4 853511 853511 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:853511C>T ENST00000314167.4 - 24 3277 c.e24-1 GAK_ENST00000509566.1_Splice_Site|GAK_ENST00000511163.1_Splice_Site NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 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) AAGAGGGGGCCTGGAGAAGGG 0.602000 20 110 0 0 0.014323 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347685 140347685 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140347685G>A ENST00000289269.5 + 1 1866 c.1334G>A c.(1333-1335)gGa>gAa p.G445E PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 445 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGATGGGGGAATACCGCAG 0.527000 72 134 0 0 0.014410 0 0 TRAV2 28691 broad.mit.edu 37 14 22181016 22181016 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22181016C>T ENST00000390424.2 + 0 298 CGCTGCTCATCCTCCAGGTGC 0.527000 44 107 0 0 0.009718 0 0 TSC22D4 81628 broad.mit.edu 37 7 100075471 100075471 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100075471G>A ENST00000300181.2 - 2 945 c.191C>T c.(190-192)cCa>cTa p.P64L TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 64 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCCCAGGTGGTGGGGAGCC 0.716000 7 15 0 0 0.003080 0 0 PITPNM2 57605 broad.mit.edu 37 12 123494574 123494574 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:123494574C>T ENST00000280562.5 - 5 671 c.466G>A c.(466-468)Gaa>Aaa p.E156K PITPNM2_ENST00000546049.1_Missense_Mutation_p.E156K|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E156K|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E156K Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 156 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GGGTCCTCTTCTGTCTTATAC 0.552000 65 155 0 0 0.014410 0 0 SYNM 23336 broad.mit.edu 37 15 99670730 99670730 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:99670730C>A ENST00000336292.6 + 5 2282 c.2162C>A c.(2161-2163)gCc>gAc p.A721D SYNM_ENST00000328642.7_Missense_Mutation_p.A721D|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Missense_Mutation_p.A436D NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 722 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 GGCAAGTCAGCCGAGCAGATG 0.512000 23 48 3.8784e-16 3.96046e-16 0.012319 1 0 ABLIM1 3983 broad.mit.edu 37 10 116213220 116213220 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:116213220C>T ENST00000369252.4 - 13 1585 c.1284G>A c.(1282-1284)cgG>cgA p.R428R ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000369253.2_Intron|ABLIM1_ENST00000392952.3_Intron|ABLIM1_ENST00000277895.5_Silent_p.R488R|ABLIM1_ENST00000533213.2_Silent_p.R428R NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 488 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GAGGGGAGTTCCGGCCGCTGG 0.488000 40 37 0 0 0.008740 0 0 FDX1L 112812 broad.mit.edu 37 19 10426415 10426415 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:10426415C>T ENST00000541276.1 - 2 178 c.175G>A c.(175-177)Gag>Aag p.E59K FDX1L_ENST00000393708.3_Missense_Mutation_p.E56K|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.12_ENST00000586529.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.E56K|FDX1L_ENST00000494368.1_5'UTR Q6P4F2 ADXL_HUMAN ferredoxin 1-like 56 electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) CCCGCGTCCTCCTCTCCAGCC 0.721000 3 7 0 0 0.004672 0 0 TMEM71 137835 broad.mit.edu 37 8 133764044 133764044 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:133764044C>T ENST00000356838.3 - 4 443 c.301G>A c.(301-303)Gag>Aag p.E101K TMEM71_ENST00000523829.1_Missense_Mutation_p.E101K|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.E101K NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 101 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) ACTAAGTTCTCCTTATACATA 0.383000 42 87 0 0 0.014410 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783933 140783933 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140783933T>C ENST00000573521.1 + 1 1414 c.1414T>C c.(1414-1416)Ttc>Ctc p.F472L PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_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) TACTTCCATCTTCTCCGTGAT 0.478000 50 60 0 0 0.014410 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119785 38119785 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:38119785C>T ENST00000406386.3 + 7 1477 c.1222C>T c.(1222-1224)Cag>Tag p.Q408* RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 408 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ATCCTGTGCCCAGCGGGACAA 0.592000 93 145 0 0 0.014410 0 0 SNTG1 54212 broad.mit.edu 37 8 51705277 51705277 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:51705277C>T ENST00000522124.1 + 19 2103 c.1442C>T c.(1441-1443)tCc>tTc p.S481F SNTG1_ENST00000518864.1_Missense_Mutation_p.S481F|SNTG1_ENST00000276467.5_Missense_Mutation_p.S444F|SNTG1_ENST00000517473.1_Missense_Mutation_p.S444F NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 481 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) TGCATTCATTCCTTCTTTGCT 0.388000 8 38 0 0 0.004482 0 0 OR4K5 79317 broad.mit.edu 37 14 20389381 20389381 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20389381C>T ENST00000315915.4 + 1 641 c.616C>T c.(616-618)Ctt>Ttt p.L206F NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGTGGAATTCTTTCCCTAAG 0.408000 32 187 0 0 0.012213 0 0 CMYA5 202333 broad.mit.edu 37 5 79054675 79054675 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:79054675C>T ENST00000446378.2 + 7 11241 c.11210C>T c.(11209-11211)tCa>tTa p.S3737L CMYA5_ENST00000505466.1_3'UTR NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3737 Fibronectin type-III 1. perinuclear region of cytoplasm p.S3737*(1) 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) GTCATTGATTCATTTCAGGTT 0.408000 31 59 0 0 0.010818 0 0 C9orf3 84909 broad.mit.edu 37 9 97730049 97730049 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:97730049C>T ENST00000375315.2 + 9 1882 c.1882C>T c.(1882-1884)Caa>Taa p.Q628* C9orf3_ENST00000297979.5_Nonsense_Mutation_p.Q529* NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 628 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GGATTTCCTTCAAATGCTACT 0.378000 20 71 0 0 0.012319 0 0 DNAH8 1769 broad.mit.edu 37 6 38941544 38941544 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:38941544G>A ENST00000359357.3 + 82 12236 c.11982G>A c.(11980-11982)tgG>tgA p.W3994* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W3958* 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 TCCGAGTATGGATAACTACGG 0.393000 15 56 0 0 0.004007 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481280 142481280 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142481280C>T ENST00000603901.1 + 0 354 NR_001296.3 CACCTGCCGTCATCAATGCCC 0.547000 27 65 0 0 0.009535 0 0 FYB 2533 broad.mit.edu 37 5 39110480 39110480 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:39110480G>A ENST00000351578.6 - 16 2465 c.2275C>T c.(2275-2277)Ctt>Ttt p.L759F FYB_ENST00000505428.1_Missense_Mutation_p.L805F|FYB_ENST00000512982.1_Missense_Mutation_p.L805F|FYB_ENST00000540520.1_Missense_Mutation_p.L815F|FYB_ENST00000515010.1_Missense_Mutation_p.L759F NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 759 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TAACTCCGAAGGACATAACCA 0.303000 6 14 0 0 0.001168 0 0 LRP10 26020 broad.mit.edu 37 14 23344856 23344856 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23344856C>T ENST00000359591.4 + 5 1390 c.699C>T c.(697-699)gcC>gcT p.A233A LRP10_ENST00000546834.1_Silent_p.A233A NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 233 CUB 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GGCGGCTGGCCGTGCGCTTCA 0.627000 57 135 0 0 0.014410 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67564286 67564286 + RNA SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:67564286T>A ENST00000528089.1 - 0 854 CACGATGGCTTCTGGGCTATA 0.617000 16 18 0 0 0.008871 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041368 234041368 + Silent SNP G G A rs137942881 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:234041368G>A ENST00000366618.3 + 2 292 c.147G>A c.(145-147)gcG>gcA p.A49A NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGGACGAGGCGATTAAGGAGG 0.642000 56 100 0 0 0.014410 0 0 VRTN 55237 broad.mit.edu 37 14 74824495 74824495 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:74824495C>G ENST00000256362.4 + 2 1250 c.1009C>G c.(1009-1011)Cag>Gag p.Q337E NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 337 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 GCAGTTCCTCCAGCGGTTCCC 0.667000 46 134 0 0 0.014410 0 0 KMT2B 9757 broad.mit.edu 37 19 36222932 36222932 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:36222932C>T ENST00000420124.1 + 27 5561 c.5561C>T c.(5560-5562)cCt>cTt p.P1854L KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P1854L AGCGCCCCTCCTCCAGCCCCC 0.642000 11 20 0 0 0.010729 0 0 KMT2D 8085 broad.mit.edu 37 12 49424442 49424442 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:49424442G>A ENST00000301067.7 - 41 13780 c.13781C>T c.(13780-13782)gCc>gTc p.A4594V NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ACTTCCAAAGGCCCCCCTCAG 0.547000 27 54 0 0 0.004656 0 0 TPTE2 93492 broad.mit.edu 37 13 20067628 20067628 + Missense_Mutation SNP C C T rs140148307 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:20067628C>T ENST00000400230.2 - 2 69 c.25G>A c.(25-27)Gaa>Aaa p.E9K TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 9 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CCTTTAAATTCGTTTGTCTGT 0.358000 50 81 0 0 0.014410 0 0 TRIML1 339976 broad.mit.edu 37 4 189060973 189060973 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:189060973G>A ENST00000332517.3 + 1 401 c.261G>A c.(259-261)caG>caA p.Q87Q NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 87 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGGTGCTGCAGAGCGAGGATG 0.657000 29 67 0 0 0.006320 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033550 110033550 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:110033550C>T ENST00000369870.3 + 10 1380 c.1365C>T c.(1363-1365)atC>atT p.I455I NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 455 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GCAGGAAGATCCCACCGGCAG 0.572000 OREG0013635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 495 0 0 0.014410 0 0 NTNG1 22854 broad.mit.edu 37 1 107691411 107691411 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:107691411G>A ENST00000370067.1 + 2 823 c.196G>A c.(196-198)Gat>Aat p.D66N NTNG1_ENST00000370070.2_Missense_Mutation_p.D66N|NTNG1_ENST00000370061.3_Missense_Mutation_p.D66N|NTNG1_ENST00000370065.1_Missense_Mutation_p.D66N|NTNG1_ENST00000370074.4_Missense_Mutation_p.D66N|NTNG1_ENST00000370068.1_Missense_Mutation_p.D66N|NTNG1_ENST00000370066.1_Missense_Mutation_p.D66N|NTNG1_ENST00000370071.2_Missense_Mutation_p.D66N|NTNG1_ENST00000370072.3_Missense_Mutation_p.D66N|NTNG1_ENST00000370073.2_Missense_Mutation_p.D66N|NTNG1_ENST00000542803.1_Missense_Mutation_p.D66N Q9Y2I2 NTNG1_HUMAN netrin G1 66 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding p.D66Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AGTGAAACTCGATCCTCCGGA 0.438000 72 87 0 0 0.014410 0 0 TRPV5 56302 broad.mit.edu 37 7 142609744 142609744 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142609744G>A ENST00000265310.1 - 13 2040 c.1692C>T c.(1690-1692)atC>atT p.I564I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 564 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GTGTGGCAATGATGGCGAAGG 0.542000 51 131 0 0 0.014410 0 0 NPR1 4881 broad.mit.edu 37 1 153655936 153655936 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:153655936C>T ENST00000368680.3 + 6 1820 c.1348C>T c.(1348-1350)Cct>Tct p.P450S NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 450 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GTACCCTCCTCCTGACATCCC 0.572000 49 116 0 0 0.014410 0 0 INTS1 26173 broad.mit.edu 37 7 1535814 1535814 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:1535814G>A ENST00000389470.4 - 13 2072 c.2073C>T c.(2071-2073)gcC>gcT p.A691A INTS1_ENST00000404767.3_Silent_p.A563A Q8N201 INT1_HUMAN integrator complex subunit 1 563 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CTTTGTCCCAGGCGATGCCGG 0.652000 31 75 0 0 0.013726 0 0 MYO1G 64005 broad.mit.edu 37 7 45005696 45005696 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:45005696G>A ENST00000258787.7 - 16 2269 c.2133C>T c.(2131-2133)ccC>ccT p.P711P NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 711 IQ. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GCACAATGATGGGGATGAGGC 0.612000 15 59 0 0 0.006122 0 0 CDH2 1000 broad.mit.edu 37 18 25570243 25570243 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:25570243C>T ENST00000269141.3 - 10 1839 c.1416G>A c.(1414-1416)aaG>aaA p.K472K CDH2_ENST00000399380.3_Silent_p.K441K NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 472 Cadherin 3. 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 p.K472N(1) 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 GCTGAATTCCCTTGGCTAATG 0.418000 23 41 0 0 0.003954 0 0 EIF3I 8668 broad.mit.edu 37 1 32691786 32691786 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:32691786C>T ENST00000373586.1 + 5 337 c.265C>T c.(265-267)Ctt>Ttt p.L89F EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 89 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) GCAGCTGGCCCTTCTCAAGAC 0.517000 32 121 0 0 0.004878 0 0 MCM2 4171 broad.mit.edu 37 3 127336840 127336840 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:127336840C>T ENST00000265056.7 + 12 2173 c.1929C>T c.(1927-1929)ttC>ttT p.F643F MCM2_ENST00000468414.1_3'UTR NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 643 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CGCTGACTTTCTCTGAGAACG 0.587000 31 49 0 0 0.003755 0 0 SNHG14 104472715 broad.mit.edu 37 15 25453081 25453081 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:25453081G>A ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 GGGCCCAATGGAGCTGGGCCA 0.597000 20 47 0 0 0.007413 0 0 MYO1H 283446 broad.mit.edu 37 12 109845641 109845641 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:109845641G>A ENST00000310903.5 + 10 1136 c.1030G>A c.(1030-1032)Gat>Aat p.D344N MYO1H_ENST00000431443.2_Missense_Mutation_p.D344N|MYO1H_ENST00000542883.1_3'UTR B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CTACGCTAGAGATGCAATGGC 0.438000 29 73 0 0 0.008361 0 0 ASTN2 23245 broad.mit.edu 37 9 119976733 119976733 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:119976733G>A ENST00000313400.4 - 3 1019 c.919C>T c.(919-921)Cat>Tat p.H307Y ASTN2_ENST00000373996.3_Missense_Mutation_p.H307Y|ASTN2_ENST00000361209.2_Missense_Mutation_p.H307Y|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 307 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGGAGACATGGTTGGCCCGC 0.577000 43 106 0 0 0.006999 0 0 ACOXL 55289 broad.mit.edu 37 2 111789230 111789230 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:111789230C>T ENST00000389811.4 + 16 1622 c.1398C>T c.(1396-1398)ttC>ttT p.F466F ACOXL_ENST00000439055.1_Silent_p.F436F Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 466 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 AGGATTTTTTCCATGCCTGGA 0.458000 28 70 0 0 0.008361 0 0 DNAH5 1767 broad.mit.edu 37 5 13901576 13901576 + Missense_Mutation SNP C C T rs141072655 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13901576C>T ENST00000265104.4 - 14 1941 c.1837G>A c.(1837-1839)Gat>Aat p.D613N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 613 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAGGAGGATCGTATTTCTGC 0.448000 Kartagener syndrome 18 31 0 0 0.006122 0 0 WNK2 65268 broad.mit.edu 37 9 96051806 96051806 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:96051806G>A ENST00000297954.4 + 20 4881 c.4881G>A c.(4879-4881)ggG>ggA p.G1627G WNK2_ENST00000427277.2_Silent_p.G1202G|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.G1590G|WNK2_ENST00000349097.3_Silent_p.G1239G Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1627 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCTGAGAGGGGACCAGCCCC 0.692000 15 32 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179610723 179610723 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179610723G>A ENST00000360870.5 - 46 16626 c.16404C>T c.(16402-16404)ctC>ctT p.L5468L TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8975 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCCCATGGTGAGGAATCCCC 0.403000 25 68 0 0 0.004656 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088616 65088616 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65088616T>A ENST00000544348.1 + 2 853 c.247T>A c.(247-249)Ttc>Atc p.F83I CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F83I|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F83I O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 83 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 CGACCTCCCCTTCCAGTTCAC 0.642000 45 55 0 0 0.010771 0 0 SLC30A9 10463 broad.mit.edu 37 4 42065032 42065032 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:42065032C>T ENST00000264451.6 + 11 1106 c.926C>T c.(925-927)tCt>tTt p.S309F NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 309 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CGCTATATTTCTTCGCTAATT 0.348000 26 131 0 0 0.004656 0 0 TMEM37 140738 broad.mit.edu 37 2 120194503 120194503 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:120194503C>T ENST00000306406.4 + 2 95 c.60C>T c.(58-60)tcC>tcT p.S20S TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Silent_p.S32S NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 20 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CCCGCCGGTCCTTCTTTGAAT 0.617000 39 122 0 0 0.004878 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227242 25227242 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:25227242C>T ENST00000551631.2 + 0 545 SNHG14_ENST00000551361.1_RNA NR_001293.1 CTAGACTTTTCGATTTCAAGA 0.348000 52 139 0 0 0.014410 0 0 GPR115 221393 broad.mit.edu 37 6 47680209 47680209 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:47680209C>T ENST00000283303.2 + 5 675 c.417C>T c.(415-417)tgC>tgT p.C139C GPR115_ENST00000327753.3_Silent_p.C139C|GPR115_ENST00000371220.1_Silent_p.C196C NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 139 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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 GTAAGAACTGCCCCTTTGATT 0.403000 28 98 0 0 0.008361 0 0 WNK2 65268 broad.mit.edu 37 9 96051605 96051605 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:96051605C>T ENST00000297954.4 + 20 4680 c.4680C>T c.(4678-4680)gtC>gtT p.V1560V WNK2_ENST00000427277.2_Silent_p.V1135V|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.V1523V|WNK2_ENST00000349097.3_Silent_p.V1172V Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1560 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GGCCCACCGTCCCCCCACAGC 0.711000 4 17 0 0 0.009096 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872956 51872956 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:51872956G>A ENST00000371497.5 + 2 3846 c.2959G>A c.(2959-2961)Gaa>Aaa p.E987K TSHZ2_ENST00000603338.2_Missense_Mutation_p.E984K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E984K|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 987 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AATAGCTGCCGAAGAGGACAC 0.502000 37 81 0 0 0.004289 0 0 EXPH5 23086 broad.mit.edu 37 11 108381909 108381909 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:108381909C>T ENST00000265843.4 - 6 4435 c.4325G>A c.(4324-4326)aGa>aAa p.R1442K EXPH5_ENST00000525344.1_Missense_Mutation_p.R1435K|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1366K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1254K NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1442 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CCAAGAACTTCTTCTAGTTTG 0.423000 30 56 0 0 0.006320 0 0 GPR113 165082 broad.mit.edu 37 2 26533851 26533851 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:26533851C>T ENST00000333478.6 - 8 2730 c.2148G>A c.(2146-2148)ggG>ggA p.G716G GPR113_ENST00000421160.2_Silent_p.G846G|GPR113_ENST00000311519.1_Silent_p.G915G|GPR113_ENST00000541401.1_Silent_p.G518G|GPR113_ENST00000459892.1_5'UTR NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 915 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCAGCATTCCCCCTCCCTCA 0.612000 14 24 0 0 0.003163 0 0 SYN2 6854 broad.mit.edu 37 3 12182185 12182185 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:12182185G>A ENST00000432424.2 + 0 584 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGTCCTTGGAGATTATGATAT 0.433000 17 65 0 0 0.010504 0 0 CACNG2 10369 broad.mit.edu 37 22 36960801 36960801 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:36960801G>A ENST00000300105.6 - 4 1550 c.569C>T c.(568-570)gCc>gTc p.A190V NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 190 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 GACCATCTCGGCGATGATGAA 0.597000 140 496 0 0 0.014410 0 0 DPP10 57628 broad.mit.edu 37 2 116548728 116548728 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:116548728A>T ENST00000410059.1 + 18 2083 c.1603A>T c.(1603-1605)Att>Ttt p.I535F DPP10_ENST00000310323.8_Missense_Mutation_p.I528F|DPP10_ENST00000409163.1_Missense_Mutation_p.I485F|DPP10_ENST00000393147.2_Missense_Mutation_p.I539F NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 535 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 AAAGCCAGAAATTAAAATCCT 0.328000 42 86 0 0 0.014410 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522422 32522422 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32522422C>T ENST00000411500.1 - 0 740 NR_001298.1 AGCACAGTCCCCTTCTTGGTG 0.493000 93 116 0 0 0.014410 0 0 GALNT6 11226 broad.mit.edu 37 12 51751178 51751178 + Silent SNP C C T rs148799204 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:51751178C>T ENST00000543196.2 - 9 1762 c.1557G>A c.(1555-1557)ggG>ggA p.G519G GALNT6_ENST00000356317.3_Silent_p.G519G Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 519 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TGAGGGGCTTCCCCCCGCGGT 0.602000 37 70 0 0 0.010771 0 0 SCAND3 114821 broad.mit.edu 37 6 28542523 28542523 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:28542523C>T ENST00000452236.2 - 3 2576 c.1959G>A c.(1957-1959)atG>atA p.M653I NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 653 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 GTTTCCTCTTCATTGTGCTGG 0.433000 45 83 0 0 0.011902 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164527 12164527 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:12164527C>T ENST00000379388.2 + 9 8322 c.7990C>T c.(7990-7992)Ctg>Ttg p.L2664L HIVEP1_ENST00000541134.1_Silent_p.L529L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2664 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTCACAACCTCTGCTGAAGGC 0.552000 18 41 0 0 0.008871 0 0 SPDYE4 388333 broad.mit.edu 37 17 8660621 8660621 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:8660621G>A ENST00000328794.6 - 2 475 c.299C>T c.(298-300)tCc>tTc p.S100F NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 100 breast(1)|endometrium(2)|kidney(1) 4 AGGGAGCACGGAGGATGCTCG 0.567000 4 3 0 0 0.001168 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72190486 72190486 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:72190486C>T ENST00000555818.1 + 16 4742 c.4394C>T c.(4393-4395)tCc>tTc p.S1465F SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S919F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1444F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1444F|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1465 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) tcctcttcctcctcctcctcT 0.552000 60 145 0 0 0.014410 0 0 VWCE 220001 broad.mit.edu 37 11 61026432 61026432 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:61026432G>A ENST00000335613.5 - 20 2969 c.2583C>T c.(2581-2583)tcC>tcT p.S861S VWCE_ENST00000535710.1_Silent_p.S326S NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 861 Pro-rich. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GAGCCCCTGGGGAAGCTAGAG 0.672000 25 20 0 0 0.005443 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128660 126128660 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:126128660G>A ENST00000299308.3 + 6 1469 c.1461G>A c.(1459-1461)aaG>aaA p.K487K TMEM132B_ENST00000535886.1_5'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 487 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGAATGGGAAGGAAATGAAGA 0.483000 21 81 0 0 0.010504 0 0 TP63 8626 broad.mit.edu 37 3 189612176 189612176 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:189612176G>A ENST00000264731.3 + 14 2017 c.1928G>A c.(1927-1929)cGa>cAa p.R643Q TP63_ENST00000440651.2_Missense_Mutation_p.R639Q|TP63_ENST00000456148.1_Missense_Mutation_p.R545Q|TP63_ENST00000449992.1_Missense_Mutation_p.R464Q|TP63_ENST00000354600.5_Missense_Mutation_p.R549Q|TP63_ENST00000382063.4_Missense_Mutation_p.R558Q|TP63_ENST00000320472.5_3'UTR NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 643 Transactivation inhibition. 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) GATGCTGTGCGATTCACCCTC 0.552000 HNSCC(45;0.13) 39 80 0 0 0.009718 0 0 GSTA5 221357 broad.mit.edu 37 6 52698975 52698975 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:52698975C>T ENST00000370989.1 - 5 536 c.378G>A c.(376-378)gaG>gaA p.E126E GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Silent_p.E126E Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 126 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.E126D(1) endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Lung NSC(77;0.0912) Glutathione(DB00143) TTTTTATTTTCTCTTTGACCA 0.388000 106 354 0 0 0.014410 0 0 HOOK1 51361 broad.mit.edu 37 1 60314051 60314051 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:60314051G>A ENST00000371208.3 + 11 1251 c.994G>A c.(994-996)Gat>Aat p.D332N HOOK1_ENST00000395561.2_Missense_Mutation_p.D290N|HOOK1_ENST00000465876.1_3'UTR NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 332 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) GAAGCTACAAGATCTGAATGA 0.343000 7 31 0 0 0.004482 0 0 FAM155A 728215 broad.mit.edu 37 13 107823029 107823029 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:107823029G>A ENST00000375915.2 - 3 1331 c.1193C>T c.(1192-1194)tCc>tTc p.S398F NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 398 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CCTGTGACAGGAGCCACTTTT 0.448000 56 25 0 0 0.014410 0 0 DPM2 8818 broad.mit.edu 37 9 130698837 130698837 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:130698837A>C ENST00000314392.8 - 3 854 c.191T>G c.(190-192)tTt>tGt p.F64C RP11-203J24.8_ENST00000592240.1_RNA|DPM2_ENST00000373110.4_Missense_Mutation_p.F64C NM_003863.3 NP_003854.1 O94777 DPM2_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 64 C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane protein binding lung(1) 1 CTTACCCACAAACAGGAGCAG 0.582000 54 165 0 0 0.014410 0 0 RNH1 6050 broad.mit.edu 37 11 502132 502132 + Nonsense_Mutation SNP G G A rs71462090 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:502132G>A ENST00000534797.1 - 1 1438 c.31C>T c.(31-33)Cag>Tag p.Q11* RNH1_ENST00000438658.2_Nonsense_Mutation_p.Q11*|RNH1_ENST00000356187.5_Nonsense_Mutation_p.Q11*|RNH1_ENST00000397614.1_Nonsense_Mutation_p.Q11*|RNH1_ENST00000397615.2_Nonsense_Mutation_p.Q11*|RNH1_ENST00000354420.2_Nonsense_Mutation_p.Q11*|RNH1_ENST00000397604.3_Nonsense_Mutation_p.Q11*|RNH1_ENST00000533592.1_5'UTR|RNH1_ENST00000533410.1_Nonsense_Mutation_p.Q11* P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 1 11 2 X 5 AA tandem repeats of S-L-D-I-Q. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(49;3.02e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCTCACACTGGATGTCCAGG 0.627000 5 32 0 0 0.001984 0 0 ELFN2 114794 broad.mit.edu 37 22 37771275 37771275 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:37771275C>T ENST00000402918.1 - 3 1085 c.300G>A c.(298-300)ctG>ctA p.L100L RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.L100L NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 100 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TCGACTGGCCCAGGAAGGCAC 0.597000 72 106 0 0 0.014410 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993536 140993536 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:140993536C>T ENST00000285879.4 + 4 632 c.346C>T c.(346-348)Cag>Tag p.Q116* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 116 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGAGATTTCTCAGAGCCCTCC 0.532000 HNSCC(15;0.026) 80 98 0 0 0.014410 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291656 1291656 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:1291656G>A ENST00000461509.2 + 3 670 c.476G>A c.(475-477)gGg>gAg p.G159E TPSAB1_ENST00000338844.3_Missense_Mutation_p.G152E P20231 TRYB2_HUMAN tryptase alpha/beta 1 152 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity p.G152>?(1) NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) TTCCCCCCGGGGATGCCGTGC 0.682000 3 39 0 0 0.009096 0 0 RPTOR 57521 broad.mit.edu 37 17 78897296 78897296 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:78897296C>T ENST00000306801.3 + 23 2993 c.2631C>T c.(2629-2631)tcC>tcT p.S877S RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.S719S NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 877 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 GCAGGGGCTCCCCTCCGGCGT 0.632000 12 79 0 0 0.010729 0 0 GALNT14 79623 broad.mit.edu 37 2 31165110 31165110 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:31165110C>T ENST00000349752.5 - 9 1527 c.888G>A c.(886-888)ggG>ggA p.G296G GALNT14_ENST00000356174.3_Silent_p.G263G|GALNT14_ENST00000420311.2_Silent_p.G261G|GALNT14_ENST00000406653.1_Silent_p.G276G|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.G301G NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 296 Catalytic subdomain B. 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) TATCATATTTCCCCAGGTAAT 0.493000 38 107 0 0 0.007835 0 0 NYAP1 222950 broad.mit.edu 37 7 100086497 100086497 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100086497C>T ENST00000423930.1 + 4 1312 c.1153C>T c.(1153-1155)Cca>Tca p.P385S NYAP1_ENST00000300179.2_Missense_Mutation_p.P385S|NYAP1_ENST00000454988.1_Missense_Mutation_p.P328S Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 385 Pro-rich. GACGCCTCCCCCACCGCCTCC 0.711000 27 64 0 0 0.008361 0 0 MCCC2 64087 broad.mit.edu 37 5 70952669 70952669 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:70952669C>T ENST00000340941.6 + 17 1803 c.1674C>T c.(1672-1674)ttC>ttT p.F558F MCCC2_ENST00000323375.8_Silent_p.F520F NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 558 leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AGACTGACTTCGGTATCTTCA 0.423000 51 71 0 0 0.014410 0 0 CLEC5A 23601 broad.mit.edu 37 7 141629994 141629994 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:141629994G>A ENST00000546910.1 - 7 673 c.477C>T c.(475-477)ttC>ttT p.F159F CLEC5A_ENST00000551012.2_Silent_p.F136F|MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000439991.1_Silent_p.F55F NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 159 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) TCGCACAGTTGAAATTCTGAT 0.393000 30 66 0 0 0.010818 0 0 SPATA31A2 642265 broad.mit.edu 37 9 39888229 39888229 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:39888229G>A ENST00000456183.2 + 4 1245 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K NM_001040065.1 NP_001035154.1 SPATA31 subfamily A, member 2 GCTCTGGCAGGAAAGTTTTTG 0.527000 170 416 0 0 0.014410 0 0 LMX1B 4010 broad.mit.edu 37 9 129458605 129458605 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:129458605G>A ENST00000355497.5 + 8 1103 c.1096G>A c.(1096-1098)Gat>Aat p.D366N LMX1B_ENST00000561065.1_Missense_Mutation_p.D343N|LMX1B_ENST00000373474.4_Missense_Mutation_p.D362N|LMX1B_ENST00000526117.1_Missense_Mutation_p.D355N|LMX1B_ENST00000425646.2_Missense_Mutation_p.D332N NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 339 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 CATCGACAGCGATACCTCCTT 0.652000 Nail-Patella Syndrome 84 220 0 0 0.014410 0 0 VRK2 7444 broad.mit.edu 37 2 58350302 58350302 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:58350302G>A ENST00000435505.2 + 11 1355 c.610G>A c.(610-612)Gaa>Aaa p.E204K VRK2_ENST00000417641.2_Missense_Mutation_p.E204K|VRK2_ENST00000340157.4_Missense_Mutation_p.E204K|VRK2_ENST00000412104.2_Missense_Mutation_p.E204K|VRK2_ENST00000440705.2_Missense_Mutation_p.E181K Q86Y07 VRK2_HUMAN vaccinia related kinase 2 204 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 ACAGTATCAGGAAAATCCTAG 0.383000 34 71 0 0 0.004289 0 0 NETO2 81831 broad.mit.edu 37 16 47117342 47117342 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:47117342G>A ENST00000562435.1 - 9 1752 c.1368C>T c.(1366-1368)tcC>tcT p.S456S NETO2_ENST00000303155.5_Silent_p.S449S NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 456 S -> T (in dbSNP:rs2231983). integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) GAAGTTCCATGGAACTGAGGT 0.507000 HNSCC(25;0.065) 95 200 0 0 0.014410 0 0 LRP1B 53353 broad.mit.edu 37 2 141259393 141259393 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141259393G>A ENST00000389484.3 - 55 9684 c.8713C>T c.(8713-8715)Ccc>Tcc p.P2905S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2905 LDL-receptor class A 20. 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) CCTCCACTGGGAATGCACCTG 0.383000 TSP Lung(27;0.18) 6 46 0 0 0.001168 0 0 LRRC37B 114659 broad.mit.edu 37 17 30380327 30380327 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:30380327C>T ENST00000327564.7 + 12 2966 c.2905C>T c.(2905-2907)Cca>Tca p.P969S LRRC37B_ENST00000341671.7_Missense_Mutation_p.P942S|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P860S|LRRC37B_ENST00000394713.3_Missense_Mutation_p.P891S|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P903S Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 942 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CAAAGACAACCCATCAATATC 0.333000 19 75 0 0 0.014323 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35926016 35926016 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:35926016G>A ENST00000325722.3 - 9 1551 c.1317C>T c.(1315-1317)atC>atT p.I439I KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 439 PKD 2. 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) GGTACTGAACGATTTTATCAT 0.393000 34 112 0 0 0.004289 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554679 140554679 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140554679G>A ENST00000231137.3 + 1 2437 c.2263G>A c.(2263-2265)Gga>Aga p.G755R NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 755 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) GTGCCTGACTGGAGGCTCCGG 0.562000 69 419 0 0 0.014410 0 0 VSIG2 23584 broad.mit.edu 37 11 124617446 124617446 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:124617446G>A ENST00000326621.5 - 7 1069 c.969C>T c.(967-969)ctC>ctT p.L323L NRGN_ENST00000526916.2_3'UTR NM_014312.3 NP_055127.2 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 323 integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) CGACCATAGGGAGCTTGGACT 0.527000 33 67 0 0 0.004878 0 0 RTL1 388015 broad.mit.edu 37 14 101349367 101349367 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:101349367G>A ENST00000534062.1 - 1 1817 c.1759C>T c.(1759-1761)Ctt>Ttt p.L587F MIR127_ENST00000384876.1_RNA NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 587 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GATTCAGAAAGATCATCGGAT 0.567000 35 96 0 0 0.006230 0 0 DPYD 1806 broad.mit.edu 37 1 97564103 97564103 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:97564103G>A ENST00000370192.3 - 21 2808 c.2708C>T c.(2707-2709)gCt>gTt p.A903V DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 903 '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) TGGTGAAAAAGCTACATTTTG 0.358000 36 44 0 0 0.006999 0 0 SLC25A21 89874 broad.mit.edu 37 14 37344171 37344171 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:37344171C>T ENST00000331299.5 - 2 624 c.109G>A c.(109-111)Gtg>Atg p.V37M SLC25A21_ENST00000557611.1_5'UTR|SLC25A21_ENST00000555449.1_Missense_Mutation_p.V37M NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 37 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) CTGGTTTTCACCACATCTAGG 0.378000 9 30 0 0 0.008291 0 0 OR4C3 256144 broad.mit.edu 37 11 48346885 48346885 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:48346885T>A ENST00000319856.4 + 1 414 c.393T>A c.(391-393)ttT>ttA p.F131L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GAGCTCATTTTTTGGGAGGTG 0.468000 20 297 0 0 0.010818 0 0 MAP1A 4130 broad.mit.edu 37 15 43816735 43816735 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:43816735C>T ENST00000382031.1 + 5 3809 c.3778C>T c.(3778-3780)Caa>Taa p.Q1260* MAP1A_ENST00000399453.1_Nonsense_Mutation_p.Q1022*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.Q1022* P78559 MAP1A_HUMAN microtubule-associated protein 1A 1022 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTCTGAGCCCCAAGACTTTCA 0.567000 30 97 0 0 0.009535 0 0 TTN 7273 broad.mit.edu 37 2 179613768 179613768 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179613768C>T ENST00000360870.5 - 46 13581 c.13359G>A c.(13357-13359)ggG>ggA p.G4453G TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 581 Ig-like 24. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACCTTTTTCCCCGGGTAGT 0.348000 15 30 0 0 0.002450 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160264545 160264545 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:160264545G>A ENST00000264431.4 + 16 3179 c.2760G>A c.(2758-2760)atG>atA p.M920I NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 920 Ras-GEF. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CTGCCCTCATGTTCAGGACTC 0.423000 17 102 0 0 0.008871 0 0 XIRP2 129446 broad.mit.edu 37 2 168101234 168101234 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:168101234C>T ENST00000409195.1 + 9 3421 c.3332C>T c.(3331-3333)tCg>tTg p.S1111L XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S889L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1111L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 936 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 GAAAAAGTTTCGTTAATGACC 0.368000 15 32 0 0 0.003163 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030088 95030088 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:95030088C>T ENST00000557004.1 + 2 690 c.269C>T c.(268-270)tCc>tTc p.S90F SERPINA4_ENST00000298841.5_Missense_Mutation_p.S90F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.S90F P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 90 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GCCATGCTTTCCCTGGGGGCC 0.607000 22 65 0 0 0.010504 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567290 142567290 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:142567290G>A ENST00000295992.3 - 3 523 c.217C>T c.(217-219)Ctc>Ttc p.L73F PCOLCE2_ENST00000485766.1_Missense_Mutation_p.L73F NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 73 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 CGGAAATTGAGAACGACTACT 0.453000 64 96 0 0 0.014410 0 0 PAK2 5062 broad.mit.edu 37 3 196555209 196555209 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:196555209C>T ENST00000327134.3 + 15 1830 c.1508C>T c.(1507-1509)gCc>gTc p.A503V NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 503 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CTGAAACTGGCCAAACCGTTA 0.398000 70 384 0 0 0.014410 0 0 RIMS2 9699 broad.mit.edu 37 8 104709396 104709396 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:104709396G>A ENST00000406091.3 + 2 259 c.259G>A c.(259-261)Ggt>Agt p.G87S NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 118 RabBD. 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) AGAACAGAAGGGTGATGCGCC 0.423000 HNSCC(12;0.0054) 12 58 0 0 0.013537 0 0 HOXD1 3231 broad.mit.edu 37 2 177054007 177054007 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:177054007C>T ENST00000331462.4 + 1 701 c.478C>T c.(478-480)Ccc>Tcc p.P160S NM_024501.1 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 160 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) CTTCGGCGAACCCGGCCCTTT 0.682000 5 20 0 0 0.000602 0 0 ZNF443 10224 broad.mit.edu 37 19 12542018 12542018 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:12542018G>A ENST00000301547.5 - 4 1165 c.968C>T c.(967-969)tCc>tTc p.S323F CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 323 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TCTTTGAAGGGAACCGGAAAC 0.433000 52 119 0 0 0.014410 0 0 ZNF658 26149 broad.mit.edu 37 9 40772475 40772475 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:40772475C>T ENST00000602553.1 - 5 3094 c.2800G>A c.(2800-2802)Ggg>Agg p.G934R ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.G934R Q5TYW1 ZN658_HUMAN zinc finger protein 658 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGTTTCTCCCCCGTATGAACT 0.438000 71 196 0 0 0.014410 0 0 OR51F1 256892 broad.mit.edu 37 11 4790669 4790669 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4790669G>A ENST00000380383.1 - 1 499 c.500C>T c.(499-501)cCa>cTa p.P167L OR51F1_ENST00000343430.3_Missense_Mutation_p.P160L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 160 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAAAGTAGTGGCAATATTAG 0.403000 13 94 0 0 0.001855 0 0 FAT3 120114 broad.mit.edu 37 11 92532816 92532816 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:92532816C>T ENST00000298047.6 + 9 6654 c.6637C>T c.(6637-6639)Cca>Tca p.P2213S FAT3_ENST00000525166.1_Missense_Mutation_p.P2063S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2213S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2213 Cadherin 20. 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) TGCCACCAGTCCAGAAGGCCA 0.418000 TCGA Ovarian(4;0.039) 30 40 0 0 0.008361 0 0 MYH2 4620 broad.mit.edu 37 17 10428595 10428595 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10428595C>T ENST00000245503.5 - 33 4992 c.4608G>A c.(4606-4608)aaG>aaA p.K1536K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.K1536K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1536 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 CCACTTGTTTCTTTATTTTCT 0.373000 35 49 0 0 0.004289 0 0 DSP 1832 broad.mit.edu 37 6 7572293 7572293 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:7572293G>A ENST00000379802.3 + 15 2463 c.2122G>A c.(2122-2124)Gag>Aag p.E708K DSP_ENST00000418664.2_Missense_Mutation_p.E708K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 708 Globular 1. 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) GAAAATTAACGAGCTTAAGGT 0.408000 14 40 0 0 0.003163 0 0 CHD5 26038 broad.mit.edu 37 1 6185624 6185624 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:6185624G>A ENST00000262450.3 - 28 4319 c.4220C>T c.(4219-4221)cCc>cTc p.P1407L CHD5_ENST00000378021.1_Missense_Mutation_p.P264L NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1407 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGGGGGCAGGGGCTTGTCCCT 0.637000 11 10 0 0 0.010729 0 0 GUK1 2987 broad.mit.edu 37 1 228334618 228334618 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:228334618C>T ENST00000366718.1 + 4 657 c.230C>T c.(229-231)tCg>tTg p.S77L GUK1_ENST00000366722.1_Missense_Mutation_p.S77L|GUK1_ENST00000366721.1_Missense_Mutation_p.S79L|GUK1_ENST00000366726.1_Missense_Mutation_p.S77L|GUK1_ENST00000366730.1_Missense_Mutation_p.S77L|GUK1_ENST00000312726.4_Missense_Mutation_p.S77L|GUK1_ENST00000366723.1_Missense_Mutation_p.S98L|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366716.1_Missense_Mutation_p.S77L|GUK1_ENST00000391865.3_Missense_Mutation_p.S98L|GUK1_ENST00000366728.2_Missense_Mutation_p.S98L NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 77 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) GCCGAGTTCTCGGGGAACCTG 0.612000 44 158 0 0 0.014410 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381164 58381164 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:58381164G>A ENST00000371015.1 + 8 1710 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K PHACTR3_ENST00000395636.2_Missense_Mutation_p.E374K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E374K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E304K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E412K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E374K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E304K NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 415 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAGCAAACAGGAACTAGAAGA 0.517000 96 261 0 0 0.014410 0 0 EXOC4 60412 broad.mit.edu 37 7 133041196 133041196 + Silent SNP C C T rs35224977 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:133041196C>T ENST00000253861.4 + 6 905 c.876C>T c.(874-876)atC>atT p.I292I EXOC4_ENST00000393161.2_Silent_p.I292I|EXOC4_ENST00000539845.1_Silent_p.I191I NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 292 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) TGAAGAAGATCCCAGAAACAG 0.473000 18 39 0 0 0.006122 0 0 OR1J1 347168 broad.mit.edu 37 9 125240164 125240164 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:125240164G>A ENST00000259357.2 - 1 71 c.42C>T c.(40-42)ctC>ctT p.L14L NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GGAGGCCCAGGAGGAGGAACT 0.562000 53 123 0 0 0.014410 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860280 228860280 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:228860280C>T ENST00000392056.3 - 8 4625 c.4579G>A c.(4579-4581)Gaa>Aaa p.E1527K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1527K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1527 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) GGGTTGTCTTCCTCATTGGCA 0.572000 49 136 0 0 0.014410 0 0 GLCE 26035 broad.mit.edu 37 15 69561416 69561416 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:69561416C>T ENST00000261858.2 + 5 1915 c.1687C>T c.(1687-1689)Cgt>Tgt p.R563C GLCE_ENST00000559420.2_Missense_Mutation_p.R499C NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 563 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 CTATGACCTCCGTCACTTCAT 0.507000 64 167 0 0 0.014410 0 0 TRAV22 28661 broad.mit.edu 37 14 22539320 22539320 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22539320G>A ENST00000390450.3 + 0 313 AAAACCCTTGGGGACAGCTCA 0.483000 29 41 0 0 0.008361 0 0 WDR65 149465 broad.mit.edu 37 1 43675583 43675583 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:43675583C>T ENST00000372492.4 + 11 2249 c.1925C>T c.(1924-1926)aCc>aTc p.T642I WDR65_ENST00000528956.1_Missense_Mutation_p.T642I NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 642 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGTCCTATCACCAAGGTGAGC 0.557000 27 81 0 0 0.003954 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579545 35579545 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:35579545G>A ENST00000373330.1 + 11 2288 c.2114G>A c.(2113-2115)gGa>gAa p.G705E ZMYM1_ENST00000359858.4_Missense_Mutation_p.G705E|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 705 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) CAGCAAATTGGAGTTGATATG 0.353000 49 107 0 0 0.014410 0 0 DUOXA2 405753 broad.mit.edu 37 15 45409340 45409340 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:45409340C>T ENST00000323030.5 + 5 891 c.606C>T c.(604-606)gcC>gcT p.A202A NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 202 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CCACGCCGGCCCCGCTCTACG 0.701000 11 29 0 0 0.010729 0 0 CCDC148 130940 broad.mit.edu 37 2 159033041 159033041 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:159033041C>T ENST00000283233.5 - 13 1934 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K CCDC148_ENST00000409187.1_Missense_Mutation_p.E550K|CCDC148-AS1_ENST00000412781.2_RNA NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 541 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ACCTGCTGTTCATTGTATGTA 0.348000 6 20 0 0 0.001984 0 0 SYNJ2 8871 broad.mit.edu 37 6 158485992 158485992 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:158485992G>A ENST00000355585.4 + 11 1569 c.1494G>A c.(1492-1494)ggG>ggA p.G498G SYNJ2_ENST00000367122.2_Silent_p.G498G|SYNJ2_ENST00000367121.3_Silent_p.G498G|SYNJ2_ENST00000449859.2_Silent_p.G426G NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 498 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CAGACAAAGGGGGCATGCTGC 0.657000 11 16 0 0 0.008291 0 0 TNXB 7148 broad.mit.edu 37 6 32053761 32053761 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32053761C>T ENST00000375244.3 - 7 3115 c.2914G>A c.(2914-2916)Gat>Aat p.D972N TNXB_ENST00000375247.2_Missense_Mutation_p.D972N P22105 TENX_HUMAN tenascin XB 1059 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 CCTGTCTCATCTCTGCCCAGC 0.687000 101 233 0 0 0.014410 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608332 84608332 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:84608332C>T ENST00000344803.2 + 4 2994 c.2947C>T c.(2947-2949)Ctt>Ttt p.L983F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AGTCCCCATCCTTGATCGTCC 0.493000 58 178 0 0 0.014410 0 0 DNAH8 1769 broad.mit.edu 37 6 38834547 38834547 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:38834547C>T ENST00000359357.3 + 45 6191 c.5937C>T c.(5935-5937)atC>atT p.I1979I DNAH8_ENST00000449981.2_Silent_p.I2196I|DNAH8_ENST00000441566.1_Intron 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 ATTTTCAGATCATTATGAGAG 0.299000 16 49 0 0 0.004007 0 0 LILRA2 11027 broad.mit.edu 37 19 55098721 55098721 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:55098721G>A ENST00000251377.3 + 9 1493 c.1360G>A c.(1360-1362)Ggt>Agt p.G454S LILRA2_ENST00000391737.1_Missense_Mutation_p.G425S|LILRA2_ENST00000391738.3_Missense_Mutation_p.G454S|LILRA2_ENST00000251376.3_Missense_Mutation_p.G437S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CATCCGCATGGGTGTGGCTGG 0.577000 37 56 0 0 0.006230 0 0 ASPM 259266 broad.mit.edu 37 1 197097687 197097687 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:197097687G>A ENST00000367409.4 - 10 3125 c.2869C>T c.(2869-2871)Cca>Tca p.P957S ASPM_ENST00000367408.1_Missense_Mutation_p.P207S|ASPM_ENST00000294732.7_Missense_Mutation_p.P957S NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 957 CH 1. 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 TCATCAAATGGTGTCTGAACA 0.393000 28 81 0 0 0.007291 0 0 TRPV5 56302 broad.mit.edu 37 7 142609750 142609750 + Silent SNP G G A rs4252498 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142609750G>A ENST00000265310.1 - 13 2034 c.1686C>T c.(1684-1686)ttC>ttT p.F562F NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 562 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CAATGATGGCGAAGGCGAAGT 0.542000 58 124 0 0 0.014410 0 0 ADH7 131 broad.mit.edu 37 4 100341927 100341927 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:100341927G>A ENST00000437033.2 - 6 1091 c.588C>T c.(586-588)gtC>gtT p.V196V ADH7_ENST00000476959.1_Silent_p.V216V|ADH7_ENST00000209665.4_Silent_p.V208V|ADH7_ENST00000482593.1_Silent_p.V139V P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 208 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) GGCCAAAGACGACGCAAGTGG 0.468000 10 36 0 0 0.006214 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566764 20566764 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:20566764T>A ENST00000329697.6 - 4 591 c.423A>T c.(421-423)aaA>aaT p.K141N ACSM2B_ENST00000414188.2_Missense_Mutation_p.K141N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.K141N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.K141N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.K62N NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 141 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 TGTCAGTGGATTTCATCTGGA 0.438000 18 85 0 0 0.002780 0 0 RSPO2 340419 broad.mit.edu 37 8 108970443 108970443 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:108970443G>A ENST00000276659.5 - 5 1101 c.481C>T c.(481-483)Cgc>Tgc p.R161C RSPO2_ENST00000517781.1_Missense_Mutation_p.R97C|RSPO2_ENST00000378439.2_Missense_Mutation_p.R97C|RSPO2_ENST00000517939.1_Missense_Mutation_p.R94C NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 161 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCACATGTGCGATTATTTCTG 0.383000 27 55 0 0 0.006320 0 0 NPAP1 23742 broad.mit.edu 37 15 24921299 24921299 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:24921299G>A ENST00000329468.2 + 1 759 c.285G>A c.(283-285)agG>agA p.R95R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGGCCATCAGGAAGACACCCA 0.667000 17 51 0 0 0.008871 0 0 MUC17 140453 broad.mit.edu 37 7 100679927 100679927 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100679927C>T ENST00000306151.4 + 3 5294 c.5230C>T c.(5230-5232)Cct>Tct p.P1744S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1744 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) AAACTCAACTCCTAGTGAAGG 0.493000 183 543 0 0 0.014410 0 0 ZNF462 58499 broad.mit.edu 37 9 109734355 109734355 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:109734355G>A ENST00000277225.5 + 8 6786 c.6497G>A c.(6496-6498)aGg>aAg p.R2166K ZNF462_ENST00000441147.2_Missense_Mutation_p.R1072K|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2226K|ZNF462_ENST00000542028.1_Missense_Mutation_p.R123K Q96JM2 ZN462_HUMAN zinc finger protein 462 2166 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 GCCCTGGCAAGGAACAACAGC 0.532000 24 60 0 0 0.003954 0 0 WDR90 197335 broad.mit.edu 37 16 706349 706349 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:706349C>T ENST00000549091.1 + 18 2106 c.2014C>T c.(2014-2016)Cgt>Tgt p.R672C WDR90_ENST00000293879.4_Missense_Mutation_p.R672C NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 672 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CGATGGCCTCCGTGTGCTGTC 0.711000 9 29 0 0 0.004482 0 0 HCN1 348980 broad.mit.edu 37 5 45262603 45262603 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:45262603G>A ENST00000303230.4 - 8 2150 c.2093C>T c.(2092-2094)tCc>tTc p.S698F NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 698 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 GGTGGTGTAGGAGCAGGGTGA 0.637000 22 51 0 0 0.014323 0 0 NRD1 4898 broad.mit.edu 37 1 52293523 52293523 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:52293523G>A ENST00000354831.7 - 7 1278 c.1089C>T c.(1087-1089)atC>atT p.I363I NRD1_ENST00000539524.1_Silent_p.I231I|NRD1_ENST00000544028.1_Silent_p.I163I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.I295I NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 294 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 TTAGTGGGTGGATGAAGAACT 0.353000 22 45 0 0 0.004656 0 0 RIMS1 22999 broad.mit.edu 37 6 73108660 73108660 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:73108660C>T ENST00000264839.7 + 29 4271 c.4271C>T c.(4270-4272)cCa>cTa p.P1424L RIMS1_ENST00000522291.1_Missense_Mutation_p.P1174L|RIMS1_ENST00000538414.1_Missense_Mutation_p.P381L|RIMS1_ENST00000401910.3_Missense_Mutation_p.P895L|RIMS1_ENST00000521978.1_Missense_Mutation_p.P1575L|RIMS1_ENST00000520567.1_Missense_Mutation_p.P1225L|RIMS1_ENST00000425662.2_Missense_Mutation_p.P643L|RIMS1_ENST00000518273.1_Missense_Mutation_p.P1254L|RIMS1_ENST00000517960.1_Missense_Mutation_p.P1358L|RIMS1_ENST00000517827.1_Missense_Mutation_p.P709L|RIMS1_ENST00000348717.5_Missense_Mutation_p.P1358L|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.P102L|RIMS1_ENST00000523963.1_Missense_Mutation_p.P700L|RIMS1_ENST00000491071.2_Missense_Mutation_p.P1364L Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1575 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGTTTAGCTCCATATGTCAAA 0.318000 10 15 0 0 0.008291 0 0 TRPM6 140803 broad.mit.edu 37 9 77418784 77418784 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:77418784C>T ENST00000451710.3 - 15 1894 c.1657G>A c.(1657-1659)Gga>Aga p.G553R TRPM6_ENST00000360774.1_Missense_Mutation_p.G553R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.G553R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G548R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G548R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 553 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTTCTATTTCCTGAGGAGTGT 0.393000 20 80 0 0 0.008871 0 0 WDR35 57539 broad.mit.edu 37 2 20169255 20169255 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:20169255G>A ENST00000345530.3 - 9 1109 c.994C>T c.(994-996)Cga>Tga p.R332* WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R332* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 332 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAATTAGGTCGAATGTTTGCA 0.318000 17 32 0 0 0.004007 0 0 ATP1A2 477 broad.mit.edu 37 1 160097516 160097516 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:160097516C>T ENST00000361216.3 + 8 1012 c.923C>T c.(922-924)tCc>tTc p.S308F ATP1A2_ENST00000392233.3_Missense_Mutation_p.S308F|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 308 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TTCGTGCTCTCCCTCATCCTG 0.572000 122 228 0 0 0.014410 0 0 HRH1 3269 broad.mit.edu 37 3 11301956 11301956 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:11301956G>A ENST00000397056.1 + 3 1424 c.1233G>A c.(1231-1233)agG>agA p.R411R HRH1_ENST00000438284.2_Silent_p.R411R|HRH1_ENST00000431010.2_Silent_p.R411R NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 411 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) ACCGCGAAAGGAAGGCCGCCA 0.478000 155 192 0 0 0.014410 0 0 MYH4 4622 broad.mit.edu 37 17 10358002 10358002 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10358002G>A ENST00000255381.2 - 22 2671 c.2561C>T c.(2560-2562)gCc>gTc p.A854V CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 854 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 CTTCATGTTGGCCATCTCCTT 0.448000 40 78 0 0 0.006999 0 0 OR7C2 26658 broad.mit.edu 37 19 15052452 15052452 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15052452C>T ENST00000248072.3 + 1 152 c.152C>T c.(151-153)tCa>tTa p.S51L NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) ACCATCAGTTCAGACTCCCAC 0.517000 84 96 0 0 0.014410 0 0 IGHG3 3502 broad.mit.edu 37 14 106236177 106236177 + RNA SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106236177C>A ENST00000390551.2 - 0 626 TCCACGCCGTCCACGTACCAC 0.602000 109 279 1.52612e-33 1.56494e-33 0.014410 1 0 TRPM7 54822 broad.mit.edu 37 15 50886692 50886692 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:50886692G>A ENST00000313478.7 - 24 3690 c.3409C>T c.(3409-3411)Cat>Tat p.H1137Y TRPM7_ENST00000560955.1_Missense_Mutation_p.H1137Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1137 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GAAACTATATGGCTAAGAATG 0.348000 50 132 0 0 0.014410 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22554980 22554980 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22554980C>T ENST00000390451.2 + 0 151 GAAACAAAGTCCTCAATCTTT 0.413000 20 43 0 0 0.008871 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24468280 24468280 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:24468280C>T ENST00000382137.3 - 2 295 c.227G>A c.(226-228)cGa>cAa p.R76Q C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.R76Q|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.R76Q|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R76Q NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 76 Collagen-like 1. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 CTACTAACCTCGTTCTCCCTT 0.443000 6 40 0 0 0.008291 0 0 RP1L1 94137 broad.mit.edu 37 8 10468130 10468130 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:10468130C>T ENST00000382483.3 - 4 3701 c.3478G>A c.(3478-3480)Gga>Aga p.G1160R NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1160 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) ACGTCACATCCTGGCCACAGG 0.577000 23 81 0 0 0.014323 0 0 CHD5 26038 broad.mit.edu 37 1 6172243 6172243 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:6172243C>T ENST00000262450.3 - 35 5196 c.5097G>A c.(5095-5097)ggG>ggA p.G1699G CHD5_ENST00000378021.1_Silent_p.G556G NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1699 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ACTTGAATTTCCCCTTCTTGT 0.547000 48 149 0 0 0.014410 0 0 IGFALS 3483 broad.mit.edu 37 16 1842307 1842307 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:1842307C>T ENST00000415638.3 - 2 305 c.226G>A c.(226-228)Ggc>Agc p.G76S IGFALS_ENST00000568221.1_Silent_p.R48R|IGFALS_ENST00000215539.3_Missense_Mutation_p.G38S NM_001146006.1|NM_004970.2 NP_001139478.1|NP_004961.1 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid labile subunit 38 cell adhesion|signal transduction soluble fraction insulin-like growth factor binding endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 8 CACGCTGGGCCCTCGGCTTCC 0.716000 8 42 0 0 0.003080 0 0 PLAA 9373 broad.mit.edu 37 9 26913937 26913937 + Missense_Mutation SNP G G A rs145325113 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:26913937G>A ENST00000397292.3 - 11 1912 c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C PLAA_ENST00000520884.1_Missense_Mutation_p.R499C NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 499 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GGTACATAACGACCAGCACCT 0.353000 28 52 0 0 0.013726 0 0 PDE1C 5137 broad.mit.edu 37 7 31864525 31864525 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:31864525G>A ENST00000396184.3 - 14 1566 c.1362C>T c.(1360-1362)atC>atT p.I454I PDE1C_ENST00000396193.1_Silent_p.I514I|PDE1C_ENST00000321453.7_Silent_p.I454I|PDE1C_ENST00000396182.2_Silent_p.I454I|PDE1C_ENST00000396191.1_Silent_p.I454I NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 454 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) AGGTTTCATCGATTAATGGAC 0.498000 15 88 0 0 0.004007 0 0 GDF2 2658 broad.mit.edu 37 10 48414135 48414135 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:48414135G>A ENST00000249598.1 - 2 892 c.733C>T c.(733-735)Ccc>Tcc p.P245S NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 245 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 p.P245S(1) breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GAACCTGGGGGGACACTGATG 0.572000 38 54 0 0 0.004289 0 0 HEG1 57493 broad.mit.edu 37 3 124748248 124748248 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:124748248G>A ENST00000311127.4 - 2 468 c.401C>T c.(400-402)tCa>tTa p.S134L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 134 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GGACACTGTTGAAAAGTCCTC 0.483000 61 106 0 0 0.014410 0 0 TC2N 123036 broad.mit.edu 37 14 92251508 92251508 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:92251508G>A ENST00000435962.2 - 11 1683 c.1360C>T c.(1360-1362)Cag>Tag p.Q454* TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q390*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q454*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q454* NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 454 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) CTACTAACCTGGCCCACAAAG 0.318000 25 86 0 0 0.004656 0 0 WSCD2 9671 broad.mit.edu 37 12 108642091 108642091 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:108642091G>A ENST00000332082.4 + 10 2487 c.1669G>A c.(1669-1671)Ggt>Agt p.G557S WSCD2_ENST00000547525.1_Missense_Mutation_p.G557S|WSCD2_ENST00000261400.3_Missense_Mutation_p.G577S|WSCD2_ENST00000549903.1_Missense_Mutation_p.G577S Q2TBF2 WSCD2_HUMAN WSC domain containing 2 557 integral to membrane p.G557R(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 GAACCTAACGGGTGTCCCCGA 0.587000 20 49 0 0 0.010504 0 0 NPR3 4883 broad.mit.edu 37 5 32724811 32724811 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:32724811C>T ENST00000265074.8 + 2 1120 c.777C>T c.(775-777)atC>atT p.I259I NPR3_ENST00000415685.2_Silent_p.I43I|NPR3_ENST00000434067.2_Silent_p.I43I|NPR3_ENST00000415167.2_Silent_p.I259I NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 259 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TAGTGGTGATCATGTGTGCGA 0.542000 24 71 0 0 0.014323 0 0 NUDT7 283927 broad.mit.edu 37 16 77775586 77775586 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:77775586C>T ENST00000268533.5 + 4 525 c.456C>T c.(454-456)ttC>ttT p.F152F NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Silent_p.F99F|NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 152 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 TGGCCTATTTCCTGCATCCAC 0.458000 26 115 0 0 0.009535 0 0 RANBP17 64901 broad.mit.edu 37 5 170667965 170667965 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:170667965A>T ENST00000523189.1 + 23 2620 c.2456A>T c.(2455-2457)aAa>aTa p.K819I RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 819 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGCCTCTCAAAAGATCAGATT 0.418000 T TRD@ ALL 37 77 0 0 0.007835 0 0 OR2M2 391194 broad.mit.edu 37 1 248344012 248344012 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248344012C>T ENST00000359682.2 + 1 725 c.725C>T c.(724-726)tCc>tTc p.S242F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACGACCTGTTCCTCTCACCTC 0.493000 61 175 0 0 0.014410 0 0 VPS13D 55187 broad.mit.edu 37 1 12364674 12364674 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12364674C>T ENST00000358136.3 + 26 6458 c.6328C>T c.(6328-6330)Ctt>Ttt p.L2110F VPS13D_ENST00000356315.4_Missense_Mutation_p.L2110F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2110 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACGATGCCTCTTGCTGGAAT 0.567000 30 82 0 0 0.010818 0 0 NUTM1 256646 broad.mit.edu 37 15 34645943 34645943 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:34645943G>A ENST00000537011.1 + 5 1327 c.945G>A c.(943-945)atG>atA p.M315I NUTM1_ENST00000438749.3_Missense_Mutation_p.M305I|NUTM1_ENST00000333756.4_Missense_Mutation_p.M287I NUT midline carcinoma, family member 1 GCAGGTTCATGGAGTTTGAGG 0.517000 25 94 0 0 0.003330 0 0 CCDC63 160762 broad.mit.edu 37 12 111321970 111321970 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:111321970G>A ENST00000308208.5 + 8 1232 c.990G>A c.(988-990)gaG>gaA p.E330E CCDC63_ENST00000552694.1_Silent_p.E251E|CCDC63_ENST00000545036.1_Silent_p.E290E NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 330 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TGGCCAAGGAGGAGAAGAATT 0.532000 29 105 0 0 0.008361 0 0 CNTN4 152330 broad.mit.edu 37 3 2944560 2944560 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:2944560G>A ENST00000397461.1 + 11 1462 c.1077_splice c.e11-1 p.D360_splice CNTN4_ENST00000448906.2_Splice_Site_p.D32_splice|CNTN4_ENST00000427331.1_Splice_Site_p.D360_splice|CNTN4_ENST00000358480.3_Splice_Site_p.D141_splice|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Splice_Site_p.D32_splice|CNTN4_ENST00000418658.1_Splice_Site_p.D360_splice NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 360 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TCTTTCACAGGATAGAATTCA 0.358000 4 41 0 0 0.009096 0 0 CROCCP2 84809 broad.mit.edu 37 1 16958789 16958789 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:16958789G>A ENST00000412962.1 - 0 74 AAGCTTCTCGGTGAGGTCCTT 0.607000 8 77 0 0 0.004482 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795908 100795908 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:100795908G>A ENST00000361529.3 + 6 931 c.853G>A c.(853-855)Gcc>Acc p.A285T SLC25A47_ENST00000557052.1_Missense_Mutation_p.A139T NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 285 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.A285T(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 TTGCTGCCGCGCCTTCCCTGT 0.652000 99 187 0 0 0.014410 0 0 FAM129B 64855 broad.mit.edu 37 9 130287345 130287345 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:130287345G>A ENST00000373312.3 - 4 626 c.413C>T c.(412-414)tCc>tTc p.S138F FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.S125F NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 138 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 ACCTGGTAAGGAGTTGCCAAT 0.602000 40 97 0 0 0.007835 0 0 TTF2 8458 broad.mit.edu 37 1 117618836 117618836 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:117618836C>T ENST00000369466.3 + 6 1354 c.1310C>T c.(1309-1311)cCa>cTa p.P437L NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 437 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CAGGCTCTTCCAGACAAGGGT 0.448000 39 125 0 0 0.007835 0 0 MCTP1 79772 broad.mit.edu 37 5 94248644 94248644 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:94248644C>T ENST00000515393.1 - 9 1387 c.1388G>A c.(1387-1389)aGa>aAa p.R463K MCTP1_ENST00000505078.1_5'UTR|MCTP1_ENST00000429576.2_Missense_Mutation_p.R196K|MCTP1_ENST00000312216.8_Missense_Mutation_p.R242K|MCTP1_ENST00000505208.1_Missense_Mutation_p.R242K NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 463 C2 2. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ATGCGATTTTCTGTGTAGGTC 0.438000 48 111 0 0 0.014410 0 0 HECW1 23072 broad.mit.edu 37 7 43484616 43484616 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:43484616G>A ENST00000395891.1 + 11 2450 c.1845G>A c.(1843-1845)gaG>gaA p.E615E HECW1_ENST00000453890.1_Silent_p.E615E NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 615 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 CCCTGGAAGAGGACAGAGAAG 0.701000 7 24 0 0 0.001984 0 0 CDC27 996 broad.mit.edu 37 17 45234378 45234378 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:45234378C>T ENST00000066544.3 - 7 836 c.743G>A c.(742-744)gGa>gAa p.G248E CDC27_ENST00000531206.1_Missense_Mutation_p.G248E|CDC27_ENST00000527547.1_Missense_Mutation_p.G248E|CDC27_ENST00000446365.2_Missense_Mutation_p.G187E NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 248 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGTTCCTGTTCCCAGTGGGAC 0.378000 7 133 0 0 0.008291 0 0 ZNF384 171017 broad.mit.edu 37 12 6782498 6782498 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:6782498G>A ENST00000396795.1 - 6 1292 c.795C>T c.(793-795)ttC>ttT p.F265F ZNF384_ENST00000319770.3_Silent_p.F249F|ZNF384_ENST00000396799.2_Silent_p.F265F|ZNF384_ENST00000396801.3_Silent_p.F265F|ZNF384_ENST00000355772.4_Silent_p.F210F|ZNF384_ENST00000361959.3_Silent_p.F265F Q8TF68 ZN384_HUMAN zinc finger protein 384 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 AGCTGTTGGCGAAGGTCTTGG 0.547000 T """EWSR1, TAF15 """ ALL 26 85 0 0 0.003330 0 0 DHCR7 1717 broad.mit.edu 37 11 71155062 71155062 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:71155062A>T ENST00000355527.3 - 4 574 c.298T>A c.(298-300)Tat>Aat p.Y100N DHCR7_ENST00000407721.2_Missense_Mutation_p.Y100N NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 100 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CACAAGGTATAGAGCTGGGCG 0.627000 Smith-Lemli-Opitz syndrome 16 21 0 0 0.006122 0 0 TDRD7 23424 broad.mit.edu 37 9 100194369 100194369 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:100194369C>T ENST00000355295.4 + 4 707 c.412C>T c.(412-414)Cct>Tct p.P138S TDRD7_ENST00000422139.2_Missense_Mutation_p.P64S NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 138 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) TGGCAAAAAACCTAATCCAGC 0.388000 23 76 0 0 0.002780 0 0 NTRK3 4916 broad.mit.edu 37 15 88522649 88522649 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:88522649G>A ENST00000317501.3 - 15 1927 c.1766C>T c.(1765-1767)tCc>tTc p.S589F NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.S589F|NTRK3_ENST00000357724.2_Intron NM_001007156.2 NP_001007157.1 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 0 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AAGAGGCTTGGAATGTCCGGG 0.333000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 44 113 0 0 0.013114 0 0 KRT26 353288 broad.mit.edu 37 17 38928343 38928343 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:38928343C>T ENST00000335552.4 - 1 71 c.23G>A c.(22-24)gGa>gAa p.G8E NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 8 Gly-rich.|Head. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CCTCCTGGATCCACCAGAAAG 0.577000 44 133 0 0 0.009718 0 0 ESRP2 80004 broad.mit.edu 37 16 68266285 68266285 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:68266285G>A ENST00000473183.2 - 8 1481 c.943C>T c.(943-945)Cgc>Tgc p.R315C ESRP2_ENST00000565858.1_Missense_Mutation_p.R325C Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 325 RRM 1. mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TCAATATAGCGGACGCCCATG 0.622000 32 88 0 0 0.003755 0 0 SPEG 10290 broad.mit.edu 37 2 220342693 220342693 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:220342693C>T ENST00000312358.7 + 22 5025 c.4893C>T c.(4891-4893)ttC>ttT p.F1631F SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1631 Protein kinase 1. 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) CGGCCAAGTTCATCCCCAGCC 0.637000 90 195 0 0 0.014410 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726755 32726755 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32726755G>A ENST00000435145.2 - 3 579 c.518C>T c.(517-519)tCc>tTc p.S173F HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.S173F|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.S173F Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 173 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTAATGAGGGAGGTGGACAC 0.547000 40 82 0 0 0.009718 0 0 MSH4 4438 broad.mit.edu 37 1 76355016 76355016 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:76355016G>A ENST00000263187.3 + 16 2292 c.2188G>A c.(2188-2190)Gaa>Aaa p.E730K NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 730 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TGATGATATCGAAACAAATTC 0.289000 Mismatch excision repair (MMR) 35 103 0 0 0.004289 0 0 TIMD4 91937 broad.mit.edu 37 5 156381661 156381661 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:156381661C>T ENST00000274532.2 - 2 221 c.165G>A c.(163-165)ggG>ggA p.G55G TIMD4_ENST00000407087.3_Silent_p.G55G NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 55 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTGGTCTTTCCCCCAGCACA 0.532000 58 85 0 0 0.014410 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 26 55 0 0 0.005443 0 0 FRYL 285527 broad.mit.edu 37 4 48584556 48584556 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:48584556C>T ENST00000358350.4 - 20 2548 c.1944G>A c.(1942-1944)tgG>tgA p.W648* FRYL_ENST00000507711.1_Nonsense_Mutation_p.W648*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Nonsense_Mutation_p.W354*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W648*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W648* NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTGCTTGTTTCCACTGATTTA 0.358000 8 35 0 0 0.003080 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1846599 1846599 + Splice_Site SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:1846599C>A ENST00000349830.3 + 15 1743 c.1557_splice c.e15-1 p.Q520_splice ARHGEF10_ENST00000520359.1_Splice_Site_p.Q482_splice|ARHGEF10_ENST00000398564.1_Splice_Site_p.Q545_splice|ARHGEF10_ENST00000262112.6_Splice_Site_p.Q545_splice|ARHGEF10_ENST00000398560.1_Splice_Site_p.Q506_splice|ARHGEF10_ENST00000518288.1_Intron NM_014629.2 NP_055444.2 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 545 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TCCCCCACAGCAGGAACAGGA 0.642000 10 56 3.86212e-05 3.9193e-05 0.008291 1 0 IGDCC3 9543 broad.mit.edu 37 15 65621280 65621280 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:65621280G>A ENST00000327987.4 - 14 2663 c.2412C>T c.(2410-2412)gcC>gcT p.A804A NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 804 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGTAACCCGGGCCGCTGCAG 0.677000 34 86 0 0 0.003271 0 0 TSC22D4 81628 broad.mit.edu 37 7 100075452 100075452 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100075452G>A ENST00000300181.2 - 2 964 c.210C>T c.(208-210)tcC>tcT p.S70S TSC22D4_ENST00000393991.1_Intron NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 70 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCGGAAACGGGAGGAAGGGG 0.716000 6 23 0 0 0.001168 0 0 OR10G3 26533 broad.mit.edu 37 14 22038384 22038384 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22038384G>A ENST00000303532.1 - 1 491 c.492C>T c.(490-492)acC>acT p.T164T NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) GCAGGCGGAAGGTTAGGATGG 0.577000 46 138 0 0 0.013114 0 0 SLC27A6 28965 broad.mit.edu 37 5 128320946 128320946 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:128320946C>T ENST00000262462.4 + 2 1612 c.602C>T c.(601-603)cCt>cTt p.P201L SLC27A6_ENST00000395266.1_Missense_Mutation_p.P201L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P201L Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 201 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) AGCACCTCACCTGATGAGCCC 0.433000 21 31 0 0 0.008871 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866990 140866990 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140866990C>T ENST00000306593.1 + 1 2250 c.2250C>T c.(2248-2250)ctC>ctT p.L750L PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGGATCCTCCGAATCCAGC 0.572000 29 60 0 0 0.006320 0 0 MYBPC1 4604 broad.mit.edu 37 12 102025848 102025848 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:102025848G>A ENST00000549145.1 + 7 552 c.452G>A c.(451-453)gGa>gAa p.G151E MYBPC1_ENST00000547509.1_Missense_Mutation_p.G124E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G112E|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G126E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G138E|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G163E|MYBPC1_ENST00000553190.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G39E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G138E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G125E Q00872 MYPC1_HUMAN myosin binding protein C, slow type 138 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 AACTTTGCAGGAAATTACAGA 0.383000 46 108 0 0 0.014410 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796735 93796735 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:93796735G>A ENST00000315765.9 + 3 485 c.477G>A c.(475-477)ggG>ggA p.G159G NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 159 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TTCCTCCTGGGAAAAACTACA 0.458000 8 8 0 0 0.003080 0 0 FAM208B 54906 broad.mit.edu 37 10 5772729 5772729 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:5772729C>T ENST00000328090.5 + 11 1392 c.767C>T c.(766-768)tCt>tTt p.S256F RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 256 CCTTCAGAGTCTTTAACTCAG 0.443000 53 89 0 0 0.014410 0 0 FAM89A 375061 broad.mit.edu 37 1 231155615 231155615 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:231155615G>A ENST00000366654.4 - 2 583 c.549C>T c.(547-549)tcC>tcT p.S183S MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR NM_198552.2 NP_940954.1 Q96GI7 FA89A_HUMAN family with sequence similarity 89, member A 183 endometrium(1)|upper_aerodigestive_tract(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CCCTCTAGATGGACTCCAGAA 0.577000 22 35 0 0 0.014323 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558177 140558177 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140558177G>A ENST00000239444.2 + 1 807 c.562G>A c.(562-564)Gat>Aat p.D188N NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 188 Cadherin 2. 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) CAAACGCAGTGATGGCAGGAA 0.493000 36 236 0 0 0.009718 0 0 AGAP2 116986 broad.mit.edu 37 12 58125379 58125379 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:58125379C>T ENST00000257897.3 - 9 1077 c.992G>A c.(991-993)gGa>gAa p.G331E AGAP2_ENST00000547588.1_Missense_Mutation_p.G667E NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 667 Interaction with PLCG1 (By similarity). axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 TGTTGTCTCTCCCCGACTATC 0.532000 27 81 0 0 0.006320 0 0 CADPS 8618 broad.mit.edu 37 3 62501818 62501818 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:62501818C>T ENST00000383710.4 - 16 2846 c.2497G>A c.(2497-2499)Gag>Aag p.E833K CADPS_ENST00000357948.3_Missense_Mutation_p.E816K|CADPS_ENST00000283269.9_Missense_Mutation_p.E833K NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 833 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) GTTTTTACCTCCTCTTGTGGC 0.418000 24 84 0 0 0.003954 0 0 CACNA1G 8913 broad.mit.edu 37 17 48697069 48697069 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:48697069C>T ENST00000354983.4 + 32 6077 c.5705C>T c.(5704-5706)tCc>tTc p.S1902F CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1918F|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1891F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1925F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1925F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1936F|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1936F|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1902F|CACNA1G_ENST00000502264.1_Intron NM_198396.2 NP_938406.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1936 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) GACACCATATCCCTGCTGATC 0.662000 14 28 0 0 0.003163 0 0 RYR1 6261 broad.mit.edu 37 19 38934370 38934370 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:38934370C>T ENST00000355481.4 + 5 489 c.358C>T c.(358-360)Ctc>Ttc p.L120F RYR1_ENST00000360985.3_Missense_Mutation_p.L120F|RYR1_ENST00000359596.3_Missense_Mutation_p.L120F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 120 MIR 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCTGAGCTGCCTCACCACCTC 0.632000 31 75 0 0 0.003271 0 0 IGSF1 3547 broad.mit.edu 37 X 130409177 130409177 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:130409177C>T ENST00000370904.1 - 23 4151 c.3241G>A c.(3241-3243)Gaa>Aaa p.E1081K IGSF1_ENST00000370910.1_Missense_Mutation_p.E1081K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1095K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E1090K Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1090 Ig-like C2-type 11. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TCTGGCAGTTCCCCTTGACAC 0.547000 100 154 0 0 0.014410 0 0 CELSR1 9620 broad.mit.edu 37 22 46859931 46859931 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:46859931G>A ENST00000262738.3 - 2 3855 c.3856C>T c.(3856-3858)Ctg>Ttg p.L1286L CELSR1_ENST00000395964.1_Silent_p.L1286L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1286 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) GTCCGATTCAGGTAGATCTGC 0.632000 88 122 0 0 0.014410 0 0 GABRB2 2561 broad.mit.edu 37 5 160886667 160886667 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:160886667G>A ENST00000274547.2 - 5 638 c.421C>T c.(421-423)Cgc>Tgc p.R141C GABRB2_ENST00000353437.6_Missense_Mutation_p.R141C|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R78C|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141C NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 141 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 p.R141C(1) 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) GGATGCAGGCGAATCATGCGG 0.448000 8 33 0 0 0.004482 0 0 STPG2 285555 broad.mit.edu 37 4 98480257 98480257 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:98480257C>T ENST00000295268.3 - 11 1421 c.1332G>A c.(1330-1332)gaG>gaA p.E444E RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 CTTTCTTTTTCTCCTGGGATA 0.269000 36 71 0 0 0.005524 0 0 MIR520B 574473 broad.mit.edu 37 19 54204530 54204530 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:54204530C>T ENST00000384989.1 + 0 50 NR_030195.1 GAAAGTGCTTCCTTTTAGAGG 0.428000 19 33 0 0 0.007413 0 0 ZNF98 148198 broad.mit.edu 37 19 22574340 22574340 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22574340C>T ENST00000357774.5 - 4 1818 c.1697G>A c.(1696-1698)aGa>aAa p.R566K NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R566I(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGCACAATTTCTTTTATATTT 0.328000 11 9 0 0 0.010729 0 0 DDX46 9879 broad.mit.edu 37 5 134102613 134102613 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:134102613C>T ENST00000452510.2 + 3 371 c.213C>T c.(211-213)tcC>tcT p.S71S DDX46_ENST00000354283.4_Silent_p.S71S NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 71 Arg-rich. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCAGACGTTCCAGAAGTAGAG 0.478000 17 20 0 0 0.006122 0 0 TOM1 10043 broad.mit.edu 37 22 35728996 35728996 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:35728996C>T ENST00000411850.1 + 9 1047 c.922C>T c.(922-924)Cag>Tag p.Q308* TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q275*|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q270*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q263*|TOM1_ENST00000449058.2_Nonsense_Mutation_p.Q308* NM_001135732.1 NP_001129204.1 O60784 TOM1_HUMAN target of myb1 (chicken) 308 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 CCGAACAGGCCAGACCACCAA 0.507000 89 238 0 0 0.014410 0 0 CCNF 899 broad.mit.edu 37 16 2495514 2495514 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:2495514C>T ENST00000397066.4 + 10 1073 c.985C>T c.(985-987)Ctg>Ttg p.L329L NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 329 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) CTTCACAAGCCTGTGCCTGCA 0.607000 45 89 0 0 0.014410 0 0 RAG1 5896 broad.mit.edu 37 11 36594964 36594964 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:36594964C>T ENST00000299440.5 + 2 222 c.110C>T c.(109-111)tCc>tTc p.S37F NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 37 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CGGGTGAGATCCTTTGAAAAG 0.458000 Familial Hemophagocytic Lymphohistiocytosis 24 64 0 0 0.003954 0 0 FGD2 221472 broad.mit.edu 37 6 36990057 36990057 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:36990057C>T ENST00000274963.8 + 13 1540 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 457 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 GCAGTGGGTCCGGGACAAGAT 0.652000 OREG0017395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 28 0 0 0.004482 0 0 AMHR2 269 broad.mit.edu 37 12 53818100 53818100 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:53818100C>T ENST00000257863.4 + 2 158 c.78C>T c.(76-78)ttC>ttT p.F26F AMHR2_ENST00000379791.3_Silent_p.F26F|AMHR2_ENST00000550311.1_Silent_p.F26F NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 26 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCTGTGTGTTCTTTGAGGCCC 0.567000 23 70 0 0 0.014323 0 0 CADPS 8618 broad.mit.edu 37 3 62501819 62501819 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:62501819C>T ENST00000383710.4 - 16 2845 c.2496G>A c.(2494-2496)gaG>gaA p.E832E CADPS_ENST00000357948.3_Silent_p.E815E|CADPS_ENST00000283269.9_Silent_p.E832E NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 832 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) TTTTTACCTCCTCTTGTGGCA 0.418000 23 85 0 0 0.003330 0 0 FAM129C 199786 broad.mit.edu 37 19 17662690 17662690 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:17662690G>A ENST00000332386.5 + 16 2077 c.1939G>A c.(1939-1941)Gga>Aga p.G647R FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000600871.1_Missense_Mutation_p.G565R|FAM129C_ENST00000599164.1_Missense_Mutation_p.G616R|FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.G580R|FAM129C_ENST00000352727.3_Missense_Mutation_p.G611R|FAM129C_ENST00000449408.2_Intron NM_001098524.1 NP_001091994.1 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 0 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GCCTTCTCCAGgaacattccg 0.517000 22 91 0 0 0.003330 0 0 CNNM4 26504 broad.mit.edu 37 2 97427280 97427280 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:97427280C>T ENST00000377075.2 + 1 642 c.544C>T c.(544-546)Ctc>Ttc p.L182F NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 182 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane p.L182V(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GTTCCTGCCTCTCTGGCTGCA 0.622000 169 387 0 0 0.014410 0 0 FRYL 285527 broad.mit.edu 37 4 48604129 48604129 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:48604129G>A ENST00000358350.4 - 13 1547 c.943C>T c.(943-945)Cca>Tca p.P315S FRYL_ENST00000507711.1_Missense_Mutation_p.P315S|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.P21S|FRYL_ENST00000503238.1_Missense_Mutation_p.P315S|FRYL_ENST00000537810.1_Missense_Mutation_p.P315S NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTAATTAGTGGATATAAAGCC 0.303000 24 34 0 0 0.003954 0 0 TTLL10 254173 broad.mit.edu 37 1 1115637 1115637 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:1115637C>T ENST00000379290.1 + 6 596 c.423C>T c.(421-423)ctC>ctT p.L141L TTLL10_ENST00000379288.3_Silent_p.L68L|TTLL10_ENST00000379289.1_Silent_p.L141L Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 141 protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGAGGGGCTCCTGCTGGGGG 0.697000 4 20 0 0 0.009096 0 0 ZNF622 90441 broad.mit.edu 37 5 16463741 16463741 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:16463741G>A ENST00000308683.2 - 2 862 c.736C>T c.(736-738)Ctt>Ttt p.L246F NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 246 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ATGGCACCAAGGGGTGGGCCT 0.478000 121 296 0 0 0.014410 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48605597 48605597 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:48605597G>A ENST00000323776.5 + 16 2664 c.2502G>A c.(2500-2502)aaG>aaA p.K834K MYCBPAP_ENST00000436259.2_Silent_p.K797K NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 797 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) TGCCTGAGAAGGAGACCATCT 0.532000 9 44 0 0 0.006214 0 0 SGMS1 259230 broad.mit.edu 37 10 52067844 52067844 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:52067844G>A ENST00000361781.2 - 10 1919 c.960C>T c.(958-960)ttC>ttT p.F320F SGMS1_ENST00000429490.1_Silent_p.F151F NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 326 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 AGAGAATACAGAAGATTCCAA 0.488000 25 41 0 0 0.004656 0 0 EYA1 2138 broad.mit.edu 37 8 72127655 72127655 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:72127655G>C ENST00000340726.3 - 16 2203 c.1564C>G c.(1564-1566)Cca>Gca p.P522A EYA1_ENST00000303824.7_Missense_Mutation_p.P516A|EYA1_ENST00000419131.1_Missense_Mutation_p.P487A|EYA1_ENST00000388741.2_Missense_Mutation_p.P488A|EYA1_ENST00000388742.4_Missense_Mutation_p.P522A|EYA1_ENST00000388743.2_Missense_Mutation_p.P521A|EYA1_ENST00000388740.3_Missense_Mutation_p.P489A NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 522 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTTTCTATTGGAAATACAATT 0.353000 17 67 0 0 0.004990 0 0 COL8A2 1296 broad.mit.edu 37 1 36564614 36564614 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:36564614C>T ENST00000397799.1 - 4 892 c.668G>A c.(667-669)gGt>gAt p.G223D COL8A2_ENST00000303143.4_Missense_Mutation_p.G223D|COL8A2_ENST00000481785.1_Missense_Mutation_p.G158D P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 223 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) GCCGGGGGCACCCCCCTGCCC 0.726000 14 27 0 0 0.004990 0 0 PARVA 55742 broad.mit.edu 37 11 12535050 12535050 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:12535050C>T ENST00000538608.1 + 9 918 c.782C>T c.(781-783)cCa>cTa p.P261L PARVA_ENST00000539723.1_Intron|PARVA_ENST00000550549.1_Intron|PARVA_ENST00000334956.8_Intron Q9NVD7 PARVA_HUMAN parvin, alpha 0 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) TCCCCCTTGCCATCCATGTAC 0.557000 10 12 0 0 0.006214 0 0 LRP1 4035 broad.mit.edu 37 12 57572248 57572248 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57572248G>A ENST00000243077.3 + 27 4934 c.4468G>A c.(4468-4470)Gag>Aag p.E1490K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1490 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTACGGGGGGGAGGTCTACTG 0.592000 36 130 0 0 0.004289 0 0 ZNF823 55552 broad.mit.edu 37 19 11833694 11833694 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:11833694G>A ENST00000341191.6 - 4 808 c.655C>T c.(655-657)Ccg>Tcg p.P219S ZNF823_ENST00000545749.1_Missense_Mutation_p.P37S NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CATTCATACGGTTTCTCTCCA 0.403000 HNSCC(68;0.2) 61 164 0 0 0.014410 0 0 GRIN2A 2903 broad.mit.edu 37 16 10273956 10273956 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:10273956C>T ENST00000396573.2 - 3 622 c.313G>A c.(313-315)Gac>Aac p.D105N GRIN2A_ENST00000330684.3_Missense_Mutation_p.D105N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D105N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D105N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D105N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 105 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) GCCTCCTGGTCCGTGTCGTCC 0.597000 29 148 0 0 0.007291 0 0 HSD11B1 3290 broad.mit.edu 37 1 209878363 209878363 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:209878363G>A ENST00000367028.2 + 2 245 c.76G>A c.(76-78)Gaa>Aaa p.E26K HSD11B1_ENST00000261465.1_Missense_Mutation_p.E26K|HSD11B1_ENST00000367027.3_Missense_Mutation_p.E26K|RP1-28O10.1_ENST00000441672.1_RNA NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 26 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) TGCAAACGAGGAATTCAGACC 0.463000 51 82 0 0 0.014410 0 0 NXNL1 115861 broad.mit.edu 37 19 17571610 17571610 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:17571610C>T ENST00000301944.2 - 1 153 c.69G>A c.(67-69)gaG>gaA p.E23E CTD-2521M24.10_ENST00000594663.1_5'UTR NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 23 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 TGACCTCAGCCTCCGTATCCA 0.622000 98 151 0 0 0.014410 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662505 662505 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:662505C>T ENST00000266383.5 + 14 1429 c.1416C>T c.(1414-1416)ctC>ctT p.L472L NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 472 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ACTACCGCCTCCGAAGCCTGC 0.637000 58 207 0 0 0.014410 0 0 WARS2 10352 broad.mit.edu 37 1 119575560 119575560 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:119575560C>T ENST00000235521.4 - 6 1083 c.1057G>A c.(1057-1059)Gtg>Atg p.V353M WARS2_ENST00000537870.1_Missense_Mutation_p.V259M|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 353 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AATTTCTTCACCTCCTGGCAC 0.408000 95 95 0 0 0.014410 0 0 TACC2 10579 broad.mit.edu 37 10 123989947 123989947 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:123989947G>A ENST00000369005.1 + 16 8459 c.8119G>A c.(8119-8121)Gat>Aat p.D2707N TACC2_ENST00000358010.1_Missense_Mutation_p.D853N|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000360561.3_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.D797N|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.D853N|TACC2_ENST00000260733.3_Missense_Mutation_p.D785N|TACC2_ENST00000334433.3_Missense_Mutation_p.D2707N|TACC2_ENST00000369004.3_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2707 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) CAGCCACCAGGATGCCAAGGT 0.602000 49 65 0 0 0.014410 0 0 CHCHD1 118487 broad.mit.edu 37 10 75541846 75541846 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:75541846A>G ENST00000372837.3 + 1 42 c.13A>G c.(13-15)Agc>Ggc p.S5G CHCHD1_ENST00000372833.5_Missense_Mutation_p.S5G Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 5 nucleus breast(1) 1 Prostate(51;0.0112) GGCGACACCCAGCCTGCGGGG 0.677000 51 90 0 0 0.014410 0 0 INTS1 26173 broad.mit.edu 37 7 1535815 1535815 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:1535815G>A ENST00000389470.4 - 13 2071 c.2072C>T c.(2071-2073)gCc>gTc p.A691V INTS1_ENST00000404767.3_Missense_Mutation_p.A563V Q8N201 INT1_HUMAN integrator complex subunit 1 563 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TTTGTCCCAGGCGATGCCGGC 0.657000 31 77 0 0 0.013726 0 0 CORIN 10699 broad.mit.edu 37 4 47625936 47625936 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:47625936G>A ENST00000273857.4 - 18 2344 c.2345C>T c.(2344-2346)tCt>tTt p.S782F CORIN_ENST00000508498.1_Missense_Mutation_p.S643F|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.S715F|CORIN_ENST00000505909.1_Missense_Mutation_p.S745F NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 782 SRCR. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 ACACAGAAGAGAAATTTTACT 0.368000 23 49 0 0 0.004656 0 0 ADAP1 11033 broad.mit.edu 37 7 959629 959629 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:959629C>T ENST00000265846.5 - 4 583 c.364G>A c.(364-366)Gag>Aag p.E122K ADAP1_ENST00000449296.2_Missense_Mutation_p.E50K|ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Missense_Mutation_p.E133K NM_006869.2 NP_006860.1 O75689 ADAP1_HUMAN ArfGAP with dual PH domains 1 122 Arf-GAP. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1) 6 TCCTGCTTCTCCGGGTAGATG 0.667000 8 36 0 0 0.004482 0 0 USP49 25862 broad.mit.edu 37 6 41774066 41774066 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:41774066G>A ENST00000394253.3 - 3 985 c.656C>T c.(655-657)gCg>gTg p.A219V USP49_ENST00000373009.3_Missense_Mutation_p.A219V|USP49_ENST00000297229.2_Missense_Mutation_p.A219V|USP49_ENST00000373006.1_Missense_Mutation_p.A219V|USP49_ENST00000373010.1_Missense_Mutation_p.A219V Q70CQ1 UBP49_HUMAN ubiquitin specific peptidase 49 219 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) agccgggcccgcgtcgcgggg 0.766000 9 24 0 0 0.004482 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552747 140552747 + Missense_Mutation SNP G G A rs76427364 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140552747G>A ENST00000231137.3 + 1 505 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 111 Cadherin 1. 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) GTTGTTATTGGAAAAACCTTT 0.433000 70 88 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13871743 13871743 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13871743G>A ENST00000265104.4 - 23 3632 c.3528C>T c.(3526-3528)ttC>ttT p.F1176F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1176 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L1174fs*8(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) CTAGGTTTTGGAAATAGAGAA 0.383000 Kartagener syndrome 14 39 0 0 0.003163 0 0 SLC22A13 9390 broad.mit.edu 37 3 38317122 38317122 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38317122C>T ENST00000311856.4 + 6 1030 c.981C>T c.(979-981)caC>caT p.H327H SLC22A13_ENST00000450935.2_3'UTR NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 327 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGTTCAGACACCCCCAGCTCC 0.592000 39 77 0 0 0.008740 0 0 FREM1 158326 broad.mit.edu 37 9 14748411 14748411 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:14748411C>T ENST00000380881.4 - 32 6602 c.5787G>A c.(5785-5787)ggG>ggA p.G1929G FREM1_ENST00000422223.2_Silent_p.G1928G|FREM1_ENST00000380894.1_Silent_p.G464G|FREM1_ENST00000380880.3_Silent_p.G1928G Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1928 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTTGCCATTCCCACGGGTCC 0.438000 10 25 0 0 0.006214 0 0 SALL2 6297 broad.mit.edu 37 14 21993631 21993631 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:21993631G>A ENST00000327430.3 - 2 525 c.231C>T c.(229-231)gcC>gcT p.A77A SALL2_ENST00000538754.1_Silent_p.A75A|SALL2_ENST00000450879.2_Silent_p.A75A|SALL2_ENST00000317492.5_Silent_p.A77A NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 77 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GTTCAGAGGAGGCCGAAGAGT 0.567000 58 118 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179447831 179447831 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179447831T>C ENST00000589042.1 - 313 65923 c.65699A>G c.(65698-65700)gAt>gGt p.D21900G TTN_ENST00000591111.1_Missense_Mutation_p.D20259G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12835G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12960G|TTN_ENST00000342992.6_Missense_Mutation_p.D19332G|TTN_ENST00000342175.6_Missense_Mutation_p.D13027G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20259 Fibronectin type-III 59. 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) CAGTGTGCCATCTTTTTTCCA 0.463000 3 16 0 0 0.000602 0 0 MAGEA5 4104 broad.mit.edu 37 X 151284172 151284172 + RNA SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:151284172T>A ENST00000509345.2 - 0 239 CCTTTGGTGCTCCTCTAGGGC 0.537000 17 35 0 0 0.006122 0 0 CNOT1 23019 broad.mit.edu 37 16 58555201 58555201 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:58555201A>G ENST00000317147.5 - 48 7270 c.6938T>C c.(6937-6939)aTt>aCt p.I2313T CNOT1_ENST00000245138.4_Missense_Mutation_p.I1164T|CNOT1_ENST00000569240.1_Missense_Mutation_p.I2308T NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2313 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CCTATTTACAATCAACCGTTC 0.368000 51 110 0 0 0.014410 0 0 OR13C8 138802 broad.mit.edu 37 9 107331532 107331532 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:107331532C>T ENST00000335040.1 + 1 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 28 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 CAGTTTTCTTCGTTCTAATTT 0.428000 71 226 0 0 0.014410 0 0 PCSK5 5125 broad.mit.edu 37 9 78784740 78784740 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:78784740G>A ENST00000545128.1 + 13 2278 c.1740G>A c.(1738-1740)agG>agA p.R580R PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 580 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCAGCTAAGGAACTTTAAGA 0.423000 20 82 0 0 0.002780 0 0 ATP13A5 344905 broad.mit.edu 37 3 193040314 193040314 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:193040314G>A ENST00000342358.4 - 15 1841 c.1724C>T c.(1723-1725)tCa>tTa p.S575L NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 575 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TATGATGTTTGAAACTGACGT 0.323000 79 106 0 0 0.014410 0 0 CCDC63 160762 broad.mit.edu 37 12 111317782 111317782 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:111317782G>A ENST00000308208.5 + 6 804 c.562G>A c.(562-564)Gag>Aag p.E188K CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Missense_Mutation_p.E109K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E148K NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 188 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CCTACGATTTGAGAAGGCTGC 0.473000 71 186 0 0 0.014410 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885236 24885236 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24885236C>T ENST00000382554.3 + 9 4599 c.4281C>T c.(4279-4281)atC>atT p.I1427I NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1427 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TTCCGTTTATCTACCGAACCT 0.602000 56 135 0 0 0.014410 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878429 24878429 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24878429C>T ENST00000382554.3 + 4 1747 c.1429C>T c.(1429-1431)Cca>Tca p.P477S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 477 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTCGGATCTCCCACAGATAGG 0.512000 13 53 0 0 0.001855 0 0 TMEM159 57146 broad.mit.edu 37 16 21172581 21172581 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:21172581C>T ENST00000233047.4 + 2 546 c.78C>T c.(76-78)tcC>tcT p.S26S TMEM159_ENST00000451578.2_Silent_p.S26S|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572599.1_Silent_p.S26S|TMEM159_ENST00000261388.3_Silent_p.S26S|TMEM159_ENST00000572258.1_Silent_p.S26S Q96B96 TM159_HUMAN transmembrane protein 159 26 integral to membrane large_intestine(3)|lung(2)|ovary(1) 6 GBM - Glioblastoma multiforme(48;0.0972) TGATAGACTCCTTCCAGAATA 0.398000 11 76 0 0 0.008291 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:71275418C>T ENST00000399575.2 + 3 547 c.373C>T c.(373-375)Cct>Tct p.P125S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 52 151 0 0 0.014410 0 0 GABRE 2564 broad.mit.edu 37 X 151128445 151128445 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:151128445G>A ENST00000370325.1 - 6 703 c.650C>T c.(649-651)tCc>tTc p.S217F GABRE_ENST00000393914.3_Missense_Mutation_p.S24F|GABRE_ENST00000370328.3_Missense_Mutation_p.S217F P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 217 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTCAGGATAGGAAACTGGAAA 0.443000 34 76 0 0 0.006230 0 0 RP1 6101 broad.mit.edu 37 8 55538174 55538174 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:55538174G>A ENST00000220676.1 + 4 1880 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 578 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) AATTGTGGAGGAAGATGTAGT 0.343000 26 110 0 0 0.005443 0 0 AIM2 9447 broad.mit.edu 37 1 159035904 159035904 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:159035904C>T ENST00000368130.4 - 4 900 c.612G>A c.(610-612)aaG>aaA p.K204K AIM2_ENST00000481829.1_Intron NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 204 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TAATTATTCTCTTTGGAATGA 0.358000 69 105 0 0 0.014410 0 0 MID2 11043 broad.mit.edu 37 X 107170186 107170186 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:107170186C>T ENST00000262843.6 + 10 2639 c.2091C>T c.(2089-2091)tcC>tcT p.S697S RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Silent_p.S667S NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 697 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GGAACAAATCCCTAATGATCC 0.448000 29 40 0 0 0.009535 0 0 RGPD4 285190 broad.mit.edu 37 2 108487311 108487311 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:108487311G>A ENST00000408999.3 + 20 2928 c.2851G>A c.(2851-2853)Gat>Aat p.D951N RGPD4_ENST00000354986.4_Missense_Mutation_p.D951N NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 951 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CCAGGCTCAGGATATTAGTGG 0.408000 43 121 0 0 0.014410 0 0 BAZ1A 11177 broad.mit.edu 37 14 35234256 35234256 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:35234256G>A ENST00000360310.1 - 22 4087 c.3520C>T c.(3520-3522)Cat>Tat p.H1174Y BAZ1A_ENST00000358716.4_Missense_Mutation_p.H1142Y|BAZ1A_ENST00000382422.2_Missense_Mutation_p.H1174Y NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1174 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CAGTAGGTATGATGACCCCTA 0.363000 21 58 0 0 0.010504 0 0 DNAH17 8632 broad.mit.edu 37 17 76528663 76528663 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:76528663G>A ENST00000389840.5 - 20 3139 c.3015C>T c.(3013-3015)ttC>ttT p.F1005F DNAH17_ENST00000585328.1_Silent_p.F1002F 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) CATATATCAGGAAATTCTTCA 0.542000 12 26 0 0 0.001855 0 0 TYW1B 441250 broad.mit.edu 37 7 72081675 72081675 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:72081675G>A ENST00000438125.1 - 0 1380 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GTGCTATCAGGAGGCAATTAG 0.448000 22 139 0 0 0.002780 0 0 GAS2 2620 broad.mit.edu 37 11 22707215 22707215 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:22707215G>A ENST00000454584.2 + 3 452 c.145_splice c.e3-1 p.G49_splice GAS2_ENST00000278187.3_Splice_Site_p.G49_splice|GAS2_ENST00000433790.1_Splice_Site_p.G49_splice|GAS2_ENST00000533092.1_3'UTR NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 49 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 TTATTTCAGGGAAGGAGATTA 0.343000 14 66 0 0 0.004990 0 0 DDX60L 91351 broad.mit.edu 37 4 169300898 169300898 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:169300898G>A ENST00000511577.1 - 31 4447 c.4200C>T c.(4198-4200)tcC>tcT p.S1400S DDX60L_ENST00000260184.7_Silent_p.S1400S Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1400 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) GGAGCTGCAAGGAAAACAAAA 0.368000 7 39 0 0 0.001984 0 0 STXBP5L 9515 broad.mit.edu 37 3 121001168 121001168 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:121001168C>T ENST00000273666.6 + 20 2437 c.2166C>T c.(2164-2166)atC>atT p.I722I STXBP5L_ENST00000492541.1_Silent_p.I722I|STXBP5L_ENST00000497029.1_Silent_p.I722I|STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000471454.1_Intron NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 722 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CGAAACGGATCCGTACTTCCT 0.403000 9 35 0 0 0.008291 0 0 PKNOX2 63876 broad.mit.edu 37 11 125237848 125237848 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:125237848C>T ENST00000298282.9 + 5 465 c.194C>T c.(193-195)gCc>gTc p.A65V PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 65 nucleus sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) GACCCCCAGGCCCAGCTGGAG 0.637000 15 47 0 0 0.004990 0 0 RRP1B 23076 broad.mit.edu 37 21 45096182 45096182 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:45096182C>T ENST00000340648.4 + 7 696 c.579C>T c.(577-579)atC>atT p.I193I NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 193 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) TCAAGTTTATCGATCCATTCT 0.438000 57 115 0 0 0.014410 0 0 KCND3 3752 broad.mit.edu 37 1 112525136 112525136 + Silent SNP C C T rs74392775 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:112525136C>T ENST00000369697.1 - 1 282 c.213G>A c.(211-213)aaG>aaA p.K71K KCND3_ENST00000302127.4_Silent_p.K71K|KCND3_ENST00000315987.2_Silent_p.K71K Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 71 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) AGAAGAACTCCTTCTCCGTGC 0.607000 98 97 0 0 0.014410 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554476 20554476 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:20554476C>T ENST00000329697.6 - 11 1558 c.1390G>A c.(1390-1392)Gat>Aat p.D464N ACSM2B_ENST00000565232.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D385N NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 464 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.D464N(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TTAATGATATCATCTGCCCGT 0.507000 32 475 0 0 0.004878 0 0 COL6A3 1293 broad.mit.edu 37 2 238280629 238280629 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:238280629G>A ENST00000295550.4 - 9 4483 c.4031C>T c.(4030-4032)tCg>tTg p.S1344L COL6A3_ENST00000353578.4_Missense_Mutation_p.S1138L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1144L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1138L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S737L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1143L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S937L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S1138L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1344 Nonhelical region.|VWFA 7. 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) CTTTCCAGACGAGATGAGGAC 0.612000 33 49 0 0 0.012213 0 0 UBR1 197131 broad.mit.edu 37 15 43339380 43339380 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:43339380G>A ENST00000290650.4 - 14 1725 c.1647C>T c.(1645-1647)ttC>ttT p.F549F UBR1_ENST00000382177.2_Silent_p.F549F NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 549 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACCACTCTTGGAACATGAGTA 0.363000 68 179 0 0 0.014410 0 0 SEPT2 4735 broad.mit.edu 37 2 242265433 242265433 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:242265433C>T ENST00000391973.2 + 3 563 c.35C>T c.(34-36)cCa>cTa p.P12L SEPT2_ENST00000360051.3_Missense_Mutation_p.P12L|SEPT2_ENST00000401990.1_Missense_Mutation_p.P12L|SEPT2_ENST00000402092.2_Missense_Mutation_p.P12L|SEPT2_ENST00000391971.2_Missense_Mutation_p.P12L|SEPT2_ENST00000407971.1_5'UTR NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 12 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TTTATAAATCCAGAAACACCT 0.353000 33 63 0 0 0.013726 0 0 COL2A1 1280 broad.mit.edu 37 12 48393853 48393853 + Nonsense_Mutation SNP C C T rs121912896 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:48393853C>T ENST00000380518.3 - 2 305 c.141G>A c.(139-141)tgG>tgA p.W47* COL2A1_ENST00000337299.6_Intron NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 47 VWFC. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GCTCCGGCTTCCACACATCCT 0.572000 28 66 0 0 0.009535 0 0 PPP2R3B 28227 broad.mit.edu 37 X 302650 302650 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:302650C>T ENST00000390665.3 - 8 1071 c.1053G>A c.(1051-1053)atG>atA p.M351I NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 351 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 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) TCCTGTCTATCATCTTGGTAG 0.647000 68 113 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179644017 179644017 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179644017C>T ENST00000589042.1 - 23 4126 c.3902G>A c.(3901-3903)aGa>aAa p.R1301K TTN_ENST00000591111.1_Missense_Mutation_p.R1301K|TTN_ENST00000460472.2_Missense_Mutation_p.R1255K|TTN_ENST00000360870.5_Missense_Mutation_p.R1301K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1255K|TTN_ENST00000342992.6_Missense_Mutation_p.R1301K|TTN_ENST00000342175.6_Missense_Mutation_p.R1255K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1301 Ig-like 5. 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) CTCAAGAATTCTATAATTCTT 0.358000 8 41 0 0 0.004482 0 0 OR6S1 341799 broad.mit.edu 37 14 21109809 21109809 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:21109809G>A ENST00000320704.3 - 1 41 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTGCCAGGACGAACTCTGTTG 0.453000 75 188 0 0 0.014410 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645393 122645393 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:122645393C>A ENST00000195173.4 - 9 1285 c.982G>T c.(982-984)Ggc>Tgc p.G328C SEMA5B_ENST00000357599.3_Missense_Mutation_p.G328C|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G382C Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 328 Sema. cell differentiation|nervous system development integral to membrane receptor activity p.G328S(1)|p.G382S(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) AGGAATCGGCCCCCCACGTCA 0.612000 15 63 0.000422831 0.000428711 0.004007 1 0 MEPE 56955 broad.mit.edu 37 4 88766263 88766263 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:88766263G>A ENST00000497649.2 + 6 549 c.171G>A c.(169-171)aaG>aaA p.K57K MEPE_ENST00000395102.4_Silent_p.K112K|MEPE_ENST00000361056.3_Silent_p.K81K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000424957.3_Silent_p.K81K|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000511670.1_3'UTR Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 81 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GTGAGAATAAGGGAAGTAGTA 0.338000 10 35 0 0 0.008291 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014041 75014041 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:75014041G>A ENST00000379727.3 - 3 1041 c.843C>T c.(841-843)atC>atT p.I281I CYP1A1_ENST00000564596.1_Silent_p.I20I|CYP1A1_ENST00000395049.4_Silent_p.I281I|CYP1A1_ENST00000395048.2_Silent_p.I281I|CYP1A1_ENST00000567032.1_Silent_p.I281I P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 281 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GGCTGTCTGTGATGTCCCGGA 0.512000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 41 120 0 0 0.014410 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44430653 44430653 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:44430653C>T ENST00000372622.3 + 7 582 c.514C>T c.(514-516)Cct>Tct p.P172S NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 172 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) AGGACGGCCTCCTGGACACAT 0.602000 42 124 0 0 0.013114 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963128 88963128 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:88963128G>A ENST00000333190.4 + 4 1441 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 278 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCTTACCAAGGAAAAAGAGGT 0.358000 HNSCC(36;0.09) 9 33 0 0 0.006214 0 0 DMBT1 1755 broad.mit.edu 37 10 124380843 124380843 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:124380843G>A ENST00000338354.3 + 41 5274 c.5168G>A c.(5167-5169)gGc>gAc p.G1723D DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1095D|DMBT1_ENST00000368909.3_Missense_Mutation_p.G1723D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1095D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1713D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1713D Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1723 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCCACAAAGGCTGGCTCACC 0.602000 70 91 0 0 0.014410 0 0 CD96 10225 broad.mit.edu 37 3 111263947 111263947 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:111263947C>T ENST00000352690.4 + 2 356 c.116C>T c.(115-117)tCt>tTt p.S39F CD96_ENST00000283285.5_Missense_Mutation_p.S39F|CD96_ENST00000438817.2_Missense_Mutation_p.S39F NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 39 Ig-like V-type 1. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 ACACTTGGCTCTGATGTCAAC 0.403000 Opitz Trigonocephaly syndrome 72 92 0 0 0.014410 0 0 ITIH2 3698 broad.mit.edu 37 10 7745461 7745461 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:7745461C>T ENST00000358415.4 + 1 230 c.64C>T c.(64-66)Ccc>Tcc p.P22S ITIH2_ENST00000379587.4_Missense_Mutation_p.P22S|ITIH2_ENST00000480387.1_3'UTR NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 22 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTTCGAAATCCCCATAAATGG 0.408000 21 44 0 0 0.003330 0 0 NLRP11 204801 broad.mit.edu 37 19 56329292 56329292 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56329292C>T ENST00000443188.1 - 4 959 c.249G>A c.(247-249)agG>agA p.R83R NLRP11_ENST00000360133.3_Silent_p.R83R|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Silent_p.R83R|NLRP11_ENST00000589093.1_Silent_p.R83R NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 83 DAPIN. 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) CAATGATCTTCCTACAAAGAT 0.443000 51 65 0 0 0.014410 0 0 DCP1B 196513 broad.mit.edu 37 12 2064598 2064598 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:2064598C>T ENST00000280665.6 - 6 730 c.651_splice c.e6+1 p.Q217_splice DCP1B_ENST00000540622.1_Splice_Site_p.Q91_splice|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Splice_Site_p.Q115_splice NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 217 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) AACTCCGTACCTGGTTGGGCT 0.443000 85 198 0 0 0.014410 0 0 PSPC1 55269 broad.mit.edu 37 13 20279916 20279916 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:20279916C>T ENST00000338910.4 - 8 1431 c.1272G>A c.(1270-1272)atG>atA p.M424I NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 424 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TGTTCATATTCATACCCATCA 0.483000 29 130 0 0 0.003755 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660215 77660215 + Nonsense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:77660215G>T ENST00000296043.6 + 5 1842 c.889G>T c.(889-891)Gaa>Taa p.E297* NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 297 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) TGGCCTCCTCGAAGGGATGAG 0.557000 17 92 3.32936e-07 3.38467e-07 0.006122 1 0 AMPD3 272 broad.mit.edu 37 11 10518431 10518431 + Silent SNP C C T rs78473994 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:10518431C>T ENST00000444303.2 + 9 1498 c.1026C>T c.(1024-1026)ttC>ttT p.F342F AMPD3_ENST00000396554.3_Silent_p.F510F NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 501 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGCCCCTTTTCAAGGCCACTA 0.507000 52 187 0 0 0.014410 0 0 PDHA1 5160 broad.mit.edu 37 X 19369387 19369387 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:19369387C>T ENST00000545074.1 + 4 446 c.301C>T c.(301-303)Cct>Tct p.P101S PDHA1_ENST00000540249.1_Intron|PDHA1_ENST00000379805.3_Intron|PDHA1_ENST00000422285.2_Intron|PDHA1_ENST00000379806.5_Intron NM_000284.3|NM_001173455.1 NP_000275.1|NP_001166926.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 97 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) GTTTCTCCTTCCTCTAACACA 0.473000 49 68 0 0 0.014410 0 0 SLC35F3 148641 broad.mit.edu 37 1 234367362 234367362 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:234367362G>A ENST00000366618.3 + 3 628 c.483G>A c.(481-483)agG>agA p.R161R SLC35F3_ENST00000366617.3_Silent_p.R92R NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 92 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TGACCTTCAGGAAGTTCGACG 0.602000 91 300 0 0 0.014410 0 0 NPY4R 5540 broad.mit.edu 37 10 47087410 47087410 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:47087410C>T ENST00000374312.1 + 3 1046 c.627C>T c.(625-627)caC>caT p.H209H NPY4R_ENST00000395716.1_Silent_p.H209H NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 CACTGGCTCACCACCGCACCA 0.577000 41 145 0 0 0.013114 0 0 ITGAL 3683 broad.mit.edu 37 16 30507442 30507442 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:30507442C>T ENST00000356798.6 + 14 1708 c.1528C>T c.(1528-1530)Ctg>Ttg p.L510L ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.L427L|ITGAL_ENST00000568012.1_3'UTR NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 510 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) AGTCTCAGAGCTGCAGGGGGA 0.562000 62 131 0 0 0.014410 0 0 HTR3B 9177 broad.mit.edu 37 11 113802575 113802575 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:113802575C>T ENST00000260191.2 + 4 611 c.354C>T c.(352-354)atC>atT p.I118I HTR3B_ENST00000537778.1_Silent_p.I107I NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 118 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) CCCCCGATATCATCATCAATG 0.453000 42 57 0 0 0.014410 0 0 SATB2 23314 broad.mit.edu 37 2 200137014 200137014 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:200137014C>T ENST00000443023.1 - 10 3410 c.1945G>A c.(1945-1947)Gag>Aag p.E649K SATB2_ENST00000457245.1_Missense_Mutation_p.E708K|SATB2_ENST00000417098.1_Missense_Mutation_p.E708K|SATB2_ENST00000428695.1_Missense_Mutation_p.E590K|SATB2_ENST00000260926.5_Missense_Mutation_p.E708K Q9UPW6 SATB2_HUMAN SATB homeobox 2 708 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 TACATCTCCTCGGAGCCTTCC 0.532000 20 68 0 0 0.008871 0 0 TLN2 83660 broad.mit.edu 37 15 62985100 62985100 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:62985100C>T ENST00000561311.1 + 12 1405 c.1175C>T c.(1174-1176)tCc>tTc p.S392F TLN2_ENST00000306829.6_Missense_Mutation_p.S392F Q9Y4G6 TLN2_HUMAN talin 2 392 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GAGCAGATATCCCAGCTGATT 0.408000 46 111 0 0 0.014410 0 0 TSSK2 23617 broad.mit.edu 37 22 19119041 19119041 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:19119041C>T ENST00000399635.2 + 1 721 c.129C>T c.(127-129)atC>atT p.I43I DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 43 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) TCAAGATCATCGACCGCAAGA 0.493000 45 88 0 0 0.014410 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657705 72657705 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:72657705C>T ENST00000425256.1 - 0 2206 NR_002164.1 ccatcgctttcatttctggaa 0.478000 91 144 0 0 0.014410 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240382 160240382 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:160240382C>T ENST00000275275.5 + 18 1668 c.1497C>T c.(1495-1497)ctC>ctT p.L499L PNLDC1_ENST00000392167.3_Silent_p.L510L NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 499 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACTGCCTGCTCCAGTAAGTGA 0.632000 15 21 0 0 0.004990 0 0 CD300C 10871 broad.mit.edu 37 17 72537790 72537790 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:72537790C>T ENST00000330793.1 - 4 973 c.613G>A c.(613-615)Gtg>Atg p.V205M NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 205 cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 GGTCTGTTCACCCAGAGGACG 0.592000 36 82 0 0 0.003271 0 0 HDC 3067 broad.mit.edu 37 15 50546362 50546362 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:50546362C>T ENST00000267845.3 - 6 1087 c.685G>A c.(685-687)Gag>Aag p.E229K HDC_ENST00000543581.1_Missense_Mutation_p.E229K NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 229 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) TTGTCTTCCTCGATGGCCTTC 0.473000 35 87 0 0 0.003755 0 0 OR2AK2 391191 broad.mit.edu 37 1 248128657 248128657 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248128657C>T ENST00000366480.3 + 1 123 c.24C>T c.(22-24)tcC>tcT p.S8S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) atgtcatctCCTTTGATATTT 0.338000 31 65 0 0 0.009535 0 0 SPTA1 6708 broad.mit.edu 37 1 158617436 158617436 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158617436C>T ENST00000368148.3 - 27 3969 c.3789G>A c.(3787-3789)caG>caA p.Q1263Q SPTA1_ENST00000368147.3_Silent_p.Q1263Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1263 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) GCTCCATTTTCTGTCTCTGCA 0.537000 26 69 0 0 0.005443 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133661578 133661578 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:133661578G>A ENST00000310926.4 - 11 1769 c.1496C>T c.(1495-1497)tCc>tTc p.S499F SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S423F NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 499 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TGCTGAAGCGGATCCCCCGGT 0.522000 47 162 0 0 0.014410 0 0 TSPAN18 90139 broad.mit.edu 37 11 44941525 44941525 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:44941525G>A ENST00000340160.3 + 7 829 c.590G>A c.(589-591)gGa>gAa p.G197E TSPAN18_ENST00000520358.2_Missense_Mutation_p.G197E NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 197 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 TGCCTCCTGGGAAGGAGCCTA 0.637000 54 97 0 0 0.014410 0 0 CCDC60 160777 broad.mit.edu 37 12 119937890 119937890 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:119937890G>A ENST00000327554.2 + 6 1030 c.565G>A c.(565-567)Ggt>Agt p.G189S RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 189 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) CAGGGACCCGGGTGGAAGCAA 0.423000 30 146 0 0 0.003755 0 0 TSTD2 158427 broad.mit.edu 37 9 100380128 100380128 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:100380128G>A ENST00000341170.4 - 4 896 c.514C>T c.(514-516)Ctt>Ttt p.L172F TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000375163.1_5'UTR|TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000484708.1_5'UTR NM_139246.4 NP_640339.4 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 172 large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 15 CAGTAATAAAGGAGCACCTCC 0.483000 16 65 0 0 0.003163 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184567 72184567 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:72184567G>A ENST00000537465.1 - 5 734 c.576C>T c.(574-576)atC>atT p.I192I PMFBP1_ENST00000355636.6_Silent_p.I47I|PMFBP1_ENST00000237353.10_Silent_p.I192I Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 192 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CTAGTAACTCGATGTTGCTCA 0.527000 35 147 0 0 0.004289 0 0 GTF2I 2969 broad.mit.edu 37 7 74159269 74159269 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:74159269C>T ENST00000324896.4 + 21 2312 c.1923C>T c.(1921-1923)ttC>ttT p.F641F GTF2I_ENST00000353920.4_Silent_p.F621F|GTF2I_ENST00000416070.1_Silent_p.F600F|GTF2I_ENST00000346152.4_Silent_p.F620F|GTF2I_ENST00000438130.2_3'UTR NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 641 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 AAATCAAGTTCGTTGTTAAAA 0.413000 25 218 0 0 0.007291 0 0 SETBP1 26040 broad.mit.edu 37 18 42532252 42532252 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:42532252C>T ENST00000282030.5 + 4 3243 c.2947C>T c.(2947-2949)Ccc>Tcc p.P983S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 983 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) GAATCCATATCCCAGCATTTT 0.453000 Schinzel-Giedion syndrome 52 64 0 0 0.014410 0 0 MAGI1 9223 broad.mit.edu 37 3 65346841 65346841 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:65346841G>A ENST00000483466.1 - 23 3995 c.3754C>T c.(3754-3756)Cct>Tct p.P1252S MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.P1156S|MAGI1_ENST00000402939.2_Intron NM_004742.2 NP_004733.2 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 0 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GTCATGCCAGGGAAGGAAGGA 0.483000 51 79 0 0 0.014410 0 0 SLC7A2 6542 broad.mit.edu 37 8 17419559 17419559 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:17419559C>T ENST00000470360.1 + 12 1845 c.1728C>T c.(1726-1728)ttC>ttT p.F576F SLC7A2_ENST00000494857.1_Silent_p.F537F|SLC7A2_ENST00000004531.10_Silent_p.F577F|SLC7A2_ENST00000398090.3_Silent_p.F576F|SLC7A2_ENST00000522656.1_Silent_p.F537F P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 537 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) TTGTTCTCTTCGTTGCCATCG 0.512000 9 66 0 0 0.008291 0 0 PPIL4 85313 broad.mit.edu 37 6 149833342 149833342 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:149833342A>G ENST00000340881.2 - 2 607 c.74T>C c.(73-75)gTt>gCt p.V25A PPIL4_ENST00000253329.2_Silent_p.C392C Q8WUA2 PPIL4_HUMAN peptidylprolyl isomerase (cyclophilin)-like 4 0 PPIase cyclophilin-type. protein folding nucleus nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 13 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885) TCTCTTCAGAACAGTGATGGG 0.363000 51 93 0 0 0.014410 0 0 ANO2 57101 broad.mit.edu 37 12 5860133 5860133 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:5860133C>T ENST00000327087.8 - 11 1118 c.1047G>A c.(1045-1047)aaG>aaA p.K349K ANO2_ENST00000546188.1_Silent_p.K350K|ANO2_ENST00000356134.5_Silent_p.K350K Q9NQ90 ANO2_HUMAN anoctamin 2 354 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 CTCCAAAATACTTTCTGGAAA 0.333000 4 18 0 0 0.009096 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2415735 2415735 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:2415735G>A ENST00000332578.3 + 10 1539 c.1539G>A c.(1537-1539)ggG>ggA p.G513G NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 513 Peptidase S1 2. 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) CTGCCTCCGGGGAGGTGCCCT 0.667000 36 60 0 0 0.007835 0 0 HTT 3064 broad.mit.edu 37 4 3201562 3201562 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:3201562C>T ENST00000355072.5 + 41 5617 c.5472C>T c.(5470-5472)tcC>tcT p.S1824S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1824 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGGCTCGTTCCATGATCACCA 0.597000 33 69 0 0 0.013726 0 0 PCSK1 5122 broad.mit.edu 37 5 95728818 95728818 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:95728818C>T ENST00000311106.3 - 14 2386 c.2149G>A c.(2149-2151)Gaa>Aaa p.E717K CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.E670K|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 717 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGACTGTCTTCAGAGTCTTTA 0.423000 67 126 0 0 0.014410 0 0 BEND2 139105 broad.mit.edu 37 X 18213556 18213556 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:18213556T>C ENST00000380033.4 - 7 1172 c.1040A>G c.(1039-1041)aAa>aGa p.K347R BEND2_ENST00000380030.3_Intron NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 347 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AAGTATAATTTTCTCAGCTAT 0.368000 17 45 0 0 0.004990 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673378 22673378 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:22673378C>T ENST00000390289.2 + 0 176 LL22NC03-80A10.6_ENST00000426066.1_RNA TAAGGTGGTACCAACAAAAGC 0.542000 119 211 0 0 0.014410 0 0 NTS 4922 broad.mit.edu 37 12 86276074 86276074 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:86276074C>T ENST00000256010.6 + 4 541 c.434C>T c.(433-435)cCt>cTt p.P145L NTS_ENST00000551529.1_Missense_Mutation_p.P70L NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 145 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 AGAAAAATTCCTTATATTCTG 0.313000 52 147 0 0 0.014410 0 0 M1AP 130951 broad.mit.edu 37 2 74808912 74808912 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:74808912C>T ENST00000290536.5 - 5 774 c.658G>A c.(658-660)Gag>Aag p.E220K M1AP_ENST00000409585.1_Missense_Mutation_p.E220K|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.E220K NM_138804.3 NP_620159.2 meiosis 1 associated protein AAGAAAATCTCCATGCTGACG 0.398000 59 124 0 0 0.014410 0 0 MRAP2 112609 broad.mit.edu 37 6 84799011 84799011 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:84799011A>G ENST00000257776.4 + 4 564 c.429A>G c.(427-429)caA>caG p.Q143Q NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 143 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GTGACGTCCAACTCCAGGAAG 0.522000 23 47 0 0 0.003954 0 0 ZNF493 284443 broad.mit.edu 37 19 21606448 21606448 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:21606448C>T ENST00000392288.2 + 4 1096 c.987C>T c.(985-987)gcC>gcT p.A329A CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.A201A NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GTGGCAAAGCCTTTAGTATTT 0.343000 15 63 0 0 0.002450 0 0 OR51S1 119692 broad.mit.edu 37 11 4869671 4869671 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4869671G>A ENST00000322101.2 - 1 843 c.768C>T c.(766-768)ctC>ctT p.L256L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 256 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) TATAGAAGAGGAGCACTGCAG 0.512000 14 71 0 0 0.002450 0 0 ZNF816 125893 broad.mit.edu 37 19 53432467 53432467 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:53432467C>T ENST00000549216.1 - 2 254 c.184G>A c.(184-186)Gaa>Aaa p.E62K ZNF816_ENST00000434371.2_Missense_Mutation_p.E131K|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF321P_ENST00000391777.3_Missense_Mutation_p.E131K NM_001202473.1 NP_001189402.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 131 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TCTTTGATTTCTGTCATGGGT 0.408000 132 201 0 0 0.014410 0 0 NSD1 64324 broad.mit.edu 37 5 176696740 176696740 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:176696740C>T ENST00000439151.2 + 16 5486 c.5441C>T c.(5440-5442)cCt>cTt p.P1814L NSD1_ENST00000354179.4_Missense_Mutation_p.P1545L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1545L|NSD1_ENST00000361032.4_Missense_Mutation_p.P1711L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1814 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) CGAGTCTTCCCTTACATGGAG 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 46 70 0 0 0.014410 0 0 STK11IP 114790 broad.mit.edu 37 2 220473424 220473424 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:220473424C>T ENST00000456909.1 + 15 1813 c.1723C>T c.(1723-1725)Cgc>Tgc p.R575C STK11IP_ENST00000295641.10_Missense_Mutation_p.R586C Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 586 Glu-rich. protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAAGCAGCTCGCACCTTGGA 0.652000 22 53 0 0 0.010504 0 0 LRRN1 57633 broad.mit.edu 37 3 3888048 3888048 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:3888048C>T ENST00000319331.3 + 2 2484 c.1723C>T c.(1723-1725)Cca>Tca p.P575S SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 575 Fibronectin type-III. 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) TGCCAGGGTCCCAGTCGATGT 0.433000 81 288 0 0 0.014410 0 0 BCAR1 9564 broad.mit.edu 37 16 75269071 75269071 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:75269071G>A ENST00000546196.1 - 5 3291 c.1639C>T c.(1639-1641)Ctg>Ttg p.L547L BCAR1_ENST00000542031.2_Silent_p.L574L|BCAR1_ENST00000538440.2_Silent_p.L576L|BCAR1_ENST00000535626.2_Silent_p.L428L|BCAR1_ENST00000420641.3_Silent_p.L594L|BCAR1_ENST00000418647.3_Silent_p.L622L|BCAR1_ENST00000393420.6_Silent_p.L594L|BCAR1_ENST00000162330.5_Silent_p.L576L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000393422.2_Silent_p.L594L P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 576 Ser-rich. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCCGGTCCAGGTCCTCAAGG 0.677000 23 40 0 0 0.004656 0 0 RP1L1 94137 broad.mit.edu 37 8 10466107 10466107 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:10466107C>T ENST00000382483.3 - 4 5724 c.5501G>A c.(5500-5502)gGc>gAc p.G1834D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1834 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) GGCCTCTATGCCTTCGGCCCC 0.637000 145 325 0 0 0.014410 0 0 MORC1 27136 broad.mit.edu 37 3 108782032 108782032 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:108782032C>T ENST00000232603.5 - 10 944 c.862G>A c.(862-864)Gaa>Aaa p.E288K MORC1_ENST00000483760.1_Missense_Mutation_p.E288K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 288 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTTTAACTTCATCTTTAAAT 0.308000 49 83 0 0 0.014410 0 0 LTBP1 4052 broad.mit.edu 37 2 33622247 33622247 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:33622247C>T ENST00000404816.2 + 33 5235 c.4882C>T c.(4882-4884)Ctc>Ttc p.L1628F LTBP1_ENST00000354476.3_Missense_Mutation_p.L1629F|LTBP1_ENST00000407925.1_Missense_Mutation_p.L1302F|LTBP1_ENST00000272273.5_Missense_Mutation_p.L526F|LTBP1_ENST00000390003.4_Missense_Mutation_p.L1303F|LTBP1_ENST00000402934.1_Missense_Mutation_p.L1247F|LTBP1_ENST00000418533.2_Missense_Mutation_p.L1260F|LTBP1_ENST00000404525.1_Missense_Mutation_p.L1249F Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1628 EGF-like 17. 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) ATGCGGCATCCTCAATGGATG 0.463000 20 43 0 0 0.010504 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973834 120973834 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:120973834G>A ENST00000273666.6 + 16 1805 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K STXBP5L_ENST00000492541.1_Missense_Mutation_p.E512K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E512K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E512K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E512K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 512 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AATTGTAGAGGAAGACCCATT 0.363000 26 87 0 0 0.004656 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673292 141673292 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:141673292G>A ENST00000547270.1 - 1 281 c.198C>T c.(196-198)ttC>ttT p.F66F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 66 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GTCCATGCAGGAAAAGCCGGC 0.493000 35 102 0 0 0.003271 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885043 88885043 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:88885043C>T ENST00000319675.3 - 1 1253 c.1157G>A c.(1156-1158)cGg>cAg p.R386Q NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 386 p.R386Q(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAGGTCCTCCCGGACAGCCAT 0.547000 19 43 0 0 0.010504 0 0 TRAK2 66008 broad.mit.edu 37 2 202264134 202264134 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:202264134G>A ENST00000332624.3 - 5 874 c.446C>T c.(445-447)tCc>tTc p.S149F TRAK2_ENST00000430254.1_Missense_Mutation_p.S149F NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 149 early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 CTCCTCCAGGGATTCGTTCTG 0.388000 14 39 0 0 0.003163 0 0 PLA2G6 8398 broad.mit.edu 37 22 38525490 38525490 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:38525490G>A ENST00000332509.3 - 8 1340 c.1157C>T c.(1156-1158)cCt>cTt p.P386L PLA2G6_ENST00000335539.3_Missense_Mutation_p.P386L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.P386L NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 386 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 24 Melanoma(58;0.045) Quinacrine(DB01103) TAGGAATGTAGGAGTCTCCCC 0.557000 58 106 0 0 0.014410 0 0 OC90 729330 broad.mit.edu 37 8 133049730 133049730 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:133049730G>A ENST00000262283.5 - 12 1321 c.1222C>T c.(1222-1224)Cct>Tct p.P408S OC90_ENST00000254627.3_Missense_Mutation_p.P212S|OC90_ENST00000443356.2_Missense_Mutation_p.P212S|OC90_ENST00000603859.1_Missense_Mutation_p.P212S Q02509 OC90_HUMAN otoconin 90 212 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGCTCCACAGGAACCACTGGA 0.537000 3 10 0 0 0.004672 0 0 DNAH10 196385 broad.mit.edu 37 12 124293432 124293432 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:124293432C>T ENST00000409039.3 + 18 2747 c.2722C>T c.(2722-2724)Cat>Tat p.H908Y NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 908 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GATCATCCTTCATCCCAACAC 0.478000 188 422 0 0 0.014410 0 0 WHSC1 7468 broad.mit.edu 37 4 1920067 1920067 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:1920067C>T ENST00000503128.1 + 5 1334 c.1127C>T c.(1126-1128)tCc>tTc p.S376F WHSC1_ENST00000382891.5_Missense_Mutation_p.S376F|WHSC1_ENST00000382892.2_Missense_Mutation_p.S376F|WHSC1_ENST00000382895.3_Missense_Mutation_p.S376F|WHSC1_ENST00000514045.1_Missense_Mutation_p.S376F|WHSC1_ENST00000420906.2_Missense_Mutation_p.S376F|WHSC1_ENST00000508803.1_Missense_Mutation_p.S376F|WHSC1_ENST00000398261.1_Missense_Mutation_p.S376F O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 376 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.S376Y(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) ATGGCAGAATCCTCAGGAGTC 0.512000 T IGH@ MM 26 81 0 0 0.005443 0 0 THSD7B 80731 broad.mit.edu 37 2 138400076 138400076 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:138400076G>A ENST00000409968.1 + 21 3996 c.3818G>A c.(3817-3819)cGa>cAa p.R1273Q THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1245Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1276Q 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) AGCCGGACTCGATTTATCATT 0.498000 42 102 0 0 0.014410 0 0 AP2B1 163 broad.mit.edu 37 17 33966762 33966762 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:33966762C>T ENST00000262325.7 + 11 1973 c.1420C>T c.(1420-1422)Cac>Tac p.H474Y AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.H474Y|AP2B1_ENST00000592545.1_Missense_Mutation_p.H436Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.H417Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.H474Y|AP2B1_ENST00000312678.8_Missense_Mutation_p.H474Y NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 474 axon guidance|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|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) GGAGGGTTTTCACGATGAAAG 0.418000 32 70 0 0 0.005524 0 0 LPL 4023 broad.mit.edu 37 8 19816795 19816795 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:19816795A>C ENST00000311322.8 + 7 1513 c.1043A>C c.(1042-1044)cAt>cCt p.H348P NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 348 Heparin-binding (By similarity).|PLAT. fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GTAAAGATTCATTTTTCTGGG 0.423000 15 26 0 0 0.004990 0 0 SMARCD2 6603 broad.mit.edu 37 17 61910669 61910669 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:61910669G>C ENST00000448276.2 - 11 1694 c.1429C>G c.(1429-1431)Cga>Gga p.R477G SMARCD2_ENST00000323347.10_Missense_Mutation_p.R429G|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R402G NM_001098426.1 NP_001091896.1 Q92925 SMRD2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 477 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 TTGAGGTCTCGGCGCTGGGAA 0.542000 24 75 0 0 0.002780 0 0 MMP12 4321 broad.mit.edu 37 11 102743833 102743833 + RNA SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:102743833C>A ENST00000532855.1 - 0 208 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TAAAATTTTTCTAAGTATCTC 0.328000 12 17 3.07112e-06 3.12028e-06 0.010729 1 0 CD163 9332 broad.mit.edu 37 12 7649613 7649613 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7649613C>T ENST00000359156.4 - 5 1097 c.895G>A c.(895-897)Gat>Aat p.D299N CD163_ENST00000396620.3_Missense_Mutation_p.D299N|CD163_ENST00000432237.2_Missense_Mutation_p.D299N|CD163_ENST00000541972.1_Missense_Mutation_p.D287N NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 299 SRCR 3. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.D299H(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 ACAGCAGCATCGTAACTGTCC 0.502000 30 47 0 0 0.007291 0 0 NELL2 4753 broad.mit.edu 37 12 44915951 44915951 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:44915951G>A ENST00000429094.2 - 18 2511 c.2007C>T c.(2005-2007)ttC>ttT p.F669F NELL2_ENST00000551601.1_Silent_p.F621F|NELL2_ENST00000333837.4_Silent_p.F692F|NELL2_ENST00000437801.2_Silent_p.F719F|NELL2_ENST00000549027.1_Silent_p.F668F|NELL2_ENST00000452445.2_Silent_p.F669F|NELL2_ENST00000395487.2_Silent_p.F668F NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 669 VWFC 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GACACATAACGAATCCATTCT 0.443000 17 47 0 0 0.007413 0 0 OR51B2 79345 broad.mit.edu 37 11 5345133 5345133 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5345133G>A ENST00000328813.2 - 1 449 c.395C>T c.(394-396)tCc>tTc p.S132F HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGAGAATGGAAGCATATCT 0.418000 11 54 0 0 0.010729 0 0 VPS13B 157680 broad.mit.edu 37 8 100479699 100479699 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:100479699G>A ENST00000395996.1 + 24 3614 c.3503G>A c.(3502-3504)gGa>gAa p.G1168E VPS13B_ENST00000358544.2_Missense_Mutation_p.G1168E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1168E Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1168 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) ACCCTTCTTGGAAAACAAGTG 0.443000 44 113 0 0 0.014410 0 0 PDE10A 10846 broad.mit.edu 37 6 165957015 165957015 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:165957015G>A ENST00000366882.1 - 3 233 c.79C>T c.(79-81)Ccc>Tcc p.P27S PDE10A_ENST00000539869.2_Missense_Mutation_p.P37S|PDE10A_ENST00000354448.4_Missense_Mutation_p.P27S Q9Y233 PDE10_HUMAN phosphodiesterase 10A 27 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AATACCTGGGGGTGAAGAGAA 0.358000 27 42 0 0 0.006320 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885042 88885042 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:88885042C>T ENST00000319675.3 - 1 1254 c.1158G>A c.(1156-1158)cgG>cgA p.R386R NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 386 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAAGGTCCTCCCGGACAGCCA 0.547000 19 42 0 0 0.010504 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453891 84453891 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:84453891C>T ENST00000377084.2 - 1 2637 c.1752G>A c.(1750-1752)agG>agA p.R584R NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 584 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) TGGGCGAGATCCTAGCGTACA 0.537000 14 24 0 0 0.003163 0 0 OR4K14 122740 broad.mit.edu 37 14 20483307 20483307 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20483307C>T ENST00000305045.2 - 1 45 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G16R(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) GTGCAGAGTCCATGCAACACA 0.373000 27 77 0 0 0.005443 0 0 XIRP1 165904 broad.mit.edu 37 3 39226003 39226003 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:39226003C>T ENST00000340369.3 - 2 5162 c.4934G>A c.(4933-4935)aGg>aAg p.R1645K XIRP1_ENST00000421646.1_Missense_Mutation_p.R328K|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1645 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) CTCCTGCCTCCTGGTGGAAGG 0.542000 57 200 0 0 0.014410 0 0 TCL6 27004 broad.mit.edu 37 14 96137710 96137710 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:96137710C>T ENST00000467865.1 + 0 2067 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) ctgtctcattcgcctctggat 0.468000 T TRA@ T-ALL 15 48 0 0 0.010504 0 0 OR8K3 219473 broad.mit.edu 37 11 56085890 56085890 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56085890G>A ENST00000312711.1 + 1 108 c.108G>A c.(106-108)gtG>gtA p.V36V NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 36 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) TGATCTATGTGATCTCAGTGA 0.433000 44 67 0 0 0.014410 0 0 IGSF9 57549 broad.mit.edu 37 1 159898714 159898714 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:159898714C>T ENST00000368094.1 - 19 2661 c.2464G>A c.(2464-2466)Gat>Aat p.D822N IGSF9_ENST00000361509.3_Missense_Mutation_p.D806N|IGSF9_ENST00000493195.1_5'UTR NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 822 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) CCGGCAGGATCCCCCCAGAGC 0.672000 10 23 0 0 0.006214 0 0 SPANXN5 494197 broad.mit.edu 37 X 52825638 52825638 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:52825638C>T ENST00000375511.3 - 2 861 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_001009616.2 NP_001009616.1 Q5MJ07 SPXN5_HUMAN SPANX family, member N5 37 p.E37K(1) large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) AAACTCGGTTCGAGGACTAAG 0.388000 36 47 0 0 0.003755 0 0 ELP6 54859 broad.mit.edu 37 3 47539878 47539878 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:47539878A>T ENST00000296149.4 - 6 740 c.570T>A c.(568-570)gaT>gaA p.D190E ELP6_ENST00000439305.1_Missense_Mutation_p.D117E|ELP6_ENST00000446787.1_Missense_Mutation_p.D117E NM_001031703.2 NP_001026873.2 elongator acetyltransferase complex subunit 6 CATTCTCCTCATCCTCCGCAT 0.562000 48 139 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100691290 100691290 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100691290G>A ENST00000306151.4 + 4 12493 c.12429G>A c.(12427-12429)acG>acA p.T4143T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4143 EGF-like. 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) GCCAGAATACGGCCTCTCGCT 0.532000 51 134 0 0 0.014410 0 0 PLCE1 51196 broad.mit.edu 37 10 95791276 95791276 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:95791276G>A ENST00000260766.3 + 2 1107 c.473G>A c.(472-474)aGa>aAa p.R158K PLCE1_ENST00000371380.2_Missense_Mutation_p.R158K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 158 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAACTAGACAGACCTTCCATG 0.433000 22 41 0 0 0.003330 0 0 CTXN3 613212 broad.mit.edu 37 5 126993430 126993430 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:126993430A>C ENST00000379445.3 + 3 768 c.217A>C c.(217-219)Aaa>Caa p.K73Q CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.K73Q NM_001048252.2 NP_001041717.1 Q4LDR2 CTXN3_HUMAN cortexin 3 73 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) AGGCCTGGAGAAAGGGCAGTT 0.502000 16 33 0 0 0.006122 0 0 KIF7 374654 broad.mit.edu 37 15 90171865 90171865 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:90171865A>T ENST00000394412.3 - 19 3893 c.3817T>A c.(3817-3819)Tta>Ata p.L1273I KIF7_ENST00000558928.1_5'UTR NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1273 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTCAAGGGTAACGGAGCGTGG 0.697000 48 97 0 0 0.014410 0 0 PCSK6 5046 broad.mit.edu 37 15 101933554 101933554 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:101933554C>T ENST00000348070.1 - 9 1068 c.1069G>A c.(1069-1071)Gat>Aat p.D357N PCSK6_ENST00000344273.2_Missense_Mutation_p.D357N|PCSK6_ENST00000331826.7_Missense_Mutation_p.D192N|PCSK6_ENST00000358417.3_Missense_Mutation_p.D357N|PCSK6_ENST00000398181.2_Missense_Mutation_p.D357N|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 358 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTGTAGCCATCGCACGAGCAG 0.617000 32 64 0 0 0.013726 0 0 ENO2 2026 broad.mit.edu 37 12 7030875 7030875 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7030875G>A ENST00000535366.1 + 8 1623 c.997G>A c.(997-999)Gaa>Aaa p.E333K ENO2_ENST00000541477.1_Missense_Mutation_p.E333K|ENO2_ENST00000229277.1_Missense_Mutation_p.E333K|ENO2_ENST00000544774.1_Missense_Mutation_p.E290K|ENO2_ENST00000538763.1_Missense_Mutation_p.E290K|ENO2_ENST00000545045.2_Missense_Mutation_p.E214K P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 333 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 GCGGGCAGTGGAAGAAAAGGC 0.547000 38 89 0 0 0.006230 0 0 CLVS1 157807 broad.mit.edu 37 8 62289207 62289207 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:62289207G>A ENST00000519846.1 + 4 971 c.499G>A c.(499-501)Gaa>Aaa p.E167K CLVS1_ENST00000325897.4_Missense_Mutation_p.E167K|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 167 CRAL-TRIO. 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 GCTGTCATTGGAAGTCCTAAT 0.443000 28 68 0 0 0.005443 0 0 FTCD 10841 broad.mit.edu 37 21 47574103 47574103 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47574103G>A ENST00000397748.1 - 2 241 c.198C>T c.(196-198)gcC>gcT p.A66A FTCD_ENST00000359679.2_Silent_p.A66A|FTCD_ENST00000397743.1_Silent_p.A66A|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Silent_p.A66A|FTCD_ENST00000355384.2_Silent_p.A66A|FTCD_ENST00000397746.3_Silent_p.A66A O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 66 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AAGCTACCCGGGCAGCGTTGA 0.657000 29 111 0 0 0.003271 0 0 CAPS2 84698 broad.mit.edu 37 12 75683520 75683520 + Missense_Mutation SNP G G A rs144198119 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:75683520G>A ENST00000393284.3 - 14 1238 c.637C>T c.(637-639)Cgt>Tgt p.R213C CAPS2_ENST00000442339.2_Missense_Mutation_p.R35C|CAPS2_ENST00000409445.3_Missense_Mutation_p.R445C|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R363C|RP11-560G2.1_ENST00000549953.1_RNA Q9BXY5 CAYP2_HUMAN calcyphosine 2 445 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GTCAAAATACGAACACCTCTT 0.333000 21 84 0 0 0.002780 0 0 DNAH7 56171 broad.mit.edu 37 2 196722214 196722214 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:196722214G>A ENST00000312428.6 - 44 8401 c.8301C>T c.(8299-8301)atC>atT p.I2767I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2767 Stalk (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 TTTTTCTTATGATATTCATAT 0.393000 18 45 0 0 0.004990 0 0 ARAP1 116985 broad.mit.edu 37 11 72406880 72406880 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:72406880C>T ENST00000359373.5 - 24 4154 c.3303G>A c.(3301-3303)atG>atA p.M1101I ARAP1_ENST00000393609.3_Missense_Mutation_p.M1101I|ARAP1_ENST00000393605.3_Missense_Mutation_p.M861I|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Missense_Mutation_p.M795I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M856I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M856I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M1101I Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1101 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TGTGCACGTTCATCTGGTTCG 0.537000 178 232 0 0 0.014410 0 0 PEX19 5824 broad.mit.edu 37 1 160252837 160252837 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:160252837G>A ENST00000368072.5 - 3 264 c.243C>T c.(241-243)tcC>tcT p.S81S PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAGTGGCTTGGGAAGCCAGTT 0.537000 37 123 0 0 0.005524 0 0 ERBB4 2066 broad.mit.edu 37 2 212488680 212488680 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:212488680G>A ENST00000342788.4 - 18 2479 c.2169C>T c.(2167-2169)gtC>gtT p.V723V ERBB4_ENST00000402597.1_Silent_p.V713V|ERBB4_ENST00000436443.1_Silent_p.V723V NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 723 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) CTGAGCCAAGGACTTTTACCC 0.388000 TSP Lung(8;0.080) 23 64 0 0 0.003954 0 0 LCE1E 353135 broad.mit.edu 37 1 152759897 152759897 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152759897C>T ENST00000368770.3 + 2 175 c.122C>T c.(121-123)tCt>tTt p.S41F LCE1E_ENST00000368771.1_Missense_Mutation_p.S41F NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 41 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTCCAGTCTCTTCCTGCTGC 0.662000 59 188 0 0 0.014410 0 0 FBXO21 23014 broad.mit.edu 37 12 117612501 117612501 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:117612501G>A ENST00000427718.2 - 5 768 c.694C>T c.(694-696)Ctt>Ttt p.L232F FBXO21_ENST00000330622.5_Missense_Mutation_p.L232F|FBXO21_ENST00000549689.1_5'UTR NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 232 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) ATGCCCCGAAGGGTTTTGCAA 0.478000 17 61 0 0 0.004990 0 0 GPR98 84059 broad.mit.edu 37 5 89941810 89941810 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:89941810C>T ENST00000405460.2 + 16 3020 c.2924C>T c.(2923-2925)aCc>aTc p.T975I NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 975 Calx-beta 7. 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) GAAGAATTTACCGTTATCCTA 0.338000 10 9 0 0 0.008291 0 0 ADAM28 10863 broad.mit.edu 37 8 24199248 24199248 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:24199248G>A ENST00000265769.4 + 16 1918 c.1808G>A c.(1807-1809)gGa>gAa p.G603E ADAM28_ENST00000397649.3_Missense_Mutation_p.G350E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 603 Cys-rich. 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) GTGGCCAATGGAACTAAGTGT 0.403000 8 73 0 0 0.004482 0 0 OR8K1 390157 broad.mit.edu 37 11 56114262 56114262 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56114262C>T ENST00000279783.2 + 1 842 c.748C>T c.(748-750)Cat>Tat p.H250Y NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) CTGTAGCTCTCATCTGACAGT 0.408000 HNSCC(65;0.19) 15 23 0 0 0.002450 0 0 MUC2 4583 broad.mit.edu 37 11 1095331 1095331 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1095331C>T ENST00000441003.2 + 32 6178 c.6151C>T c.(6151-6153)Cca>Tca p.P2051S MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.P189S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4413 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) CCCCGAGTGCCCAGACTTTGA 0.687000 12 47 0 0 0.003163 0 0 VPS37B 79720 broad.mit.edu 37 12 123351856 123351856 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:123351856G>A ENST00000267202.2 - 4 1046 c.665C>T c.(664-666)cCg>cTg p.P222L NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 222 Pro-rich. cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) CGCAGTAAACGGGGTGGCTAA 0.706000 17 25 0 0 0.006122 0 0 TMEM132B 114795 broad.mit.edu 37 12 126137133 126137133 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:126137133C>T ENST00000299308.3 + 8 2054 c.2046C>T c.(2044-2046)atC>atT p.I682I TMEM132B_ENST00000535886.1_Silent_p.I194I NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 682 integral to membrane p.I682I(2) 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) AAAGGGCCATCGTCTCCACAG 0.607000 29 69 0 0 0.013726 0 0 MCC 4163 broad.mit.edu 37 5 112720857 112720857 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:112720857C>T ENST00000408903.3 - 2 638 c.223G>A c.(223-225)Gag>Aag p.E75K CTD-2201G3.1_ENST00000416046.2_RNA NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 0 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) TTCATGATCTCAGCCACAGAC 0.433000 51 66 0 0 0.014410 0 0 A1CF 29974 broad.mit.edu 37 10 52619604 52619604 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:52619604G>A ENST00000282641.2 - 3 284 c.97C>T c.(97-99)Cag>Tag p.Q33* A1CF_ENST00000373997.3_Nonsense_Mutation_p.Q33*|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Q33*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Q33*|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.1_Nonsense_Mutation_p.Q33* NM_138932.2 NP_620310.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 33 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GTTCCTACCTGGACCAAGCTA 0.498000 16 21 0 0 0.004990 0 0 KNG1 3827 broad.mit.edu 37 3 186449367 186449367 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:186449367G>A ENST00000265023.4 + 6 918 c.706G>A c.(706-708)Gat>Aat p.D236N KNG1_ENST00000287611.2_Missense_Mutation_p.D236N|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.D200N NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 236 Cystatin 2. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TGCATACATCGATATTCAGCT 0.368000 36 39 0 0 0.004289 0 0 LCP1 3936 broad.mit.edu 37 13 46726977 46726977 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:46726977C>T ENST00000398576.2 - 10 1065 c.677G>A c.(676-678)gGa>gAa p.G226E LCP1_ENST00000323076.2_Missense_Mutation_p.G226E P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 226 Actin-binding 1.|CH 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05) CCACAGAAGTCCCAGGACCAG 0.493000 T BCL6 NHL 20 28 0 0 0.012319 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726745 25726745 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:25726745C>T ENST00000297012.3 - 1 45 c.11G>A c.(10-12)cGa>cAa p.R4Q NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 4 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CTGCTTCCCTCGTCCAGACAT 0.522000 53 122 0 0 0.014410 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137536 40137536 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:40137536C>T ENST00000278198.2 - 2 2270 c.307G>A c.(307-309)Gaa>Aaa p.E103K LRRC4C_ENST00000528697.1_Missense_Mutation_p.E103K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E103K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E103K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 103 regulation of axonogenesis integral to membrane protein binding p.E103*(1)|p.E103K(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) TGTAGGATTTCCAAGTGTCTC 0.468000 11 35 0 0 0.008291 0 0 FGA 2243 broad.mit.edu 37 4 155507797 155507797 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:155507797C>T ENST00000302053.3 - 5 862 c.784G>A c.(784-786)Gag>Aag p.E262K FGA_ENST00000403106.3_Missense_Mutation_p.E262K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 262 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCAGGTCTCTCTAACTCCATT 0.517000 19 109 0 0 0.008871 0 0 TNXB 7148 broad.mit.edu 37 6 32052275 32052275 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32052275C>T ENST00000375244.3 - 8 3561 c.3360G>A c.(3358-3360)ctG>ctA p.L1120L TNXB_ENST00000375247.2_Silent_p.L1120L P22105 TENX_HUMAN tenascin XB 1207 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 p.L1207L(2)|p.L1120L(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCCAGGATCCAGGGAGGTGA 0.582000 198 486 0 0 0.014410 0 0 XPO6 23214 broad.mit.edu 37 16 28112999 28112999 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:28112999C>T ENST00000304658.5 - 23 3556 c.3056G>A c.(3055-3057)cGg>cAg p.R1019Q XPO6_ENST00000565698.1_Missense_Mutation_p.R1005Q NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 1019 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CATGGCAGTCCGGAAGATCTT 0.577000 9 51 0 0 0.004482 0 0 MRRF 92399 broad.mit.edu 37 9 125075623 125075623 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:125075623G>A ENST00000344641.3 + 6 980 c.669G>A c.(667-669)aaG>aaA p.K223K MRRF_ENST00000297908.3_Silent_p.K171K|MRRF_ENST00000373723.4_Intron|MRRF_ENST00000394315.3_Intron|MRRF_ENST00000373729.1_Silent_p.K179K NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor 223 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 AGAAATCCAAGGATACAGTCT 0.428000 29 74 0 0 0.012213 0 0 MUC16 94025 broad.mit.edu 37 19 9063611 9063611 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9063611C>T ENST00000397910.4 - 3 24038 c.23835G>A c.(23833-23835)caG>caA p.Q7945Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7947 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 GAGTGCTCATCTGTGAGTGTG 0.468000 30 76 0 0 0.006320 0 0 KRT10 3858 broad.mit.edu 37 17 38975387 38975387 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:38975387C>T ENST00000269576.5 - 7 1409 c.1400G>A c.(1399-1401)gGa>gAa p.G467E TMEM99_ENST00000301665.3_5'UTR NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 467 Gly-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) gccgaaacttccgccgccgcg 0.682000 13 25 0 0 0.001855 0 0 GEMIN5 25929 broad.mit.edu 37 5 154296622 154296622 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:154296622G>A ENST00000285873.7 - 13 1866 c.1791C>T c.(1789-1791)agC>agT p.S597S NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 597 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) CCATCAGATAGCTCAATTCTG 0.453000 58 101 0 0 0.014410 0 0 CAPN13 92291 broad.mit.edu 37 2 30973992 30973992 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:30973992G>A ENST00000295055.8 - 11 1389 c.1213C>T c.(1213-1215)Cca>Tca p.P405S CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 405 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.P405S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAATCGAGTGGAAATTTTGCA 0.463000 17 35 0 0 0.004990 0 0 MAGI2 9863 broad.mit.edu 37 7 77998513 77998513 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:77998513C>T ENST00000354212.4 - 7 1316 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K MAGI2_ENST00000522391.1_Missense_Mutation_p.E355K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E187K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E192K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E355K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 355 Interaction with DDN.|WW 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCGATTTTTTCCCAGCCATAT 0.259000 24 54 0 0 0.009535 0 0 RUSC2 9853 broad.mit.edu 37 9 35555487 35555487 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:35555487C>T ENST00000455600.1 + 3 3014 c.2445C>T c.(2443-2445)ccC>ccT p.P815P NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 815 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AAAGCCTGCCCCCATGGAGCC 0.632000 81 119 0 0 0.014410 0 0 ZNF845 91664 broad.mit.edu 37 19 53855283 53855283 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:53855283C>T ENST00000458035.1 + 4 1472 c.1355C>T c.(1354-1356)tCg>tTg p.S452L ZNF845_ENST00000595091.1_Missense_Mutation_p.S452L NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AGTTTCAAATCGAACCTTGAA 0.393000 40 44 0 0 0.005524 0 0 POU4F2 5458 broad.mit.edu 37 4 147561220 147561220 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:147561220C>T ENST00000281321.3 + 2 738 c.490C>T c.(490-492)Cct>Tct p.P164S NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 164 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CATCTCGCACCCTTCCGCGTT 0.652000 8 49 0 0 0.006214 0 0 CPA5 93979 broad.mit.edu 37 7 130007340 130007340 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:130007340C>T ENST00000485477.1 + 10 2095 c.966C>T c.(964-966)atC>atT p.I322I CPA5_ENST00000461828.1_Silent_p.I322I|CPA5_ENST00000474905.1_Silent_p.I322I|CPA5_ENST00000431780.2_Silent_p.I322I|CPA5_ENST00000355388.3_Silent_p.I322I|CPA5_ENST00000466363.2_Silent_p.I322I|CPA5_ENST00000393213.3_Silent_p.I322I Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 322 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TGATCTCCATCCACAGCTACT 0.557000 59 166 0 0 0.014410 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24893016 24893016 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:24893016G>A ENST00000382071.2 + 3 312 c.227G>A c.(226-228)cGa>cAa p.R76Q C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R76Q P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 76 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) AAGGGAGAACGAGGTTAGTAG 0.453000 30 160 0 0 0.003271 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032886 193032886 + Splice_Site SNP C C T rs138259240 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:193032886C>T ENST00000342358.4 - 18 2151 c.e18-1 NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CACTTTTTCTCTTTGTATTCA 0.323000 46 65 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13692205 13692205 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13692205T>C ENST00000265104.4 - 79 13867 c.13763A>G c.(13762-13764)aAg>aGg p.K4588R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4588 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) AACTGGCTTCTTATAGATGGG 0.473000 Kartagener syndrome 20 47 0 0 0.003330 0 0 TNRC6C 57690 broad.mit.edu 37 17 76067190 76067190 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:76067190G>A ENST00000335749.4 + 6 3363 c.2794G>A c.(2794-2796)Gat>Aat p.D932N TNRC6C_ENST00000301624.4_Missense_Mutation_p.D935N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.D935N|TNRC6C_ENST00000588061.1_Missense_Mutation_p.D935N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.D932N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.D932N NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 935 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGGCAAGCAGGATGAGGCCTG 0.507000 7 16 0 0 0.001984 0 0 CSMD1 64478 broad.mit.edu 37 8 3047446 3047446 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:3047446G>A ENST00000520002.1 - 35 5944 c.5389C>T c.(5389-5391)Ccc>Tcc p.P1797S CSMD1_ENST00000537824.1_Missense_Mutation_p.P1796S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1796S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1796S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1797S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1797S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1797S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1797 Sushi 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) ACACAGCTGGGGATCGTGTCG 0.587000 3 11 0 0 0.009096 0 0 SPTBN4 57731 broad.mit.edu 37 19 41072235 41072235 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:41072235G>A ENST00000352632.3 + 30 6392 c.6306G>A c.(6304-6306)gaG>gaA p.E2102E SPTBN4_ENST00000392025.1_Silent_p.E845E|SPTBN4_ENST00000338932.3_Silent_p.E2102E|SPTBN4_ENST00000598249.1_Silent_p.E2102E Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2102 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTGGGAAGAGAGGTTCAGCT 0.642000 4 8 0 0 0.009096 0 0 MYO1A 4640 broad.mit.edu 37 12 57430834 57430834 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57430834C>T ENST00000442789.2 - 21 2384 c.2097G>A c.(2095-2097)caG>caA p.Q699Q MYO1A_ENST00000300119.3_Silent_p.Q699Q|MYO1A_ENST00000544473.1_Silent_p.Q537Q NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 699 IQ 1. 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 GTGTGGCCAGCTGCTGGAGTC 0.567000 43 132 0 0 0.009718 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203745 140203745 + Silent SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140203745C>A ENST00000378126.3 + 1 2385 c.2385C>A c.(2383-2385)ccC>ccA p.P795P PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_031501.1 NP_113689.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATCTTTCCCTCCCAATTTT 0.373000 32 67 4.34311e-12 4.42707e-12 0.003271 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74621525 74621525 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:74621525T>A ENST00000354431.4 - 4 790 c.599A>T c.(598-600)aAt>aTt p.N200I LRRIQ3_ENST00000395089.1_Missense_Mutation_p.N200I|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.N92I NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 200 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 TTTAATATTATTAATTTCCTC 0.234000 19 35 0 0 0.006122 0 0 FLI1 2313 broad.mit.edu 37 11 128680672 128680672 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:128680672C>T ENST00000344954.6 + 9 1437 c.1049C>T c.(1048-1050)tCt>tTt p.S350F FLI1_ENST00000429175.2_Missense_Mutation_p.S383F|FLI1_ENST00000281428.8_Missense_Mutation_p.S317F|FLI1_ENST00000525560.1_Missense_Mutation_p.S190F|FLI1_ENST00000534087.1_Missense_Mutation_p.S350F Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 383 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) AAGTACCCTTCTGACATCTCC 0.517000 T EWSR1 Ewing sarcoma 30 37 0 0 0.007291 0 0 BAHCC1 57597 broad.mit.edu 37 17 79426544 79426544 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:79426544C>T ENST00000307745.7 + 27 5819 c.5819C>T c.(5818-5820)tCc>tTc p.S1940F CGGCCACAGTCCAGCCGGTAC 0.677000 41 93 0 0 0.014410 0 0 MROH7 374977 broad.mit.edu 37 1 55158216 55158216 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:55158216G>A ENST00000414150.2 + 16 3109 c.2831G>A c.(2830-2832)gGa>gAa p.G944E MROH7_ENST00000454855.2_Missense_Mutation_p.G462E|MROH7_ENST00000421030.2_Missense_Mutation_p.G944E|MROH7_ENST00000409996.1_Missense_Mutation_p.G512E|MROH7_ENST00000339553.5_Missense_Mutation_p.G944E|MROH7_ENST00000545244.1_Missense_Mutation_p.G512E|MROH7_ENST00000395690.2_Missense_Mutation_p.G944E maestro heat-like repeat family member 7 CACCACCGCGGAGTGGCCTTG 0.612000 32 63 0 0 0.003755 0 0 TLK2 11011 broad.mit.edu 37 17 60678057 60678057 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:60678057C>T ENST00000582809.1 + 19 1852 c.1149C>T c.(1147-1149)ttC>ttT p.F383F TLK2_ENST00000542523.1_Silent_p.F500F|TLK2_ENST00000343388.7_Silent_p.F500F|TLK2_ENST00000326270.9_Silent_p.F554F|TLK2_ENST00000346027.5_Silent_p.F532F Q86UE8 TLK2_HUMAN tousled-like kinase 2 554 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 ATCTGGACTTCTACCTGAAAC 0.358000 22 42 0 0 0.014323 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050993 110050993 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:110050993C>T ENST00000369864.4 - 2 891 c.542G>A c.(541-543)gGa>gAa p.G181E AMIGO1_ENST00000369862.1_Missense_Mutation_p.G181E Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 181 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TAGCTTGGCTCCTTCCTTGAC 0.547000 104 407 0 0 0.014410 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20563868 20563868 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:20563868C>T ENST00000202677.6 - 20 2675 c.2533G>A c.(2533-2535)Gaa>Aaa p.E845K NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 845 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 TTGGTACTTTCACCTGGTACA 0.428000 12 32 0 0 0.002450 0 0 GPR179 440435 broad.mit.edu 37 17 36482965 36482965 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:36482965C>T ENST00000342292.4 - 11 6507 c.6487G>A c.(6487-6489)Gga>Aga p.G2163R GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2163 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) TCCGTCCCTCCAGGTCCTGCC 0.592000 60 188 0 0 0.014410 0 0 DMGDH 29958 broad.mit.edu 37 5 78325774 78325774 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:78325774C>T ENST00000255189.3 - 11 1795 c.1767G>A c.(1765-1767)ggG>ggA p.G589G DMGDH_ENST00000380311.4_Silent_p.G388G|DMGDH_ENST00000540686.1_Silent_p.G209G NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 589 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) AAAGAAACTCCCCAGGAGATT 0.363000 17 35 0 0 0.004990 0 0 MFSD9 84804 broad.mit.edu 37 2 103340268 103340268 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:103340268G>A ENST00000258436.5 - 5 571 c.528C>T c.(526-528)tcC>tcT p.S176S NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 176 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 AGCCCACACCGGAGGCTGTGT 0.488000 54 107 0 0 0.014410 0 0 RALY 22913 broad.mit.edu 37 20 32663680 32663680 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:32663680G>A ENST00000375114.3 + 5 908 c.329_splice c.e5-1 p.R110_splice RALY_ENST00000246194.3_Splice_Site_p.R126_splice|RALY_ENST00000493399.1_3'UTR NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 126 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GCCCTCACAGGCTCTTCGACT 0.662000 11 25 0 0 0.010729 0 0 SPOPL 339745 broad.mit.edu 37 2 139326593 139326593 + Silent SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:139326593A>T ENST00000280098.4 + 11 1501 c.1122A>T c.(1120-1122)ctA>ctT p.L374L NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 374 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) TTCGAGCACTAGCATCTGCAC 0.438000 108 300 0 0 0.014410 0 0 BRINP3 339479 broad.mit.edu 37 1 190195259 190195259 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:190195259C>T ENST00000367462.3 - 6 1145 c.914G>A c.(913-915)cGa>cAa p.R305Q FAM5C_ENST00000534846.1_Missense_Mutation_p.R203Q|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 305 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TTCAGTTATTCGAAGAAGATT 0.373000 11 25 0 0 0.013537 0 0 MIR1179 100302235 broad.mit.edu 37 15 89151363 89151363 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:89151363C>T ENST00000408703.1 + 0 26 NR_031590.1 AGCATTCTTTCATTGGTTGGT 0.388000 86 190 0 0 0.014410 0 0 KIAA1407 57577 broad.mit.edu 37 3 113729778 113729778 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:113729778C>T ENST00000295878.3 - 9 1400 c.1254G>A c.(1252-1254)ctG>ctA p.L418L KIAA1407_ENST00000545063.1_Silent_p.L249L NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 418 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCTCTCTCTTCAGGAGCTCGG 0.498000 62 85 0 0 0.014410 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13339612 13339612 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:13339612G>A ENST00000602906.1 + 0 963 kidney(3)|lung(1) 4 AGCAAGTATGGAAGCGGGACT 0.483000 8 21 0 0 0.003080 0 0 CSMD2 114784 broad.mit.edu 37 1 34090118 34090118 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:34090118C>T ENST00000373381.4 - 35 5802 c.e35+1 CSMD2_ENST00000373377.1_Splice_Site|CSMD2_ENST00000373380.1_Splice_Site|CSMD2_ENST00000373388.2_Splice_Site NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 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) CTTGCCCCTACCTGGATGCCA 0.657000 57 135 0 0 0.014410 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860513 43860513 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:43860513G>A ENST00000389420.3 - 9 1308 c.1309C>T c.(1309-1311)Cac>Tac p.H437Y ADAMTS20_ENST00000553158.1_Missense_Mutation_p.H437Y NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 437 Peptidase M12B. 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) GGACTCATGTGAAAACTTAAA 0.308000 22 80 0 0 0.003330 0 0 CLDN3 1365 broad.mit.edu 37 7 73184241 73184241 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:73184241C>T ENST00000395145.2 - 1 359 c.139G>A c.(139-141)Gag>Aag p.E47K NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 47 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) CACAGGCCCTCCCAGATGTTC 0.647000 25 61 0 0 0.007291 0 0 SV2B 9899 broad.mit.edu 37 15 91803600 91803600 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:91803600C>T ENST00000394232.1 + 6 1439 c.969C>T c.(967-969)acC>acT p.T323T SV2B_ENST00000545111.2_Silent_p.T172T|SV2B_ENST00000330276.4_Silent_p.T323T NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 323 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TCCATGACACCAACATGAGAG 0.473000 49 135 0 0 0.014410 0 0 LBR 3930 broad.mit.edu 37 1 225592349 225592349 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:225592349G>A ENST00000338179.2 - 12 1668 c.1543C>T c.(1543-1545)Ccc>Tcc p.P515S LBR_ENST00000272163.4_Missense_Mutation_p.P515S NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 515 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GGATCACTGGGATTTTTCCGG 0.279000 18 61 0 0 0.006122 0 0 MORC2 22880 broad.mit.edu 37 22 31331110 31331110 + Silent SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:31331110A>C ENST00000215862.4 - 20 3028 c.1665T>G c.(1663-1665)ccT>ccG p.P555P MORC2_ENST00000397641.2_Silent_p.P617P NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 617 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 CAGCAGGTAAAGGGGGCGACC 0.572000 15 55 0 0 0.002450 0 0 KIF21B 23046 broad.mit.edu 37 1 200960046 200960046 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:200960046G>A ENST00000332129.2 - 18 3002 c.2687_splice c.e18+1 p.R896_splice KIF21B_ENST00000360529.5_Splice_Site_p.R896_splice|KIF21B_ENST00000461742.2_Splice_Site_p.R896_splice|KIF21B_ENST00000422435.2_Splice_Site_p.R896_splice 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 896 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R896R(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCACCTTACCGGGCAGGACGG 0.647000 61 115 0 0 0.014410 0 0 PHF8 23133 broad.mit.edu 37 X 54037565 54037565 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:54037565G>A ENST00000338154.6 - 8 1440 c.936C>T c.(934-936)ttC>ttT p.F312F PHF8_ENST00000357988.5_Silent_p.F348F|PHF8_ENST00000338946.6_Silent_p.F312F|PHF8_ENST00000322659.8_Silent_p.F312F NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 348 JmjC. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 CTGTGGGAATGAAAAGTGTCT 0.498000 28 35 0 0 0.008361 0 0 PDE1A 5136 broad.mit.edu 37 2 183051210 183051210 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:183051210G>A ENST00000435564.1 - 12 1561 c.1361C>T c.(1360-1362)tCc>tTc p.S454F PDE1A_ENST00000410103.1_Missense_Mutation_p.S454F|PDE1A_ENST00000351439.5_Missense_Mutation_p.S438F|PDE1A_ENST00000346717.4_Missense_Mutation_p.S420F|PDE1A_ENST00000409365.1_Missense_Mutation_p.S438F|PDE1A_ENST00000536095.1_Missense_Mutation_p.S350F|PDE1A_ENST00000358139.2_Missense_Mutation_p.S454F|PDE1A_ENST00000331935.6_Missense_Mutation_p.S454F|PDE1A_ENST00000456212.1_Missense_Mutation_p.S454F NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 454 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 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) TGCCACATAGGAAGAAGTTTC 0.338000 5 33 0 0 0.001168 0 0 AP3B2 8120 broad.mit.edu 37 15 83335593 83335593 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:83335593G>A ENST00000261722.3 - 15 1965 c.1758C>T c.(1756-1758)atC>atT p.I586I AP3B2_ENST00000535359.1_Silent_p.I586I|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.I554I NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 586 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CGGAAGGGACGATGAGCTGCC 0.587000 66 140 0 0 0.014410 0 0 SMAD9 4093 broad.mit.edu 37 13 37453547 37453547 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:37453547G>A ENST00000379826.4 - 2 622 c.280C>T c.(280-282)Cgc>Tgc p.R94C SMAD9_ENST00000350148.5_Missense_Mutation_p.R94C|SMAD9_ENST00000399275.2_Missense_Mutation_p.R94C NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 94 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) CGCCACACGCGACAGTAAATC 0.627000 23 54 0 0 0.003954 0 0 PUS7L 83448 broad.mit.edu 37 12 44124202 44124202 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:44124202C>T ENST00000416848.2 - 9 2571 c.2083G>A c.(2083-2085)Gaa>Aaa p.E695K PUS7L_ENST00000551923.1_Missense_Mutation_p.E695K|PUS7L_ENST00000431332.3_Missense_Mutation_p.E382K|PUS7L_ENST00000344862.5_Missense_Mutation_p.E695K NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 695 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTCATTATTTCCTTCAGACAA 0.378000 14 40 0 0 0.001855 0 0 KMT2C 58508 broad.mit.edu 37 7 151874091 151874091 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:151874091G>A ENST00000355193.2 - 38 8665 c.8447C>T c.(8446-8448)tCc>tTc p.S2816F KMT2C_ENST00000262189.6_Missense_Mutation_p.S2816F lysine (K)-specific methyltransferase 2C GGTAACAGTGGATTTTTTCTG 0.323000 46 103 0 0 0.013114 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657286 72657286 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:72657286G>A ENST00000425256.1 - 0 2625 NR_002164.1 ggccctgccaggagttttctc 0.448000 35 147 0 0 0.004289 0 0 PEAK1 79834 broad.mit.edu 37 15 77425473 77425473 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:77425473G>A ENST00000560626.2 - 6 4426 c.3951C>T c.(3949-3951)ctC>ctT p.L1317L PEAK1_ENST00000312493.4_Silent_p.L1317L Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1317 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding CTCCAAAACGGAGCTGGTCTT 0.468000 22 71 0 0 0.003330 0 0 HTR1B 3351 broad.mit.edu 37 6 78172713 78172713 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:78172713G>A ENST00000369947.2 - 1 777 c.408C>T c.(406-408)tcC>tcT p.S136S NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 136 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) GGTGCAGGATGGAGGCAGTGC 0.607000 27 48 0 0 0.005443 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401601 77401601 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:77401601C>T ENST00000282849.5 - 4 933 c.515G>A c.(514-516)cGa>cAa p.R172Q ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 172 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R172Q(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 TTCATTTTTTCGTGTCCTTAT 0.463000 15 66 0 0 0.004007 0 0 XIST 7503 broad.mit.edu 37 X 73065804 73065804 + RNA SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:73065804G>T ENST00000429829.1 - 0 6784 NR_001564.2 TTATTCAGATGGAATGGGCAA 0.463000 68 93 5.39075e-54 5.53448e-54 0.014410 1 0 ZNF418 147686 broad.mit.edu 37 19 58438668 58438668 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:58438668G>T ENST00000396147.1 - 4 1172 c.881C>A c.(880-882)tCt>tAt p.S294Y ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.S294Y|ZNF418_ENST00000425570.3_Missense_Mutation_p.S315Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.S209Y NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 294 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) ATGACTAAAAGATTTCCCACA 0.428000 76 141 4.8811e-34 5.00674e-34 0.014410 1 0 CMBL 134147 broad.mit.edu 37 5 10290680 10290680 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:10290680C>T ENST00000296658.3 - 2 615 c.195G>A c.(193-195)atG>atA p.M65I CMBL_ENST00000510532.1_5'UTR NM_138809.3 NP_620164.1 Q96DG6 CMBL_HUMAN carboxymethylenebutenolidase homolog (Pseudomonas) 65 cytosol hydrolase activity|protein binding endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1) 13 TTCCTGAGATCATGTCAGCTA 0.353000 71 152 0 0 0.014410 0 0 IQSEC2 23096 broad.mit.edu 37 X 53283775 53283775 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:53283775G>A ENST00000396435.3 - 4 1538 c.1338C>T c.(1336-1338)tcC>tcT p.S446S IQSEC2_ENST00000375365.2_Silent_p.S241S|IQSEC2_ENST00000375368.5_Silent_p.S436S NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 436 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 ATGTGGTGACGGAGCTTCCAC 0.577000 27 59 0 0 0.008361 0 0 PPP4R4 57718 broad.mit.edu 37 14 94741824 94741824 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94741824G>A ENST00000304338.3 + 24 2717 c.2563G>A c.(2563-2565)Gga>Aga p.G855R NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 855 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 CAAGAGCAGTGGAAGTAAAGA 0.453000 30 76 0 0 0.007291 0 0 UNC13C 440279 broad.mit.edu 37 15 54306718 54306718 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:54306718G>A ENST00000545554.1 + 1 1618 c.1618G>A c.(1618-1620)Gat>Aat p.D540N UNC13C_ENST00000260323.11_Missense_Mutation_p.D540N|UNC13C_ENST00000537900.1_Missense_Mutation_p.D540N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 540 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) CTCACAGAGTGATTTTTTCAC 0.368000 13 47 0 0 0.003163 0 0 SAGE1 55511 broad.mit.edu 37 X 134991025 134991025 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:134991025G>A ENST00000535938.1 + 13 1611 c.1444G>A c.(1444-1446)Gct>Act p.A482T SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.A482T|SAGE1_ENST00000324447.3_Missense_Mutation_p.A482T NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 482 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GTTTCCAGATGCTACCATTAC 0.433000 37 56 0 0 0.006999 0 0 STK33 65975 broad.mit.edu 37 11 8474411 8474411 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:8474411C>T ENST00000447869.1 - 7 1747 c.829G>A c.(829-831)Gaa>Aaa p.E277K STK33_ENST00000396672.1_Missense_Mutation_p.E277K|STK33_ENST00000396673.1_Missense_Mutation_p.E277K|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.E90K|STK33_ENST00000534493.1_Missense_Mutation_p.E236K|STK33_ENST00000315204.1_Missense_Mutation_p.E277K Q9BYT3 STK33_HUMAN serine/threonine kinase 33 277 Protein kinase. 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) AGCATGGCTTCACTCCTACTT 0.438000 73 138 0 0 0.014410 0 0 ELAVL4 1996 broad.mit.edu 37 1 50666695 50666695 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:50666695C>T ENST00000371824.1 + 7 1203 c.946C>T c.(946-948)Cgt>Tgt p.R316C ELAVL4_ENST00000357083.4_Missense_Mutation_p.R333C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R319C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R316C|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R321C|ELAVL4_ENST00000371823.4_Missense_Mutation_p.R330C|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R335C P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 330 RRM 3. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding p.R333C(1)|p.R330C(1) NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 AAAGGTGATTCGTGACTTCAA 0.542000 35 94 0 0 0.006999 0 0 PCDH8 5100 broad.mit.edu 37 13 53422434 53422434 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:53422434G>A ENST00000377942.3 - 1 341 c.138C>T c.(136-138)atC>atT p.I46I PCDH8_ENST00000338862.4_Silent_p.I46I NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 46 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCAGGGTCCCGATGACCGTGC 0.602000 109 121 0 0 0.014410 0 0 PADI3 51702 broad.mit.edu 37 1 17601173 17601173 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:17601173C>T ENST00000375460.3 + 11 1239 c.1199C>T c.(1198-1200)tCt>tTt p.S400F NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 400 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CGCGACAGGTCTGTGAGTGGC 0.607000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 72 0 0 0.012213 0 0 GPC3 2719 broad.mit.edu 37 X 132730588 132730588 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:132730588C>T ENST00000370818.3 - 7 1898 c.1453G>A c.(1453-1455)Gat>Aat p.D485N GPC3_ENST00000543339.1_Missense_Mutation_p.D431N|GPC3_ENST00000394299.2_Missense_Mutation_p.D508N NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 485 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) AGGTTTTTATCCAGAACTCTA 0.448000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 42 95 0 0 0.009718 0 0 CATSPERD 257062 broad.mit.edu 37 19 5746063 5746063 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:5746063C>T ENST00000381624.3 + 9 858 c.797C>T c.(796-798)tCc>tTc p.S266F CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 266 integral to membrane CTGTTGTTTTCCCATAATGCA 0.602000 72 210 0 0 0.014410 0 0 ANKS1B 56899 broad.mit.edu 37 12 99478707 99478707 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:99478707G>A ENST00000547776.2 - 16 2620 c.2621C>T c.(2620-2622)cCa>cTa p.P874L ANKS1B_ENST00000550693.2_Missense_Mutation_p.P100L|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P874L|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P100L|ANKS1B_ENST00000547446.1_Missense_Mutation_p.P69L|ANKS1B_ENST00000547010.1_Missense_Mutation_p.P450L|ANKS1B_ENST00000546568.1_Missense_Mutation_p.P100L|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P100L|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P100L|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P100L|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P43L 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) GCTCACCTTTGGAAGGAGCTG 0.413000 4 12 0 0 0.009096 0 0 GUCA1A 2978 broad.mit.edu 37 6 42141371 42141371 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:42141371G>A ENST00000394237.1 + 3 996 c.20G>A c.(19-21)gGa>gAa p.G7E GUCA1A_ENST00000053469.4_Missense_Mutation_p.G7E|GUCA1A_ENST00000541991.1_Missense_Mutation_p.G7E|GUCA1A_ENST00000372958.1_Missense_Mutation_p.G7E P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 7 signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTGATGGAGGGAAAGTCAGTG 0.592000 26 103 0 0 0.005443 0 0 HYDIN 54768 broad.mit.edu 37 16 71025993 71025993 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:71025993C>T ENST00000393567.2 - 24 3915 c.3765G>A c.(3763-3765)atG>atA p.M1255I HYDIN_ENST00000448089.2_Missense_Mutation_p.M1207I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1255 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) CATTTAAATCCATCTCGGGGG 0.453000 9 69 0 0 0.006214 0 0 ROCK1 6093 broad.mit.edu 37 18 18550323 18550323 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:18550323G>A ENST00000399799.1 - 23 3746 c.2806C>T c.(2806-2808)Cac>Tac p.H936Y NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 936 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CTAACAGTGTGATCTTTATCT 0.368000 33 36 0 0 0.004878 0 0 H3F3C 440093 broad.mit.edu 37 12 31944699 31944699 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:31944699T>A ENST00000340398.3 - 1 476 c.402A>T c.(400-402)agA>agT p.R134S NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 134 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 TCACTTAAGCTCTCTCTCCCC 0.408000 HNSCC(67;0.2) 45 189 0 0 0.014410 0 0 PREX2 80243 broad.mit.edu 37 8 68989631 68989631 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:68989631G>A ENST00000288368.4 + 15 1846 c.e15-1 PREX2_ENST00000529398.1_Splice_Site NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTGGTTAACAGGGAGATTGCC 0.443000 24 55 0 0 0.003954 0 0 RPRD2 23248 broad.mit.edu 37 1 150443485 150443485 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:150443485A>G ENST00000401000.4 + 10 2048 c.1983A>G c.(1981-1983)ttA>ttG p.L661L RPRD2_ENST00000539519.1_Silent_p.L661L|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.L687L Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 687 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GCTTAAACTTAAACATCCCAA 0.502000 59 113 0 0 0.014410 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935446 151935446 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:151935446C>T ENST00000393902.3 - 3 1288 c.721G>A c.(721-723)Gat>Aat p.D241N MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241N P43357 MAGA3_HUMAN melanoma antigen family A, 3 241 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TTCTTGGGATCCCCCAAGATA 0.542000 133 217 0 0 0.014410 0 0 OSBPL6 114880 broad.mit.edu 37 2 179236866 179236866 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179236866A>T ENST00000190611.4 + 14 1677 c.1301A>T c.(1300-1302)aAt>aTt p.N434I OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000359685.3_Intron|OSBPL6_ENST00000315022.2_Missense_Mutation_p.N438I|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000409045.3_Missense_Mutation_p.N403I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.N459I NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 434 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTCAACCAGAATGCTGAACTA 0.333000 26 62 0 0 0.008361 0 0 TP53BP1 7158 broad.mit.edu 37 15 43749146 43749146 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:43749146C>T ENST00000263801.3 - 12 1897 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K TP53BP1_ENST00000382039.3_Missense_Mutation_p.E554K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E554K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E554K NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 549 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) GACATGGGTTCCGTATCCTCA 0.408000 Other conserved DNA damage response genes 38 84 0 0 0.004289 0 0 MDGA1 266727 broad.mit.edu 37 6 37606422 37606422 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:37606422C>G ENST00000434837.2 - 15 3736 c.2558G>C c.(2557-2559)cGg>cCg p.R853P MDGA1_ENST00000505425.1_Missense_Mutation_p.R853P|MDGA1_ENST00000297153.7_Missense_Mutation_p.R857P NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 853 MAM. 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 GTTCCGGGACCGCACCAGGAG 0.617000 8 31 0 0 0.003080 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838356 22838356 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:22838356C>T ENST00000404138.1 + 12 2701 c.2190C>T c.(2188-2190)gaC>gaT p.D730D ZBTB40_ENST00000375647.4_Silent_p.D730D|ZBTB40_ENST00000374651.4_Silent_p.D618D NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 730 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CCTCCCCAGACCCTGCCAAGA 0.547000 12 47 0 0 0.010729 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028248 21028248 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21028248C>T ENST00000381545.3 + 9 1026 c.807C>T c.(805-807)tcC>tcT p.S269S LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.S269S|SLCO1B3_ENST00000553473.1_Silent_p.S269S|SLCO1B3_ENST00000261196.2_Silent_p.S269S|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 269 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) GACTATTTTCCATTATTTCTT 0.363000 39 121 0 0 0.004878 0 0 PLCH2 9651 broad.mit.edu 37 1 2419097 2419097 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:2419097C>T ENST00000449969.1 + 8 1255 c.1094C>T c.(1093-1095)tCc>tTc p.S365F PLCH2_ENST00000378486.3_Missense_Mutation_p.S392F|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.S392F|PLCH2_ENST00000378488.3_Missense_Mutation_p.S392F|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 392 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) ACTCTGACTTCCAAGATCCTC 0.597000 22 60 0 0 0.014323 0 0 MAEL 84944 broad.mit.edu 37 1 166991034 166991034 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:166991034C>T ENST00000367872.4 + 12 1491 c.1247C>T c.(1246-1248)tCa>tTa p.S416L MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.S385L NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 416 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 TGTGACACTTCACTCTCACCT 0.413000 33 66 0 0 0.012213 0 0 PLCB4 5332 broad.mit.edu 37 20 9457375 9457375 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:9457375C>T ENST00000378501.2 + 35 3486 c.3471C>T c.(3469-3471)tcC>tcT p.S1157S PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000334005.3_Silent_p.S1157S|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 490 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 TTTTGAAATCCTGTCATGCAG 0.368000 8 33 0 0 0.003080 0 0 BRAT1 221927 broad.mit.edu 37 7 2579448 2579448 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:2579448G>A ENST00000340611.4 - 11 1726 c.1470C>T c.(1468-1470)ctC>ctT p.L490L BRAT1_ENST00000473879.1_5'UTR NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 490 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 TGAGGGGGCCGAGATCAGAGC 0.652000 4 40 0 0 0.000602 0 0 CR1 1378 broad.mit.edu 37 1 207758069 207758069 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:207758069G>A ENST00000367049.4 + 33 5378 c.5378G>A c.(5377-5379)gGa>gAa p.G1793E RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.G1343E|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.G1343E|CR1_ENST00000367051.1_Missense_Mutation_p.G1343E|CR1_ENST00000367052.1_Missense_Mutation_p.G1343E NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1343 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATTCCCTATGGAAAAGAAATA 0.473000 57 115 0 0 0.014410 0 0 KRT71 112802 broad.mit.edu 37 12 52943127 52943127 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52943127C>T ENST00000267119.5 - 3 736 c.667G>A c.(667-669)Gaa>Aaa p.E223K NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 223 Coil 1B.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) TTGTTGATTTCCTCCTCATAC 0.572000 54 220 0 0 0.014410 0 0 ZNF135 7694 broad.mit.edu 37 19 58579314 58579314 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:58579314C>T ENST00000506786.1 + 5 1890 c.1336C>T c.(1336-1338)Cac>Tac p.H446Y ZNF135_ENST00000439855.2_Missense_Mutation_p.H488Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H512Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H488Y|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.H500Y B4DHH9 B4DHH9_HUMAN zinc finger protein 135 500 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CCAGCGAATCCACACAGGGGA 0.572000 15 43 0 0 0.003163 0 0 DNAJC21 134218 broad.mit.edu 37 5 34936318 34936318 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:34936318G>A ENST00000382021.2 + 4 612 c.385G>A c.(385-387)Gaa>Aaa p.E129K DNAJC21_ENST00000303525.7_Missense_Mutation_p.E129K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E129K NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 129 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TGTGTTAGAGGAAGAGGTTGA 0.328000 59 184 0 0 0.014410 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066861 40066861 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:40066861C>T ENST00000336649.4 + 29 4459 c.4459C>T c.(4459-4461)Cac>Tac p.H1487Y CACNA1I_ENST00000404898.1_Missense_Mutation_p.H1446Y|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H1481Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H1446Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H1481Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H1446Y Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1481 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCTGCTCATCCACTCCATGTG 0.587000 66 273 0 0 0.014410 0 0 RYR1 6261 broad.mit.edu 37 19 38976621 38976621 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:38976621C>T ENST00000355481.4 + 34 5457 c.5326C>T c.(5326-5328)Cat>Tat p.H1776Y RYR1_ENST00000360985.3_Missense_Mutation_p.H1776Y|RYR1_ENST00000359596.3_Missense_Mutation_p.H1776Y NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1776 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCCCCCGCATCATTTCTCGCC 0.687000 46 50 0 0 0.014410 0 0 SOCS5 9655 broad.mit.edu 37 2 46987134 46987134 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:46987134C>T ENST00000306503.5 + 2 1637 c.1465C>T c.(1465-1467)Cgc>Tgc p.R489C SOCS5_ENST00000394861.2_Missense_Mutation_p.R489C NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 489 SOCS box. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GTATATCTGTCGCGCGGTAAT 0.373000 23 65 0 0 0.002780 0 0 CNGB3 54714 broad.mit.edu 37 8 87683207 87683207 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:87683207C>T ENST00000320005.5 - 4 505 c.458G>A c.(457-459)gGa>gAa p.G153E NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 153 signal transduction|visual perception integral to membrane cGMP binding p.G153V(1) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GGAGAGATCTCCCTCTACCAA 0.493000 63 215 0 0 0.014410 0 0 APOB 338 broad.mit.edu 37 2 21229889 21229889 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:21229889G>A ENST00000233242.1 - 26 9978 c.9851C>T c.(9850-9852)tCc>tTc p.S3284F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3284 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) ACCTAGGATGGAGAAACTAGG 0.458000 49 59 0 0 0.014410 0 0 TUSC2 11334 broad.mit.edu 37 3 50363596 50363596 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:50363596G>A ENST00000232496.4 - 3 432 c.289C>T c.(289-291)Ccc>Tcc p.P97S TUSC2_ENST00000462137.1_Intron NM_007275.1 NP_009206.1 O75896 TUSC2_HUMAN tumor suppressor candidate 2 97 cell cycle|cell proliferation|cell-cell signaling protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGGATGCGGGGGTGATCCAGC 0.592000 8 14 0 0 0.006214 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808729 18808729 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:18808729C>T ENST00000400664.1 + 1 1306 c.1254C>T c.(1252-1254)atC>atT p.I418I NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 418 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) TCTTCCATATCCCGCTCACCC 0.652000 51 83 0 0 0.014410 0 0 FAN1 22909 broad.mit.edu 37 15 31196961 31196961 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:31196961C>T ENST00000362065.4 + 2 386 c.95C>T c.(94-96)tCg>tTg p.S32L FAN1_ENST00000565466.1_Missense_Mutation_p.S32L|FAN1_ENST00000561607.1_Missense_Mutation_p.S32L|FAN1_ENST00000561594.1_Missense_Mutation_p.S32L NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 32 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 TCTATTATTTCGTGTTTTAAC 0.398000 Direct reversal of damage 50 115 0 0 0.014410 0 0 SPG11 80208 broad.mit.edu 37 15 44887479 44887479 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:44887479C>T ENST00000261866.7 - 26 4629 c.4613G>A c.(4612-4614)aGa>aAa p.R1538K SPG11_ENST00000558319.1_Missense_Mutation_p.R1538K|SPG11_ENST00000535302.2_Missense_Mutation_p.R1538K|SPG11_ENST00000427534.2_Missense_Mutation_p.R1538K NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1538 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CTGGAAACCTCTGATGAGAGT 0.393000 27 89 0 0 0.006320 0 0 RIT1 6016 broad.mit.edu 37 1 155874197 155874197 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:155874197G>A ENST00000368323.3 - 5 538 c.334C>T c.(334-336)Cgt>Tgt p.R112C RIT1_ENST00000539040.1_Missense_Mutation_p.R76C|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Missense_Mutation_p.R129C NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 112 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity p.R112C(1) breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) TTAAACTCACGAACTTCATGG 0.463000 43 66 0 0 0.010771 0 0 TMTC4 84899 broad.mit.edu 37 13 101287406 101287406 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:101287406G>A ENST00000342624.5 - 11 1504 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S TMTC4_ENST00000376234.3_Missense_Mutation_p.P397S|TMTC4_ENST00000328767.5_Missense_Mutation_p.P286S|TMTC4_ENST00000462211.1_5'UTR NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 397 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTACTCGCGGGGAGAAATGGG 0.488000 23 17 0 0 0.003330 0 0 BEND2 139105 broad.mit.edu 37 X 18234812 18234812 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:18234812C>T ENST00000380033.4 - 2 199 c.67G>A c.(67-69)Gat>Aat p.D23N BEND2_ENST00000380030.3_Missense_Mutation_p.D23N NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 23 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 ATACTGCAATCATTGTTATCA 0.338000 27 43 0 0 0.003954 0 0 IFNA7 3444 broad.mit.edu 37 9 21201635 21201635 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:21201635A>G ENST00000239347.3 - 1 569 c.530T>C c.(529-531)tTt>tCt p.F177S NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 177 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GTTTGTTGAAAAAGAGAAGGA 0.373000 65 222 0 0 0.014410 0 0 ETNK1 55500 broad.mit.edu 37 12 22811976 22811976 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:22811976C>T ENST00000266517.4 + 3 801 c.712C>T c.(712-714)Cat>Tat p.H238Y NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 238 RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111). phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGCTAAAATCCATGCTATTCA 0.378000 14 42 0 0 0.004007 0 0 NBEAP1 606 broad.mit.edu 37 15 20874833 20874833 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:20874833G>A ENST00000556948.1 - 0 415 CTGTCAGCAGGATTAATAACC 0.343000 12 104 0 0 0.013537 0 0 TMEM184B 25829 broad.mit.edu 37 22 38627283 38627283 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:38627283G>A ENST00000361906.3 - 4 624 c.416C>T c.(415-417)tCc>tTc p.S139F TMEM184B_ENST00000464059.1_5'UTR|TMEM184B_ENST00000361684.4_Missense_Mutation_p.S139F NM_001195072.1|NM_012264.4 NP_001182001.1|NP_036396.2 Q9Y519 T184B_HUMAN transmembrane protein 184B 139 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) CGACATGATGGAACTTTCTCC 0.507000 133 230 0 0 0.014410 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263676 140263676 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140263676C>T ENST00000289272.2 + 1 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S608L|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTATGAATTG 0.682000 74 126 0 0 0.014410 0 0 SVOPL 136306 broad.mit.edu 37 7 138312185 138312185 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:138312185C>T ENST00000421622.1 - 8 939 c.731G>A c.(730-732)gGc>gAc p.G244D SVOPL_ENST00000288513.5_Missense_Mutation_p.G212D|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000419765.3_Missense_Mutation_p.G364D|SVOPL_ENST00000436657.1_Missense_Mutation_p.G212D Q8N434 SVOPL_HUMAN SVOP-like 364 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GAAATTGATGCCCAGTATATT 0.418000 11 53 0 0 0.001855 0 0 ANXA10 11199 broad.mit.edu 37 4 169049279 169049279 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:169049279G>A ENST00000359299.3 + 2 249 c.63G>A c.(61-63)atG>atA p.M21I NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 21 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) ATCCCATAATGGATGCCCAAA 0.363000 21 22 0 0 0.003330 0 0 PLCB1 23236 broad.mit.edu 37 20 8665694 8665694 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:8665694C>T ENST00000378641.3 + 10 1453 c.978C>T c.(976-978)ttC>ttT p.F326F PLCB1_ENST00000378637.2_Silent_p.F326F|PLCB1_ENST00000338037.6_Silent_p.F326F NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 326 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTCACTATTTCATTAATTCCT 0.413000 81 223 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10081882 10081882 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:10081882G>A ENST00000264828.3 - 52 3912 c.3828_splice c.e52+1 p.S1276_splice NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1276 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACACTCACTGAAACTCCAGG 0.542000 14 57 0 0 0.007413 0 0 NALCN 259232 broad.mit.edu 37 13 101755619 101755619 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:101755619G>A ENST00000251127.6 - 26 3042 c.2961C>T c.(2959-2961)gtC>gtT p.V987V NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 987 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCACCGAAGGACCATTAGAA 0.443000 61 36 0 0 0.014410 0 0 SYNE2 23224 broad.mit.edu 37 14 64593101 64593101 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:64593101C>T ENST00000357395.3 + 73 13910 c.2766C>T c.(2764-2766)ttC>ttT p.F922F ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.F1171F|SYNE2_ENST00000394768.2_Silent_p.F922F|SYNE2_ENST00000358025.3_Silent_p.F4537F|SYNE2_ENST00000554584.1_Silent_p.F4488F|SYNE2_ENST00000344113.4_Silent_p.F4537F Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4537 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTGAACTATTCCTGACCCTCA 0.418000 25 46 0 0 0.005443 0 0 CCDC39 339829 broad.mit.edu 37 3 180359974 180359974 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:180359974C>T ENST00000273654.4 - 19 2552 c.1933G>A c.(1933-1935)Gac>Aac p.D645N CCDC39_ENST00000442201.2_Missense_Mutation_p.D561N Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 561 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAAAGATTGTCCTCTATCATC 0.284000 8 30 0 0 0.003080 0 0 STYK1 55359 broad.mit.edu 37 12 10787204 10787204 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:10787204C>T ENST00000075503.3 - 3 534 c.14G>A c.(13-15)cGg>cAg p.R5Q NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 5 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CAGGAGCATCCGTGTCATGCC 0.488000 HNSCC(73;0.22) 14 71 0 0 0.004007 0 0 NKD1 85407 broad.mit.edu 37 16 50667136 50667136 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:50667136C>T ENST00000268459.3 + 10 1081 c.857C>T c.(856-858)cCc>cTc p.P286L NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 286 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TCAGAACTGCCCCCCCGCACC 0.602000 24 116 0 0 0.014323 0 0 CRLF1 9244 broad.mit.edu 37 19 18705159 18705159 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:18705159G>T ENST00000392386.3 - 7 1303 c.1110C>A c.(1108-1110)ttC>ttA p.F370L CRLF1_ENST00000594325.1_5'UTR NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 370 negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 GCCAGCCCAGGAACTGCTTGA 0.711000 31 39 1.08312e-15 1.10571e-15 0.009535 1 0 HELZ2 85441 broad.mit.edu 37 20 62195150 62195150 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:62195150G>A ENST00000467148.1 - 8 5094 c.5025C>T c.(5023-5025)atC>atT p.I1675I HELZ2_ENST00000427522.2_Silent_p.I1106I NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGTACCTGCGGATGGGCGAGG 0.701000 10 25 0 0 0.010729 0 0 CD300C 10871 broad.mit.edu 37 17 72539092 72539092 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:72539092G>A ENST00000330793.1 - 3 795 c.435C>T c.(433-435)tcC>tcT p.S145S NM_006678.3 NP_006669.1 Q08708 CLM6_HUMAN CD300c molecule 145 Pro-rich. cellular defense response integral to plasma membrane transmembrane receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1) 21 AGGTGCCCATGGAGCTCTGGG 0.622000 47 120 0 0 0.014410 0 0 BRINP3 339479 broad.mit.edu 37 1 190423983 190423983 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:190423983G>A ENST00000367462.3 - 2 269 c.38C>T c.(37-39)tCt>tTt p.S13F FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 13 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGCCATCAGAGAGAACAATTC 0.498000 15 42 0 0 0.007413 0 0 ENAM 10117 broad.mit.edu 37 4 71509961 71509961 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:71509961G>A ENST00000396073.3 + 9 3099 c.2818G>A c.(2818-2820)Gaa>Aaa p.E940K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 940 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGAGAAGAGGGAAAGCCAAAA 0.458000 27 60 0 0 0.005443 0 0 CFHR4 10877 broad.mit.edu 37 1 196876504 196876504 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:196876504C>T ENST00000367416.2 + 5 809 c.672C>T c.(670-672)ttC>ttT p.F224F CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.F224F(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 CCACGTCCTTCCCGCAAAAAG 0.408000 36 42 0 0 0.004289 0 0 CR1 1378 broad.mit.edu 37 1 207789919 207789919 + Splice_Site SNP G G A rs55638044 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:207789919G>A ENST00000367049.4 + 41 6661 c.e41-1 CR1_ENST00000367053.1_Splice_Site|CR1_ENST00000400960.2_Splice_Site|CR1_ENST00000367051.1_Splice_Site|CR1_ENST00000367052.1_Splice_Site NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTTCTTTCTAGAAATCTTTTG 0.358000 58 117 0 0 0.014410 0 0 TNXB 7148 broad.mit.edu 37 6 32010301 32010301 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32010301G>A ENST00000375244.3 - 40 12342 c.12141C>T c.(12139-12141)ttC>ttT p.F4047F TNXB_ENST00000375247.2_Silent_p.F4045F|TNXB_ENST00000451343.1_Silent_p.F476F P22105 TENX_HUMAN tenascin XB 4092 Fibronectin type-III 32. 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 TGCCGTTGAGGAAGATGGTGC 0.662000 62 205 0 0 0.014410 0 0 PTPRF 5792 broad.mit.edu 37 1 44084328 44084328 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:44084328C>T ENST00000359947.4 + 26 4739 c.4399C>T c.(4399-4401)Cgt>Tgt p.R1467C PTPRF_ENST00000438120.1_Missense_Mutation_p.R1458C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1458C|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1467C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R826C|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1467 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGGCCAGCCCGTGGCACCGA 0.597000 65 155 0 0 0.014410 0 0 ENAM 10117 broad.mit.edu 37 4 71500027 71500027 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:71500027G>A ENST00000396073.3 + 6 494 c.213G>A c.(211-213)atG>atA p.M71I NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 71 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CCTTTCAGATGGCACACCTGG 0.493000 25 163 0 0 0.005443 0 0 PSG9 5678 broad.mit.edu 37 19 43762387 43762387 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:43762387C>T ENST00000244293.7 - 4 997 c.931G>A c.(931-933)Gaa>Aaa p.E311K PSG9_ENST00000443718.3_Missense_Mutation_p.E311K|PSG9_ENST00000596730.1_Missense_Mutation_p.E218K|PSG9_ENST00000270077.3_Missense_Mutation_p.E404K|PSG9_ENST00000418820.2_Missense_Mutation_p.E311K|PSG9_ENST00000291752.5_Missense_Mutation_p.E218K|PSG9_ENST00000593948.1_Missense_Mutation_p.E311K Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 404 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTGGAGATTTCCTTGCCAGTG 0.448000 104 170 0 0 0.014410 0 0 ABCA1 19 broad.mit.edu 37 9 107568612 107568612 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:107568612G>A ENST00000374736.3 - 31 4768 c.4374C>T c.(4372-4374)aaC>aaT p.N1458N NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1458 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGGTGAAGGGTTCTGCATTG 0.592000 27 58 0 0 0.003954 0 0 SSX6 280657 broad.mit.edu 37 X 47979002 47979002 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:47979002G>A ENST00000319275.3 + 7 625 c.259G>A c.(259-261)Gaa>Aaa p.E87K SSX6_ENST00000376932.2_Missense_Mutation_p.E185K large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 CGACCCTGAGGAAGATGACAA 0.493000 181 297 0 0 0.014410 0 0 LRWD1 222229 broad.mit.edu 37 7 102113410 102113410 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:102113410G>A ENST00000292616.5 + 15 2010 c.1858G>A c.(1858-1860)Gtg>Atg p.V620M NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 620 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 CAAGACCATGGTGAACACAGT 0.632000 49 134 0 0 0.014410 0 0 OR13C9 286362 broad.mit.edu 37 9 107380314 107380314 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:107380314G>A ENST00000259362.1 - 1 171 c.172C>T c.(172-174)Cct>Tct p.P58S NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 AAGTACATAGGGGTGTGAAGG 0.443000 26 68 0 0 0.005443 0 0 MUC16 94025 broad.mit.edu 37 19 9065098 9065098 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9065098T>C ENST00000397910.4 - 3 22551 c.22348A>G c.(22348-22350)Agt>Ggt p.S7450G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7452 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 CTGCTCAAACTTGGAGGTGAA 0.483000 37 110 0 0 0.006999 0 0 CCR9 10803 broad.mit.edu 37 3 45943267 45943267 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:45943267G>A ENST00000357632.2 + 3 1167 c.987G>A c.(985-987)gtG>gtA p.V329V LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Silent_p.V317V|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000355983.2_Silent_p.V317V|LZTFL1_ENST00000539217.1_Intron NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 329 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) GGGATCTCGTGAAAACCCTGA 0.512000 32 85 0 0 0.013726 0 0 DOCK3 1795 broad.mit.edu 37 3 51196700 51196700 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:51196700G>A ENST00000266037.9 + 11 877 c.854G>A c.(853-855)aGa>aAa p.R285K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 285 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) GATATGAAGAGAGATTTGTAT 0.358000 67 92 0 0 0.014410 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956034 18956034 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:18956034G>A ENST00000302797.3 - 1 522 c.298C>T c.(298-300)Cct>Tct p.P100S MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 100 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATCATCACAGGATAGAGGATT 0.537000 68 284 0 0 0.014410 0 0 HEG1 57493 broad.mit.edu 37 3 124732623 124732623 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:124732623G>A ENST00000311127.4 - 6 1867 c.1800C>T c.(1798-1800)tcC>tcT p.S600S HEG1_ENST00000477536.1_5'UTR NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 600 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CATGAAAAAAGGAGGAATACT 0.413000 31 72 0 0 0.008361 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167266 130167266 + Silent SNP C C T rs144432732 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:130167266C>T ENST00000373371.3 + 8 1235 c.1146C>T c.(1144-1146)atC>atT p.I382I SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Silent_p.I382I|SLC2A8_ENST00000373352.1_Silent_p.I119I NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 382 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 GCCTCTTCATCGCCGGTAAGG 0.701000 33 84 0 0 0.003755 0 0 NLRP13 126204 broad.mit.edu 37 19 56424166 56424166 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56424166G>A ENST00000588751.1 - 5 1041 c.1017C>T c.(1015-1017)ctC>ctT p.L339L NLRP13_ENST00000342929.3_Silent_p.L339L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 339 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) TGGTCACTGGGAGCTCCTGGT 0.453000 37 60 0 0 0.005524 0 0 VASN 114990 broad.mit.edu 37 16 4431686 4431686 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:4431686G>A ENST00000304735.3 + 2 963 c.808G>A c.(808-810)Gat>Aat p.D270N CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 270 extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 GCAGGAGCTGGATGTGAGCAA 0.726000 10 25 0 0 0.008291 0 0 MYOM3 127294 broad.mit.edu 37 1 24400740 24400740 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:24400740C>T ENST00000330966.7 - 23 3043 c.2881G>A c.(2881-2883)Gaa>Aaa p.E961K RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.E960K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E960K Q5VTT5 MYOM3_HUMAN myomesin 3 960 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AGGCCGGGTTCTTTCAGGATG 0.582000 47 124 0 0 0.014410 0 0 ANGPT1 284 broad.mit.edu 37 8 108264161 108264161 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:108264161C>T ENST00000520734.1 - 8 1104 c.819G>A c.(817-819)ggG>ggA p.G273G ANGPT1_ENST00000520052.1_Silent_p.G272G|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 473 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GCCACTTTATCCCATTCAGTT 0.408000 37 84 0 0 0.006230 0 0 LY9 4063 broad.mit.edu 37 1 160766091 160766091 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:160766091C>T ENST00000263285.5 + 1 144 c.114C>T c.(112-114)ttC>ttT p.F38F LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Silent_p.F38F|LY9_ENST00000341032.4_Silent_p.F38F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 38 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) CTCTCCTCTTCCTGCTCATGG 0.493000 134 213 0 0 0.014410 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885827 88885827 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:88885827G>A ENST00000319675.3 - 1 469 c.373C>T c.(373-375)Cgg>Tgg p.R125W NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 125 p.R125W(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TTCACCTTCCGATTAGGGACG 0.557000 28 101 0 0 0.008361 0 0 ANK3 288 broad.mit.edu 37 10 61831431 61831431 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:61831431G>A ENST00000280772.1 - 37 9399 c.9208C>T c.(9208-9210)Ccc>Tcc p.P3070S 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) 3070 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 CCATCAATGGGACTGTGGTCG 0.463000 46 70 0 0 0.014410 0 0 CACNA1C 775 broad.mit.edu 37 12 2621981 2621981 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:2621981G>A ENST00000399655.1 + 9 1486 c.1221G>A c.(1219-1221)gaG>gaA p.E407E CACNA1C_ENST00000399597.1_Silent_p.E407E|CACNA1C_ENST00000399621.1_Silent_p.E407E|CACNA1C_ENST00000327702.7_Silent_p.E407E|CACNA1C_ENST00000347598.4_Silent_p.E407E|CACNA1C_ENST00000399641.1_Silent_p.E407E|CACNA1C_ENST00000399634.1_Silent_p.E407E|CACNA1C_ENST00000399591.1_Silent_p.E407E|CACNA1C_ENST00000399606.1_Silent_p.E407E|CACNA1C_ENST00000399595.1_Silent_p.E407E|CACNA1C_ENST00000399638.1_Silent_p.E407E|CACNA1C_ENST00000399603.1_Silent_p.E407E|CACNA1C_ENST00000402845.3_Silent_p.E407E|CACNA1C_ENST00000480911.1_Silent_p.E407E|CACNA1C_ENST00000399601.1_Silent_p.E407E|CACNA1C_ENST00000335762.5_Silent_p.E407E|CACNA1C_ENST00000399649.1_Silent_p.E407E|CACNA1C_ENST00000399644.1_Silent_p.E407E|CACNA1C_ENST00000399637.1_Silent_p.E407E|CACNA1C_ENST00000399629.1_Silent_p.E407E|CACNA1C_ENST00000406454.3_Silent_p.E407E|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399617.1_Silent_p.E407E|CACNA1C_ENST00000344100.3_Silent_p.E407E 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 407 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) TCACCAGAGAGTTTTCCAAAG 0.562000 8 22 0 0 0.003080 0 0 FMO1 2326 broad.mit.edu 37 1 171251419 171251419 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:171251419C>T ENST00000354841.4 + 6 1261 c.1130C>T c.(1129-1131)tCc>tTc p.S377F FMO1_ENST00000402921.2_Missense_Mutation_p.S314F|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.S377F Q01740 FMO1_HUMAN flavin containing monooxygenase 1 377 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCCTTGGGCTCCATGATACCT 0.478000 17 84 0 0 0.007413 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869676 50869676 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:50869676C>T ENST00000359139.3 + 11 1594 c.1200C>T c.(1198-1200)tcC>tcT p.S400S PPP6R2_ENST00000395741.3_Silent_p.S401S|PPP6R2_ENST00000395744.3_Silent_p.S400S|PPP6R2_ENST00000216061.5_Silent_p.S400S NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 400 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CTATTCTCTCCCACGCTGCCC 0.557000 189 294 0 0 0.014410 0 0 SORCS3 22986 broad.mit.edu 37 10 107005328 107005328 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:107005328C>T ENST00000369701.3 + 21 3124 c.2897C>T c.(2896-2898)tCc>tTc p.S966F SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 966 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGCAGCATTTCCTTCACATTC 0.448000 59 81 0 0 0.014410 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999393 112999393 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:112999393C>T ENST00000271277.6 + 6 1504 c.1279C>T c.(1279-1281)Cct>Tct p.P427S NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 427 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACATCCTCTCCTTGCTCTTC 0.557000 139 725 0 0 0.014410 0 0 OR4K2 390431 broad.mit.edu 37 14 20345023 20345023 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20345023G>A ENST00000298642.2 + 1 633 c.597G>A c.(595-597)atG>atA p.M199I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCTCTTTATGATCTCAACAA 0.403000 91 372 0 0 0.014410 0 0 TYR 7299 broad.mit.edu 37 11 88911834 88911834 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:88911834G>A ENST00000263321.5 + 1 1215 c.713G>A c.(712-714)tGg>tAg p.W238* TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 238 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TATTGGGACTGGCGGGATGCA 0.473000 53 55 0 0 0.014410 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189193 7189193 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7189193A>G ENST00000317370.8 + 10 1560 c.1292A>G c.(1291-1293)aAc>aGc p.N431S SLC2A4_ENST00000424875.2_Missense_Mutation_p.N421S|SLC2A4_ENST00000571308.1_Missense_Mutation_p.N431S NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 431 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 TGGACGAGCAACTTCATCATT 0.637000 39 51 0 0 0.008740 0 0 SLC22A4 6583 broad.mit.edu 37 5 131647922 131647922 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:131647922C>T ENST00000200652.3 + 2 636 c.462C>T c.(460-462)ctC>ctT p.L154L SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 154 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TAGGCGTGCTCCTCGGCTCCT 0.597000 72 86 0 0 0.014410 0 0 WDR27 253769 broad.mit.edu 37 6 170002355 170002355 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:170002355G>A ENST00000333572.6 - 23 2903 c.2384C>T c.(2383-2385)cCt>cTt p.P795L WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.P795L|WDR27_ENST00000423258.1_Missense_Mutation_p.P668L A2RRH5 WDR27_HUMAN WD repeat domain 27 765 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) TCGTCCACAAGGACTGAAAGC 0.483000 3 5 0 0 0.009096 0 0 SI 6476 broad.mit.edu 37 3 164735827 164735827 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:164735827G>A ENST00000264382.3 - 29 3513 c.3451C>T c.(3451-3453)Ccc>Tcc p.P1151S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1151 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) ATGTAATAGGGATGAAATCCA 0.313000 HNSCC(35;0.089) 11 46 0 0 0.013537 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353911 77353911 + Silent SNP G G A rs145904992 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:77353911G>A ENST00000282849.5 - 16 2785 c.2367C>T c.(2365-2367)ctC>ctT p.L789L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 789 Spacer. 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 TTCGAACTGCGAGGTAACTGG 0.537000 16 35 0 0 0.003163 0 0 ATG9B 285973 broad.mit.edu 37 7 150721147 150721147 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:150721147G>A ENST00000605938.1 - 1 439 c.364C>T c.(364-366)Ctg>Ttg p.L122L ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.L122L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605952.1_Silent_p.L122L NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 122 Pro-rich. autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCGGGGCCAGGGGTGGGGTG 0.647000 9 26 0 0 0.004482 0 0 FAT1 2195 broad.mit.edu 37 4 187517878 187517878 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:187517878G>A ENST00000441802.2 - 25 13025 c.12816C>T c.(12814-12816)tcC>tcT p.S4272S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4272 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 ATCCTTCGAAGGAATTTCGGT 0.532000 HNSCC(5;0.00058) 13 49 0 0 0.003163 0 0 DNMT3L 29947 broad.mit.edu 37 21 45679415 45679415 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:45679415G>A ENST00000270172.3 - 5 732 c.249C>T c.(247-249)gcC>gcT p.A83A DNMT3L_ENST00000418993.1_Silent_p.A83A NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 83 ADD. DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) ACAGGAAGAGGGCATCCAGGA 0.592000 44 108 0 0 0.014410 0 0 OR10G7 390265 broad.mit.edu 37 11 123909203 123909203 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:123909203C>T ENST00000330487.5 - 1 514 c.506G>A c.(505-507)gGa>gAa p.G169E NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTGGTTGGGTCCACAGTAGGG 0.557000 78 127 0 0 0.014410 0 0 DDX27 55661 broad.mit.edu 37 20 47850127 47850127 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:47850127C>T ENST00000371764.4 + 11 1256 c.1247C>T c.(1246-1248)tCc>tTc p.S416F DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 416 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCTTCTGTCTCCTTGAAGAAT 0.542000 102 249 0 0 0.014410 0 0 EYA4 2070 broad.mit.edu 37 6 133767775 133767775 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:133767775G>A ENST00000367895.5 + 4 555 c.91G>A c.(91-93)Gaa>Aaa p.E31K EYA4_ENST00000525849.1_Missense_Mutation_p.E31K|EYA4_ENST00000355167.3_Missense_Mutation_p.E31K|EYA4_ENST00000355286.6_Missense_Mutation_p.E31K|EYA4_ENST00000430974.2_Missense_Mutation_p.E31K|EYA4_ENST00000452339.2_Missense_Mutation_p.E31K|EYA4_ENST00000431403.2_Missense_Mutation_p.E31K|EYA4_ENST00000531901.1_Missense_Mutation_p.E31K NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 31 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGGTCTATGGAAATGCAGGA 0.398000 35 51 0 0 0.005524 0 0 CHI3L1 1116 broad.mit.edu 37 1 203152895 203152895 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:203152895G>A ENST00000255409.3 - 5 464 c.339C>T c.(337-339)acC>acT p.T113T NM_001276.2 NP_001267.2 P36222 CH3L1_HUMAN chitinase 3-like 1 (cartilage glycoprotein-39) 113 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1) 18 GGCGACTCTGGGTGTTGGAGG 0.552000 40 117 0 0 0.014410 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216338 4216338 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:4216338C>T ENST00000600132.1 + 17 1604 c.1328C>T c.(1327-1329)tCg>tTg p.S443L ANKRD24_ENST00000595096.1_3'UTR|ANKRD24_ENST00000318934.4_Missense_Mutation_p.S443L|ANKRD24_ENST00000262970.5_Missense_Mutation_p.S533L NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 443 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CACCTGGCCTCGCTGCAGGAA 0.632000 5 7 0 0 0.001168 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878173 24878173 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24878173C>T ENST00000382554.3 + 4 1491 c.1173C>T c.(1171-1173)ccC>ccT p.P391P NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 391 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TCAATTTCCCCTTCTGGCAGA 0.562000 17 43 0 0 0.004007 0 0 CASZ1 54897 broad.mit.edu 37 1 10725204 10725204 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:10725204C>T ENST00000377022.3 - 5 758 c.441G>A c.(439-441)gaG>gaA p.E147E CASZ1_ENST00000344008.5_Silent_p.E147E|CASZ1_ENST00000478728.2_5'UTR NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 147 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) AATCCTTCTCCTCCAGGGCAC 0.677000 23 63 0 0 0.003330 0 0 SLC4A1 6521 broad.mit.edu 37 17 42340052 42340052 + Missense_Mutation SNP C C T rs56366151 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:42340052C>T ENST00000262418.6 - 3 213 c.58G>A c.(58-60)Gaa>Aaa p.E20K AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 20 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTTCATATTCCTCCTGCTCC 0.597000 16 52 0 0 0.004007 0 0 HPSE 10855 broad.mit.edu 37 4 84234441 84234441 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:84234441C>T ENST00000405413.2 - 5 636 c.e5-1 HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Splice_Site|HPSE_ENST00000512196.1_Splice_Site NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) ACAGAGCTTCCTAAAAGAAAA 0.378000 25 46 0 0 0.004656 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572734 140572734 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140572734G>A ENST00000239446.4 + 1 793 c.609G>A c.(607-609)gaG>gaA p.E203E NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 203 Cadherin 2. 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) TGGATCGGGAGGAGCAGGGAG 0.512000 109 190 0 0 0.014410 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382381 101382381 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:101382381G>A ENST00000372780.1 + 3 798 c.579G>A c.(577-579)tgG>tgA p.W193* TCEAL2_ENST00000329035.2_Nonsense_Mutation_p.W193* NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 CGTTTTTGTGGATGCAAAGAA 0.463000 113 203 0 0 0.014410 0 0 ABAT 18 broad.mit.edu 37 16 8839922 8839922 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:8839922G>A ENST00000396600.2 + 3 1073 c.135G>A c.(133-135)ctG>ctA p.L45L ABAT_ENST00000268251.8_Silent_p.L45L|ABAT_ENST00000425191.2_Silent_p.L45L|ABAT_ENST00000567812.1_Silent_p.L60L|ABAT_ENST00000569156.1_Silent_p.L45L NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 45 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ATGGGCCTCTGATGAAGACGG 0.473000 12 74 0 0 0.002450 0 0 ABCB1 5243 broad.mit.edu 37 7 87179492 87179492 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:87179492C>T ENST00000265724.3 - 13 1762 c.1345G>A c.(1345-1347)Ggg>Agg p.G449R ABCB1_ENST00000543898.1_Missense_Mutation_p.G385R NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 449 ABC transporter 1. 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) CTCACCATCCCCTCTGTGGGG 0.527000 24 63 0 0 0.003330 0 0 TMEM44 93109 broad.mit.edu 37 3 194337856 194337856 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:194337856G>A ENST00000392432.2 - 7 1101 c.896C>T c.(895-897)tCc>tTc p.S299F TMEM44_ENST00000473092.1_Missense_Mutation_p.S252F|TMEM44_ENST00000347147.4_Missense_Mutation_p.S252F|TMEM44_ENST00000273580.7_Missense_Mutation_p.S252F|TMEM44_ENST00000381975.3_Missense_Mutation_p.S252F NM_001166305.1 NP_001159777.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 299 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) ACGGCCGAGGGAGGTCAGGAA 0.682000 5 7 0 0 0.000602 0 0 OPRK1 4986 broad.mit.edu 37 8 54142358 54142358 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:54142358G>A ENST00000265572.3 - 4 939 c.642C>T c.(640-642)ttC>ttT p.F214F OPRK1_ENST00000520287.1_Silent_p.F214F|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.F125F NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 214 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) CATCATCTGGGAACTGCAAGG 0.478000 17 36 0 0 0.007413 0 0 PDE4D 5144 broad.mit.edu 37 5 59284325 59284325 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:59284325C>T ENST00000502484.2 - 3 485 c.262G>A c.(262-264)Gaa>Aaa p.E88K PDE4D_ENST00000546160.1_Missense_Mutation_p.E88K NM_001165899.1 NP_001159371.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 Pro-rich. signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CCACTGGATTCTGCAGAAGTG 0.443000 23 21 0 0 0.014323 0 0 SSX7 280658 broad.mit.edu 37 X 52681979 52681979 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:52681979G>A ENST00000298181.5 - 3 283 c.125C>T c.(124-126)tCc>tTc p.S42F NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 42 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) TTTCTCCAAGGATTTCATCTT 0.378000 41 78 0 0 0.010771 0 0 C3 718 broad.mit.edu 37 19 6690727 6690727 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:6690727C>T ENST00000245907.6 - 27 3494 c.3402G>A c.(3400-3402)cgG>cgA p.R1134R NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1134 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CGTTGTTGTTCCGTAATCCAC 0.537000 16 44 0 0 0.003163 0 0 CSE1L 1434 broad.mit.edu 37 20 47686748 47686748 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:47686748C>T ENST00000262982.2 + 8 805 c.682C>T c.(682-684)Cct>Tct p.P228S CSE1L_ENST00000396192.3_Missense_Mutation_p.P228S|CSE1L_ENST00000542325.1_Missense_Mutation_p.P11S NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 228 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) GTAGGATCTCCCTGAATTTTT 0.279000 31 98 0 0 0.009535 0 0 LRRC56 115399 broad.mit.edu 37 11 551919 551919 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:551919C>T ENST00000270115.7 + 11 1490 c.990C>T c.(988-990)ctC>ctT p.L330L NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 330 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) 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) GCCAAGTCCTCTGTGGGAACC 0.652000 15 62 0 0 0.004990 0 0 SAGE1 55511 broad.mit.edu 37 X 134993770 134993770 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:134993770G>A ENST00000535938.1 + 18 2346 c.2179G>A c.(2179-2181)Gag>Aag p.E727K SAGE1_ENST00000537770.1_Missense_Mutation_p.E351K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E727K|SAGE1_ENST00000324447.3_Missense_Mutation_p.E727K NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 727 p.E727*(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) CCAGGAGGAGGAGATGGAAAA 0.428000 64 88 0 0 0.014410 0 0 CFHR2 3080 broad.mit.edu 37 1 196918596 196918596 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:196918596G>A ENST00000367415.4 + 2 184 c.70G>A c.(70-72)Gat>Aat p.D24N CFHR2_ENST00000367421.3_Missense_Mutation_p.D24N|CFHR2_ENST00000476712.1_3'UTR NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 24 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AATGTTCTGTGATTTTCCAAA 0.284000 14 43 0 0 0.003163 0 0 PVALB 5816 broad.mit.edu 37 22 37213032 37213032 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:37213032C>T ENST00000216200.5 - 2 73 c.18G>A c.(16-18)ttG>ttA p.L6L PVALB_ENST00000417718.2_Silent_p.L6L|CITF22-24E5.1_ENST00000417792.1_RNA NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 6 calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 CAGCGTTCAGCAAGTCTGTCA 0.567000 25 64 0 0 0.007291 0 0 UNC13B 10497 broad.mit.edu 37 9 35399233 35399233 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:35399233G>A ENST00000378495.3 + 33 4125 c.3903G>A c.(3901-3903)atG>atA p.M1301I UNC13B_ENST00000396787.1_Missense_Mutation_p.M1313I|UNC13B_ENST00000378496.4_Missense_Mutation_p.M1301I NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1301 MHD2. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GCGTGGTGATGAACACAATGG 0.562000 53 120 0 0 0.014410 0 0 KIF7 374654 broad.mit.edu 37 15 90171866 90171866 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:90171866C>T ENST00000394412.3 - 19 3892 c.3816G>A c.(3814-3816)ccG>ccA p.P1272P KIF7_ENST00000558928.1_5'UTR NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1272 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TCAAGGGTAACGGAGCGTGGA 0.697000 48 94 0 0 0.014410 0 0 KRT19 3880 broad.mit.edu 37 17 39681451 39681451 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39681451G>A ENST00000361566.3 - 2 555 c.495C>T c.(493-495)ttC>ttT p.F165F NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) ACTTGGTTCGGAAGTCATCTG 0.567000 68 222 0 0 0.014410 0 0 HSD17B8 7923 broad.mit.edu 37 6 33173925 33173925 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:33173925C>T ENST00000374662.3 + 7 693 c.666C>T c.(664-666)atC>atT p.I222I HSD17B8_ENST00000469186.1_3'UTR NM_014234.4 NP_055049.1 Q92506 DHB8_HUMAN hydroxysteroid (17-beta) dehydrogenase 8 222 estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 9 NADH(DB00157) CTGAAATGATCCCGATGGGAC 0.458000 34 104 0 0 0.004878 0 0 ZNF658 26149 broad.mit.edu 37 9 40772611 40772611 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:40772611C>T ENST00000602553.1 - 5 2958 c.2664G>A c.(2662-2664)ggG>ggA p.G888G ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.G888G Q5TYW1 ZN658_HUMAN zinc finger protein 658 888 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGAAAGTCTTCCCACAGTCAT 0.448000 36 107 0 0 0.014410 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804347 75804347 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:75804347G>A ENST00000550916.1 + 2 415 c.368G>A c.(367-369)gGc>gAc p.G123D GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.G123D|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.G123D|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.G58D|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.G123D|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.G16D NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 123 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 ATGTGGGTCGGCCCTGAAAAT 0.353000 15 41 0 0 0.004990 0 0 KLHL18 23276 broad.mit.edu 37 3 47361193 47361193 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:47361193C>T ENST00000232766.5 + 2 200 c.180C>T c.(178-180)atC>atT p.I60I KLHL18_ENST00000455924.2_Intron NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 60 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CAGCCTCGATCCCGTATTTCC 0.433000 70 231 0 0 0.014410 0 0 NRK 203447 broad.mit.edu 37 X 105150443 105150443 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:105150443G>A ENST00000428173.2 + 11 1185 c.882G>A c.(880-882)acG>acA p.T294T NRK_ENST00000243300.9_Silent_p.T294T Q7Z2Y5 NRK_HUMAN Nik related kinase 294 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AAAAGTGTACGATAAAAAATT 0.378000 HNSCC(51;0.14) 4 5 0 0 0.009096 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908087 164908087 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:164908087G>A ENST00000475390.1 - 2 975 c.532C>T c.(532-534)Ctg>Ttg p.L178L SLITRK3_ENST00000241274.3_Silent_p.L178L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 178 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 TTTAAAATCAGAACCCTCAAT 0.388000 HNSCC(40;0.11) 69 90 0 0 0.014410 0 0 WWC1 23286 broad.mit.edu 37 5 167850906 167850906 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:167850906C>T ENST00000265293.4 + 11 2145 c.1643C>T c.(1642-1644)tCc>tTc p.S548F WWC1_ENST00000521089.1_Missense_Mutation_p.S548F NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 548 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) CCACCCTGTTCCCCTCTCATG 0.612000 55 78 0 0 0.014410 0 0 SLC25A21 89874 broad.mit.edu 37 14 37153057 37153057 + Missense_Mutation SNP G G A rs149535012 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:37153057G>A ENST00000331299.5 - 9 1329 c.814C>T c.(814-816)Ccc>Tcc p.P272S SLC25A21_ENST00000555449.1_Missense_Mutation_p.P272S NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 272 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) ATAATCTTGGGAAGCAGGCCT 0.343000 15 54 0 0 0.006122 0 0 LRRC31 79782 broad.mit.edu 37 3 169574611 169574611 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:169574611C>A ENST00000316428.5 - 4 594 c.537G>T c.(535-537)tgG>tgT p.W179C LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.W123C|LRRC31_ENST00000523069.1_Missense_Mutation_p.W179C NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 179 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CTTTACTGTTCCAAGACAAAT 0.423000 86 112 7.49063e-41 7.68575e-41 0.014410 1 0 TP53 7157 broad.mit.edu 37 17 7578530 7578530 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7578530A>G ENST00000420246.2 - 5 532 c.400T>C c.(400-402)Ttt>Ctt p.F134L TP53_ENST00000269305.4_Missense_Mutation_p.F134L|TP53_ENST00000413465.2_Missense_Mutation_p.F134L|TP53_ENST00000455263.2_Missense_Mutation_p.F134L|TP53_ENST00000359597.4_Missense_Mutation_p.F134L|TP53_ENST00000445888.2_Missense_Mutation_p.F134L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 134 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; 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.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(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) AGTTGGCAAAACATCTTGTTG 0.567000 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) 18 32 0 0 0.010504 0 0 S100PBP 64766 broad.mit.edu 37 1 33291810 33291810 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:33291810C>T ENST00000373475.5 + 3 364 c.110C>T c.(109-111)tCc>tTc p.S37F S100PBP_ENST00000373476.1_Missense_Mutation_p.S37F|S100PBP_ENST00000398243.3_Missense_Mutation_p.S37F|S100PBP_ENST00000356689.3_3'UTR NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 37 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TTGGATGACTCCTTGCTGGAG 0.478000 72 158 0 0 0.014410 0 0 HEPHL1 341208 broad.mit.edu 37 11 93819200 93819200 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:93819200G>A ENST00000315765.9 + 11 1933 c.1925G>A c.(1924-1926)aGa>aAa p.R642K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 642 Plastocyanin-like 4. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AAAAGGGATAGAGTTTCCTGG 0.448000 22 39 0 0 0.005443 0 0 BRPF3 27154 broad.mit.edu 37 6 36179135 36179135 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:36179135C>T ENST00000357641.6 + 7 2533 c.2280C>T c.(2278-2280)tcC>tcT p.S760S BRPF3_ENST00000534400.1_Silent_p.S760S|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000534694.1_Intron NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 760 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CCATGCGGTCCAGTGGGGCCC 0.632000 20 66 0 0 0.008871 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431625 233431625 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:233431625C>T ENST00000409514.1 + 5 504 c.462C>T c.(460-462)gcC>gcT p.A154A EIF4E2_ENST00000409495.1_Silent_p.A154A|EIF4E2_ENST00000409322.1_Silent_p.A109A|EIF4E2_ENST00000258416.3_Silent_p.A154A|EIF4E2_ENST00000409394.1_Silent_p.A109A|EIF4E2_ENST00000409098.1_Silent_p.A154A|EIF4E2_ENST00000409167.3_Silent_p.A109A O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 154 EIF4EBP1/2/3 binding. regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCATTTTGGCCATGCTGGGGG 0.527000 28 96 0 0 0.009535 0 0 ISLR 3671 broad.mit.edu 37 15 74468381 74468381 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:74468381G>A ENST00000249842.3 + 2 1539 c.1182G>A c.(1180-1182)ggG>ggA p.G394G ISLR_ENST00000395118.1_Silent_p.G394G|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 394 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCCGTGCTGGGAACCCTGAGG 0.617000 27 77 0 0 0.009535 0 0 MYOCD 93649 broad.mit.edu 37 17 12656353 12656353 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:12656353C>T ENST00000425538.1 + 10 1948 c.1748C>T c.(1747-1749)tCc>tTc p.S583F MYOCD_ENST00000343344.4_Missense_Mutation_p.S583F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S487F NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 583 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) CCTTTTGCATCCCAAGTACCT 0.517000 38 54 0 0 0.004289 0 0 OR52E4 390081 broad.mit.edu 37 11 5906312 5906312 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5906312C>T ENST00000316987.2 + 1 812 c.790C>T c.(790-792)Cgt>Tgt p.R264C NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGACACATCGTTTTGGCCA 0.428000 10 58 0 0 0.006214 0 0 ACOXL 55289 broad.mit.edu 37 2 111789261 111789261 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:111789261G>A ENST00000389811.4 + 16 1653 c.1429G>A c.(1429-1431)Gct>Act p.A477T ACOXL_ENST00000439055.1_Missense_Mutation_p.A447T Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 477 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity p.A477T(1) kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 GCACCACGTGGCTTCTCTGTC 0.493000 29 63 0 0 0.012213 0 0 PRKD2 25865 broad.mit.edu 37 19 47204181 47204181 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:47204181G>A ENST00000433867.1 - 8 1473 c.996C>T c.(994-996)ttC>ttT p.F332F PRKD2_ENST00000601806.1_Silent_p.F175F|PRKD2_ENST00000291281.4_Silent_p.F332F|PRKD2_ENST00000600194.1_Silent_p.F175F|PRKD2_ENST00000595515.1_Silent_p.F332F NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 332 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CAGCCTCGCTGAAATCGGTGG 0.637000 32 54 0 0 0.003271 0 0 SPTA1 6708 broad.mit.edu 37 1 158606460 158606460 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158606460C>T ENST00000368148.3 - 37 5461 c.5281G>A c.(5281-5283)Gag>Aag p.E1761K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1761K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1761 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) GCCACCAGCTCCCCCTCTAGG 0.463000 46 100 0 0 0.014410 0 0 GPR98 84059 broad.mit.edu 37 5 90084058 90084058 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:90084058C>T ENST00000405460.2 + 68 13920 c.13824C>T c.(13822-13824)ttC>ttT p.F4608F GPR98_ENST00000425867.2_Silent_p.F269F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4608 Calx-beta 31. 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) AAGAGACATTCATTATTAAAC 0.358000 13 34 0 0 0.001855 0 0 MYOM3 127294 broad.mit.edu 37 1 24433675 24433675 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:24433675C>T ENST00000330966.7 - 4 455 c.293G>A c.(292-294)cGa>cAa p.R98Q MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.R97Q|MYOM3_ENST00000374434.3_Missense_Mutation_p.R97Q Q5VTT5 MYOM3_HUMAN myomesin 3 97 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTTCTGCCCTCGCTCCTCCAG 0.682000 5 24 0 0 0.000602 0 0 ZNF750 79755 broad.mit.edu 37 17 80788495 80788495 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:80788495C>T ENST00000269394.3 - 3 2528 c.1695G>A c.(1693-1695)agG>agA p.R565R TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.R166R|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 565 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGAAGGCAGGCCTCGGAGCCT 0.622000 64 146 0 0 0.014410 0 0 FANCI 55215 broad.mit.edu 37 15 89848400 89848400 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:89848400C>T ENST00000310775.7 + 29 3199 c.3113C>T c.(3112-3114)tCg>tTg p.S1038L FANCI_ENST00000300027.8_Missense_Mutation_p.S978L NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1038 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CTGCATGTTTCGTATAAGAGT 0.438000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 80 157 0 0 0.014410 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464316 141464316 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:141464316C>T ENST00000247879.2 + 1 420 c.358C>T c.(358-360)Ctc>Ttc p.L120F SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 120 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) CCCCACATTCCTCTGGCTCAA 0.478000 74 177 0 0 0.014410 0 0 SLC26A9 115019 broad.mit.edu 37 1 205892219 205892219 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:205892219C>T ENST00000367135.3 - 16 1877 c.1764G>A c.(1762-1764)atG>atA p.M588I SLC26A9_ENST00000367134.2_Missense_Mutation_p.M588I|SLC26A9_ENST00000340781.4_Missense_Mutation_p.M588I NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 588 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) CCTTGGTTTTCATGAATAGAG 0.542000 80 140 0 0 0.014410 0 0 BPIFA3 128861 broad.mit.edu 37 20 31814248 31814248 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:31814248C>T ENST00000375454.3 + 5 783 c.573C>T c.(571-573)aaC>aaT p.N191N BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.N155N NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 191 extracellular region lipid binding TTCTCTACAACCTCAAAGAGA 0.428000 34 68 0 0 0.005524 0 0 DCX 1641 broad.mit.edu 37 X 110544971 110544971 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:110544971C>T ENST00000338081.3 - 7 1441 c.1269_splice c.e7-1 p.D424_splice DCX_ENST00000488120.1_Splice_Site_p.D343_splice|DCX_ENST00000356220.3_Splice_Site_p.D348_splice|DCX_ENST00000371993.2_Splice_Site_p.D343_splice|DCX_ENST00000356915.2_Splice_Site_p.D348_splice NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 424 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 AGGTACAGGTCCTATAAGAAG 0.393000 29 39 0 0 0.012213 0 0 HERC2 8924 broad.mit.edu 37 15 28420712 28420712 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:28420712G>A ENST00000261609.7 - 64 9885 c.9777C>T c.(9775-9777)atC>atT p.I3259I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3259 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.I3259I(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCACATGCACGATCTTCTTCC 0.637000 24 49 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9067811 9067811 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9067811G>A ENST00000397910.4 - 3 19838 c.19635C>T c.(19633-19635)ccC>ccT p.P6545P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6547 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 GGCCAGAGGTGGGGAGTGAAG 0.498000 11 27 0 0 0.010729 0 0 SSTR1 6751 broad.mit.edu 37 14 38678629 38678629 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:38678629C>T ENST00000267377.2 + 3 652 c.35C>T c.(34-36)tCc>tTc p.S12F NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 12 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TCTCCTTCCTCCTCTCCTAGC 0.746000 4 22 0 0 0.000602 0 0 KCNK5 8645 broad.mit.edu 37 6 39158965 39158965 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:39158965C>T ENST00000359534.3 - 5 1539 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 401 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGCTCGCATTCCTCGCTGATG 0.627000 30 84 0 0 0.012213 0 0 GLMN 11146 broad.mit.edu 37 1 92755792 92755792 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:92755792G>A ENST00000370360.3 - 5 438 c.357C>T c.(355-357)tcC>tcT p.S119S GLMN_ENST00000534881.1_Silent_p.S119S NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 119 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) GAATACTTTGGGATATCTGTT 0.343000 Multiple Glomus Tumors (of the Skin), Familial 86 88 0 0 0.014410 0 0 PXDN 7837 broad.mit.edu 37 2 1648500 1648500 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:1648500G>A ENST00000252804.4 - 18 3683 c.3633C>T c.(3631-3633)atC>atT p.I1211I NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1211 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.I1211I(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GAAACAGGTCGATGTTGAGTG 0.498000 14 26 0 0 0.003163 0 0 OR6Y1 391112 broad.mit.edu 37 1 158516942 158516942 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158516942C>T ENST00000302617.3 - 1 953 c.954G>A c.(952-954)caG>caA p.Q318Q NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCCCATTTCCCTGGGGCCCAC 0.453000 23 62 0 0 0.014323 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140715 143140715 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:143140715A>G ENST00000332690.1 + 1 170 c.170A>G c.(169-171)aAg>aGg p.K57R EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 57 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CCTTGTGATAAGTTATTGGTT 0.493000 31 76 0 0 0.008361 0 0 UNC13C 440279 broad.mit.edu 37 15 54841850 54841850 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:54841850C>T ENST00000545554.1 + 27 5838 c.5838C>T c.(5836-5838)ttC>ttT p.F1946F UNC13C_ENST00000260323.11_Silent_p.F1946F|UNC13C_ENST00000537900.1_Silent_p.F1944F Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1946 MHD2. 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) AGATGATTTTCATTGCAGCTA 0.328000 32 89 0 0 0.003755 0 0 ADCY1 107 broad.mit.edu 37 7 45726174 45726174 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:45726174G>A ENST00000297323.7 + 14 2378 c.2356G>A c.(2356-2358)Gag>Aag p.E786K NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 786 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) GCGCAGCTACGAGCCGATTGT 0.632000 15 101 0 0 0.004990 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100514720 100514720 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:100514720G>A ENST00000268070.4 - 22 3280 c.3175C>T c.(3175-3177)Cgg>Tgg p.R1059W NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 1059 PLAC. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CGGATGACCCGGCAATATACC 0.567000 56 108 0 0 0.014410 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530474 84530474 + RNA SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:84530474C>G ENST00000527857.1 + 0 496 NR_026851.1 CCCTTTGTGTCCCCTTTGGCT 0.532000 10 41 0 0 0.010729 0 0 GLI2 2736 broad.mit.edu 37 2 121748242 121748242 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:121748242G>A ENST00000452319.1 + 14 4812 c.4752G>A c.(4750-4752)atG>atA p.M1584I GLI2_ENST00000361492.4_Missense_Mutation_p.M1584I P10070 GLI2_HUMAN GLI family zinc finger 2 1584 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) TCCTGAACATGATGACCTAGA 0.602000 45 93 0 0 0.013114 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013462 142013462 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142013462C>T ENST00000390357.3 + 0 346 GAAGACTCAGCCCTGTATCTC 0.572000 45 156 0 0 0.014410 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45711524 45711524 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:45711524C>T ENST00000310806.4 - 4 1314 c.856G>A c.(856-858)Gag>Aag p.E286K MIS18BP1_ENST00000492652.1_5'UTR NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 286 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CTGAGAGTCTCAGCATTAGTA 0.368000 50 114 0 0 0.014410 0 0 SLC38A1 81539 broad.mit.edu 37 12 46591825 46591825 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:46591825C>T ENST00000398637.5 - 15 1835 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K SLC38A1_ENST00000439706.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E381K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E381K NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 381 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TTAGCCAGTTCAAATAAAGAT 0.368000 17 43 0 0 0.004990 0 0 CDH12 1010 broad.mit.edu 37 5 21752268 21752268 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:21752268C>T ENST00000382254.1 - 15 3049 c.1963G>A c.(1963-1965)Gac>Aac p.D655N CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D615N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.D655N NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 655 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D655Y(1)|p.D655H(1) 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 ATGACGTTGTCTCTGATGTCT 0.453000 HNSCC(59;0.17) 27 47 0 0 0.003954 0 0 C16orf59 80178 broad.mit.edu 37 16 2514086 2514086 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:2514086C>T ENST00000569496.1 + 9 1070 c.1011C>T c.(1009-1011)ccC>ccT p.P337P C16orf59_ENST00000563531.1_Silent_p.P337P|C16orf59_ENST00000361837.4_Silent_p.P337P|C16orf59_ENST00000483320.1_Silent_p.P170P Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 337 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) GGAGGCCCCCCGGAGCCTCGC 0.682000 15 48 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179447838 179447838 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179447838T>C ENST00000589042.1 - 313 65916 c.65692A>G c.(65692-65694)Aaa>Gaa p.K21898E TTN_ENST00000591111.1_Missense_Mutation_p.K20257E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K12833E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K12958E|TTN_ENST00000342992.6_Missense_Mutation_p.K19330E|TTN_ENST00000342175.6_Missense_Mutation_p.K13025E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20257 Fibronectin type-III 59. 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) CCATCTTTTTTCCAAGAAACT 0.463000 3 15 0 0 0.000602 0 0 GPR112 139378 broad.mit.edu 37 X 135496359 135496359 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:135496359G>A ENST00000394143.1 + 25 9369 c.9078G>A c.(9076-9078)caG>caA p.Q3026Q GPR112_ENST00000412101.1_Silent_p.Q2821Q|GPR112_ENST00000394141.1_Silent_p.Q2821Q|GPR112_ENST00000370652.1_Silent_p.Q3026Q|GPR112_ENST00000287534.4_Silent_p.Q2745Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3026 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GATATAAACAGGAGGGACTAA 0.378000 47 90 0 0 0.014410 0 0 HAX1 10456 broad.mit.edu 37 1 154245239 154245239 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:154245239C>T ENST00000328703.7 + 1 253 c.40C>T c.(40-42)Cct>Tct p.P14S HAX1_ENST00000457918.2_Missense_Mutation_p.P14S|HAX1_ENST00000532105.1_5'UTR|HAX1_ENST00000483970.2_Missense_Mutation_p.P14S NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 14 Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTTCGGCTTTCCTGGACCTCG 0.567000 Kostmann syndrome 21 110 0 0 0.012319 0 0 ANKS1B 56899 broad.mit.edu 37 12 100169344 100169344 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:100169344G>A ENST00000547776.2 - 7 942 c.943C>T c.(943-945)Cct>Tct p.P315S ANKS1B_ENST00000329257.7_Missense_Mutation_p.P315S|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 315 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) TTTTGGGAAGGAGACTCAACA 0.393000 14 52 0 0 0.004990 0 0 LST3 0 broad.mit.edu 37 12 21175919 21175919 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21175919C>T ENST00000381541.3 + 5 682 c.617C>T c.(616-618)tCc>tTc p.S206F SLCO1B7_ENST00000421593.2_Missense_Mutation_p.S159F|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S206F GGACATTCTTCCTTGTATTTA 0.328000 12 40 0 0 0.010729 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676432 7676432 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:7676432C>T ENST00000446248.2 + 12 1335 c.1234C>T c.(1234-1236)Cat>Tat p.H412Y CAMSAP3_ENST00000160298.4_Missense_Mutation_p.H385Y NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 385 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GTCCATGTCCCATATGGAGGC 0.657000 17 34 0 0 0.004990 0 0 ALX4 60529 broad.mit.edu 37 11 44297126 44297126 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:44297126C>T ENST00000329255.3 - 2 652 c.549G>A c.(547-549)aaG>aaA p.K183K NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 183 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CCCCAGCCTCCTTGACACTCA 0.617000 38 132 0 0 0.005524 0 0 CLEC6A 93978 broad.mit.edu 37 12 8630024 8630024 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:8630024G>A ENST00000382073.3 + 6 780 c.594G>A c.(592-594)agG>agA p.R198R NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 198 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) AAACTAGAAGGAATTCAATAT 0.378000 13 47 0 0 0.001855 0 0 IP6K3 117283 broad.mit.edu 37 6 33694681 33694681 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:33694681G>A ENST00000451316.1 - 5 951 c.416C>T c.(415-417)cCg>cTg p.P139L IP6K3_ENST00000293756.4_Missense_Mutation_p.P139L NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 139 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 AGCCTTGGCCGGGCTGCGGCG 0.627000 54 136 0 0 0.014410 0 0 SSPO 23145 broad.mit.edu 37 7 149490419 149490419 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:149490419G>A ENST00000378016.2 + 0 5895 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCCCTGTGAGGGGTGTGAGC 0.647000 21 51 0 0 0.003330 0 0 OR10K2 391107 broad.mit.edu 37 1 158389972 158389972 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 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 41 0 0 0.003954 0 0 FASLG 356 broad.mit.edu 37 1 172628510 172628510 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:172628510C>T ENST00000367721.2 + 1 353 c.169C>T c.(169-171)Ccg>Tcg p.P57S FASLG_ENST00000340030.3_Missense_Mutation_p.P57S NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 57 Poly-Pro.|Pro-rich. activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 actaccacctccgccgccgcc 0.632000 19 22 0 0 0.007413 0 0 AMPD1 270 broad.mit.edu 37 1 115220063 115220063 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:115220063G>A ENST00000369538.3 - 9 1431 c.1384C>T c.(1384-1386)Cct>Tct p.P462S AMPD1_ENST00000353928.6_Missense_Mutation_p.P433S|AMPD1_ENST00000520113.2_Missense_Mutation_p.P466S NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 433 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) CACTCATCAGGACTGCGGCCA 0.567000 82 90 0 0 0.014410 0 0 TNXB 7148 broad.mit.edu 37 6 32039805 32039805 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:32039805C>T ENST00000375244.3 - 13 5153 c.4952G>A c.(4951-4953)gGg>gAg p.G1651E TNXB_ENST00000375247.2_Missense_Mutation_p.G1651E P22105 TENX_HUMAN tenascin XB 1733 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 GCGTCGTTTCCCATCCTGGAT 0.612000 54 129 0 0 0.014410 0 0 ROBO1 6091 broad.mit.edu 37 3 78710221 78710221 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:78710221C>T ENST00000436010.2 - 14 3159 c.2162G>A c.(2161-2163)gGa>gAa p.G721E ROBO1_ENST00000467549.1_Missense_Mutation_p.G724E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G760E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G724E Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 760 Fibronectin type-III 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACTATCTGCTCCTTGAAATTC 0.388000 10 16 0 0 0.006214 0 0 OR5T3 390154 broad.mit.edu 37 11 56019945 56019945 + Nonsense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56019945T>A ENST00000303059.3 + 1 270 c.270T>A c.(268-270)taT>taA p.Y90* NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) ACCCCATGTATTATTTTCTTA 0.348000 26 38 0 0 0.004656 0 0 ACTN1 87 broad.mit.edu 37 14 69378929 69378929 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:69378929A>T ENST00000193403.6 - 4 754 c.371T>A c.(370-372)cTg>cAg p.L124Q ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Missense_Mutation_p.L59Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.L124Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.L124Q|ACTN1_ENST00000538545.2_Missense_Mutation_p.L124Q NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 124 Actin-binding.|CH 1. 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) GATCATGCCCAGGGTCATCTT 0.537000 OREG0022758 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 139 0 0 0.010771 0 0 IQCA1 79781 broad.mit.edu 37 2 237300635 237300635 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:237300635C>T ENST00000409907.3 - 11 1671 c.1397G>A c.(1396-1398)gGa>gAa p.G466E IQCA1_ENST00000309507.5_Missense_Mutation_p.G462E|IQCA1_ENST00000431676.2_Missense_Mutation_p.G425E|AC019068.2_ENST00000413353.1_RNA Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 466 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CTTTTTCTTTCCTGCTTTCAC 0.498000 93 291 0 0 0.014410 0 0 HERC1 8925 broad.mit.edu 37 15 63954088 63954088 + Missense_Mutation SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:63954088G>C ENST00000443617.2 - 45 9121 c.9034C>G c.(9034-9036)Cgc>Ggc p.R3012G NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3012 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 CCATTGCTGCGATAGCCCTGG 0.537000 61 180 0 0 0.014410 0 0 GRB14 2888 broad.mit.edu 37 2 165404237 165404237 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:165404237G>A ENST00000263915.3 - 3 952 c.414C>T c.(412-414)atC>atT p.I138I GRB14_ENST00000543549.1_Silent_p.I51I NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 138 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GATTCTTCAGGATCAACAGCT 0.438000 14 43 0 0 0.004007 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320803 79320803 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:79320803C>T ENST00000428286.1 - 8 6510 c.5310G>A c.(5308-5310)gtG>gtA p.V1770V PRUNE2_ENST00000376718.3_Silent_p.V2129V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2129 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CACTGGATTCCACTTCAGGTC 0.488000 38 123 0 0 0.005524 0 0 RCBTB2 1102 broad.mit.edu 37 13 49073831 49073831 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:49073831G>A ENST00000344532.3 - 13 1733 c.1310C>T c.(1309-1311)tCa>tTa p.S437L RCBTB2_ENST00000430805.2_Missense_Mutation_p.S442L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.S163L NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 437 BTB 1. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) AACAGGATATGAAAATTCACT 0.418000 40 53 0 0 0.007835 0 0 FSTL4 23105 broad.mit.edu 37 5 132736599 132736599 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:132736599C>T ENST00000265342.7 - 4 489 c.240G>A c.(238-240)agG>agA p.R80R NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 80 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) CCCCTGTCTTCCTGCTGAGCA 0.607000 37 43 0 0 0.004289 0 0 PQLC3 130814 broad.mit.edu 37 2 11300786 11300786 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:11300786G>A ENST00000295083.3 + 3 437 c.262G>A c.(262-264)Ggg>Agg p.G88R PQLC3_ENST00000402361.1_Missense_Mutation_p.G88R|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.G88R NM_152391.3 NP_689604.1 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 88 integral to membrane kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) TCATTTTAACGGGAACGTGAA 0.517000 31 226 0 0 0.003271 0 0 C10orf68 79741 broad.mit.edu 37 10 33123776 33123776 + Missense_Mutation SNP G G A rs143370393 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:33123776G>A ENST00000375030.2 + 15 1610 c.992G>A c.(991-993)gGa>gAa p.G331E C10orf68_ENST00000375025.4_Missense_Mutation_p.G408E|C10orf68_ENST00000375028.3_Missense_Mutation_p.G348E Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 372 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 GGTGTTAATGGAAAAGATATA 0.323000 4 5 0 0 0.009096 0 0 TSHB 7252 broad.mit.edu 37 1 115576718 115576718 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:115576718C>T ENST00000256592.1 + 3 355 c.287C>T c.(286-288)tCc>tTc p.S96F TSHB_ENST00000369517.1_Missense_Mutation_p.S96F NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 96 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CCCTATTTTTCCTATCCTGTT 0.433000 108 147 0 0 0.014410 0 0 VPS52 6293 broad.mit.edu 37 6 33231635 33231635 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:33231635G>A ENST00000445902.2 - 16 1860 c.1642C>T c.(1642-1644)Ctc>Ttc p.L548F VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.L423F NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 548 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 GCCACTCGGAGGACAAAATTC 0.527000 27 69 0 0 0.004656 0 0 PXDNL 137902 broad.mit.edu 37 8 52359611 52359611 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:52359611G>A ENST00000356297.4 - 12 1578 c.1478C>T c.(1477-1479)tCg>tTg p.S493L PXDNL_ENST00000543296.1_Missense_Mutation_p.S493L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 493 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) CACCCCCAACGAACTGACTGC 0.468000 40 210 0 0 0.013114 0 0 IRAK1BP1 134728 broad.mit.edu 37 6 79577333 79577333 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:79577333G>A ENST00000369940.2 + 1 145 c.40G>A c.(40-42)Gaa>Aaa p.E14K NM_001010844.2 NP_001010844.1 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 binding protein 1 14 Intrinsically disordered. I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3) 12 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) AGTGTTCGTGGAACTGGTTCC 0.627000 50 95 0 0 0.014410 0 0 IMPG2 50939 broad.mit.edu 37 3 100949962 100949962 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:100949962G>A ENST00000193391.7 - 16 3448 c.3261C>T c.(3259-3261)taC>taT p.Y1087Y NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1087 EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCTTGCCTCGGTACCACCAGT 0.493000 99 132 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10088055 10088055 + Missense_Mutation SNP C C T rs148194988 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:10088055C>T ENST00000264828.3 - 43 3305 c.3220G>A c.(3220-3222)Gag>Aag p.E1074K NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1074 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCCCCTTCCTCGCCAGAAGGC 0.652000 97 279 0 0 0.014410 0 0 C8orf74 203076 broad.mit.edu 37 8 10555278 10555278 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:10555278G>A ENST00000304519.5 + 3 440 c.411G>A c.(409-411)ctG>ctA p.L137L RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 137 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) AGGTCGACCTGACCGTTGCCC 0.632000 69 273 0 0 0.014410 0 0 FBXO27 126433 broad.mit.edu 37 19 39516072 39516072 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:39516072G>A ENST00000292853.4 - 6 950 c.831C>T c.(829-831)atC>atT p.I277I FBXO27_ENST00000509137.2_Silent_p.I277I|FBXO27_ENST00000600828.1_Silent_p.I276I NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 277 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding p.I277I(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GGACTCGCACGATCACACTGG 0.587000 56 70 0 0 0.014410 0 0 ZNF827 152485 broad.mit.edu 37 4 146700653 146700653 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:146700653C>T ENST00000508784.1 - 9 2621 c.2394G>A c.(2392-2394)aaG>aaA p.K798K ZNF827_ENST00000379448.4_Silent_p.K798K|ZNF827_ENST00000513320.1_Silent_p.K448K Q17R98 ZN827_HUMAN zinc finger protein 827 798 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CTAGGACTATCTTTTCTGTTT 0.418000 38 58 0 0 0.006230 0 0 GATAD2B 57459 broad.mit.edu 37 1 153788833 153788833 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:153788833G>A ENST00000368655.4 - 7 1375 c.1132C>T c.(1132-1134)Cat>Tat p.H378Y NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 378 CR2. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCAAGAAATGAAGTAAGGGA 0.502000 50 88 0 0 0.014410 0 0 BMP10 27302 broad.mit.edu 37 2 69098400 69098400 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:69098400G>A ENST00000295379.1 - 1 249 c.91C>T c.(91-93)Cct>Tct p.P31S NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 31 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 TCTTCCAGAGGAGACTGCTCT 0.502000 19 57 0 0 0.006122 0 0 IGSF10 285313 broad.mit.edu 37 3 151163411 151163411 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:151163411C>T ENST00000282466.3 - 4 4357 c.4358G>A c.(4357-4359)aGg>aAg p.R1453K 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 1453 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) GATTGCTTTCCTAGTTGTGGT 0.448000 97 161 0 0 0.014410 0 0 CACNA1A 773 broad.mit.edu 37 19 13366061 13366061 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:13366061C>T ENST00000360228.5 - 29 4602 c.4603G>A c.(4603-4605)Gat>Aat p.D1535N CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1536N 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 1536 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) ATGGCGAAATCAATGCAGGCC 0.617000 6 10 0 0 0.001984 0 0 C6 729 broad.mit.edu 37 5 41149420 41149420 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:41149420C>T ENST00000263413.3 - 17 2810 c.2546G>A c.(2545-2547)aGg>aAg p.R849K C6_ENST00000337836.5_Missense_Mutation_p.R849K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 849 C5b-binding domain. 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) AAGTCTTGTCCTTTCAAGACC 0.418000 37 130 0 0 0.006230 0 0 EVPL 2125 broad.mit.edu 37 17 74005252 74005252 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:74005252C>T ENST00000301607.3 - 22 4287 c.4034G>A c.(4033-4035)cGg>cAg p.R1345Q EVPL_ENST00000586740.1_Missense_Mutation_p.R1367Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1345 Central fibrous rod domain. 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 CTCCGCGGCCCGCCTCTTCTG 0.682000 74 165 0 0 0.014410 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121652518 121652518 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:121652518C>T ENST00000393386.2 + 12 3829 c.3418C>T c.(3418-3420)Ctt>Ttt p.L1140F PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1140 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TGACACTTCGCTTAAACCTGT 0.413000 41 115 0 0 0.009718 0 0 ROBO3 64221 broad.mit.edu 37 11 124745128 124745128 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:124745128G>A ENST00000397801.1 + 14 2387 c.2195G>A c.(2194-2196)aGa>aAa p.R732K ROBO3_ENST00000538940.1_Missense_Mutation_p.R710K NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 732 Fibronectin type-III 2. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) ACTGTGCTAAGAGGACTCCCT 0.587000 61 62 0 0 0.014410 0 0 DSC3 1825 broad.mit.edu 37 18 28574457 28574457 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:28574457G>A ENST00000434452.1 - 16 2653 c.2499C>T c.(2497-2499)tcC>tcT p.S833S DSC3_ENST00000360428.4_Intron NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 0 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTCCTCTAATGGATTCCTACA 0.249000 26 31 0 0 0.007291 0 0 PROM1 8842 broad.mit.edu 37 4 16000066 16000066 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:16000066G>A ENST00000505450.1 - 14 2209 c.1597C>T c.(1597-1599)Ctc>Ttc p.L533F PROM1_ENST00000447510.2_Missense_Mutation_p.L542F|PROM1_ENST00000543373.1_Missense_Mutation_p.L533F|PROM1_ENST00000540805.1_Missense_Mutation_p.L542F|PROM1_ENST00000508167.1_Missense_Mutation_p.L533F|PROM1_ENST00000510224.1_Missense_Mutation_p.L542F|PROM1_ENST00000539194.1_Missense_Mutation_p.L542F NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 542 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TTCCCAGAGAGATAGTATTCC 0.308000 6 39 0 0 0.001168 0 0 KRT16 3868 broad.mit.edu 37 17 39768500 39768500 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:39768500C>T ENST00000301653.4 - 1 505 c.441G>A c.(439-441)gtG>gtA p.V147V NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 147 Coil 1A.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) CACGGATCTTCACTTCCAGGT 0.577000 99 227 0 0 0.014410 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199749 71199749 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:71199749G>A ENST00000554752.2 - 11 2336 c.2337C>T c.(2335-2337)ccC>ccT p.P779P MAP3K9_ENST00000554146.1_Silent_p.P507P|MAP3K9_ENST00000555993.2_Silent_p.P793P|MAP3K9_ENST00000381250.4_Silent_p.P756P|MAP3K9_ENST00000553414.1_Silent_p.P512P P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 779 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCTCCTCCAGGGGAAGCAGCT 0.652000 28 130 0 0 0.012213 0 0 MTA2 9219 broad.mit.edu 37 11 62362077 62362077 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:62362077G>A ENST00000278823.2 - 16 1992 c.1603C>T c.(1603-1605)Cct>Tct p.P535S MTA2_ENST00000527204.1_Missense_Mutation_p.P362S|MTA2_ENST00000524902.1_Missense_Mutation_p.P362S NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 535 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GTACCCCGAGGTGTTTTTGGT 0.512000 40 44 0 0 0.006230 0 0 KIF21B 23046 broad.mit.edu 37 1 200973971 200973971 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:200973971C>T ENST00000332129.2 - 6 1139 c.823G>A c.(823-825)Gcc>Acc p.A275T KIF21B_ENST00000360529.5_Missense_Mutation_p.A275T|KIF21B_ENST00000461742.2_Missense_Mutation_p.A275T|KIF21B_ENST00000422435.2_Missense_Mutation_p.A275T 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 275 Kinesin-motor. 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 TCTGAGCCGGCCAGGTCCACA 0.592000 34 91 0 0 0.013726 0 0 AKAP4 8852 broad.mit.edu 37 X 49963310 49963310 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:49963310C>T ENST00000376056.2 - 2 244 c.94G>A c.(94-96)Gtg>Atg p.V32M AKAP4_ENST00000376058.2_Missense_Mutation_p.V32M|AKAP4_ENST00000376064.3_Missense_Mutation_p.V32M|AKAP4_ENST00000358526.2_Missense_Mutation_p.V41M|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 41 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TATCTTACCACTTTCCGGTCC 0.453000 11 27 0 0 0.008291 0 0 C3orf27 23434 broad.mit.edu 37 3 128292266 128292266 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:128292266G>A ENST00000356020.2 - 3 1273 c.307C>T c.(307-309)Ctg>Ttg p.L103L NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 103 p.L103V(1) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) TGGCACAGCAGAGTCCTGGCA 0.577000 80 112 0 0 0.014410 0 0 SYNPO2 171024 broad.mit.edu 37 4 119978661 119978661 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:119978661G>A ENST00000307142.4 + 5 3554 c.3358G>A c.(3358-3360)Gat>Aat p.D1120N SYNPO2_ENST00000448416.2_Silent_p.P121P NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 774 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 TAAACCAACCGATGGACTAGA 0.488000 45 79 0 0 0.009718 0 0 SCN5A 6331 broad.mit.edu 37 3 38663892 38663892 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38663892C>T ENST00000413689.1 - 4 674 c.482_splice c.e4+1 p.E161_splice SCN5A_ENST00000414099.2_Splice_Site_p.E161_splice|SCN5A_ENST00000451551.2_Splice_Site_p.E161_splice|SCN5A_ENST00000450102.2_Splice_Site_p.E161_splice|SCN5A_ENST00000449557.2_Splice_Site_p.E161_splice|SCN5A_ENST00000455624.2_Splice_Site_p.E161_splice|SCN5A_ENST00000443581.1_Splice_Site_p.E161_splice|SCN5A_ENST00000425664.1_Splice_Site_p.E161_splice|SCN5A_ENST00000423572.2_Splice_Site_p.E161_splice|SCN5A_ENST00000333535.4_Splice_Site_p.E161_splice NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 161 E -> K (in BRS1 and PFHB1A). 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) GATACTCACTCGACATACTTG 0.587000 8 33 0 0 0.003080 0 0 SAMD9 54809 broad.mit.edu 37 7 92731217 92731217 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:92731217G>A ENST00000379958.2 - 3 4463 c.4194C>T c.(4192-4194)atC>atT p.I1398I NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1398 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGGTAGGTTGGATACAGGAGA 0.368000 52 132 0 0 0.014410 0 0 TPP1 1200 broad.mit.edu 37 11 6638288 6638288 + Missense_Mutation SNP G G A rs121908205 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6638288G>A ENST00000299427.6 - 6 665 c.605C>T c.(604-606)cCc>cTc p.P202L TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000534644.1_5'UTR NM_000391.3 NP_000382.3 O14773 TPP1_HUMAN tripeptidyl peptidase I 202 P -> L (in CLN2; displays no residual enzyme activity; altered intracellular trafficking; dbSNP:rs121908205). bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GATCACAGAGGGGGTTACCCC 0.587000 47 66 0 0 0.013114 0 0 LOC146880 146880 broad.mit.edu 37 17 62774376 62774376 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:62774376G>A ENST00000400873.3 - 0 1019 NR_026899.1 TCGCGGCTGGGGAGAGGGAGC 0.612000 6 12 0 0 0.003080 0 0 PHF2 5253 broad.mit.edu 37 9 96416852 96416852 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:96416852C>T ENST00000359246.4 + 7 1314 c.947C>T c.(946-948)cCc>cTc p.P316L PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 316 JmjC. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CTCTTCATCCCCTCAGGTGAG 0.597000 62 192 0 0 0.014410 0 0 PKHD1 5314 broad.mit.edu 37 6 51907899 51907899 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:51907899C>T ENST00000371117.3 - 27 3130 c.2855G>A c.(2854-2856)gGa>gAa p.G952E PKHD1_ENST00000340994.4_Missense_Mutation_p.G952E NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 952 IPT/TIG 4. 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) GAAACCAGTTCCGGTAATGTA 0.353000 22 37 0 0 0.014323 0 0 MARCH10 162333 broad.mit.edu 37 17 60814370 60814370 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:60814370C>T ENST00000544856.2 - 7 1234 c.856G>A c.(856-858)Gaa>Aaa p.E286K RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.E287K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E287K|MARCH10_ENST00000583600.1_Missense_Mutation_p.E325K Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 287 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TCATCGCTTTCTCTTCTGCTG 0.473000 137 299 0 0 0.014410 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7671380 7671380 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:7671380G>A ENST00000446248.2 + 4 645 c.544G>A c.(544-546)Gag>Aag p.E182K CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E182K NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 182 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GCGGCTGCAGGAGAAGACCGA 0.716000 6 12 0 0 0.001168 0 0 BPTF 2186 broad.mit.edu 37 17 65936603 65936603 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:65936603C>T ENST00000321892.4 + 21 6747 c.6686C>T c.(6685-6687)tCc>tTc p.S2229F BPTF_ENST00000335221.5_Missense_Mutation_p.S2229F|BPTF_ENST00000424123.3_Missense_Mutation_p.S2090F|BPTF_ENST00000306378.6_Missense_Mutation_p.S2103F|BPTF_ENST00000577770.1_3'UTR Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2229 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGCCTGTCTCCACTGCAGTC 0.468000 15 39 0 0 0.006122 0 0 CTSE 1510 broad.mit.edu 37 1 206331149 206331149 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:206331149G>A ENST00000360218.2 + 8 1117 c.1013G>A c.(1012-1014)gGa>gAa p.G338E CTSE_ENST00000361052.3_Silent_p.G390G|CTSE_ENST00000432969.2_Missense_Mutation_p.G263E|CTSE_ENST00000358184.2_Silent_p.G385G NM_148964.2 NP_683865.1 P14091 CATE_HUMAN cathepsin E 0 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity p.G385G(1) endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) TTGACCGTGGGAATAACCGTG 0.562000 45 197 0 0 0.011902 0 0 ZFP36 7538 broad.mit.edu 37 19 39898530 39898530 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:39898530T>A ENST00000597629.1 + 2 264 c.190T>A c.(190-192)Tcc>Acc p.S64T ZFP36_ENST00000248673.3_Missense_Mutation_p.S58T|ZFP36_ENST00000594045.1_3'UTR P26651 TTP_HUMAN ZFP36 ring finger protein 58 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCCTGGCCGCTCCACCAGCCT 0.736000 33 38 0 0 0.013726 0 0 SPOCK3 50859 broad.mit.edu 37 4 168155141 168155141 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:168155141G>A ENST00000357154.3 - 2 321 c.184C>T c.(184-186)Cga>Tga p.R62* SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000534949.1_Silent_p.S22S|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.R62*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.R62* NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 62 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CTTACGTCTCGGAATTTGTTC 0.632000 14 85 0 0 0.004007 0 0 FBN1 2200 broad.mit.edu 37 15 48738928 48738928 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:48738928G>A ENST00000316623.5 - 47 6218 c.5763C>T c.(5761-5763)atC>atT p.I1921I NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1921 EGF-like 32; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGTGAGAAAGGATGAAACCAT 0.408000 22 44 0 0 0.002780 0 0 SYT10 341359 broad.mit.edu 37 12 33559866 33559866 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:33559866C>T ENST00000228567.3 - 3 1231 c.935G>A c.(934-936)cGa>cAa p.R312Q SYT10_ENST00000535526.1_Missense_Mutation_p.R131Q NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 312 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) ATGTAGTTTTCGGTTGCTTAG 0.353000 21 60 0 0 0.014323 0 0 HORMAD2 150280 broad.mit.edu 37 22 30500398 30500398 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:30500398G>A ENST00000336726.6 + 5 621 c.266G>A c.(265-267)gGt>gAt p.G89D HORMAD2_ENST00000403975.1_Missense_Mutation_p.G89D NM_152510.2 NP_689723.1 Q8N7B1 HORM2_HUMAN HORMA domain containing 2 89 HORMA. meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) AGGATTCAAGGTTGTTTTGAT 0.299000 47 82 0 0 0.014410 0 0 TERF1 7013 broad.mit.edu 37 8 73921227 73921227 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:73921227G>A ENST00000276602.6 + 1 129 c.106G>A c.(106-108)Gag>Aag p.E36K TERF1_ENST00000276603.5_Missense_Mutation_p.E36K NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 36 Asp/Glu-rich (acidic). age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GAGAAACGACGAGGAGCAGTT 0.662000 13 32 0 0 0.013537 0 0 TCTN1 79600 broad.mit.edu 37 12 111066751 111066751 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:111066751C>T ENST00000550703.2 + 4 808 c.652C>T c.(652-654)Cat>Tat p.H218Y TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000377654.3_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551590.1_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 0 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TGATTCTTTTCATCCCATCAC 0.338000 30 40 0 0 0.010818 0 0 SYNM 23336 broad.mit.edu 37 15 99670731 99670731 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:99670731C>T ENST00000336292.6 + 5 2283 c.2163C>T c.(2161-2163)gcC>gcT p.A721A SYNM_ENST00000328642.7_Silent_p.A721A|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000560674.1_Silent_p.A436A NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 722 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 GCAAGTCAGCCGAGCAGATGA 0.512000 23 48 0 0 0.012319 0 0 ZBTB40 9923 broad.mit.edu 37 1 22817085 22817085 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:22817085C>T ENST00000404138.1 + 3 1155 c.644C>T c.(643-645)cCc>cTc p.P215L ZBTB40_ENST00000375647.4_Missense_Mutation_p.P215L|ZBTB40_ENST00000374651.4_Missense_Mutation_p.P215L NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 215 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GCTTGTTCCCCCTCCCCTGCT 0.473000 24 79 0 0 0.002780 0 0 PCSK5 5125 broad.mit.edu 37 9 78784642 78784642 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:78784642G>A ENST00000545128.1 + 13 2180 c.1642G>A c.(1642-1644)Gga>Aga p.G548R PCSK5_ENST00000376767.3_Missense_Mutation_p.G548R|PCSK5_ENST00000376752.4_Missense_Mutation_p.G548R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 548 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCCATGGAAGGATTCAAAAA 0.418000 21 74 0 0 0.012319 0 0 TMEM154 201799 broad.mit.edu 37 4 153564299 153564299 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:153564299G>A ENST00000304385.3 - 5 650 c.419C>T c.(418-420)tCt>tTt p.S140F NM_152680.2 NP_689893.1 Q6P9G4 TM154_HUMAN transmembrane protein 154 140 integral to membrane kidney(2)|large_intestine(1) 3 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TTCCATAACAGAGGGTGTATC 0.338000 12 69 0 0 0.001855 0 0 UNC79 57578 broad.mit.edu 37 14 94089029 94089029 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94089029G>A ENST00000553484.1 + 31 5670 c.5516G>A c.(5515-5517)aGg>aAg p.R1839K UNC79_ENST00000555664.1_Missense_Mutation_p.R1817K|UNC79_ENST00000393151.2_Missense_Mutation_p.R1817K|UNC79_ENST00000256339.4_Missense_Mutation_p.R1640K Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1817 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 AATCCTGAAAGGAAGGTGGAA 0.473000 9 39 0 0 0.004482 0 0 RNF17 56163 broad.mit.edu 37 13 25418018 25418018 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:25418018T>G ENST00000255324.5 + 20 2792 c.2740T>G c.(2740-2742)Tat>Gat p.Y914D RNF17_ENST00000339524.3_5'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.Y914D NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 914 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCAGTCACTTTATAATAAGGA 0.313000 27 37 0 0 0.006320 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46067169 46067169 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46067169C>T ENST00000334670.8 + 1 839 c.794C>T c.(793-795)tCc>tTc p.S265F TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 259 keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 TCCTGCCAGTCCAGCTGCTGC 0.692000 50 112 0 0 0.014410 0 0 ABCB4 5244 broad.mit.edu 37 7 87060831 87060831 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:87060831G>A ENST00000265723.4 - 15 1893 c.1782C>T c.(1780-1782)gtC>gtT p.V594V ABCB4_ENST00000545634.1_Silent_p.V594V|ABCB4_ENST00000359206.3_Silent_p.V594V|ABCB4_ENST00000453593.1_Silent_p.V594V|ABCB4_ENST00000358400.3_Silent_p.V594V NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 594 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) CTGCATTTCGGACCGTAGACA 0.488000 42 121 0 0 0.010771 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127195 45127195 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:45127195G>A ENST00000575173.1 - 0 418 CCCTACCACAGGTGAGAGACA 0.473000 41 87 0 0 0.007835 0 0 ITPR2 3709 broad.mit.edu 37 12 26572051 26572051 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:26572051G>A ENST00000381340.3 - 50 7457 c.7041C>T c.(7039-7041)ctC>ctT p.L2347L RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2347 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) CCACGTGATAGAGAAAGGCCA 0.448000 15 46 0 0 0.004990 0 0 RHPN2 85415 broad.mit.edu 37 19 33512498 33512498 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:33512498G>A ENST00000254260.3 - 4 404 c.369C>T c.(367-369)gtC>gtT p.V123V RHPN2_ENST00000400226.4_Intron NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 123 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) CTGCAAAGTCGACGTCTTTCG 0.493000 25 48 0 0 0.005443 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366725 40366725 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:40366725G>A ENST00000406785.1 - 7 2442 c.2253C>T c.(2251-2253)gtC>gtT p.V751V SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.V787V|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.V787V|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Silent_p.V751V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Silent_p.V751V|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.V782V|SLC8A1_ENST00000542024.1_Silent_p.V751V|SLC8A1_ENST00000405901.3_Silent_p.V782V|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Silent_p.V751V|SLC8A1_ENST00000408028.2_Silent_p.V779V|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 787 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) AGGCAAACAGGACCTTCCAGA 0.502000 30 65 0 0 0.008361 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598433 151598433 + Silent SNP C C T rs145165680 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:151598433C>T ENST00000362032.4 + 3 207 c.102C>T c.(100-102)ttC>ttT p.F34F RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 34 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) GGATTGAGTTCGTTGTGGGAG 0.423000 49 194 0 0 0.014410 0 0 F8 2157 broad.mit.edu 37 X 154156898 154156898 + Missense_Mutation SNP C C T rs137852373 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:154156898C>T ENST00000360256.4 - 14 5367 c.5167G>A c.(5167-5169)Gag>Aag p.E1723K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1723 F5/8 type A 3.|Plastocyanin-like 5. E -> K (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAGAGCCTCTCCACTGCAGCA 0.413000 19 16 0 0 0.014323 0 0 PCLO 27445 broad.mit.edu 37 7 82538228 82538228 + Missense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:82538228C>G ENST00000423517.2 - 8 13739 c.13402G>C c.(13402-13404)Gtc>Ctc p.V4468L PCLO_ENST00000333891.8_Missense_Mutation_p.V4468L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4399 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 CTAGAGTGGACCAATCTTTCC 0.413000 12 27 0 0 0.013537 0 0 YTHDC1 91746 broad.mit.edu 37 4 69182129 69182129 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:69182129G>A ENST00000344157.4 - 16 2197 c.1862C>T c.(1861-1863)cCt>cTt p.P621L YTHDC1_ENST00000579690.1_Missense_Mutation_p.P629L|YTHDC1_ENST00000355665.3_Missense_Mutation_p.P603L NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 621 Pro-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CTGATAGTAAGGATGGTGTGG 0.438000 40 105 0 0 0.006230 0 0 DEFB112 245915 broad.mit.edu 37 6 50016362 50016362 + Translation_Start_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:50016362C>T ENST00000322246.4 - 1 2 c.3G>A c.(1-3)atG>atA p.M1I NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 1 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) TCAATAATTTCATAAGAGTGC 0.323000 13 29 0 0 0.013537 0 0 TC2N 123036 broad.mit.edu 37 14 92251509 92251509 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:92251509G>A ENST00000435962.2 - 11 1682 c.1359C>T c.(1357-1359)ggC>ggT p.G453G TC2N_ENST00000556018.1_Silent_p.G389G|TC2N_ENST00000360594.5_Silent_p.G453G|TC2N_ENST00000340892.5_Silent_p.G453G NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 453 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) TACTAACCTGGCCCACAAAGT 0.318000 24 87 0 0 0.003954 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39178229 39178229 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:39178229G>A ENST00000297668.6 - 5 740 c.667C>T c.(667-669)Cac>Tac p.H223Y CNTNAP3_ENST00000358144.2_Missense_Mutation_p.H135Y|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.H223Y|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.H223Y|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.H223Y NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 223 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CCTTCTCTGTGAAGTAGAATT 0.303000 37 115 0 0 0.009718 0 0 DNAH5 1767 broad.mit.edu 37 5 13701465 13701465 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13701465G>A ENST00000265104.4 - 77 13523 c.13419C>T c.(13417-13419)ttC>ttT p.F4473F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4473 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) GTCGGCCATTGAAAACCCACG 0.438000 Kartagener syndrome 41 92 0 0 0.007835 0 0 POTEG 404785 broad.mit.edu 37 14 19553789 19553789 + Missense_Mutation SNP G G A rs145666754 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:19553789G>A ENST00000409832.3 + 1 425 c.373G>A c.(373-375)Gac>Aac p.D125N NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 125 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AGACTACGACGACAGCGCTTT 0.592000 72 801 0 0 0.014410 0 0 MKX 283078 broad.mit.edu 37 10 28023670 28023670 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:28023670G>A ENST00000375790.5 - 5 985 c.553C>T c.(553-555)Cca>Tca p.P185S MKX_ENST00000419761.1_Missense_Mutation_p.P185S Q8IYA7 MKX_HUMAN mohawk homeobox 185 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 TGGTGAACTGGGGTATTATAG 0.493000 34 43 0 0 0.003271 0 0 MYLK2 85366 broad.mit.edu 37 20 30408016 30408016 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:30408016C>T ENST00000375994.2 + 2 413 c.140C>T c.(139-141)cCa>cTa p.P47L MYLK2_ENST00000375985.4_Missense_Mutation_p.P47L Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 47 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCTCCGGATCCACCCACCCTG 0.597000 42 96 0 0 0.009718 0 0 TP53I3 9540 broad.mit.edu 37 2 24305773 24305773 + Nonsense_Mutation SNP G G A rs143715832 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:24305773G>A ENST00000238721.4 - 2 1242 c.388C>T c.(388-390)Cag>Tag p.Q130* TP53I3_ENST00000313482.4_Nonsense_Mutation_p.Q130*|TP53I3_ENST00000335934.4_Nonsense_Mutation_p.Q130*|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Nonsense_Mutation_p.Q130*|TP53I3_ENST00000417886.1_Intron NM_004881.4 NP_004872.2 Q53FA7 QORX_HUMAN tumor protein p53 inducible protein 3 130 induction of apoptosis by oxidative stress|NADP metabolic process NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTAACAGCTGGAAGGCGGTG 0.572000 14 26 0 0 0.004007 0 0 NUP188 23511 broad.mit.edu 37 9 131768355 131768355 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:131768355C>T ENST00000372577.2 + 42 4917 c.4896C>T c.(4894-4896)acC>acT p.T1632T NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1632 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 AGCCCCTCACCCAGGCAGTGG 0.522000 OREG0019528 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 172 0 0 0.009718 0 0 EDARADD 128178 broad.mit.edu 37 1 236572530 236572530 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:236572530G>A ENST00000359362.5 + 2 260 c.46G>A c.(46-48)Gaa>Aaa p.E16K EDARADD_ENST00000334232.4_Missense_Mutation_p.E26K NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 26 cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TATGGTAAAGGAACCAGTGGA 0.323000 41 97 0 0 0.014410 0 0 VWF 7450 broad.mit.edu 37 12 6128845 6128845 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:6128845G>A ENST00000261405.5 - 28 3993 c.3739C>T c.(3739-3741)Ccc>Tcc p.P1247S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1247 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) GCATCTGTGGGAGGCACCACC 0.567000 19 45 0 0 0.008871 0 0 CYP4X1 260293 broad.mit.edu 37 1 47514238 47514238 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:47514238G>A ENST00000371901.3 + 10 1459 c.1207_splice c.e10-1 p.G403_splice CYP4X1_ENST00000538609.1_Splice_Site_p.G402_splice NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 403 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 CTTTCTTAGGGATCACCGTGG 0.428000 81 196 0 0 0.014410 0 0 UPF3B 65109 broad.mit.edu 37 X 118974617 118974617 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:118974617G>A ENST00000276201.2 - 8 907 c.838C>T c.(838-840)Cag>Tag p.Q280* UPF3B_ENST00000345865.2_Intron|UPF3B_ENST00000478840.1_5'UTR NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 280 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 ACATTTTTCTGATTCACAGCT 0.378000 19 31 0 0 0.008871 0 0 GPR113 165082 broad.mit.edu 37 2 26537355 26537355 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:26537355G>A ENST00000333478.6 - 4 1044 c.462C>T c.(460-462)ttC>ttT p.F154F GPR113_ENST00000421160.2_Silent_p.F284F|GPR113_ENST00000311519.1_Silent_p.F353F|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000459892.1_5'UTR NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 353 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTCAGCTGGAAGCCAGGGG 0.617000 38 61 0 0 0.014410 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72190579 72190579 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:72190579C>T ENST00000555818.1 + 16 4835 c.4487C>T c.(4486-4488)tCc>tTc p.S1496F SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S950F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1475F|SIPA1L1_ENST00000554874.1_3'UTR NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1496 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.S1496F(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCATAAACTCCGTGGGATTT 0.478000 48 106 0 0 0.014410 0 0 COLQ 8292 broad.mit.edu 37 3 15499767 15499767 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:15499767C>T ENST00000383788.5 - 13 1005 c.880G>A c.(880-882)Gga>Aga p.G294R COLQ_ENST00000435459.2_Missense_Mutation_p.G284R|COLQ_ENST00000383787.2_Missense_Mutation_p.G285R|COLQ_ENST00000603808.1_Missense_Mutation_p.G294R|COLQ_ENST00000383781.4_Missense_Mutation_p.G284R|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383786.5_Missense_Mutation_p.G260R NM_005677.3 NP_005668.2 Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 294 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 ATAGTGGGTCCACAAAGACAT 0.517000 115 183 0 0 0.014410 0 0 PLVAP 83483 broad.mit.edu 37 19 17476205 17476205 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:17476205C>T ENST00000252590.4 - 3 1130 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 357 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTGTCTCGTTCCTTCCGCAGC 0.622000 68 193 0 0 0.014410 0 0 SCN1A 6323 broad.mit.edu 37 2 166897931 166897931 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:166897931G>A ENST00000423058.2 - 13 2242 c.2225C>T c.(2224-2226)tCc>tTc p.S742F AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S714F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S731F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S742F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 742 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) GAATATGTTGGAAAATTTATA 0.373000 50 129 0 0 0.014410 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136856 40136856 + Silent SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:40136856C>A ENST00000278198.2 - 2 2950 c.987G>T c.(985-987)cgG>cgT p.R329R LRRC4C_ENST00000528697.1_Silent_p.R329R|LRRC4C_ENST00000530763.1_Silent_p.R329R|LRRC4C_ENST00000527150.1_Silent_p.R329R Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 329 LRRCT. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GAGTGTTACACCGGGCACAAC 0.507000 7 40 5.18039e-06 5.26177e-06 0.003080 1 0 LRRC16B 90668 broad.mit.edu 37 14 24529923 24529923 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:24529923C>T ENST00000342740.5 + 25 2302 c.2148C>T c.(2146-2148)ctC>ctT p.L716L LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 716 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) ATGAGCTACTCTACGCTCGGG 0.627000 17 48 0 0 0.004007 0 0 OR51F2 119694 broad.mit.edu 37 11 4842709 4842709 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4842709C>T ENST00000322110.5 + 1 159 c.94C>T c.(94-96)Cca>Tca p.P32S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GATGGGCATTCCAGGCCTGAA 0.473000 47 232 0 0 0.013114 0 0 OR11H6 122748 broad.mit.edu 37 14 20692828 20692828 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20692828G>A ENST00000315519.2 + 1 1038 c.960G>A c.(958-960)aaG>aaA p.K320K NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 320 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) ATGCTCTAAAGAGAGTCCTGG 0.368000 41 120 0 0 0.008740 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590704 125590704 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:125590704C>T ENST00000504087.1 - 4 4765 c.3728G>A c.(3727-3729)gGa>gAa p.G1243E ANKRD50_ENST00000515641.1_Missense_Mutation_p.G1064E NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1243 Ser-rich. 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 ATGACTCTGTCCTAAGGACTG 0.403000 53 116 0 0 0.014410 0 0 SCN10A 6336 broad.mit.edu 37 3 38753898 38753898 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:38753898G>A ENST00000449082.2 - 22 3842 c.3843C>T c.(3841-3843)atC>atT p.I1281I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1281 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) GGACATTCATGATGGATGGGA 0.552000 40 120 0 0 0.006999 0 0 STAT4 6775 broad.mit.edu 37 2 191894583 191894583 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:191894583G>A ENST00000392320.2 - 24 2544 c.2230C>T c.(2230-2232)Cct>Tct p.P744S AC067945.4_ENST00000456176.1_RNA|STAT4_ENST00000358470.4_Missense_Mutation_p.P744S NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 744 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 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) GCAGAATAAGGAGACTTCATC 0.323000 58 162 0 0 0.014410 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50413429 50413429 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:50413429G>A ENST00000435965.1 - 19 1911 c.1738C>T c.(1738-1740)Ctg>Ttg p.L580L CACNA2D2_ENST00000360963.3_Silent_p.L511L|CACNA2D2_ENST00000479441.1_Silent_p.L580L|CACNA2D2_ENST00000424201.2_Silent_p.L580L|CACNA2D2_ENST00000429770.1_Silent_p.L580L|CACNA2D2_ENST00000423994.2_Silent_p.L580L|CACNA2D2_ENST00000395083.1_Silent_p.L580L|CACNA2D2_ENST00000266039.3_Silent_p.L580L Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 580 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TCCGCATCCAGGAAGTCCAGA 0.602000 74 237 0 0 0.014410 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797942 148797942 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:148797942G>A ENST00000355220.5 + 5 898 c.796G>A c.(796-798)Gaa>Aaa p.E266K MAGEA11_ENST00000333104.4_Missense_Mutation_p.E237K NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 266 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GATATTTAGGGAAGCCTCTGT 0.473000 117 133 0 0 0.014410 0 0 USP24 23358 broad.mit.edu 37 1 55598327 55598327 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:55598327G>A ENST00000294383.6 - 31 3427 c.3428C>T c.(3427-3429)tCc>tTc p.S1143F USP24_ENST00000407756.1_Missense_Mutation_p.S983F NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1143 Ser-rich. 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 TGATGACAGGGATGGAGATTT 0.393000 23 25 0 0 0.012319 0 0 ABCC1 4363 broad.mit.edu 37 16 16110399 16110399 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:16110399T>A ENST00000399408.2 + 5 711 c.536T>A c.(535-537)tTt>tAt p.F179Y ABCC1_ENST00000351154.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000349029.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000346370.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000345148.5_Missense_Mutation_p.F179Y|ABCC1_ENST00000399410.3_Missense_Mutation_p.F179Y P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 179 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 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) TACGTCTACTTTTCCCTCTTA 0.507000 78 397 0 0 0.014410 0 0 COL21A1 81578 broad.mit.edu 37 6 56044665 56044665 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:56044665C>T ENST00000244728.5 - 3 748 c.351G>A c.(349-351)ggG>ggA p.G117G COL21A1_ENST00000535941.1_Silent_p.G117G|COL21A1_ENST00000370819.1_Silent_p.G117G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 117 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) GGATGGCCTTCCCTGTCTTTG 0.478000 13 40 0 0 0.013537 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899650 156899650 + Nonsense_Mutation SNP C C G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:156899650C>G ENST00000311946.7 + 6 1199 c.1083C>G c.(1081-1083)taC>taG p.Y361* NIPAL4_ENST00000435489.2_Nonsense_Mutation_p.Y342*|ADAM19_ENST00000430702.2_Intron NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 361 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCATCTACTACGTGTTCTTCA 0.537000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 75 0 0 0.006999 0 0 KIF7 374654 broad.mit.edu 37 15 90185521 90185521 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:90185521G>A ENST00000394412.3 - 11 2383 c.2307C>T c.(2305-2307)ctC>ctT p.L769L NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 769 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) CCTTGCCCTCGAGCTCCCGCA 0.692000 12 33 0 0 0.013537 0 0 ATAD3B 83858 broad.mit.edu 37 1 1417665 1417665 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:1417665C>T ENST00000308647.7 + 6 778 c.662C>T c.(661-663)aCc>aTc p.T221I ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_Missense_Mutation_p.T53I NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 221 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CACCGTCAGACCGTCTTGGAG 0.692000 19 56 0 0 0.003954 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885075 88885075 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:88885075G>A ENST00000319675.3 - 1 1221 c.1125C>T c.(1123-1125)ttC>ttT p.F375F NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 375 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GTGCTCCTCGGAAGCCCCCGA 0.592000 22 52 0 0 0.012319 0 0 RGPD4 285190 broad.mit.edu 37 2 108488581 108488581 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:108488581G>A ENST00000408999.3 + 20 4198 c.4121G>A c.(4120-4122)tGg>tAg p.W1374* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W1374* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1374 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GTTGGTCAATGGAAAGAAAGG 0.353000 77 187 0 0 0.014410 0 0 LRP10 26020 broad.mit.edu 37 14 23344855 23344855 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23344855C>T ENST00000359591.4 + 5 1389 c.698C>T c.(697-699)gCc>gTc p.A233V LRP10_ENST00000546834.1_Missense_Mutation_p.A233V NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 233 CUB 2. endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CGGCGGCTGGCCGTGCGCTTC 0.622000 57 134 0 0 0.014410 0 0 THAP4 51078 broad.mit.edu 37 2 242542425 242542425 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:242542425G>A ENST00000407315.1 - 4 1901 c.1470C>T c.(1468-1470)ccC>ccT p.P490P THAP4_ENST00000402545.1_Silent_p.P78P|THAP4_ENST00000402136.1_Silent_p.P78P NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 490 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-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;0.0844) TGTTGGTGTCGGGCTTGAGGC 0.622000 46 144 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13781069 13781069 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13781069C>T ENST00000265104.4 - 53 8925 c.e53-1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 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) CACGAGAGATCTGTAATATGG 0.398000 Kartagener syndrome 7 22 0 0 0.004482 0 0 AANAT 15 broad.mit.edu 37 17 74464834 74464834 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:74464834C>T ENST00000250615.3 + 5 1148 c.141C>T c.(139-141)tcC>tcT p.S47S AANAT_ENST00000392492.3_Silent_p.S2S NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 2 N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 CCAGAATGTCCACGCAGAGCA 0.657000 7 28 0 0 0.004482 0 0 ZNF362 149076 broad.mit.edu 37 1 33736189 33736189 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:33736189C>T ENST00000539719.1 + 2 184 c.14C>T c.(13-15)tCa>tTa p.S5L ZNF362_ENST00000373428.5_Missense_Mutation_p.S5L|ZNF362_ENST00000490959.2_3'UTR NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) agtagaagttcaccaagtggg 0.498000 55 160 0 0 0.014410 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461387 5461387 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:5461387C>T ENST00000296564.7 + 13 2162 c.1940C>T c.(1939-1941)tCt>tTt p.S647F NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 647 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AATCCCCAGTCTTCTTCTGGG 0.393000 37 104 0 0 0.005524 0 0 FBN2 2201 broad.mit.edu 37 5 127610313 127610313 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:127610313C>T ENST00000508053.1 - 66 8631 c.7657G>A c.(7657-7659)Ggg>Agg p.G2553R FBN2_ENST00000262464.4_Missense_Mutation_p.G2553R P35556 FBN2_HUMAN fibrillin 2 2553 EGF-like 43; 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) CAGGTAAACCCCCCCAGGGTG 0.418000 27 37 0 0 0.010818 0 0 VPS13D 55187 broad.mit.edu 37 1 12461714 12461714 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12461714C>T ENST00000358136.3 + 62 11968 c.11838C>T c.(11836-11838)ctC>ctT p.L3946L VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.L3921L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3945 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGAAACTGCTCCTCAAGCTGC 0.393000 46 117 0 0 0.014410 0 0 SULT2A1 6822 broad.mit.edu 37 19 48385458 48385458 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:48385458G>A ENST00000222002.3 - 3 494 c.355C>T c.(355-357)Ctc>Ttc p.L119F NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 119 L -> D (in Ref. 1; AA sequence). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TTTCTCATGAGATAAATCACC 0.328000 49 57 0 0 0.014410 0 0 ZNF208 7757 broad.mit.edu 37 19 22154826 22154826 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22154826C>T ENST00000397126.4 - 4 3158 c.3010G>A c.(3010-3012)Gaa>Aaa p.E1004K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CCACATTCTTCACATTTGTAG 0.368000 27 42 0 0 0.004656 0 0 MYOM2 9172 broad.mit.edu 37 8 2046756 2046756 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:2046756G>A ENST00000262113.4 + 19 2524 c.2383G>A c.(2383-2385)Gag>Aag p.E795K MYOM2_ENST00000523438.1_Missense_Mutation_p.E220K NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 795 Fibronectin type-III 4. 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) CGGCATCGGGGAGCCCTCAGA 0.582000 7 33 0 0 0.003080 0 0 SYNRG 11276 broad.mit.edu 37 17 35900499 35900499 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:35900499G>A ENST00000339208.6 - 16 3489 c.3349C>T c.(3349-3351)Ctg>Ttg p.L1117L SYNRG_ENST00000502449.2_Silent_p.L994L|SYNRG_ENST00000345615.4_Silent_p.L1039L|SYNRG_ENST00000346661.4_Silent_p.L1117L|SYNRG_ENST00000394378.2_Silent_p.L1039L|SYNRG_ENST00000591288.1_Silent_p.L911L|SYNRG_ENST00000585472.1_Silent_p.L1038L NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1117 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCTCCCGTCAGGTCTTTGTAC 0.537000 52 123 0 0 0.014410 0 0 UMODL1 89766 broad.mit.edu 37 21 43505421 43505421 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:43505421G>A ENST00000400427.1 + 4 682 c.286G>A c.(286-288)Ggc>Agc p.G96S UMODL1_ENST00000400424.1_Missense_Mutation_p.G96S|UMODL1_ENST00000408910.2_Missense_Mutation_p.G168S|UMODL1_ENST00000408989.2_Missense_Mutation_p.G168S NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 168 EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGACCCTGTGGGCTCCTGGTA 0.542000 56 204 0 0 0.014410 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854280 12854280 + Missense_Mutation SNP C C A rs2790782 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12854280C>A ENST00000332296.7 + 3 607 c.504C>A c.(502-504)ttC>ttA p.F168L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 168 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) GATACCTCTTCCAGTGGGTTT 0.443000 36 474 2.02627e-32 2.07719e-32 0.014410 1 0 HCN1 348980 broad.mit.edu 37 5 45267263 45267263 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:45267263C>T ENST00000303230.4 - 7 1768 c.1711G>A c.(1711-1713)Gag>Aag p.E571K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 571 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 TCCAGGACCTCGTTGAAATTG 0.428000 47 124 0 0 0.014410 0 0 LEF1 51176 broad.mit.edu 37 4 109002742 109002742 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:109002742C>T ENST00000265165.1 - 6 1376 c.722_splice c.e6+1 p.R241_splice LEF1_ENST00000510624.1_Intron|LEF1_ENST00000379951.2_Intron|LEF1_ENST00000438313.2_Intron NM_016269.4 NP_057353.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 241 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CTCCACCTACCTGGACATGGA 0.562000 8 43 0 0 0.008291 0 0 LAMA2 3908 broad.mit.edu 37 6 129498907 129498907 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:129498907C>T ENST00000421865.2 + 10 1412 c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 455 Laminin EGF-like 3. 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 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) GAGCTGTGATCGGTGTGCCAG 0.483000 17 16 0 0 0.006122 0 0 AOC4P 90586 broad.mit.edu 37 17 41020078 41020078 + RNA SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:41020078G>C ENST00000585538.1 + 0 917 NR_002773.1 GGACTATCCAGAAGGTGTTCT 0.587000 29 62 0 0 0.009535 0 0 ADRA2B 151 broad.mit.edu 37 2 96781134 96781134 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:96781134G>A ENST00000409345.3 - 1 850 c.755C>T c.(754-756)tCc>tTc p.S252F NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 252 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CTCCCCAGTGGACTTCGAGTG 0.647000 15 40 0 0 0.006122 0 0 SLC26A9 115019 broad.mit.edu 37 1 205897173 205897173 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:205897173G>A ENST00000367135.3 - 9 1071 c.958C>T c.(958-960)Ccc>Tcc p.P320S SLC26A9_ENST00000367134.2_Missense_Mutation_p.P320S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P320S NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 320 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) ACCGGGGTGGGGAACCTGCCG 0.632000 9 53 0 0 0.006214 0 0 TM6SF2 53345 broad.mit.edu 37 19 19381838 19381838 + Silent SNP G G C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:19381838G>C ENST00000389363.4 - 2 264 c.192C>G c.(190-192)ctC>ctG p.L64L AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 64 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) CACCAGCATAGAGTGGGTCAT 0.592000 73 259 0 0 0.014410 0 0 IDO2 169355 broad.mit.edu 37 8 39840215 39840215 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:39840215G>A ENST00000502986.2 + 5 641 c.399G>A c.(397-399)agG>agA p.R133R IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.R120R|RP11-44K6.3_ENST00000517623.1_RNA NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 120 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 AAGTCTCCAGGAACTTGGGGC 0.468000 11 23 0 0 0.010729 0 0 INSRR 3645 broad.mit.edu 37 1 156812213 156812213 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:156812213G>A ENST00000368195.3 - 18 3610 c.3214C>T c.(3214-3216)Cga>Tga p.R1072* NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1072 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGCAAAGATCGAAGATGGCTC 0.592000 84 148 0 0 0.014410 0 0 SYTL4 94121 broad.mit.edu 37 X 99933419 99933419 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:99933419G>A ENST00000455616.1 - 17 2182 c.1836C>T c.(1834-1836)ttC>ttT p.F612F SYTL4_ENST00000454200.2_Silent_p.F614F|SYTL4_ENST00000263033.5_Silent_p.F612F|SYTL4_ENST00000372989.1_Silent_p.F612F|SYTL4_ENST00000276141.6_Silent_p.F612F|SYTL4_ENST00000491602.1_5'UTR Q96C24 SYTL4_HUMAN synaptotagmin-like 4 612 C2 2. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCCTCCCAGGAAGTCATTGC 0.527000 34 51 0 0 0.003755 0 0 KCNA3 3738 broad.mit.edu 37 1 111216508 111216508 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:111216508G>A ENST00000369769.2 - 1 1147 c.924C>T c.(922-924)ttC>ttT p.F308F NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 308 voltage-gated potassium channel complex delayed rectifier potassium channel activity p.F308F(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAGCAGTTCGAAGGAGAACC 0.547000 45 227 0 0 0.009718 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134201 91134201 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:91134201C>T ENST00000373094.1 + 2 3807 c.2962C>T c.(2962-2964)Ccc>Tcc p.P988S PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 988 homophilic cell adhesion integral to plasma membrane calcium ion binding p.P988T(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAGTTCAGATCCCTACAGCGT 0.493000 79 113 0 0 0.014410 0 0 DPP10 57628 broad.mit.edu 37 2 116447276 116447276 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:116447276C>T ENST00000410059.1 + 6 935 c.455C>T c.(454-456)tCg>tTg p.S152L DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.S145L|DPP10_ENST00000409163.1_Missense_Mutation_p.S102L|DPP10_ENST00000393147.2_Missense_Mutation_p.S156L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 152 proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.S145L(2)|p.S152L(2) 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 TTTCATTATTCGTATACTGCT 0.264000 7 11 0 0 0.003080 0 0 PRKAA2 5563 broad.mit.edu 37 1 57170074 57170074 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57170074C>T ENST00000371244.4 + 7 1285 c.1219C>T c.(1219-1221)Cga>Tga p.R407* NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 407 R -> Q (in a gastric adenocarcinoma sample; somatic mutation). carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TCTTGGAATCCGAAGTCAGAG 0.413000 33 100 0 0 0.012213 0 0 FGB 2244 broad.mit.edu 37 4 155491730 155491730 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:155491730G>A ENST00000302068.4 + 8 1467 c.1404G>A c.(1402-1404)atG>atA p.M468I FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.M249I NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 468 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|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TAGTATGGATGAATTGGAAGG 0.468000 23 39 0 0 0.003330 0 0 ZNF841 284371 broad.mit.edu 37 19 52569368 52569368 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:52569368T>C ENST00000389534.4 - 7 2226 c.1767A>G c.(1765-1767)agA>agG p.R589R ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.R589R|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Silent_p.R473R NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 CGGTATGCATTCTTTGATGAC 0.413000 56 64 0 0 0.014410 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663112 22663112 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:22663112C>T ENST00000426066.1 + 0 551 NR_027293.1 TGGATAAATCCATAAAAATTG 0.289000 6 23 0 0 0.001984 0 0 CLYBL 171425 broad.mit.edu 37 13 100511124 100511124 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:100511124C>T ENST00000376355.3 + 3 290 c.259C>T c.(259-261)Cga>Tga p.R87* CLYBL_ENST00000376354.1_Nonsense_Mutation_p.R87*|CLYBL_ENST00000339105.4_Nonsense_Mutation_p.R87*|CLYBL_ENST00000376360.1_Nonsense_Mutation_p.R87*|CLYBL_ENST00000444838.2_Nonsense_Mutation_p.R87* NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 87 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GAATGAAGCTCGACTGAGAAT 0.388000 42 30 0 0 0.010771 0 0 F5 2153 broad.mit.edu 37 1 169483583 169483583 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:169483583G>A ENST00000367796.3 - 25 6859 c.6658C>T c.(6658-6660)Cgc>Tgc p.R2220C F5_ENST00000367797.3_Missense_Mutation_p.R2215C|F5_ENST00000495481.1_5'UTR P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2215 F5/8 type C 2. 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) AGTTCCAGGCGAAGTGCAATA 0.383000 19 35 0 0 0.012319 0 0 RPH3AL 9501 broad.mit.edu 37 17 131580 131580 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:131580C>T ENST00000331302.7 - 6 724 c.417G>A c.(415-417)aaG>aaA p.K139K RPH3AL_ENST00000536489.2_Intron|RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000323434.8_Intron NM_001190411.1|NM_006987.3 NP_001177340.1|NP_008918.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 139 RabBD. exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) CACTGCAGATCTTACACAGCC 0.592000 57 59 0 0 0.014410 0 0 COL18A1 80781 broad.mit.edu 37 21 46916463 46916463 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:46916463C>T ENST00000359759.4 + 29 3824 c.3803C>T c.(3802-3804)aCt>aTt p.T1268I COL18A1_ENST00000355480.5_Missense_Mutation_p.T1033I|COL18A1_ENST00000400337.2_Missense_Mutation_p.T853I|COL18A1_ENST00000459895.1_3'UTR P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1268 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCTCCAGGGACTCCTGTTTAC 0.647000 48 136 0 0 0.014410 0 0 SCN1A 6323 broad.mit.edu 37 2 166900267 166900267 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:166900267G>A ENST00000423058.2 - 11 1972 c.1955C>T c.(1954-1956)tCc>tTc p.S652F AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S652F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S652F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S652F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 652 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) ACCAACCAAGGAAACCACACC 0.493000 30 61 0 0 0.013726 0 0 ZNF212 7988 broad.mit.edu 37 7 148951428 148951428 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:148951428C>T ENST00000335870.2 + 5 1538 c.1410C>T c.(1408-1410)ctC>ctT p.L470L NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) AGCAGCACCTCCTGCAGCACC 0.647000 48 129 0 0 0.014410 0 0 PLCB4 5332 broad.mit.edu 37 20 9376218 9376218 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:9376218C>T ENST00000378501.2 + 16 1478 c.1463C>T c.(1462-1464)tCc>tTc p.S488F PLCB4_ENST00000378473.3_Missense_Mutation_p.S488F|PLCB4_ENST00000278655.4_Missense_Mutation_p.S488F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S488F|PLCB4_ENST00000414679.2_Missense_Mutation_p.S488F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S488F|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 488 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 GAATCTGCCTCCCCAGCAAAC 0.393000 21 64 0 0 0.002780 0 0 MYO1H 283446 broad.mit.edu 37 12 109876414 109876414 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:109876414G>A ENST00000310903.5 + 23 2341 c.2235G>A c.(2233-2235)cgG>cgA p.R745R MYO1H_ENST00000431443.2_Silent_p.R755R B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 GGGCCGTGCGGATTATCAGAA 0.512000 8 12 0 0 0.006214 0 0 MUC2 4583 broad.mit.edu 37 11 1093756 1093756 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1093756C>T ENST00000441003.2 + 30 5602 c.5575C>T c.(5575-5577)Cct>Tct p.P1859S MUC2_ENST00000333592.6_Missense_Mutation_p.P147S|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1862 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) GTCCTCAACCCCTCAGACCTC 0.617000 70 450 0 0 0.014410 0 0 AKAP12 9590 broad.mit.edu 37 6 151671651 151671651 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:151671651G>A ENST00000402676.2 + 4 2365 c.2125G>A c.(2125-2127)Gga>Aga p.G709R AKAP12_ENST00000354675.6_Missense_Mutation_p.G611R|AKAP12_ENST00000359755.5_Missense_Mutation_p.G604R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G709R NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 709 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGCAATGGGAGGAGACCACCA 0.512000 49 88 0 0 0.014410 0 0 DLG2 1740 broad.mit.edu 37 11 83180405 83180405 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:83180405G>A ENST00000398309.2 - 20 2613 c.2143C>T c.(2143-2145)Cca>Tca p.P715S DLG2_ENST00000426717.2_Missense_Mutation_p.P179S|DLG2_ENST00000543673.1_Missense_Mutation_p.P820S|DLG2_ENST00000376104.2_Missense_Mutation_p.P820S|DLG2_ENST00000404783.3_Missense_Mutation_p.P193S|DLG2_ENST00000376106.3_Missense_Mutation_p.P179S|DLG2_ENST00000537455.1_Missense_Mutation_p.P465S|DLG2_ENST00000330014.6_Missense_Mutation_p.P636S|DLG2_ENST00000532653.1_Missense_Mutation_p.P697S|DLG2_ENST00000531015.1_Missense_Mutation_p.P682S|DLG2_ENST00000524982.1_Missense_Mutation_p.P711S|DLG2_ENST00000280241.8_Missense_Mutation_p.P754S|DLG2_ENST00000418306.2_Missense_Mutation_p.P594S NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 715 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTCGCTTTGGCCTCGTAGTA 0.378000 26 34 0 0 0.004656 0 0 SERPINB7 8710 broad.mit.edu 37 18 61463551 61463551 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:61463551G>A ENST00000398019.2 + 5 713 c.388G>A c.(388-390)Gac>Aac p.D130N SERPINB7_ENST00000336429.2_Missense_Mutation_p.D130N|SERPINB7_ENST00000546027.1_Missense_Mutation_p.D130N|SERPINB7_ENST00000540675.1_Missense_Mutation_p.D113N NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 130 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GGAGCGAGTTGACTTTACGAA 0.333000 35 32 0 0 0.004289 0 0 LAMC3 10319 broad.mit.edu 37 9 133961020 133961020 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:133961020G>A ENST00000361069.4 + 25 4273 c.4140G>A c.(4138-4140)gcG>gcA p.A1380A LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1380 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCAAGCAGGCGGAGAGGATGC 0.597000 32 83 0 0 0.009535 0 0 BMP8A 353500 broad.mit.edu 37 1 39988140 39988140 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:39988140G>A ENST00000331593.5 + 5 1280 c.934G>A c.(934-936)Gac>Aac p.D312N RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000417869.1_RNA NM_181809.3 NP_861525.2 Q7Z5Y6 BMP8A_HUMAN bone morphogenetic protein 8a 312 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGCTTCCAGGACCTTGGCTG 0.562000 46 147 0 0 0.014410 0 0 STX10 8677 broad.mit.edu 37 19 13255265 13255265 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:13255265C>T ENST00000587230.1 - 8 773 c.709G>A c.(709-711)Ggg>Agg p.G237R STX10_ENST00000589083.1_3'UTR|STX10_ENST00000242770.5_3'UTR|STX10_ENST00000343587.5_Missense_Mutation_p.G188R NM_001271609.1 NP_001258538.1 O60499 STX10_HUMAN syntaxin 10 237 Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) AGAAGCACCCCCACTAGCACG 0.617000 12 26 0 0 0.001855 0 0 GSDMB 55876 broad.mit.edu 37 17 38063225 38063225 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:38063225G>A ENST00000418519.1 - 7 846 c.716C>T c.(715-717)tCa>tTa p.S239L GSDMB_ENST00000520542.1_Intron|GSDMB_ENST00000394175.2_Intron|GSDMB_ENST00000309481.7_Missense_Mutation_p.S226L|GSDMB_ENST00000394179.1_Intron|GSDMB_ENST00000360317.3_Missense_Mutation_p.S239L NM_001165958.1 NP_001159430.1 Q8TAX9 GSDMB_HUMAN gasdermin B 237 cytoplasm breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 TAAACAGGATGAAGCACCATC 0.512000 40 68 0 0 0.011902 0 0 GALC 2581 broad.mit.edu 37 14 88448555 88448555 + Nonsense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:88448555A>T ENST00000261304.2 - 6 721 c.615T>A c.(613-615)taT>taA p.Y205* GALC_ENST00000544807.2_Nonsense_Mutation_p.Y149*|GALC_ENST00000393568.4_Nonsense_Mutation_p.Y182*|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393569.2_Nonsense_Mutation_p.Y179* NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 205 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 ACACCTTAATATAATTGGCAT 0.289000 23 41 0 0 0.004656 0 0 IGDCC3 9543 broad.mit.edu 37 15 65621279 65621279 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:65621279G>A ENST00000327987.4 - 14 2664 c.2413C>T c.(2413-2415)Cgg>Tgg p.R805W NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 805 breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGGTAACCCGGGCCGCTGCA 0.677000 35 88 0 0 0.003755 0 0 ZNF438 220929 broad.mit.edu 37 10 31138079 31138079 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:31138079G>A ENST00000538351.1 - 7 1862 c.1108C>T c.(1108-1110)Ccc>Tcc p.P370S ZNF438_ENST00000413025.1_Missense_Mutation_p.P419S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.P419S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P409S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P419S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P409S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P409S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P419S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P419S(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) AATTCTTGGGGATCATTTTTT 0.403000 25 56 0 0 0.003330 0 0 PLCB4 5332 broad.mit.edu 37 20 9449219 9449219 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:9449219G>A ENST00000378501.2 + 32 3229 c.3212_splice c.e32-1 p.E1072_splice PLCB4_ENST00000378473.3_Splice_Site_p.E1084_splice|PLCB4_ENST00000278655.4_Splice_Site_p.E1072_splice|PLCB4_ENST00000334005.3_Splice_Site_p.E1072_splice|PLCB4_ENST00000414679.2_Splice_Site_p.E1084_splice|PLCB4_ENST00000378493.1_Splice_Site_p.E1072_splice|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1072 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 AATACATAGGGAAAGCAAGGA 0.403000 39 85 0 0 0.014410 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29976931 29976931 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:29976931G>A ENST00000376797.3 - 0 748 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GATAGAAAAGGAGGGAGCTAC 0.547000 55 118 0 0 0.014410 0 0 COL6A6 131873 broad.mit.edu 37 3 130283890 130283890 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:130283890C>T ENST00000358511.6 + 3 745 c.714C>T c.(712-714)atC>atT p.I238I COL6A6_ENST00000453409.2_Silent_p.I238I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 238 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 ATATGTCAATCAATGGAAGTG 0.428000 157 199 0 0 0.014410 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967099 106967099 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:106967099C>T ENST00000390622.2 - 0 604 CTGCTCAGCTCCATGTAGACT 0.542000 108 286 0 0 0.014410 0 0 LGR5 8549 broad.mit.edu 37 12 71977622 71977622 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:71977622C>T ENST00000266674.5 + 18 2143 c.1832C>T c.(1831-1833)gCc>gTc p.A611V LGR5_ENST00000540815.2_Missense_Mutation_p.A587V|LGR5_ENST00000536515.1_Missense_Mutation_p.A539V|RP11-186F10.2_ENST00000546601.1_RNA O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 611 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 GTCTCCAGTGCCGTGCTGGCT 0.512000 104 350 0 0 0.014410 0 0 EXOC4 60412 broad.mit.edu 37 7 132937894 132937894 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:132937894A>C ENST00000253861.4 + 1 66 c.37A>C c.(37-39)Aca>Cca p.T13P EXOC4_ENST00000393161.2_Missense_Mutation_p.T13P NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 13 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) ATACAGAAGCACAGTCAGCAA 0.597000 45 128 0 0 0.014410 0 0 EPB41 2035 broad.mit.edu 37 1 29379626 29379626 + Silent SNP C C T rs145888614 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:29379626C>T ENST00000343067.4 + 12 1774 c.1647C>T c.(1645-1647)gtC>gtT p.V549V EPB41_ENST00000373797.1_Silent_p.V549V|EPB41_ENST00000398863.2_Silent_p.V549V|EPB41_ENST00000347529.3_Silent_p.V514V|EPB41_ENST00000373800.3_Silent_p.V340V|EPB41_ENST00000356093.2_Silent_p.V549V|EPB41_ENST00000349460.4_Silent_p.V340V|EPB41_ENST00000373798.1_Silent_p.V549V NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 549 Hydrophilic. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton p.V340V(1)|p.V549V(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAGCAGCTGTCGATTCGGCAG 0.483000 17 50 0 0 0.004990 0 0 ING2 3622 broad.mit.edu 37 4 184431602 184431602 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:184431602C>T ENST00000302327.3 + 2 542 c.340C>T c.(340-342)Cgg>Tgg p.R114W ING2_ENST00000434682.2_Missense_Mutation_p.R74W NM_001564.2 NP_001555.1 Q9H160 ING2_HUMAN inhibitor of growth family, member 2 114 chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent CCAAT-binding factor complex|Sin3 complex chromatin binding|DNA binding|protein complex binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 7 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) GGTGGAAAATCGGGCAAGACA 0.418000 23 166 0 0 0.002780 0 0 MYLK 4638 broad.mit.edu 37 3 123451911 123451911 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:123451911C>T ENST00000360772.3 - 12 1726 c.1348G>A c.(1348-1350)Gaa>Aaa p.E450K MYLK_ENST00000360304.3_Missense_Mutation_p.E450K|MYLK_ENST00000359169.1_Missense_Mutation_p.E450K|MYLK_ENST00000475616.1_Missense_Mutation_p.E450K|MYLK_ENST00000346322.5_Intron Q15746 MYLK_HUMAN myosin light chain kinase 450 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGGGTGCCTTCCAGGAACCAG 0.572000 20 34 0 0 0.003330 0 0 OR4C15 81309 broad.mit.edu 37 11 55322738 55322738 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:55322738C>T ENST00000314644.2 + 1 956 c.956C>T c.(955-957)tCc>tTc p.S319F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TCTGCTTTTTCCCTTGACAAA 0.403000 HNSCC(20;0.049) 37 70 0 0 0.006230 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023706 18023706 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:18023706G>A ENST00000361221.3 + 29 3830 c.3671G>A c.(3670-3672)cGg>cAg p.R1224Q ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R1185Q|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R997Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R927Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R1185Q|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1224 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GTGCGCAGCCGGCCCTGCGCC 0.682000 25 57 0 0 0.003954 0 0 PLCB1 23236 broad.mit.edu 37 20 8630085 8630085 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:8630085C>T ENST00000378641.3 + 7 1058 c.583C>T c.(583-585)Cca>Tca p.P195S PLCB1_ENST00000378637.2_Missense_Mutation_p.P195S|PLCB1_ENST00000338037.6_Missense_Mutation_p.P195S NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 195 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTGTAGTCTTCCATCTTCAAG 0.408000 36 69 0 0 0.006999 0 0 CHD8 57680 broad.mit.edu 37 14 21894394 21894394 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:21894394T>G ENST00000399982.2 - 4 1673 c.1609A>C c.(1609-1611)Act>Cct p.T537P CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.T258P|CHD8_ENST00000557364.1_Missense_Mutation_p.T537P NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 537 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACTACAGGAGTGATGGTGCTA 0.353000 14 21 0 0 0.003163 0 0 FLNB 2317 broad.mit.edu 37 3 58154221 58154221 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:58154221C>T ENST00000295956.4 + 44 7418 c.7253C>T c.(7252-7254)tCc>tTc p.S2418F FLNB_ENST00000429972.2_Missense_Mutation_p.S2407F|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.S2238F|FLNB_ENST00000493452.1_Missense_Mutation_p.S2225F|FLNB_ENST00000358537.3_Missense_Mutation_p.S2394F|FLNB_ENST00000490882.1_Missense_Mutation_p.S2449F|FLNB_ENST00000348383.5_Missense_Mutation_p.S2377F|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000357272.4_3'UTR NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2418 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GGGACATTATCCGTCACCATC 0.488000 46 60 0 0 0.014410 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118352031 118352031 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:118352031G>A ENST00000528052.1 + 4 379 c.308G>A c.(307-309)aGc>aAc p.S103N PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S103N|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S103N|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.S103N P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 103 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GGAGATGAGAGCTGGGTGACA 0.483000 48 48 0 0 0.014410 0 0 TGM6 343641 broad.mit.edu 37 20 2375243 2375243 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:2375243G>A ENST00000202625.2 + 2 214 c.153G>A c.(151-153)gaG>gaA p.E51E TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.E51E NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 51 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) TGGACTGTGAGGAGATCCTCA 0.592000 13 25 0 0 0.013537 0 0 CDSN 1041 broad.mit.edu 37 6 31084228 31084228 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31084228C>T ENST00000376288.2 - 2 1190 c.1164G>A c.(1162-1164)aaG>aaA p.K388K PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 388 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AGCAGGGTCCCTTGGAGCCCG 0.637000 6 18 0 0 0.001168 0 0 AP3B2 8120 broad.mit.edu 37 15 83333168 83333168 + Missense_Mutation SNP C C T rs34200105 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:83333168C>T ENST00000261722.3 - 18 2362 c.2155G>A c.(2155-2157)Gac>Aac p.D719N AP3B2_ENST00000535359.1_Missense_Mutation_p.D738N|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.D687N NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 719 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TCTTCATTGTCGGACTCACTG 0.572000 36 89 0 0 0.004878 0 0 OBSCN 84033 broad.mit.edu 37 1 228491558 228491558 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:228491558C>T ENST00000570156.2 + 52 13995 c.13921C>T c.(13921-13923)Cgt>Tgt p.R4641C OBSCN_ENST00000366707.4_Missense_Mutation_p.R1331C|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3684 Ig-like 47. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGCAGATTCGTGGCCTGGC 0.597000 75 126 0 0 0.014410 0 0 C5AR1 728 broad.mit.edu 37 19 47823154 47823154 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:47823154C>T ENST00000355085.3 + 2 142 c.120C>T c.(118-120)gcC>gcT p.A40A NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 40 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) ACATCCTGGCCTTGGTCATCT 0.552000 51 77 0 0 0.014410 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871953 51871953 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:51871953G>A ENST00000371497.5 + 2 2843 c.1956G>A c.(1954-1956)aaG>aaA p.K652K TSHZ2_ENST00000603338.2_Silent_p.K649K|TSHZ2_ENST00000329613.6_Silent_p.K649K NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 652 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GTCCCCTGAAGGAGGAGGAGA 0.582000 24 93 0 0 0.003954 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949744 45949744 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:45949744G>A ENST00000323084.4 - 5 792 c.727C>T c.(727-729)Cca>Tca p.P243S TSPEAR_ENST00000397916.1_Missense_Mutation_p.P175S NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 243 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 AGGACCCGTGGGATGGACAGC 0.637000 29 72 0 0 0.003271 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482006 76482006 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:76482006C>T ENST00000307431.8 + 6 1018 c.633C>T c.(631-633)ttC>ttT p.F211F CNTNAP4_ENST00000476707.1_Silent_p.F215F|CNTNAP4_ENST00000478060.1_Silent_p.F187F|CNTNAP4_ENST00000377504.4_Silent_p.F211F|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 212 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CTTTGAAATTCAAAACCATGC 0.378000 22 40 0 0 0.014323 0 0 HEPH 9843 broad.mit.edu 37 X 65486505 65486505 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:65486505C>T ENST00000519389.1 + 21 3809 c.3630C>T c.(3628-3630)ttC>ttT p.F1210F HEPH_ENST00000343002.2_Silent_p.F1156F|HEPH_ENST00000419594.1_Silent_p.F967F|HEPH_ENST00000374727.3_Silent_p.F1159F|HEPH_ENST00000336279.5_Silent_p.F889F|HEPH_ENST00000441993.2_Silent_p.F1158F Q9BQS7 HEPH_HUMAN hephaestin 1156 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TTCTGTCTTTCAAACAGTAAC 0.507000 15 8 0 0 0.002450 0 0 TP63 8626 broad.mit.edu 37 3 189608668 189608668 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:189608668G>A ENST00000264731.3 + 13 1832 c.1743G>A c.(1741-1743)atG>atA p.M581I TP63_ENST00000392460.3_Intron|TP63_ENST00000440651.2_Missense_Mutation_p.M577I|TP63_ENST00000392463.2_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.M483I|TP63_ENST00000449992.1_Missense_Mutation_p.M402I|TP63_ENST00000354600.5_Missense_Mutation_p.M487I|TP63_ENST00000382063.4_Missense_Mutation_p.M496I|TP63_ENST00000392461.3_Intron|TP63_ENST00000320472.5_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 581 SAM. 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) ATTACTCCATGGATGTAAGTA 0.408000 HNSCC(45;0.13) 20 60 0 0 0.008871 0 0 AFM 173 broad.mit.edu 37 4 74347571 74347571 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:74347571C>T ENST00000226355.3 + 1 172 c.79C>T c.(79-81)Cgg>Tgg p.R27W NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 27 Albumin 1. 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) CACACAACCTCGGGATATAGG 0.294000 27 51 0 0 0.009535 0 0 DNAH5 1767 broad.mit.edu 37 5 13817791 13817791 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:13817791G>A ENST00000265104.4 - 42 6958 c.6854C>T c.(6853-6855)cCa>cTa p.P2285L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2285 AAA 2 (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) TTCCCGATGTGGTTTTCCACA 0.423000 Kartagener syndrome 28 64 0 0 0.010818 0 0 ATAD3B 83858 broad.mit.edu 37 1 1416287 1416287 + Missense_Mutation SNP C C T rs145500839 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:1416287C>T ENST00000308647.7 + 5 601 c.485C>T c.(484-486)tCc>tTc p.S162F ATAD3B_ENST00000378736.2_3'UTR|ATAD3B_ENST00000378741.3_5'UTR NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 162 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CAGGAGGAGTCCGTGCAGAAG 0.552000 36 139 0 0 0.014410 0 0 HTT 3064 broad.mit.edu 37 4 3240606 3240606 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:3240606C>T ENST00000355072.5 + 66 9261 c.9116C>T c.(9115-9117)tCc>tTc p.S3039F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 3039 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTCATGCTGTCCCTCTCCAAC 0.652000 8 27 0 0 0.004482 0 0 ZNF645 158506 broad.mit.edu 37 X 22292216 22292216 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:22292216G>A ENST00000323684.1 + 1 1152 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 370 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TCAGTTCACCGAAAATCAAGA 0.448000 48 76 0 0 0.014410 0 0 TDRD5 163589 broad.mit.edu 37 1 179620077 179620077 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:179620077G>A ENST00000444136.1 + 12 2126 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K TDRD5_ENST00000367614.1_Missense_Mutation_p.E626K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E626K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 626 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 GGTAGTGGATGAATATGTAGA 0.398000 59 167 0 0 0.014410 0 0 ARID5A 10865 broad.mit.edu 37 2 97217345 97217345 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:97217345G>A ENST00000454558.2 + 7 2053 c.876G>A c.(874-876)agG>agA p.R292R ARID5A_ENST00000357485.3_Silent_p.R360R Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 360 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 AGCACCCCAGGGACTTCTTCT 0.632000 16 33 0 0 0.004007 0 0 PPP1R10 5514 broad.mit.edu 37 6 30573710 30573710 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:30573710G>A ENST00000376511.2 - 10 1395 c.843C>T c.(841-843)atC>atT p.I281I NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 281 Interaction with TOX4 (By similarity). 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 GCTGTGGCGGGATGATCTTCA 0.453000 239 535 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9072587 9072587 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9072587G>A ENST00000397910.4 - 3 15062 c.14859C>T c.(14857-14859)tcC>tcT p.S4953S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4955 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 TGGTTTCTGTGGAGATGTCTA 0.512000 37 94 0 0 0.004878 0 0 CYP2C9 1559 broad.mit.edu 37 10 96702020 96702020 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:96702020G>A ENST00000260682.6 + 3 415 c.403G>A c.(403-405)Ggg>Agg p.G135R CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 135 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GCGGAATTTTGGGATGGGGAA 0.502000 45 48 0 0 0.014410 0 0 ADCY1 107 broad.mit.edu 37 7 45753460 45753460 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:45753460C>T ENST00000297323.7 + 20 3248 c.3226C>T c.(3226-3228)Cca>Tca p.P1076S NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 1076 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) GAAAATGTGTCCATTTGGGAG 0.587000 17 152 0 0 0.006122 0 0 THSD7B 80731 broad.mit.edu 37 2 137928362 137928362 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:137928362G>A ENST00000409968.1 + 7 1755 c.1577G>A c.(1576-1578)gGg>gAg p.G526E THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G495E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G526E|THSD7B_ENST00000485379.1_3'UTR 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) GGGCCTGCAGGGCATTGCCCT 0.473000 11 39 0 0 0.008291 0 0 KLK8 11202 broad.mit.edu 37 19 51503822 51503822 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51503822C>T ENST00000600767.1 - 4 577 c.88G>A c.(88-90)Gag>Aag p.E30K KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.E75K|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000347619.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000291726.7_Missense_Mutation_p.E30K O60259 KLK8_HUMAN kallikrein-related peptidase 8 30 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) ACCTTGTCCTCCTGTGCCCTG 0.632000 40 62 0 0 0.006999 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101771 69101771 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:69101771T>C ENST00000332644.5 - 4 418 c.257A>G c.(256-258)cAa>cGa p.Q86R NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 86 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 ACTGGAATTTTGAAATGCATT 0.249000 7 27 0 0 0.001984 0 0 ADCK1 57143 broad.mit.edu 37 14 78353448 78353448 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:78353448C>T ENST00000238561.5 + 5 537 c.438C>T c.(436-438)ttC>ttT p.F146F ADCK1_ENST00000341211.5_Silent_p.F78F NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 153 extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATGATTTGTTCCAGAGCTTCG 0.592000 73 196 0 0 0.014410 0 0 TMOD3 29766 broad.mit.edu 37 15 52194155 52194155 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:52194155C>T ENST00000308580.7 + 9 1227 c.946C>T c.(946-948)Ctt>Ttt p.L316F TMOD3_ENST00000544199.1_Missense_Mutation_p.L316F NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 316 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) TACAAATATCCTTAAATTTGG 0.368000 32 70 0 0 0.012213 0 0 MYH1 4619 broad.mit.edu 37 17 10408543 10408543 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:10408543C>T ENST00000226207.5 - 21 2466 c.2372G>A c.(2371-2373)cGa>cAa p.R791Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 791 IQ. 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 GGCCTGGGTTCGGGTAATCAG 0.458000 37 50 0 0 0.006999 0 0 FAM196A 642938 broad.mit.edu 37 10 128973812 128973812 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:128973812G>A ENST00000522781.1 - 4 1403 c.848C>T c.(847-849)cCg>cTg p.P283L FAM196A_ENST00000424811.2_Missense_Mutation_p.P283L|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 283 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTCATCTGCCGGGCAGAGTGA 0.662000 29 28 0 0 0.007291 0 0 NOD2 64127 broad.mit.edu 37 16 50765676 50765676 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:50765676C>T ENST00000300589.2 + 12 3174 c.3069C>T c.(3067-3069)ttC>ttT p.F1023F NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 1023 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GGAACACTTTCTCTCTAGAGG 0.478000 25 54 0 0 0.006320 0 0 MBD5 55777 broad.mit.edu 37 2 149270438 149270438 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:149270438G>A ENST00000407073.1 + 15 5410 c.e15-1 MBD5_ENST00000404807.1_Splice_Site NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TTTATTTCCAGGTACACCAAA 0.433000 29 99 0 0 0.008361 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589279 140589279 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140589279G>A ENST00000239450.2 + 1 989 c.800G>A c.(799-801)tGg>tAg p.W267* PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 267 Cadherin 3. 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) GTCTCAGCCTGGGATTTAGAC 0.428000 107 214 0 0 0.014410 0 0 SRPK1 6732 broad.mit.edu 37 6 35856695 35856695 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:35856695A>G ENST00000373825.2 - 4 484 c.199T>C c.(199-201)Tat>Cat p.Y67H SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR|SRPK1_ENST00000423325.2_Missense_Mutation_p.Y51H Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 67 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 ACAAGATGATAACCTCCTGGA 0.363000 61 142 0 0 0.014410 0 0 ADCK3 56997 broad.mit.edu 37 1 227153028 227153028 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:227153028C>T ENST00000366779.1 + 8 3276 c.505C>T c.(505-507)Cct>Tct p.P169S ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.P94S|ADCK3_ENST00000366778.1_Missense_Mutation_p.P117S|ADCK3_ENST00000366777.3_Missense_Mutation_p.P169S|ADCK3_ENST00000366775.1_Missense_Mutation_p.P14S|ADCK3_ENST00000478406.1_Intron Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 169 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GGACCAATCCCCTGTTGGGGG 0.617000 15 50 0 0 0.004007 0 0 ACVRL1 94 broad.mit.edu 37 12 52309284 52309284 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52309284G>A ENST00000550683.1 + 6 1191 c.1090_splice c.e6+1 p.G364_splice ACVRL1_ENST00000388922.4_Splice_Site_p.G350_splice|ACVRL1_ENST00000419526.2_Splice_Site_p.G176_splice NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 350 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) CGCCGACCTGGGTGAGCCGGG 0.622000 15 36 0 0 0.003163 0 0 COBLL1 22837 broad.mit.edu 37 2 165551228 165551228 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:165551228G>A ENST00000375458.2 - 11 2895 c.2674C>T c.(2674-2676)Cct>Tct p.P892S COBLL1_ENST00000342193.4_Missense_Mutation_p.P930S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P997S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P930S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P968S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 968 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GCAGGATTAGGGGCAGCATGG 0.478000 10 36 0 0 0.008291 0 0 ERMN 57471 broad.mit.edu 37 2 158178150 158178150 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:158178150C>T ENST00000410096.1 - 3 779 c.488G>A c.(487-489)cGa>cAa p.R163Q ERMN_ENST00000420719.2_Missense_Mutation_p.R143Q|ERMN_ENST00000397283.2_Missense_Mutation_p.R176Q|ERMN_ENST00000535935.1_Missense_Mutation_p.R57Q NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 163 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 GCTAGGTTTTCGAAATCCCAG 0.418000 47 82 0 0 0.014410 0 0 SSPO 23145 broad.mit.edu 37 7 149481963 149481963 + RNA SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:149481963C>A ENST00000378016.2 + 0 2753 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCCACTGCCCTTCACAGGGG 0.617000 44 157 2.01872e-29 2.06882e-29 0.014410 1 0 NPNT 255743 broad.mit.edu 37 4 106861298 106861298 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:106861298G>A ENST00000379987.2 + 6 788 c.572G>A c.(571-573)gGg>gAg p.G191E NPNT_ENST00000305572.8_Missense_Mutation_p.G191E|NPNT_ENST00000453617.2_Missense_Mutation_p.G208E|NPNT_ENST00000427316.2_Missense_Mutation_p.G221E|NPNT_ENST00000514622.1_Missense_Mutation_p.G191E|NPNT_ENST00000506666.1_Missense_Mutation_p.G221E NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 191 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AACACTTTTGGGAGCTACATC 0.398000 21 62 0 0 0.010504 0 0 SPIB 6689 broad.mit.edu 37 19 50923207 50923207 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:50923207G>A ENST00000595883.1 + 2 53 c.28G>A c.(28-30)Gac>Aac p.D10N SPIB_ENST00000597855.1_Missense_Mutation_p.D10N|SPIB_ENST00000270632.7_Missense_Mutation_p.D10N|SPIB_ENST00000596074.1_Missense_Mutation_p.D10N|SPIB_ENST00000439922.2_5'UTR NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 10 TAD1 (Acidic). regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CTCCAGGCTCGACGGGCCACA 0.647000 14 13 0 0 0.004990 0 0 ALOX15B 247 broad.mit.edu 37 17 7943291 7943291 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7943291G>A ENST00000380183.4 + 3 578 c.439G>A c.(439-441)Gag>Aag p.E147K ALOX15B_ENST00000573359.1_Missense_Mutation_p.E147K|ALOX15B_ENST00000380173.2_Missense_Mutation_p.E147K|ALOX15B_ENST00000572022.1_Missense_Mutation_p.E147K NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 147 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GGCCCGGCAGGAGATGTACCA 0.607000 27 45 0 0 0.004656 0 0 DOCK3 1795 broad.mit.edu 37 3 51284163 51284163 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:51284163C>T ENST00000266037.9 + 22 2132 c.2109C>T c.(2107-2109)ctC>ctT p.L703L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 703 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) CCAGGGAGCTCATCCGCTGTT 0.428000 12 50 0 0 0.003163 0 0 PDE11A 50940 broad.mit.edu 37 2 178879164 178879164 + Silent SNP G G A rs144284382 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:178879164G>A ENST00000286063.5 - 2 1253 c.936C>T c.(934-936)atC>atT p.I312I PDE11A_ENST00000358450.4_Silent_p.I62I NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 312 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.I62I(1)|p.I312I(1) 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) TTAGCTTGTCGATTTCATCAT 0.393000 Primary Pigmented Nodular Adrenocortical Disease, Familial 13 31 0 0 0.013537 0 0 RHOU 58480 broad.mit.edu 37 1 228871726 228871726 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:228871726C>T ENST00000366691.3 + 1 903 c.237C>T c.(235-237)atC>atT p.I79I NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 79 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) CCGAGTACATCCCTACTGCCT 0.716000 28 48 0 0 0.010818 0 0 ZNF675 171392 broad.mit.edu 37 19 23837110 23837110 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:23837110C>A ENST00000359788.4 - 4 793 c.625G>T c.(625-627)Gtt>Ttt p.V209F ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 209 Missing (in Ref. 2; BAC04216). bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GATTGGTTAACAGCTTTTTCA 0.323000 28 19 4.59853e-10 4.68326e-10 0.005443 1 0 SLC17A6 57084 broad.mit.edu 37 11 22399224 22399224 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:22399224G>A ENST00000263160.3 + 12 2124 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 563 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 AAAGAAAGAGGAATTTGTACA 0.363000 5 46 0 0 0.000602 0 0 ZP4 57829 broad.mit.edu 37 1 238048779 238048779 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:238048779G>A ENST00000366570.4 - 8 1230 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 358 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CCCAGGTAGGGGTCTGTTCTG 0.537000 30 59 0 0 0.008361 0 0 MALAT1 378938 broad.mit.edu 37 11 65272040 65272040 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65272040G>A ENST00000534336.1 + 0 6808 NR_002819.2 GATTGAAGCTGAGTACATTTT 0.393000 23 30 0 0 0.014323 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788196 3788196 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:3788196C>T ENST00000440314.2 - 6 882 c.409G>A c.(409-411)Gaa>Aaa p.E137K EFCAB4B_ENST00000444507.1_Missense_Mutation_p.E137K|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.E137K NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 137 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) ACCTTCTCTTCATGGCGCTGG 0.557000 32 80 0 0 0.012213 0 0 FLNB 2317 broad.mit.edu 37 3 58155360 58155360 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:58155360C>T ENST00000295956.4 + 45 7626 c.7461C>T c.(7459-7461)tcC>tcT p.S2487S FLNB_ENST00000429972.2_Silent_p.S2476S|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Silent_p.S2307S|FLNB_ENST00000493452.1_Silent_p.S2294S|FLNB_ENST00000358537.3_Silent_p.S2463S|FLNB_ENST00000490882.1_Silent_p.S2518S|FLNB_ENST00000348383.5_Silent_p.S2446S|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000357272.4_3'UTR NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2487 Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity). S -> C (in Ref. 11; AAA35505). actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGACCTCATCCATCCTGGTGG 0.587000 83 350 0 0 0.014410 0 0 PRR23A 729627 broad.mit.edu 37 3 138724853 138724853 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:138724853C>T ENST00000383163.2 - 1 257 c.258G>A c.(256-258)tcG>tcA p.S86S MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 86 endometrium(3)|kidney(1)|lung(7) 11 CTCGCAGGATCGACGTTGGCG 0.662000 10 45 0 0 0.006214 0 0 OTOR 56914 broad.mit.edu 37 20 16729070 16729070 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:16729070C>T ENST00000246081.2 + 1 68 c.24C>T c.(22-24)ttC>ttT p.F8F NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 8 sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TGTTACTTTTCCTCCCGGGTC 0.443000 72 164 0 0 0.014410 0 0 PTPRC 5788 broad.mit.edu 37 1 198703337 198703337 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:198703337C>T ENST00000367376.2 + 21 2320 c.2149C>T c.(2149-2151)Ccc>Tcc p.P717S PTPRC_ENST00000348564.6_Missense_Mutation_p.P558S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P669S|PTPRC_ENST00000594404.1_Missense_Mutation_p.P556S|PTPRC_ENST00000442510.2_Missense_Mutation_p.P719S NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 717 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TTTCAAAGAACCCAGGAAATA 0.299000 8 29 0 0 0.003080 0 0 MAP3K2 10746 broad.mit.edu 37 2 128066222 128066222 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:128066222G>A ENST00000409947.1 - 16 1855 c.1573C>T c.(1573-1575)Cca>Tca p.P525S MAP3K2_ENST00000344908.5_Missense_Mutation_p.P525S Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 525 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) ATCCAGTATGGTGTGCCCGTG 0.488000 56 154 0 0 0.014410 0 0 HOMER2 9455 broad.mit.edu 37 15 83544044 83544044 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:83544044G>A ENST00000304231.8 - 3 467 c.275C>T c.(274-276)tCt>tTt p.S92F HOMER2_ENST00000450735.2_Missense_Mutation_p.S92F|HOMER2_ENST00000399166.2_Missense_Mutation_p.S92F|HOMER2_ENST00000426485.1_Missense_Mutation_p.S92F NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 92 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 CTGCTGCTCAGAGGAAAACCC 0.517000 21 49 0 0 0.010504 0 0 CCDC178 374864 broad.mit.edu 37 18 30672787 30672787 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:30672787T>C ENST00000383096.3 - 21 2508 c.2326A>G c.(2326-2328)Aat>Gat p.N776D CCDC178_ENST00000403303.1_Missense_Mutation_p.N776D|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.N776D|CCDC178_ENST00000583930.1_Missense_Mutation_p.N776D|CCDC178_ENST00000300227.8_Missense_Mutation_p.N738D|CCDC178_ENST00000579947.1_Missense_Mutation_p.N776D|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000581852.1_Intron coiled-coil domain containing 178 TTGAAATAATTGTCCTTTTCT 0.279000 19 30 0 0 0.008871 0 0 DSG4 147409 broad.mit.edu 37 18 28968889 28968889 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:28968889A>G ENST00000359747.4 + 5 454 c.425A>G c.(424-426)gAg>gGg p.E142G RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E142G|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 142 Cadherin 1. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGCCTCTTGAGCTTAGAGTC 0.398000 31 35 0 0 0.008361 0 0 OR1D2 4991 broad.mit.edu 37 17 2995956 2995956 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:2995956T>C ENST00000331459.1 - 1 334 c.335A>G c.(334-336)aAc>aGc p.N112S NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 112 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 CAGGATGAGGTTGTCCAGGGC 0.547000 46 56 0 0 0.014410 0 0 CT47B1 643311 broad.mit.edu 37 X 120008992 120008992 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:120008992C>T ENST00000371311.3 - 1 787 c.533G>A c.(532-534)gGg>gAg p.G178E NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 178 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GGCTGCAGCCCCTGCACCCAG 0.701000 42 60 0 0 0.008740 0 0 KCNT1 57582 broad.mit.edu 37 9 138662882 138662882 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:138662882G>A ENST00000298480.5 + 18 2023 c.1949G>A c.(1948-1950)gGg>gAg p.G650E KCNT1_ENST00000487664.1_Missense_Mutation_p.G605E|KCNT1_ENST00000263604.3_Missense_Mutation_p.G631E|KCNT1_ENST00000371757.2_Missense_Mutation_p.G650E|KCNT1_ENST00000491806.2_Missense_Mutation_p.G617E|KCNT1_ENST00000490355.2_Missense_Mutation_p.G631E|KCNT1_ENST00000486577.2_Missense_Mutation_p.G611E|KCNT1_ENST00000488444.2_Missense_Mutation_p.G631E B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 650 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) GCCTTCTCGGGGCAGGGGCTG 0.657000 11 24 0 0 0.008291 0 0 TRIM35 23087 broad.mit.edu 37 8 27145626 27145626 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:27145626G>A ENST00000305364.4 - 6 1006 c.923C>T c.(922-924)cCc>cTc p.P308L TRIM35_ENST00000521253.1_3'UTR NM_171982.3 NP_741983.2 Q9UPQ4 TRI35_HUMAN tripartite motif containing 35 308 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) TGCGGTGTTGGGGTCAAAGCT 0.597000 39 65 0 0 0.006230 0 0 INSL3 3640 broad.mit.edu 37 19 17927841 17927841 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:17927841C>T ENST00000379695.5 - 3 380 c.313G>A c.(313-315)Gac>Aac p.D105N INSL3_ENST00000317306.7_Missense_Mutation_p.R73Q NM_001265587.1 NP_001252516.1 P51460 INSL3_HUMAN insulin-like 3 (Leydig cell) 0 cell-cell signaling|spermatogenesis soluble fraction hormone activity|insulin receptor binding|signal transducer activity breast(1)|lung(1) 2 GAGCAGATGTCGTCTCTCCAG 0.602000 44 60 0 0 0.013114 0 0 KRT78 196374 broad.mit.edu 37 12 53237949 53237949 + Silent SNP C C T rs140207612 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:53237949C>T ENST00000359499.4 - 6 656 c.645G>A c.(643-645)acG>acA p.T215T KRT78_ENST00000304620.4_Silent_p.T325T Q8N1N4 K2C78_HUMAN keratin 78 325 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TCTGGACTTTCGTTTCCTGCA 0.532000 95 249 0 0 0.014410 0 0 HGF 3082 broad.mit.edu 37 7 81381451 81381451 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:81381451G>A ENST00000222390.5 - 5 836 c.610C>T c.(610-612)Cct>Tct p.P204S HGF_ENST00000457544.2_Missense_Mutation_p.P199S|HGF_ENST00000453411.1_Missense_Mutation_p.P199S|HGF_ENST00000423064.2_Missense_Mutation_p.P204S|HGF_ENST00000444829.2_Missense_Mutation_p.P204S NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 204 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 GAACACTGAGGAATGTCACAG 0.458000 14 46 0 0 0.003163 0 0 MTRF1L 54516 broad.mit.edu 37 6 153314014 153314014 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:153314014G>A ENST00000367233.5 - 5 782 c.783C>T c.(781-783)gtC>gtT p.V261V MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Silent_p.V225V|MTRF1L_ENST00000367231.5_Silent_p.V261V NM_019041.5 NP_061914.3 Q9UGC7 RF1ML_HUMAN mitochondrial translational release factor 1-like 261 mitochondrion translation release factor activity, codon specific endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888) GAACTATCCGGACAGCACTGT 0.388000 60 96 0 0 0.014410 0 0 ADCY1 107 broad.mit.edu 37 7 45725734 45725734 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:45725734C>T ENST00000297323.7 + 13 2269 c.2247C>T c.(2245-2247)tcC>tcT p.S749S NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 749 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) GGGTGTCCTCCTTGCCAAAAA 0.602000 48 90 0 0 0.014410 0 0 ABCC9 10060 broad.mit.edu 37 12 21960358 21960358 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:21960358A>T ENST00000261200.4 - 36 4370 c.4371T>A c.(4369-4371)ttT>ttA p.F1457L ABCC9_ENST00000345162.2_Missense_Mutation_p.F1421L|ABCC9_ENST00000261201.4_Missense_Mutation_p.F1457L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1457 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGGCAAGGCAAAATAGCTGTC 0.438000 16 55 0 0 0.004007 0 0 GPR78 27201 broad.mit.edu 37 4 8582718 8582718 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:8582718C>T ENST00000382487.4 + 1 426 c.9C>T c.(7-9)ccC>ccT p.P3P GPR78_ENST00000509216.1_Intron NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 3 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CCATGGGCCCCGGCGAGGCGC 0.682000 9 20 0 0 0.006214 0 0 RUSC2 9853 broad.mit.edu 37 9 35555488 35555488 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:35555488C>T ENST00000455600.1 + 3 3015 c.2446C>T c.(2446-2448)Cca>Tca p.P816S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 816 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AAGCCTGCCCCCATGGAGCCA 0.627000 82 119 0 0 0.014410 0 0 IFIH1 64135 broad.mit.edu 37 2 163163287 163163287 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:163163287T>C ENST00000263642.2 - 3 1096 c.701A>G c.(700-702)gAg>gGg p.E234G NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 234 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GACCTCCTTCTCCAGATTTGG 0.383000 19 64 0 0 0.008871 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862794 10862794 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:10862794G>A ENST00000559480.1 + 0 90 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GGGCTGAGGTGAAGAAGCCTG 0.567000 15 148 0 0 0.004990 0 0 RET 5979 broad.mit.edu 37 10 43604645 43604645 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:43604645C>T ENST00000355710.3 + 6 1462 c.1230C>T c.(1228-1230)ctC>ctT p.L410L RET_ENST00000340058.5_Silent_p.L410L NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 410 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCTACTCCCTCTCCGTGAGCA 0.622000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 28 38 0 0 0.007291 0 0 C12orf52 84934 broad.mit.edu 37 12 113629415 113629415 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:113629415C>T ENST00000548278.1 + 4 1295 c.603C>T c.(601-603)tcC>tcT p.S201S RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.S225S|C12orf52_ENST00000549621.1_Silent_p.S201S NM_032848.1 NP_116237.1 Q96K30 RITA_HUMAN chromosome 12 open reading frame 52 201 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 TTTCCCATTCCCTCACCCACC 0.612000 26 88 0 0 0.003954 0 0 CGNL1 84952 broad.mit.edu 37 15 57731026 57731026 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:57731026C>T ENST00000281282.5 + 2 907 c.829C>T c.(829-831)Ccc>Tcc p.P277S NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 277 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGATGTTCTTCCCTTCCGGCG 0.612000 30 60 0 0 0.008361 0 0 RTTN 25914 broad.mit.edu 37 18 67844067 67844067 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:67844067G>A ENST00000255674.6 - 11 1606 c.1320C>T c.(1318-1320)ctC>ctT p.L440L RTTN_ENST00000454359.1_Silent_p.L440L|RTTN_ENST00000437017.1_Silent_p.L440L NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 440 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CCAACACCAGGAGTAGTTTCT 0.418000 37 62 0 0 0.005524 0 0 RABL6 55684 broad.mit.edu 37 9 139718065 139718065 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:139718065C>T ENST00000371663.4 + 2 494 c.219C>T c.(217-219)atC>atT p.I73I RABL6_ENST00000311502.7_Silent_p.I73I|RABL6_ENST00000357466.2_Silent_p.I73I|RABL6_ENST00000371671.4_Silent_p.I73I|RABL6_ENST00000432842.2_Silent_p.I35I NM_001173988.1|NM_024718.4 NP_001167459.1|NP_078994.3 RAB, member RAS oncogene family-like 6 AGGAGTACATCCCCACACAGG 0.627000 23 29 0 0 0.002780 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688910 26688910 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:26688910G>A ENST00000529632.2 + 2 829 c.633G>A c.(631-633)gtG>gtA p.V211V SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.V211V|SEZ6L_ENST00000248933.6_Silent_p.V211V|SEZ6L_ENST00000343706.4_Silent_p.V211V|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Silent_p.V211V 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 211 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 AGCCCTATGTGGCCCACACAC 0.652000 50 200 0 0 0.014410 0 0 PCDH18 54510 broad.mit.edu 37 4 138451960 138451960 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:138451960C>T ENST00000344876.4 - 1 1669 c.1283G>A c.(1282-1284)aGa>aAa p.R428K PCDH18_ENST00000412923.2_Missense_Mutation_p.R428K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R208K NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 428 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) ATACTCAGATCTCTTTTCTCT 0.353000 30 59 0 0 0.007291 0 0 RAB5A 5868 broad.mit.edu 37 3 20017216 20017216 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:20017216C>T ENST00000273047.4 + 3 823 c.287C>T c.(286-288)gCc>gTc p.A96V RAB5A_ENST00000422242.1_Missense_Mutation_p.A82V NM_004162.4 NP_004153.2 P20339 RAB5A_HUMAN RAB5A, member RAS oncogene family 96 blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GDP binding|GTP binding|GTPase activity lung(1)|urinary_tract(1) 2 GCACAAGCAGCCATAGTTGTA 0.373000 25 96 0 0 0.004656 0 0 ENTPD1 953 broad.mit.edu 37 10 97625967 97625967 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:97625967T>C ENST00000371203.5 + 9 1533 c.946T>C c.(946-948)Tac>Cac p.Y316H ENTPD1_ENST00000539125.1_Missense_Mutation_p.Y316H|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Y454H|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000371207.3_Missense_Mutation_p.Y466H|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.Y346H|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Y461H NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 454 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) GACTTTGGGCTACATGCTGAA 0.522000 16 29 0 0 0.007413 0 0 IMPG2 50939 broad.mit.edu 37 3 100963295 100963295 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:100963295G>A ENST00000193391.7 - 13 2067 c.1880C>T c.(1879-1881)cCa>cTa p.P627L NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 627 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CTTGGACAGTGGTTCAGCGCT 0.438000 69 72 0 0 0.014410 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161017842 161017842 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:161017842C>T ENST00000368013.3 - 12 3289 c.2969G>A c.(2968-2970)aGg>aAg p.R990K ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R779K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R813K NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 990 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACCCCCATTCCTCCAAGAGGA 0.597000 99 148 0 0 0.014410 0 0 KLK14 43847 broad.mit.edu 37 19 51582952 51582952 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51582952G>A ENST00000391802.1 - 5 486 c.268C>T c.(268-270)Cag>Tag p.Q90* KLK14_ENST00000156499.2_Nonsense_Mutation_p.Q90* NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 90 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) AGGGCAACCTGAAGGATCCTG 0.662000 3 9 0 0 0.004672 0 0 GADL1 339896 broad.mit.edu 37 3 30885920 30885920 + Silent SNP C C T rs148964604 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:30885920C>T ENST00000454381.3 - 7 736 c.690G>A c.(688-690)ggG>ggA p.G230G GADL1_ENST00000282538.5_Silent_p.G230G Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 230 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) CAGTGCCAATCCCAAGAAAAG 0.433000 99 131 0 0 0.014410 0 0 ASIC5 51802 broad.mit.edu 37 4 156773440 156773440 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:156773440C>T ENST00000537611.2 - 4 660 c.614G>A c.(613-615)gGa>gAa p.G205E NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 205 integral to membrane|plasma membrane AAAACAATTTCCATATTCAGT 0.343000 6 35 0 0 0.001168 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818882 159818882 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:159818882G>A ENST00000497452.1 - 0 517 gggagaaaacggagaagagtt 0.458000 170 738 0 0 0.014410 0 0 SP140L 93349 broad.mit.edu 37 2 231256845 231256845 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:231256845C>T ENST00000243810.6 + 12 1008 c.1008C>T c.(1006-1008)ttC>ttT p.F336F SP140L_ENST00000415673.2_Silent_p.F336F|SP140L_ENST00000396563.4_Silent_p.F301F|SP140L_ENST00000444636.1_Silent_p.F336F Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 336 SAND. nucleus DNA binding|metal ion binding p.F336F(2) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GAAAATGGTTCACCCCCATGG 0.527000 27 63 0 0 0.004656 0 0 ZNF831 128611 broad.mit.edu 37 20 57829536 57829536 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:57829536C>T ENST00000371030.2 + 5 4772 c.4772C>T c.(4771-4773)cCt>cTt p.P1591L NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1591 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) ACGTTTTTTCCTTCCAGAGGC 0.478000 29 81 0 0 0.007291 0 0 NSUN7 79730 broad.mit.edu 37 4 40776902 40776902 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:40776902C>T ENST00000381782.2 + 6 1255 c.760C>T c.(760-762)Cca>Tca p.P254S NSUN7_ENST00000316607.5_Missense_Mutation_p.P254S|NSUN7_ENST00000463952.1_3'UTR NM_024677.4 NP_078953.3 NOP2/Sun domain family, member 7 NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 CTTAATTTTTCCATCTCATCT 0.264000 23 49 0 0 0.012319 0 0 OR4C3 256144 broad.mit.edu 37 11 48346802 48346802 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:48346802C>T ENST00000319856.4 + 1 331 c.310C>T c.(310-312)Cct>Tct p.P104S NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TTCTATGGCTCCTAAACTCAT 0.463000 46 190 0 0 0.014410 0 0 ATP2B2 491 broad.mit.edu 37 3 10491134 10491134 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:10491134G>A ENST00000397077.1 - 4 669 c.94C>T c.(94-96)Cgc>Tgc p.R32C ATP2B2_ENST00000360273.2_Missense_Mutation_p.R32C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R32C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R32C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R32C Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 32 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 ATGAGGGAGCGGAGCTCCTCC 0.557000 72 100 0 0 0.014410 0 0 ACSBG1 23205 broad.mit.edu 37 15 78526761 78526761 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:78526761C>T ENST00000258873.4 - 1 288 c.83G>A c.(82-84)aGc>aAc p.S28N ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 28 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GTCCTGCCGGCTCTCCTGTGG 0.567000 161 356 0 0 0.014410 0 0 C14orf37 145407 broad.mit.edu 37 14 58605247 58605247 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:58605247G>A ENST00000267485.7 - 2 1024 c.830C>T c.(829-831)tCc>tTc p.S277F C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 277 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 GGTGTACTCGGAAGTTTCGAG 0.557000 61 86 0 0 0.014410 0 0 COL10A1 1300 broad.mit.edu 37 6 116442864 116442864 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:116442864C>T ENST00000327673.4 - 2 822 c.415G>A c.(415-417)Ggc>Agc p.G139S AL121963.1_ENST00000430695.1_Missense_Mutation_p.P82L|COL10A1_ENST00000243222.4_Missense_Mutation_p.G139S|NT5DC1_ENST00000319550.4_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 139 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) CCTGGTGGGCCCCGGGGTCCT 0.607000 19 25 0 0 0.007413 0 0 OR51G1 79324 broad.mit.edu 37 11 4944799 4944799 + Missense_Mutation SNP C C T rs139551574 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4944799C>T ENST00000321961.2 - 1 838 c.771G>A c.(769-771)atG>atA p.M257I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAAGCCAATCATGGGGATGT 0.532000 30 49 0 0 0.007291 0 0 SHANK1 50944 broad.mit.edu 37 19 51165511 51165511 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51165511C>T ENST00000293441.1 - 23 6215 c.6197G>A c.(6196-6198)gGg>gAg p.G2066E SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2074E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1453E|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2057E NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2066 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) CAAGGCTCCCCCGAGCCCCCC 0.687000 16 25 0 0 0.004990 0 0 MED12L 116931 broad.mit.edu 37 3 150881731 150881731 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:150881731G>A ENST00000474524.1 + 8 1197 c.1159G>A c.(1159-1161)Gaa>Aaa p.E387K MED12L_ENST00000422248.2_Missense_Mutation_p.E387K|MED12L_ENST00000309237.4_Missense_Mutation_p.E387K|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 387 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) TTCCACAAATGAAAATAAGAG 0.517000 25 86 0 0 0.003330 0 0 KRT75 9119 broad.mit.edu 37 12 52827812 52827812 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52827812C>T ENST00000252245.5 - 1 497 c.277G>A c.(277-279)Gga>Aga p.G93R NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 93 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CTGTTGACTCCAAACCTGTTG 0.617000 48 125 0 0 0.014410 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740201 37740201 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:37740201C>T ENST00000539465.1 + 15 2269 c.1676C>T c.(1675-1677)cCt>cTt p.P559L FRMPD1_ENST00000536622.1_Missense_Mutation_p.P381L|FRMPD1_ENST00000377765.3_Missense_Mutation_p.P559L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P428L Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 559 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GAGGAGCAGCCTCCTGGGAAC 0.632000 37 115 0 0 0.004878 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776622 159776622 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:159776622G>A ENST00000393975.3 - 3 549 c.546C>T c.(544-546)ctC>ctT p.L182L NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 137 C1q. 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) AGGGGCCTGGGAGGCCTGGCT 0.662000 111 173 0 0 0.014410 0 0 HAUS4 54930 broad.mit.edu 37 14 23417130 23417130 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23417130G>A ENST00000206474.7 - 7 907 c.655C>T c.(655-657)Cag>Tag p.Q219* HAUS4_ENST00000555367.1_Nonsense_Mutation_p.Q174*|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.P48L|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_Nonsense_Mutation_p.Q174*|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_Nonsense_Mutation_p.Q95*|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000555986.1_Nonsense_Mutation_p.Q174*|HAUS4_ENST00000554446.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Nonsense_Mutation_p.Q219* Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 219 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 TCCTTCTGCTGGCTCTTGGCA 0.557000 36 79 0 0 0.003271 0 0 TMEM237 65062 broad.mit.edu 37 2 202492842 202492842 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:202492842G>A ENST00000409444.2 - 10 1193 c.876C>T c.(874-876)atC>atT p.I292I TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409883.2_Silent_p.I300I NM_152388.3 NP_689601.2 Q96Q45 TM237_HUMAN transmembrane protein 237 324 integral to membrane protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3) 7 AAAAATTTCGGATTGCTACTG 0.323000 10 24 0 0 0.010729 0 0 POU1F1 5449 broad.mit.edu 37 3 87313549 87313549 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:87313549C>T ENST00000350375.2 - 3 452 c.328G>A c.(328-330)Gaa>Aaa p.E110K POU1F1_ENST00000560656.1_Missense_Mutation_p.E110K|POU1F1_ENST00000344265.3_Missense_Mutation_p.E136K NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 110 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) CGCCTGAGTTCCTGCTTGAAA 0.433000 58 80 0 0 0.014410 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891409 148891409 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:148891409C>T ENST00000261798.5 - 6 1055 c.623G>A c.(622-624)gGa>gAa p.G208E CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E|CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 208 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CAAAACATATCCTAATGATTC 0.333000 5 92 0 0 0.001168 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692313 31692313 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:31692313C>T ENST00000360542.3 - 1 294 c.41G>A c.(40-42)gGa>gAa p.G14E NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 14 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TCTGAGAGATCCTGAGTTGGA 0.517000 6 24 0 0 0.001168 0 0 CYTIP 9595 broad.mit.edu 37 2 158272595 158272595 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:158272595C>T ENST00000264192.3 - 8 795 c.674G>A c.(673-675)gGa>gAa p.G225E CYTIP_ENST00000540637.1_Missense_Mutation_p.G119E NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 225 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 AGGCAGGGGTCCAAACAAAGA 0.498000 16 54 0 0 0.006122 0 0 SAGE1 55511 broad.mit.edu 37 X 134991026 134991026 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:134991026C>A ENST00000535938.1 + 13 1612 c.1445C>A c.(1444-1446)gCt>gAt p.A482D SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.A482D|SAGE1_ENST00000324447.3_Missense_Mutation_p.A482D NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 482 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TTTCCAGATGCTACCATTACT 0.433000 37 59 1.96642e-18 2.01042e-18 0.006999 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57872935 57872935 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57872935C>T ENST00000393797.2 - 5 660 c.468G>A c.(466-468)gaG>gaA p.E156E ARHGAP9_ENST00000550288.1_Silent_p.E164E|ARHGAP9_ENST00000424809.2_Silent_p.E85E|ARHGAP9_ENST00000356411.2_Silent_p.E85E|ARHGAP9_ENST00000393791.3_Silent_p.E85E Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 85 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGATGGATTCCTCTATCATAT 0.557000 73 176 0 0 0.014410 0 0 DIP2A 23181 broad.mit.edu 37 21 47918537 47918537 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47918537C>T ENST00000318711.7 + 5 629 c.446C>T c.(445-447)cCc>cTc p.P149L DIP2A_ENST00000427143.2_Missense_Mutation_p.P85L|DIP2A_ENST00000466639.1_Missense_Mutation_p.P149L|DIP2A_ENST00000417564.2_Missense_Mutation_p.P149L|DIP2A_ENST00000400274.1_Missense_Mutation_p.P149L|DIP2A_ENST00000457905.3_Missense_Mutation_p.P149L|DIP2A_ENST00000435722.3_Missense_Mutation_p.P149L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 149 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TTACGGCGACCCGGGCGACTC 0.587000 100 258 0 0 0.014410 0 0 TNIK 23043 broad.mit.edu 37 3 170912325 170912325 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:170912325C>T ENST00000436636.2 - 5 750 c.406G>A c.(406-408)Gaa>Aaa p.E136K TNIK_ENST00000470834.1_Missense_Mutation_p.E136K|TNIK_ENST00000369326.5_Missense_Mutation_p.E136K|TNIK_ENST00000341852.6_Missense_Mutation_p.E136K|TNIK_ENST00000488470.1_Missense_Mutation_p.E136K|TNIK_ENST00000357327.5_Missense_Mutation_p.E136K|TNIK_ENST00000284483.8_Missense_Mutation_p.E136K|TNIK_ENST00000475336.1_Missense_Mutation_p.E136K|TNIK_ENST00000538048.1_Missense_Mutation_p.E136K|TNIK_ENST00000460047.1_Missense_Mutation_p.E136K NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 136 Protein kinase. 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) CGTAAGATTTCCCTGCAGATG 0.458000 47 188 0 0 0.014410 0 0 TF 7018 broad.mit.edu 37 3 133467361 133467361 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:133467361C>T ENST00000402696.3 + 2 634 c.149C>T c.(148-150)cCa>cTa p.P50L TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 50 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AGCGTCATTCCATCCGATGGT 0.512000 30 105 0 0 0.008361 0 0 BRINP2 57795 broad.mit.edu 37 1 177249876 177249876 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:177249876G>A ENST00000361539.4 + 8 1876 c.1564G>A c.(1564-1566)Gat>Aat p.D522N FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 522 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 GCAGAAGCAGGATAGCCGCAT 0.577000 34 56 0 0 0.010818 0 0 GPSM1 26086 broad.mit.edu 37 9 139252507 139252507 + Silent SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:139252507A>G ENST00000440944.1 + 14 2083 c.1863A>G c.(1861-1863)gtA>gtG p.V621V GPSM1_ENST00000429455.1_Silent_p.V112V|GPSM1_ENST00000392944.1_Silent_p.V112V NM_001145638.1 NP_001139110.1 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 621 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) CACCTGACGTACTGCCCCGGG 0.687000 28 82 0 0 0.012213 0 0 ANK2 287 broad.mit.edu 37 4 114274809 114274809 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:114274809G>A ENST00000357077.4 + 38 5088 c.5035G>A c.(5035-5037)Ggg>Agg p.G1679R ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1646R|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1646 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) TGAAAAGGAAGGGAAAGACAT 0.463000 7 54 0 0 0.001984 0 0 CATSPER1 117144 broad.mit.edu 37 11 65792909 65792909 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65792909G>A ENST00000312106.5 - 1 1079 c.942C>T c.(940-942)ctC>ctT p.L314L NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 314 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 AGTCGCCATGGAGGTAACTGG 0.597000 22 35 0 0 0.003330 0 0 OR1L8 138881 broad.mit.edu 37 9 125330095 125330095 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:125330095C>T ENST00000304865.2 - 1 743 c.662G>A c.(661-663)cGa>cAa p.R221Q NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGTGAGGATTCGTATATAAGA 0.428000 8 34 0 0 0.004482 0 0 SBK1 388228 broad.mit.edu 37 16 28331843 28331843 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:28331843C>T ENST00000341901.4 + 4 1665 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 292 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 TGCGCATGTTCCAGCGCTTAC 0.726000 5 15 0 0 0.000602 0 0 MYH7 4625 broad.mit.edu 37 14 23896073 23896073 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23896073C>T ENST00000355349.3 - 18 2119 c.1956_splice c.e18-1 p.E653_splice NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 653 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TTCAGATTTTCCTGTGGCCAA 0.438000 25 72 0 0 0.003330 0 0 NCF2 4688 broad.mit.edu 37 1 183546757 183546757 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:183546757G>A ENST00000413720.1 - 3 617 c.343C>T c.(343-345)Cag>Tag p.Q115* NCF2_ENST00000418089.1_Nonsense_Mutation_p.Q115*|NCF2_ENST00000367536.1_Nonsense_Mutation_p.Q115*|NCF2_ENST00000367535.3_Nonsense_Mutation_p.Q115* NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 115 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 AGCTTGAACTGGAGCCCCAGG 0.517000 61 179 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179452410 179452410 + Missense_Mutation SNP C C T rs148684589 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179452410C>T ENST00000589042.1 - 306 63850 c.63626G>A c.(63625-63627)cGa>cAa p.R21209Q TTN_ENST00000591111.1_Missense_Mutation_p.R19568Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12144Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12269Q|TTN_ENST00000342992.6_Missense_Mutation_p.R18641Q|TTN_ENST00000342175.6_Missense_Mutation_p.R12336Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19568 Fibronectin type-III 54. 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) GCCAACTTTTCGCCAAGTGAC 0.478000 13 22 0 0 0.013537 0 0 NEURL4 84461 broad.mit.edu 37 17 7221234 7221234 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:7221234G>A ENST00000399464.2 - 26 4093 c.4078C>T c.(4078-4080)Ccg>Tcg p.P1360S NEURL4_ENST00000570460.1_Missense_Mutation_p.P1336S|RP11-542C16.2_ENST00000575474.1_Silent_p.L173L|NEURL4_ENST00000315614.7_Missense_Mutation_p.P1358S|NEURL4_ENST00000574120.1_5'UTR NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 p.P1358S(1)|p.P1360S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CGCTTTGGCGGAGGCATGAAA 0.612000 40 64 0 0 0.010771 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798390 185798390 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:185798390G>A ENST00000302277.6 + 3 910 c.316G>A c.(316-318)Gat>Aat p.D106N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 106 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 ATCCAGGAAAGATGAAAGAAA 0.373000 12 36 0 0 0.001855 0 0 SUCNR1 56670 broad.mit.edu 37 3 151599328 151599328 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:151599328G>A ENST00000362032.4 + 3 1102 c.997G>A c.(997-999)Gaa>Aaa p.E333K RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 333 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) TTCATTCAGAGAAAAGTGAGG 0.413000 33 55 0 0 0.004289 0 0 FAM3B 54097 broad.mit.edu 37 21 42694869 42694869 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:42694869C>T ENST00000398652.3 + 3 222 c.156C>T c.(154-156)ttC>ttT p.F52F FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398646.3_Silent_p.F36F|FAM3B_ENST00000357985.2_Silent_p.F13F|FAM3B_ENST00000479810.2_3'UTR P58499 FAM3B_HUMAN family with sequence similarity 3, member B 13 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) AGGTGGTGTTCGTGGTCTTCG 0.627000 35 113 0 0 0.005524 0 0 IKBKE 9641 broad.mit.edu 37 1 206648315 206648315 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:206648315C>T ENST00000367120.3 + 5 709 c.336C>T c.(334-336)ttC>ttT p.F112F IKBKE_ENST00000537984.1_Silent_p.F27F|IKBKE_ENST00000462698.1_Intron NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 112 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) AGGATGAGTTCCTGGTGGTGC 0.632000 37 92 0 0 0.013114 0 0 PREX2 80243 broad.mit.edu 37 8 68981328 68981328 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:68981328G>A ENST00000288368.4 + 12 1677 c.1400G>A c.(1399-1401)gGa>gAa p.G467E PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 467 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TATGATGATGGAACATTTTAT 0.338000 10 38 0 0 0.006214 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722784 58722784 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:58722784G>A ENST00000300079.5 + 6 592 c.542G>A c.(541-543)gGa>gAa p.G181E RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.G150E NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 150 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AGCAAGCTTGGAAGCTGGGCT 0.408000 36 48 0 0 0.013726 0 0 COL6A2 1292 broad.mit.edu 37 21 47542846 47542846 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47542846G>A ENST00000300527.4 + 21 1770 c.1666G>A c.(1666-1668)Gag>Aag p.E556K COL6A2_ENST00000397763.1_Missense_Mutation_p.E556K|COL6A2_ENST00000310645.5_Missense_Mutation_p.E556K|COL6A2_ENST00000409416.1_Missense_Mutation_p.E556K|COL6A2_ENST00000357838.4_Missense_Mutation_p.E556K NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 556 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGAGAAAGGAGAGCCTGTGAG 0.602000 30 86 0 0 0.012213 0 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078102 90078102 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:90078102C>T ENST00000390270.2 + 0 236 CGGGGCCAGTCAGAGTGTTAG 0.582000 44 40 0 0 0.008740 0 0 FMO1 2326 broad.mit.edu 37 1 171251360 171251360 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:171251360C>T ENST00000354841.4 + 6 1202 c.1071C>T c.(1069-1071)ttC>ttT p.F357F FMO1_ENST00000402921.2_Silent_p.F294F|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.F357F Q01740 FMO1_HUMAN flavin containing monooxygenase 1 357 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTATATCTTCCCTGCACATC 0.483000 47 75 0 0 0.014410 0 0 GEMIN5 25929 broad.mit.edu 37 5 154270981 154270981 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:154270981G>A ENST00000285873.7 - 26 4157 c.4082C>T c.(4081-4083)tCa>tTa p.S1361L NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1361 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) ATGCTTTTCTGAAAAGAGCTC 0.458000 61 92 0 0 0.014410 0 0 VWF 7450 broad.mit.edu 37 12 6204750 6204750 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:6204750C>T ENST00000261405.5 - 6 787 c.532_splice c.e6-1 p.G178_splice VWF_ENST00000572068.1_Splice_Site_p.G215_splice NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 178 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGTCAAGGTCCCTGTGGAGGA 0.498000 41 160 0 0 0.009718 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22864315 22864315 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:22864315T>C ENST00000283645.4 + 16 2403 c.2273T>C c.(2272-2274)cTt>cCt p.L758P TUBGCP5_ENST00000453949.2_Missense_Mutation_p.L758P NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 758 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GTGTCTTTTCTTAATGTCCAA 0.348000 47 109 0 0 0.011902 0 0 ARL13A 392509 broad.mit.edu 37 X 100240691 100240691 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:100240691G>A ENST00000450049.2 + 4 279 c.166G>A c.(166-168)Gaa>Aaa p.E56K NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 56 GTP binding endometrium(1)|ovary(1) 2 CATGAAATCGGAACTGACTAC 0.448000 29 48 0 0 0.013726 0 0 BAI3 577 broad.mit.edu 37 6 69666069 69666069 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:69666069C>T ENST00000370598.1 + 7 2170 c.1349C>T c.(1348-1350)cCt>cTt p.P450L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 450 TSP type-1 3. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGCTATAACCCTGAATGTACA 0.517000 5 8 0 0 0.001984 0 0 OR52D1 390066 broad.mit.edu 37 11 5510839 5510839 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5510839G>A ENST00000322641.5 + 1 925 c.903G>A c.(901-903)aaG>aaA p.K301K HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAGAACCAAGGAGATTCGGA 0.453000 11 40 0 0 0.008291 0 0 ABCA7 10347 broad.mit.edu 37 19 1055172 1055172 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:1055172C>T ENST00000263094.6 + 30 4258 c.4027C>T c.(4027-4029)Cca>Tca p.P1343S ABCA7_ENST00000435683.2_Missense_Mutation_p.P1205S|ABCA7_ENST00000433129.1_Missense_Mutation_p.P1343S NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1343 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 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) GTCTCCATCCCCAGCCTGCCA 0.682000 7 28 0 0 0.001984 0 0 TENM1 10178 broad.mit.edu 37 X 123838900 123838900 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:123838900G>A ENST00000422452.2 - 5 1041 c.978C>T c.(976-978)atC>atT p.I326I TENM1_ENST00000371130.3_Silent_p.I326I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AAGTCACTGTGATTGCAGTGG 0.463000 51 75 0 0 0.014410 0 0 PCSK5 5125 broad.mit.edu 37 9 78804056 78804056 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:78804056G>A ENST00000545128.1 + 19 2965 c.2427G>A c.(2425-2427)atG>atA p.M809I PCSK5_ENST00000376752.4_Missense_Mutation_p.M809I NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 809 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCTACTTCATGGAGGATGGGA 0.468000 14 62 0 0 0.001855 0 0 LMOD1 25802 broad.mit.edu 37 1 201869499 201869499 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:201869499C>T ENST00000367288.4 - 2 888 c.642G>A c.(640-642)gtG>gtA p.V214V NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 214 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 ctttcttggccacctccttca 0.502000 6 14 0 0 0.001168 0 0 FAM196A 642938 broad.mit.edu 37 10 128973813 128973813 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:128973813G>T ENST00000522781.1 - 4 1402 c.847C>A c.(847-849)Ccg>Acg p.P283T FAM196A_ENST00000424811.2_Missense_Mutation_p.P283T|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 283 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TCATCTGCCGGGCAGAGTGAC 0.657000 28 30 7.38237e-10 7.51615e-10 0.006320 1 0 TTN 7273 broad.mit.edu 37 2 179611800 179611800 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179611800G>A ENST00000360870.5 - 46 15549 c.15327C>T c.(15325-15327)ccC>ccT p.P5109P TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1217 Ig-like 31. 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) CCTCCCCTGGGGGTGTGGAAT 0.493000 20 54 0 0 0.012319 0 0 RGS22 26166 broad.mit.edu 37 8 100975140 100975140 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:100975140C>T ENST00000360863.6 - 25 3876 c.3682G>A c.(3682-3684)Gaa>Aaa p.E1228K RGS22_ENST00000523437.1_Missense_Mutation_p.E1216K|RGS22_ENST00000523287.1_Missense_Mutation_p.E1047K NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1228 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TCTAGTTCTTCTTGGATCTTA 0.313000 11 21 0 0 0.008291 0 0 CRYBB2 1415 broad.mit.edu 37 22 25620957 25620957 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:25620957G>A ENST00000398215.2 + 3 298 c.127G>A c.(127-129)Gaa>Aaa p.E43K NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 43 Beta/gamma crystallin 'Greek key' 1. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 CAACCTGAAGGAAACTGGCGT 0.552000 37 114 0 0 0.003755 0 0 MOSPD3 64598 broad.mit.edu 37 7 100212785 100212785 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100212785C>T ENST00000393950.2 + 5 969 c.687C>T c.(685-687)acC>acT p.T229T MOSPD3_ENST00000379527.2_Silent_p.T229T|MOSPD3_ENST00000424091.2_Silent_p.T219T|MOSPD3_ENST00000223054.4_Silent_p.T229T NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 229 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCCTCCTCACCATGGTGTTCC 0.622000 31 97 0 0 0.012213 0 0 TMIGD2 126259 broad.mit.edu 37 19 4294678 4294678 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:4294678C>T ENST00000301272.2 - 4 494 c.e4-1 TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Splice_Site|TMIGD2_ENST00000595645.1_Splice_Site NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AAGAGGAATCCTGGGTAGGGG 0.642000 141 290 0 0 0.014410 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801645 133801645 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:133801645C>T ENST00000321016.8 - 9 1386 c.1156G>A c.(1156-1158)Gag>Aag p.E386K IGSF9B_ENST00000533871.2_Missense_Mutation_p.E386K Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 386 Ig-like 4. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCTGTGGCCTCCTCAATTCGA 0.587000 12 22 0 0 0.010729 0 0 SCAND3 114821 broad.mit.edu 37 6 28540518 28540518 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:28540518G>A ENST00000452236.2 - 4 3765 c.3148C>T c.(3148-3150)Cat>Tat p.H1050Y NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1050 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 agttgcttatgatcagcttcc 0.303000 18 70 0 0 0.012319 0 0 CEP128 145508 broad.mit.edu 37 14 81366325 81366325 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:81366325G>A ENST00000555265.1 - 7 904 c.529C>T c.(529-531)Cgc>Tgc p.R177C CEP128_ENST00000216517.6_Missense_Mutation_p.R177C|CEP128_ENST00000327841.2_Missense_Mutation_p.R117C|CEP128_ENST00000281129.3_Missense_Mutation_p.R177C Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 177 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTCCAAGGCGAATTTGTTCA 0.408000 50 162 0 0 0.014410 0 0 KIF2B 84643 broad.mit.edu 37 17 51902109 51902109 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:51902109C>T ENST00000268919.4 + 1 1871 c.1715C>T c.(1714-1716)tCa>tTa p.S572L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 572 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATCGGAAATTCAGAAATGTCC 0.388000 55 125 0 0 0.014410 0 0 NDN 4692 broad.mit.edu 37 15 23932165 23932165 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:23932165G>A ENST00000331837.4 - 1 285 c.200C>T c.(199-201)cCg>cTg p.P67L NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 67 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CAGGGCCTTCGGGTCGCCCTC 0.806000 Prader-Willi syndrome 3 6 0 0 0.009096 0 0 PTGS1 5742 broad.mit.edu 37 9 125152509 125152509 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:125152509C>T ENST00000362012.2 + 10 1334 c.1329C>T c.(1327-1329)atC>atT p.I443I PTGS1_ENST00000373698.5_Silent_p.I334I|PTGS1_ENST00000540753.1_Silent_p.I381I|PTGS1_ENST00000223423.4_Silent_p.I406I NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 443 I -> V (in dbSNP:rs5792). cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) ACCACCACATCCTGCATGTGG 0.592000 25 43 0 0 0.003954 0 0 C7 730 broad.mit.edu 37 5 40964859 40964859 + Missense_Mutation SNP T T A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:40964859T>A ENST00000313164.9 + 14 2125 c.1766T>A c.(1765-1767)tTt>tAt p.F589Y NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 589 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GGTACAATGTTTCCTGTGGGG 0.368000 17 50 0 0 0.004990 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883843 228883843 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:228883843C>T ENST00000392056.3 - 7 1773 c.1727G>A c.(1726-1728)aGa>aAa p.R576K SPHKAP_ENST00000344657.5_Missense_Mutation_p.R576K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 576 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) CACCTCTTCTCTTTCACCCAG 0.552000 46 125 0 0 0.014410 0 0 GRM6 2916 broad.mit.edu 37 5 178413174 178413174 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:178413174G>A ENST00000231188.5 - 8 2259 c.2081C>T c.(2080-2082)cCc>cTc p.P694L RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P694L NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 694 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) CTGTGAGGTGGGGCTGATGAA 0.627000 14 21 0 0 0.004990 0 0 COL5A2 1290 broad.mit.edu 37 2 189932971 189932971 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:189932971G>A ENST00000374866.3 - 20 1557 c.1283C>T c.(1282-1284)cCt>cTt p.P428L NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 428 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTTGGCACCAGGAGTACCATC 0.408000 35 71 0 0 0.006230 0 0 OR2M4 26245 broad.mit.edu 37 1 248402872 248402872 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:248402872C>T ENST00000306687.1 + 1 642 c.642C>T c.(640-642)atC>atT p.I214I NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I214I(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 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) TTTCAGTTATCATACTTTCCT 0.473000 33 63 0 0 0.010818 0 0 GRAP2 9402 broad.mit.edu 37 22 40362074 40362074 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:40362074C>T ENST00000344138.4 + 5 634 c.371C>T c.(370-372)tCc>tTc p.S124F GRAP2_ENST00000543252.1_Missense_Mutation_p.S84F|GRAP2_ENST00000540310.1_Missense_Mutation_p.S58F|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000544756.1_Missense_Mutation_p.S52F|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.S124F NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 124 SH2. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 AAGTTTCCATCCCTAAATAAG 0.453000 71 117 0 0 0.014410 0 0 OR1I1 126370 broad.mit.edu 37 19 15198369 15198369 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15198369C>T ENST00000209540.2 + 1 579 c.493C>T c.(493-495)Caa>Taa p.Q165* NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 CCTCATGGCTCAACTGACCTT 0.562000 39 129 0 0 0.009718 0 0 DSP 1832 broad.mit.edu 37 6 7581158 7581158 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:7581158C>T ENST00000379802.3 + 23 5076 c.4735C>T c.(4735-4737)Cgg>Tgg p.R1579W DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1579 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGAGCTGAATCGGCTGAAGAG 0.542000 26 71 0 0 0.003954 0 0 NBEAL2 23218 broad.mit.edu 37 3 47037254 47037254 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:47037254G>A ENST00000450053.3 + 14 2128 c.1949G>A c.(1948-1950)gGg>gAg p.G650E NBEAL2_ENST00000292309.5_Missense_Mutation_p.G650E|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 650 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ACGGCGGCCGGGACCCTGGTG 0.592000 40 50 0 0 0.006230 0 0 ELTD1 64123 broad.mit.edu 37 1 79403621 79403621 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:79403621C>T ENST00000370742.3 - 6 694 c.631G>A c.(631-633)Gac>Aac p.D211N NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 211 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GATAACTTGTCCCAAACTACA 0.343000 24 121 0 0 0.014323 0 0 IGLV2-8 28817 broad.mit.edu 37 22 23165656 23165656 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:23165656C>T ENST00000390317.2 + 0 389 AGTAAGCGGCCCTCAGGGGTC 0.557000 281 461 0 0 0.014410 0 0 CKAP2L 150468 broad.mit.edu 37 2 113509901 113509901 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:113509901G>A ENST00000541405.1 - 5 1573 c.1050C>T c.(1048-1050)ctC>ctT p.L350L CKAP2L_ENST00000302450.6_Silent_p.L515L Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 515 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 TGGACAGTTCGAGTTGTGCTT 0.373000 61 180 0 0 0.014410 0 0 ABCA13 154664 broad.mit.edu 37 7 48318429 48318429 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:48318429C>T ENST00000435803.1 + 18 7662 c.7638C>T c.(7636-7638)tcC>tcT p.S2546S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2546 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 ATTTTATCTCCAATACCAAGG 0.353000 29 168 0 0 0.008361 0 0 ASAP2 8853 broad.mit.edu 37 2 9463340 9463340 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:9463340G>T ENST00000281419.3 + 6 901 c.561G>T c.(559-561)atG>atT p.M187I ASAP2_ENST00000315273.4_Missense_Mutation_p.M187I NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 187 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CCGAAGAGATGGAAAAGGAGA 0.537000 78 190 6.11987e-43 6.28116e-43 0.014410 1 0 OR51F2 119694 broad.mit.edu 37 11 4842710 4842710 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:4842710C>T ENST00000322110.5 + 1 160 c.95C>T c.(94-96)cCa>cTa p.P32L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P32Q(2) breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGGCATTCCAGGCCTGAAA 0.473000 47 235 0 0 0.013114 0 0 SEMA3F 6405 broad.mit.edu 37 3 50220954 50220954 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:50220954G>A ENST00000002829.3 + 12 1674 c.1190G>A c.(1189-1191)tGg>tAg p.W397* SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.W366*|SEMA3F_ENST00000413852.1_Nonsense_Mutation_p.W298* NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 397 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) AACTACCAGTGGATGCCCTTC 0.592000 29 117 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179647089 179647089 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179647089C>T ENST00000589042.1 - 20 3454 c.3230G>A c.(3229-3231)gGa>gAa p.G1077E TTN_ENST00000591111.1_Missense_Mutation_p.G1077E|TTN_ENST00000460472.2_Missense_Mutation_p.G1031E|TTN_ENST00000360870.5_Missense_Mutation_p.G1077E|TTN_ENST00000359218.5_Missense_Mutation_p.G1031E|TTN_ENST00000342992.6_Missense_Mutation_p.G1077E|TTN_ENST00000342175.6_Missense_Mutation_p.G1031E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1077 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) GGCAGGTTCTCCAGGCCCTGC 0.507000 25 61 0 0 0.005443 0 0 KLF12 11278 broad.mit.edu 37 13 74569125 74569125 + Splice_Site SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:74569125A>G ENST00000377669.2 - 1 60 c.e1+1 KLF12_ENST00000472022.1_Splice_Site|KLF12_ENST00000377666.4_Splice_Site NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 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) TGACTAACCAACCTTTATTGT 0.323000 11 31 0 0 0.008291 0 0 HBB 3043 broad.mit.edu 37 11 5248179 5248179 + Missense_Mutation SNP C C T rs33972975 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:5248179C>T ENST00000335295.3 - 1 248 c.73G>A c.(73-75)Ggt>Agt p.G25S NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 25 G -> D (in Moscva; O(2) affinity down; unstable).|G -> R (in Riverdale-Bronx; O(2) affinity up; unstable).|G -> V (in Savannah; unstable). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) GCCTCACCACCAACTTCATCC 0.512000 Sickle Cell Trait 18 43 0 0 0.012319 0 0 CTNND2 1501 broad.mit.edu 37 5 10992789 10992789 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:10992789C>T ENST00000304623.8 - 19 3274 c.3084_splice c.e19-1 p.D1029_splice CTNND2_ENST00000458100.2_Splice_Site_p.D596_splice|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.D692_splice|CTNND2_ENST00000359640.2_Splice_Site_p.D971_splice|CTNND2_ENST00000511377.1_Splice_Site_p.D938_splice NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1029 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 GACCATCCATCCTGCAAAACA 0.498000 49 192 0 0 0.014410 0 0 ADAM19 8728 broad.mit.edu 37 5 156915375 156915375 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:156915375C>T ENST00000257527.4 - 21 2526 c.2448G>A c.(2446-2448)agG>agA p.R816R ADAM19_ENST00000517905.1_Silent_p.R816R|ADAM19_ENST00000394020.1_Silent_p.R818R|ADAM19_ENST00000430702.2_Silent_p.R549R NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 816 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) CTGGGGAGTTCCTAGCAGCCC 0.652000 59 80 0 0 0.014410 0 0 IARS 3376 broad.mit.edu 37 9 95021262 95021262 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:95021262G>A ENST00000375643.3 - 19 2156 c.1890C>T c.(1888-1890)tcC>tcT p.S630S IARS_ENST00000447699.2_Silent_p.S520S|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.S630S NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 630 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) TCACCACAGGGGAGTTAATCA 0.423000 17 39 0 0 0.006122 0 0 FCAMR 83953 broad.mit.edu 37 1 207131965 207131965 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:207131965G>T ENST00000324852.4 - 8 2104 c.1630C>A c.(1630-1632)Ccc>Acc p.P544T FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000450945.2_3'UTR NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 499 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 TCTGCTTGGGGGTTCACTTCC 0.542000 26 125 3.73148e-12 3.80588e-12 0.007291 1 0 STAM2 10254 broad.mit.edu 37 2 153003815 153003815 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:153003815G>A ENST00000263904.4 - 5 657 c.308C>T c.(307-309)cCt>cTt p.P103L STAM2_ENST00000465460.1_5'UTR NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 103 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 protein binding endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) ACATACTTTAGGATGTGCCTT 0.308000 26 74 0 0 0.007291 0 0 ZNF81 347344 broad.mit.edu 37 X 47775871 47775871 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:47775871C>T ENST00000376954.1 + 6 2194 c.1826C>T c.(1825-1827)cCa>cTa p.P609L ZNF81_ENST00000338637.7_Missense_Mutation_p.P609L P51508 ZNF81_HUMAN zinc finger protein 81 609 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) GGGGAGAAACCATATATATGT 0.388000 13 24 0 0 0.013537 0 0 ABCA12 26154 broad.mit.edu 37 2 215875108 215875108 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:215875108C>T ENST00000272895.7 - 18 2638 c.2419G>A c.(2419-2421)Gga>Aga p.G807R ABCA12_ENST00000389661.4_Missense_Mutation_p.G489R NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 807 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) AAAATTCTTCCCAACAACATA 0.368000 14 65 0 0 0.001855 0 0 WDR72 256764 broad.mit.edu 37 15 53907716 53907716 + Missense_Mutation SNP C C T rs146417353 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:53907716C>T ENST00000396328.1 - 15 2926 c.2687G>A c.(2686-2688)cGa>cAa p.R896Q WDR72_ENST00000360509.5_Missense_Mutation_p.R896Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R893Q|WDR72_ENST00000559418.1_Missense_Mutation_p.R906Q NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 896 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) ATCTGACTCTCGCAAAGAATC 0.348000 7 18 0 0 0.003080 0 0 VRTN 55237 broad.mit.edu 37 14 74825220 74825220 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:74825220G>A ENST00000256362.4 + 2 1975 c.1734G>A c.(1732-1734)aaG>aaA p.K578K NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 578 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 AGCAGGAGAAGGAGGCTGGCA 0.637000 30 102 0 0 0.010818 0 0 LTBP1 4052 broad.mit.edu 37 2 33335750 33335750 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:33335750G>A ENST00000404816.2 + 4 1318 c.965G>A c.(964-966)gGa>gAa p.G322E LTBP1_ENST00000354476.3_Missense_Mutation_p.G322E Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 322 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) GGGATTTCAGGAGAGCAGTCC 0.488000 53 124 0 0 0.014410 0 0 HIPK2 28996 broad.mit.edu 37 7 139257822 139257822 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:139257822G>A ENST00000406875.3 - 15 3542 c.3448C>T c.(3448-3450)Ccc>Tcc p.P1150S HIPK2_ENST00000428878.2_Missense_Mutation_p.P1123S NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 1150 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) AGGACCCGGGGGCCCATGCTC 0.677000 13 36 0 0 0.013537 0 0 KCNJ5 3762 broad.mit.edu 37 11 128786570 128786570 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:128786570G>A ENST00000529694.1 + 3 1580 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K KCNJ5_ENST00000533599.1_Missense_Mutation_p.E402K|KCNJ5_ENST00000338350.4_Missense_Mutation_p.E402K NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 402 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) TGAGCAGAATGAAGAAGATGA 0.637000 19 27 0 0 0.006122 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166770 96166770 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:96166770C>T ENST00000315367.3 + 2 739 c.498C>T c.(496-498)ttC>ttT p.F166F PLEKHF2_ENST00000519516.1_Silent_p.F166F NM_024613.3 NP_078889.1 Q9H8W4 PKHF2_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 2 166 transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) AAGCAAAATTCACACCTGTTA 0.478000 37 165 0 0 0.004289 0 0 IGFN1 91156 broad.mit.edu 37 1 201185804 201185804 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:201185804C>T ENST00000335211.4 + 16 9648 c.9518C>T c.(9517-9519)aCc>aTc p.T3173I IGFN1_ENST00000295591.8_Missense_Mutation_p.T333I 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 AGGAAGTATACCTTCCGAGTG 0.642000 73 95 0 0 0.014410 0 0 SI 6476 broad.mit.edu 37 3 164716441 164716441 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:164716441C>T ENST00000264382.3 - 38 4489 c.4427G>A c.(4426-4428)gGa>gAa p.G1476E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1476 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) CCCTCTTTTTCCAGTTGTCTT 0.388000 HNSCC(35;0.089) 19 17 0 0 0.008871 0 0 DMP1 1758 broad.mit.edu 37 4 88583217 88583217 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:88583217G>A ENST00000339673.6 + 6 386 c.287G>A c.(286-288)gGa>gAa p.G96E DMP1_ENST00000282479.7_Missense_Mutation_p.G80E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 96 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGGAGCACAGGAAAAGGAGGA 0.502000 11 72 0 0 0.008291 0 0 PPBP 5473 broad.mit.edu 37 4 74853706 74853706 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:74853706C>T ENST00000296028.3 - 1 208 c.115G>A c.(115-117)Gga>Aga p.G39R NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 39 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2) 10 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) TTAGTTTGTCCTTTGGTGGAG 0.522000 37 60 0 0 0.005524 0 0 MYO15A 51168 broad.mit.edu 37 17 18077162 18077162 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:18077162C>T ENST00000205890.5 + 65 10756 c.10418C>T c.(10417-10419)tCc>tTc p.S3473F MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.S737F|RP11-258F1.1_ENST00000577847.1_RNA NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3473 FERM.|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) ACGGCCAACTCCAGCTACCCC 0.647000 48 54 0 0 0.014410 0 0 SLC27A3 11000 broad.mit.edu 37 1 153750725 153750725 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:153750725G>A ENST00000271857.2 + 5 2394 c.1634G>A c.(1633-1635)gGg>gAg p.G545E SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Missense_Mutation_p.G464E Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 464 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGGCGCTTCGGGCCCCTGCAG 0.637000 56 169 0 0 0.014410 0 0 NDST3 9348 broad.mit.edu 37 4 118975183 118975183 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:118975183G>A ENST00000296499.5 + 2 521 c.118G>A c.(118-120)Gaa>Aaa p.E40K NDST3_ENST00000433996.2_Missense_Mutation_p.E40K NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 40 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CTACAAACAGGAAAATGAACT 0.423000 11 54 0 0 0.008291 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834936 27834936 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:27834936C>T ENST00000331442.3 - 1 423 c.372G>A c.(370-372)aaG>aaA p.K124K NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 124 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CGCCTGCCTTCTTGGCTTTGG 0.597000 119 325 0 0 0.014410 0 0 B4GALT4 8702 broad.mit.edu 37 3 118935164 118935164 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:118935164G>A ENST00000467604.1 - 7 1216 c.825C>T c.(823-825)tcC>tcT p.S275S B4GALT4_ENST00000483209.1_Silent_p.S275S|B4GALT4_ENST00000359213.3_Silent_p.S275S|B4GALT4_ENST00000393765.2_Silent_p.S275S|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000471675.1_Intron O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 275 membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2) 14 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) GCAGGGGCCGGGAAATTTTCA 0.408000 21 112 0 0 0.012319 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920720 51920720 + Splice_Site SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:51920720C>T ENST00000353836.5 - 2 259 c.e2-1 SIGLEC10_ENST00000432469.2_Splice_Site|SIGLEC10_ENST00000356298.5_Splice_Site|SIGLEC10_ENST00000436984.2_Splice_Site|SIGLEC10_ENST00000442846.3_Splice_Site|SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000441969.3_Splice_Site|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000525998.1_Splice_Site NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCCTGGGACCCTGTGGGGAGA 0.637000 39 67 0 0 0.008740 0 0 MSR1 4481 broad.mit.edu 37 8 15978113 15978113 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:15978113G>A ENST00000262101.5 - 9 1157 c.1036C>T c.(1036-1038)Cca>Tca p.P346S MSR1_ENST00000445506.2_Missense_Mutation_p.P364S|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron P21757 MSRE_HUMAN macrophage scavenger receptor 1 346 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) TTCGTAAATGGAGCTGTAAAG 0.413000 20 31 0 0 0.008871 0 0 FAT3 120114 broad.mit.edu 37 11 92532817 92532817 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:92532817C>T ENST00000298047.6 + 9 6655 c.6638C>T c.(6637-6639)cCa>cTa p.P2213L FAT3_ENST00000525166.1_Missense_Mutation_p.P2063L|FAT3_ENST00000409404.2_Missense_Mutation_p.P2213L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2213 Cadherin 20. 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) GCCACCAGTCCAGAAGGCCAA 0.418000 TCGA Ovarian(4;0.039) 30 39 0 0 0.008361 0 0 RYR3 6263 broad.mit.edu 37 15 33928595 33928595 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:33928595G>A ENST00000389232.4 + 27 3470 c.3400G>A c.(3400-3402)Gga>Aga p.G1134R RYR3_ENST00000415757.3_Missense_Mutation_p.G1134R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1134 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGGCATCAAGGAAGTGGGTA 0.493000 61 179 0 0 0.014410 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802664 31802664 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:31802664C>T ENST00000334068.2 + 1 93 c.71C>T c.(70-72)tCc>tTc p.S24F NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 24 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 TACCCAGGCTCCTACCCCAGC 0.582000 50 142 0 0 0.014410 0 0 CD163L1 283316 broad.mit.edu 37 12 7531787 7531787 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:7531787C>T ENST00000313599.3 - 9 2215 c.2158G>A c.(2158-2160)Gga>Aga p.G720R CD163L1_ENST00000396630.1_Missense_Mutation_p.G720R|CD163L1_ENST00000416109.2_Missense_Mutation_p.G730R|CD163L1_ENST00000544331.1_Intron Q9NR16 C163B_HUMAN CD163 molecule-like 1 720 SRCR 7. 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 ATGTTCATTCCCCAGCCATTA 0.493000 28 93 0 0 0.009535 0 0 SH3RF3 344558 broad.mit.edu 37 2 110049062 110049062 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:110049062G>A ENST00000309415.6 + 6 1509 c.1509G>A c.(1507-1509)aaG>aaA p.K503K NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 503 SH3 3. zinc ion binding p.K503N(1) endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GCTGGTTCAAGGGGGCGTCTC 0.617000 15 27 0 0 0.002450 0 0 ZIC2 7546 broad.mit.edu 37 13 100634891 100634891 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr13:100634891G>A ENST00000376335.3 + 1 866 c.573G>A c.(571-573)tcG>tcA p.S191S NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 191 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCGGGCGCTCGGAGCAATACC 0.667000 27 17 0 0 0.004656 0 0 CTR9 9646 broad.mit.edu 37 11 10776652 10776652 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:10776652C>T ENST00000361367.2 + 3 718 c.292C>T c.(292-294)Cgg>Tgg p.R98W NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 98 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) ACAACAGGCTCGGAAAGAAAA 0.373000 29 129 0 0 0.009535 0 0 OR56A4 120793 broad.mit.edu 37 11 6024232 6024232 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:6024232C>T ENST00000330728.4 - 1 192 c.147G>A c.(145-147)agG>agA p.R49R NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 198 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) TGTAAAGTTTCCTGATCAATC 0.463000 9 58 0 0 0.004482 0 0 PDGFRA 5156 broad.mit.edu 37 4 55156545 55156545 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:55156545G>A ENST00000257290.5 + 22 3277 c.2946G>A c.(2944-2946)gtG>gtA p.V982V FIP1L1_ENST00000507166.1_Silent_p.V742V NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 982 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 p.V982V(1) 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) GCATGCGTGTGGACTCAGACA 0.453000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 28 73 0 0 0.005443 0 0 ENPP6 133121 broad.mit.edu 37 4 185038965 185038965 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:185038965C>T ENST00000296741.2 - 4 763 c.622G>A c.(622-624)Gat>Aat p.D208N NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 208 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) TTGAGGGCATCTTTCCTCTGC 0.587000 33 146 0 0 0.004289 0 0 OR13C3 138803 broad.mit.edu 37 9 107298405 107298405 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:107298405C>T ENST00000374781.2 - 1 732 c.690G>A c.(688-690)gtG>gtA p.V230V NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TATTTGATATCACCATGGTGA 0.388000 33 63 0 0 0.010818 0 0 AJAP1 55966 broad.mit.edu 37 1 4832398 4832398 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:4832398G>A ENST00000378191.4 + 4 1357 c.976G>A c.(976-978)Gag>Aag p.E326K AJAP1_ENST00000378190.3_Missense_Mutation_p.E326K NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 326 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CAACCAGCAGGAGGAGAGCTG 0.617000 34 62 0 0 0.013726 0 0 OR4K1 79544 broad.mit.edu 37 14 20404190 20404190 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20404190G>A ENST00000285600.4 + 1 424 c.365G>A c.(364-366)aGa>aAa p.R122K NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122T(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GCATATGACAGATTTATAGCC 0.443000 23 111 0 0 0.002780 0 0 C14orf28 122525 broad.mit.edu 37 14 45369670 45369670 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:45369670C>T ENST00000325192.3 + 2 307 c.32C>T c.(31-33)tCa>tTa p.S11L C14orf28_ENST00000557112.1_Missense_Mutation_p.S11L|RP11-857B24.5_ENST00000555157.1_RNA NM_001017923.1 NP_001017923.1 Q4W4Y0 CN028_HUMAN chromosome 14 open reading frame 28 11 endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2) 11 ATCAAAGCATCAATTAAAAAT 0.328000 25 98 0 0 0.003954 0 0 RNF20 56254 broad.mit.edu 37 9 104302837 104302837 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:104302837C>T ENST00000389120.3 + 4 453 c.363C>T c.(361-363)ctC>ctT p.L121L NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 121 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GAGACCTACTCACAGAACGAA 0.453000 21 49 0 0 0.012319 0 0 EPB41L4B 54566 broad.mit.edu 37 9 112004083 112004083 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:112004083G>A ENST00000374557.4 - 16 1933 c.1416C>T c.(1414-1416)tcC>tcT p.S472S EPB41L4B_ENST00000374566.3_Intron NM_018424.2 NP_060894.2 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 0 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CATCCTGAAAGGATGGCCTGT 0.468000 48 123 0 0 0.014410 0 0 CFB 629 broad.mit.edu 37 6 31919130 31919130 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:31919130G>A ENST00000556679.1 + 28 3530 c.3475G>A c.(3475-3477)Gag>Aag p.E1159K CFB_ENST00000477310.1_Missense_Mutation_p.E1008K|CFB_ENST00000456570.1_Missense_Mutation_p.E1159K|CFB_ENST00000425368.2_Missense_Mutation_p.E657K P00751 CFAB_HUMAN complement factor B 657 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 AGGCAGCTGTGAGAGAGATGC 0.532000 111 275 0 0 0.014410 0 0 CXCR1 3577 broad.mit.edu 37 2 219029047 219029047 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:219029047G>A ENST00000295683.2 - 2 1008 c.888C>T c.(886-888)ctC>ctT p.L296L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 296 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GGCAGCTATGGAGAAATCCCA 0.562000 50 109 0 0 0.014410 0 0 FAM65C 140876 broad.mit.edu 37 20 49225247 49225247 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:49225247C>T ENST00000327979.2 - 10 1112 c.701G>A c.(700-702)tGg>tAg p.W234* FAM65C_ENST00000535356.1_Nonsense_Mutation_p.W238*|FAM65C_ENST00000045083.2_Nonsense_Mutation_p.W234* Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 234 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTGAGCTTCCAACGCTGGCG 0.647000 65 159 0 0 0.014410 0 0 ITFG1 81533 broad.mit.edu 37 16 47462722 47462722 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:47462722A>C ENST00000320640.6 - 6 876 c.648T>G c.(646-648)ttT>ttG p.F216L ITFG1_ENST00000544001.2_Missense_Mutation_p.F103L NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 216 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) CACCTGCTGTAAAATCTTCAG 0.318000 11 70 0 0 0.013537 0 0 FAM181A 90050 broad.mit.edu 37 14 94394861 94394861 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94394861G>A ENST00000267594.5 + 3 723 c.416G>A c.(415-417)aGg>aAg p.R139K FAM181A_ENST00000557719.1_Missense_Mutation_p.R77K|FAM181A_ENST00000557000.2_Missense_Mutation_p.R77K|FAM181A_ENST00000556222.1_Missense_Mutation_p.R77K NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 139 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GACCGGCCCAGGAGGCTGCTC 0.647000 27 60 0 0 0.006320 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720281 140720281 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140720281C>T ENST00000394576.2 + 1 1743 c.1743C>T c.(1741-1743)tcC>tcT p.S581S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCCGCTCCGCAGAGCCCG 0.662000 99 149 0 0 0.014410 0 0 NDN 4692 broad.mit.edu 37 15 23932166 23932166 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:23932166G>A ENST00000331837.4 - 1 284 c.199C>T c.(199-201)Ccg>Tcg p.P67S NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 67 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGGGCCTTCGGGTCGCCCTCG 0.801000 Prader-Willi syndrome 3 6 0 0 0.009096 0 0 HEMK1 51409 broad.mit.edu 37 3 50615261 50615261 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:50615261C>T ENST00000232854.4 + 7 1171 c.619C>T c.(619-621)Cgg>Tgg p.R207W HEMK1_ENST00000455834.1_Missense_Mutation_p.R207W|HEMK1_ENST00000434410.1_Missense_Mutation_p.R207W NM_016173.3 NP_057257.1 Q9Y5R4 HEMK1_HUMAN HemK methyltransferase family member 1 207 DNA methylation DNA binding|N-methyltransferase activity|protein methyltransferase activity lung(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212) GTGTAGGCTTCGGTTGCAGGA 0.547000 124 144 0 0 0.014410 0 0 GRIK2 2898 broad.mit.edu 37 6 102503254 102503254 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:102503254G>A ENST00000369138.1 + 15 2851 c.2361G>A c.(2359-2361)gaG>gaA p.E787E GRIK2_ENST00000421544.1_Silent_p.E787E|GRIK2_ENST00000369137.3_Silent_p.E711E|GRIK2_ENST00000413795.1_Silent_p.E787E|GRIK2_ENST00000318991.6_Silent_p.E787E|GRIK2_ENST00000369134.4_Silent_p.E738E NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 787 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGCTGCAAGAGGAAGGCAAAC 0.438000 15 31 0 0 0.003163 0 0 DAB1 1600 broad.mit.edu 37 1 57611094 57611094 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57611094G>A ENST00000371236.2 - 3 339 c.76C>T c.(76-78)Cgc>Tgc p.R26C DAB1_ENST00000371230.1_Missense_Mutation_p.R26C|DAB1_ENST00000420954.2_Missense_Mutation_p.R26C|DAB1_ENST00000371231.1_Missense_Mutation_p.R26C|DAB1_ENST00000439789.2_Missense_Mutation_p.R26C|DAB1_ENST00000414851.2_Missense_Mutation_p.R26C|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.R26C O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 26 cell differentiation|nervous system development 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 GCTTCACTGCGATCCTGACCT 0.458000 26 69 0 0 0.004656 0 0 RAX 30062 broad.mit.edu 37 18 56936640 56936640 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:56936640T>G ENST00000334889.3 - 3 823 c.637A>C c.(637-639)Agc>Cgc p.S213R RAX_ENST00000256852.7_3'UTR NM_013435.2 NP_038463.2 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 213 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) GGGGAGCGGCTGAAGGAGAGG 0.736000 3 9 0 0 0.009096 0 0 IL4R 3566 broad.mit.edu 37 16 27374928 27374928 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:27374928C>T ENST00000395762.2 + 11 2514 c.2255C>T c.(2254-2256)tCc>tTc p.S752F IL4R_ENST00000170630.2_Missense_Mutation_p.S752F|IL4R_ENST00000543915.2_Missense_Mutation_p.S752F|IL4R_ENST00000380922.3_Missense_Mutation_p.S737F NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 752 S -> A (in dbSNP:rs1805016). 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 GGAGACAGGTCCTCGCCCCCT 0.667000 16 61 0 0 0.006122 0 0 PTPRU 10076 broad.mit.edu 37 1 29647278 29647278 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:29647278G>A ENST00000373779.3 + 26 3898 c.3769G>A c.(3769-3771)Gat>Aat p.D1257N PTPRU_ENST00000460170.2_Missense_Mutation_p.D1263N|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1254N|PTPRU_ENST00000345512.3_Missense_Mutation_p.D1267N|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1263N|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1263N NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1267 Tyrosine-protein phosphatase 2. 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) GCTGGTCTACGATTACGGGTG 0.642000 40 88 0 0 0.007835 0 0 ZNF8 7554 broad.mit.edu 37 19 58806335 58806335 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:58806335C>T ENST00000196548.5 + 4 1292 c.1161C>T c.(1159-1161)caC>caT p.H387H AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) TTTTCCTGCACCTGAGAACTC 0.612000 49 59 0 0 0.014410 0 0 CLDN16 10686 broad.mit.edu 37 3 190106125 190106125 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:190106125G>A ENST00000264734.2 + 1 465 c.217G>A c.(217-219)Gat>Aat p.D73N CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.D73N NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 73 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity p.D73N(1) breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) CACAATGAGGGATCTTCTTCA 0.517000 66 94 0 0 0.014410 0 0 ADCY8 114 broad.mit.edu 37 8 131848648 131848648 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:131848648G>A ENST00000286355.5 - 12 4642 c.2550C>T c.(2548-2550)ttC>ttT p.F850F ADCY8_ENST00000377928.3_Silent_p.F719F NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 850 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) TCAGCCGGAGGAAAACTGCAC 0.547000 HNSCC(32;0.087) 12 49 0 0 0.013537 0 0 OR8B2 26595 broad.mit.edu 37 11 124252919 124252919 + Silent SNP G G A rs2320234 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:124252919G>A ENST00000375013.2 - 1 339 c.321C>T c.(319-321)ttC>ttT p.F107F NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F107F(1) 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) CAGAGATGACGAAAAAGAGAA 0.398000 19 43 0 0 0.007413 0 0 ANAPC7 51434 broad.mit.edu 37 12 110815261 110815261 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:110815261C>T ENST00000455511.3 - 9 1396 c.1396G>A c.(1396-1398)Gat>Aat p.D466N ANAPC7_ENST00000481473.1_5'UTR|ANAPC7_ENST00000450008.2_Missense_Mutation_p.D466N NM_016238.2 NP_057322.2 Q9UJX3 APC7_HUMAN anaphase promoting complex subunit 7 466 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 AGGGCTTTATCTAATAATGTT 0.413000 53 168 0 0 0.014410 0 0 NLRP5 126206 broad.mit.edu 37 19 56515209 56515209 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:56515209G>A ENST00000390649.3 + 2 190 c.190G>A c.(190-192)Ggg>Agg p.G64R NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 64 DAPIN. 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) TTCCAGCTACGGGCTGCAATG 0.423000 50 91 0 0 0.014410 0 0 EPHA7 2045 broad.mit.edu 37 6 93964437 93964437 + Nonsense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:93964437C>T ENST00000369303.4 - 14 2644 c.2460G>A c.(2458-2460)tgG>tgA p.W820* NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 820 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTCCATAGCTCCATACATCAC 0.388000 15 17 0 0 0.004007 0 0 SLC4A9 83697 broad.mit.edu 37 5 139740450 139740450 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:139740450C>T ENST00000230993.6 + 2 391 c.356C>T c.(355-357)cCc>cTc p.P119L SLC4A9_ENST00000506545.1_Missense_Mutation_p.P95L|SLC4A9_ENST00000507527.1_Missense_Mutation_p.P119L|SLC4A9_ENST00000506757.2_Missense_Mutation_p.P95L|SLC4A9_ENST00000432095.2_Missense_Mutation_p.P95L NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 119 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGTGCCCCCCACGTGCCC 0.622000 16 28 0 0 0.004007 0 0 CCDC158 339965 broad.mit.edu 37 4 77300459 77300459 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:77300459C>T ENST00000388914.3 - 8 1165 c.1013G>A c.(1012-1014)aGg>aAg p.R338K CCDC158_ENST00000434846.2_Missense_Mutation_p.R338K NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 338 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TTCATACATCCTTTTGGCTTC 0.353000 13 72 0 0 0.001855 0 0 AKAP8L 26993 broad.mit.edu 37 19 15507970 15507970 + Silent SNP C C T rs45541735 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:15507970C>T ENST00000397410.4 - 12 1591 c.1527G>A c.(1525-1527)cgG>cgA p.R509R AKAP8L_ENST00000595465.1_Silent_p.R448R NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 509 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CCCTGCGGTTCCGGTTGTGAT 0.572000 221 269 0 0 0.014410 0 0 DBX2 440097 broad.mit.edu 37 12 45417530 45417530 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:45417530C>T ENST00000332700.6 - 3 818 c.647G>A c.(646-648)cGa>cAa p.R216Q NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) AAGTTTCTTTCGGTCTGTTTT 0.413000 78 306 0 0 0.014410 0 0 F13B 2165 broad.mit.edu 37 1 197026446 197026446 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:197026446C>T ENST00000367412.1 - 6 998 c.955G>A c.(955-957)Gga>Aga p.G319R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 319 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GTCCATTTTCCATCTTCACAA 0.358000 21 69 0 0 0.002780 0 0 BCL11B 64919 broad.mit.edu 37 14 99641457 99641457 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:99641457C>T ENST00000345514.2 - 3 1769 c.1503G>A c.(1501-1503)ggG>ggA p.G501G BCL11B_ENST00000357195.3_Silent_p.G572G|BCL11B_ENST00000443726.2_Silent_p.G378G NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 572 nucleus zinc ion binding p.G643G(1) NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) ccccgggcACCCCACCACCGC 0.711000 T TLX3 T-ALL 10 37 0 0 0.008291 0 0 SKI 6497 broad.mit.edu 37 1 2237546 2237546 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:2237546C>T ENST00000378536.4 + 6 1927 c.1855C>T c.(1855-1857)Ctc>Ttc p.L619F NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 619 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) GATCGAGCGTCTCCGCGCCGA 0.662000 5 11 0 0 0.001984 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993861 96993861 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:96993861A>G ENST00000361124.4 + 1 1927 c.1516A>G c.(1516-1518)Aat>Gat p.N506D ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.N498D|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.N490D|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.N490D NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 498 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CATTGGTAACAATTTTCTGCC 0.532000 77 113 0 0 0.014410 0 0 DGKG 1608 broad.mit.edu 37 3 185975698 185975698 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:185975698G>A ENST00000265022.3 - 17 1994 c.1455C>T c.(1453-1455)ttC>ttT p.F485F DGKG_ENST00000382164.4_Silent_p.F446F|DGKG_ENST00000544847.1_Silent_p.F426F|DGKG_ENST00000344484.4_Silent_p.F460F NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 485 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 breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CCAAAACACGGAAGTCTGGAG 0.463000 86 136 0 0 0.014410 0 0 KANK4 163782 broad.mit.edu 37 1 62703961 62703961 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:62703961G>A ENST00000371153.4 - 10 3354 c.2976C>T c.(2974-2976)tcC>tcT p.S992S KANK4_ENST00000354381.3_Silent_p.S364S|KANK4_ENST00000317477.4_Silent_p.S130S|KANK4_ENST00000371150.1_Silent_p.S348S NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 992 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 ACAGCCCCAGGGACCTGCCCT 0.607000 20 42 0 0 0.010504 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853514 12853514 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12853514G>A ENST00000332296.7 + 2 241 c.138G>A c.(136-138)agG>agA p.R46R NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 46 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) CCTTCAGCAGGAGACACTTCC 0.572000 82 49 0 0 0.014410 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943800 9943800 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:9943800G>A ENST00000396573.2 - 6 1450 c.1141C>T c.(1141-1143)Cat>Tat p.H381Y GRIN2A_ENST00000330684.3_Missense_Mutation_p.H381Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.H381Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H224Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H381Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H381Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 381 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) CTCAGCGTATGGTTCTCCCAC 0.577000 11 41 0 0 0.013537 0 0 RBBP5 5929 broad.mit.edu 37 1 205068906 205068906 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:205068906G>A ENST00000264515.6 - 9 1082 c.941C>T c.(940-942)tCc>tTc p.S314F RBBP5_ENST00000367164.1_Missense_Mutation_p.S314F NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 314 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CACTCCACTGGAAATGGATGC 0.348000 61 157 0 0 0.014410 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587468 42587468 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:42587468C>T ENST00000289957.2 + 5 1146 c.1018C>T c.(1018-1020)Ctg>Ttg p.L340L NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 340 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GAGGCTCTTTCTGCAGAAACT 0.468000 38 230 0 0 0.007835 0 0 CLP1 10978 broad.mit.edu 37 11 57427179 57427179 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:57427179C>T ENST00000533682.1 + 2 956 c.231C>T c.(229-231)ggC>ggT p.G77G CLP1_ENST00000302731.4_Silent_p.G77G|CLP1_ENST00000525602.1_Silent_p.G77G|CLP1_ENST00000529430.1_Silent_p.G88G Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 77 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 AACTGAGCGGCCGCACTGAGG 0.517000 34 66 0 0 0.004878 0 0 OTOP2 92736 broad.mit.edu 37 17 72926630 72926630 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:72926630C>T ENST00000331427.4 + 6 992 c.900C>T c.(898-900)ttC>ttT p.F300F OTOP2_ENST00000580223.1_Silent_p.F300F NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 300 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) TGCTGCTCTTCGTGGTGGGGC 0.617000 53 115 0 0 0.014410 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008385 142008385 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:142008385G>A ENST00000390387.3 + 0 21 CCTGCCCTGGGCCTTGCCTGG 0.612000 5 10 0 0 0.001984 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42819858 42819858 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:42819858C>T ENST00000314073.5 + 7 2044 c.1868C>T c.(1867-1869)tCc>tTc p.S623F GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S623F GLTSCR1-like AATCAGACTTCCCCCATTTCT 0.438000 14 60 0 0 0.003163 0 0 PER2 8864 broad.mit.edu 37 2 239162251 239162251 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:239162251G>A ENST00000254657.3 - 19 2692 c.2413C>T c.(2413-2415)Cga>Tga p.R805* PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 805 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GATGAGTCTCGAGGTTTGACC 0.557000 5 27 0 0 0.000602 0 0 EMB 133418 broad.mit.edu 37 5 49724020 49724020 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:49724020C>T ENST00000303221.5 - 2 369 c.154G>A c.(154-156)Gca>Aca p.A52T EMB_ENST00000508934.1_Missense_Mutation_p.A52T|EMB_ENST00000514111.1_Missense_Mutation_p.A2T|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 52 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) AAGTTATTTGCCATTATTTCT 0.318000 11 41 0 0 0.010729 0 0 MSLNL 401827 broad.mit.edu 37 16 820915 820915 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:820915C>T ENST00000293892.3 - 13 2469 c.2470G>A c.(2470-2472)Gac>Aac p.D824N MSLNL_ENST00000442466.1_Missense_Mutation_p.D473N Q96KJ4 MSLNL_HUMAN mesothelin-like 473 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TAGAGCACGTCCTTCCGGCTC 0.687000 4 13 0 0 0.009096 0 0 C1orf106 55765 broad.mit.edu 37 1 200868714 200868714 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:200868714C>T ENST00000367342.4 + 3 624 c.424C>T c.(424-426)Ctt>Ttt p.L142F C1orf106_ENST00000413687.2_Missense_Mutation_p.L57F NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 142 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GAGACTCTGCCTTCGGGAAGC 0.647000 14 33 0 0 0.002450 0 0 HEPHL1 341208 broad.mit.edu 37 11 93806484 93806484 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:93806484C>T ENST00000315765.9 + 8 1391 c.1383C>T c.(1381-1383)atC>atT p.I461I NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 461 Plastocyanin-like 3. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GCCCAGTCATCAAGGCAGAGG 0.438000 6 10 0 0 0.001984 0 0 DGKI 9162 broad.mit.edu 37 7 137150693 137150693 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:137150693G>A ENST00000453654.1 - 27 2266 c.1727C>T c.(1726-1728)cCt>cTt p.P576L DGKI_ENST00000424189.2_Missense_Mutation_p.P879L|DGKI_ENST00000288490.5_Missense_Mutation_p.P866L|DGKI_ENST00000446122.1_Missense_Mutation_p.P848L O75912 DGKI_HUMAN diacylglycerol kinase, iota 866 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 CATGCCCGGAGGTGTCCCCGC 0.542000 34 73 0 0 0.013726 0 0 UMODL1 89766 broad.mit.edu 37 21 43547287 43547287 + Silent SNP G G A rs147967794 by1000genomes TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:43547287G>A ENST00000400427.1 + 18 4029 c.3633G>A c.(3631-3633)acG>acA p.T1211T UMODL1_ENST00000400424.1_Silent_p.T1083T|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.T1155T|UMODL1_ENST00000408989.2_Silent_p.T1283T NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 1155 ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity p.T1083T(1)|p.T1283T(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TGGTCCTGACGGAGTGCTGGG 0.567000 30 120 0 0 0.007291 0 0 TACR1 6869 broad.mit.edu 37 2 75425980 75425980 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:75425980T>C ENST00000305249.4 - 1 846 c.81A>G c.(79-81)caA>caG p.Q27Q TACR1_ENST00000409848.3_Silent_p.Q27Q NM_001058.3 NP_001049.1 P25103 NK1R_HUMAN tachykinin receptor 1 27 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1) 24 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) GCCAGGCTGGTTGCACGAACT 0.537000 31 51 0 0 0.009535 0 0 TADA3 10474 broad.mit.edu 37 3 9831435 9831435 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:9831435G>A ENST00000343450.2 - 3 967 c.420C>T c.(418-420)atC>atT p.I140I TADA3_ENST00000440161.1_Silent_p.I140I|TADA3_ENST00000301964.2_Silent_p.I140I|TADA3_ENST00000492635.1_5'UTR NM_133480.1 NP_597814.1 O75528 TADA3_HUMAN transcriptional adaptor 3 140 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 GTGGCACGTCGATAGGGTCAT 0.572000 92 329 0 0 0.014410 0 0 OR5M3 219482 broad.mit.edu 37 11 56237476 56237476 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56237476G>A ENST00000312240.2 - 1 538 c.498C>T c.(496-498)ttC>ttT p.F166F NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 166 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) TTTTTCCACAGAAGTACAAGC 0.398000 30 39 0 0 0.009535 0 0 GPR171 29909 broad.mit.edu 37 3 150916315 150916315 + Missense_Mutation SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:150916315G>T ENST00000309180.5 - 3 1089 c.859C>A c.(859-861)Cac>Aac p.H287N MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_013308.3 NP_037440.3 O14626 GP171_HUMAN G protein-coupled receptor 171 287 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTGAGAGGTGATAGTACAGG 0.428000 21 84 5.35356e-11 5.45382e-11 0.002780 1 0 FAM227B 196951 broad.mit.edu 37 15 49869031 49869031 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:49869031G>A ENST00000299338.6 - 7 756 c.453C>T c.(451-453)ttC>ttT p.F151F FAM227B_ENST00000561064.1_Silent_p.F151F|FAM227B_ENST00000558594.1_3'UTR|FAM227B_ENST00000560246.1_3'UTR NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TGAATCCTGTGAAGCTGCAAC 0.328000 9 24 0 0 0.008291 0 0 BAAT 570 broad.mit.edu 37 9 104124832 104124832 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:104124832C>T ENST00000259407.2 - 4 1243 c.1135G>A c.(1135-1137)Gat>Aat p.D379N BAAT_ENST00000395051.3_Missense_Mutation_p.D379N NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 379 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) AACCTCAAATCGTGGGTCGTT 0.542000 29 40 0 0 0.007291 0 0 HERC5 51191 broad.mit.edu 37 4 89384700 89384700 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:89384700C>T ENST00000264350.3 + 5 859 c.706C>T c.(706-708)Ctt>Ttt p.L236F NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 236 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TGATCCATCCCTTATTGAAGG 0.438000 25 117 0 0 0.003330 0 0 RP11-876N24.2 0 broad.mit.edu 37 16 10960234 10960234 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:10960234C>T ENST00000572017.1 - 0 438 CTTGGACAACCTGCTGAAGGA 0.567000 10 36 0 0 0.006214 0 0 LOXL1 4016 broad.mit.edu 37 15 74240205 74240205 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:74240205G>A ENST00000261921.7 + 5 1890 c.1564G>A c.(1564-1566)Gac>Aac p.D522N LOXL1_ENST00000567675.1_3'UTR NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 522 Lysyl-oxidase like. 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 CCAGTGGATCGACATAACCGA 0.577000 47 163 0 0 0.014410 0 0 NPAP1 23742 broad.mit.edu 37 15 24923385 24923385 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:24923385G>A ENST00000329468.2 + 1 2845 c.2371G>A c.(2371-2373)Gat>Aat p.D791N NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGTGCCCATGATTTCCTGAG 0.537000 115 309 0 0 0.014410 0 0 PTPRT 11122 broad.mit.edu 37 20 41400150 41400150 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:41400150C>T ENST00000373198.3 - 5 844 c.609G>A c.(607-609)gtG>gtA p.V203V PTPRT_ENST00000373201.1_Silent_p.V203V|PTPRT_ENST00000373193.3_Silent_p.V203V|PTPRT_ENST00000373190.1_Silent_p.V203V|PTPRT_ENST00000373187.1_Silent_p.V203V|PTPRT_ENST00000373184.1_Silent_p.V203V|PTPRT_ENST00000356100.2_Silent_p.V203V NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 203 Ig-like C2-type. 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) GCCCCACATTCACCTCCACGT 0.493000 46 151 0 0 0.014410 0 0 ADH6 130 broad.mit.edu 37 4 100125387 100125387 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:100125387G>A ENST00000394899.2 - 9 1210 c.1117C>T c.(1117-1119)Ctg>Ttg p.L373L ADH6_ENST00000407820.2_Silent_p.L164L|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA NM_001102470.1 NP_001095940.1 P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 0 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TAAAGTAACAGGATACAGCGG 0.318000 8 42 0 0 0.010729 0 0 CNR2 1269 broad.mit.edu 37 1 24201076 24201076 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:24201076C>T ENST00000536471.1 - 3 1290 c.1032G>A c.(1030-1032)ggG>ggA p.G344G CNR2_ENST00000374472.4_Silent_p.G344G P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 344 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GAGTGATTTTCCCATCAGCCT 0.507000 43 130 0 0 0.011902 0 0 FRAS1 80144 broad.mit.edu 37 4 79437009 79437009 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:79437009G>A ENST00000264895.6 + 66 10671 c.10231G>A c.(10231-10233)Gat>Aat p.D3411N NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3406 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 GCCTGGCTACGATCGCCCCTT 0.552000 6 52 0 0 0.003080 0 0 TONSL 4796 broad.mit.edu 37 8 145667651 145667651 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145667651C>T ENST00000409379.3 - 6 752 c.723G>A c.(721-723)gaG>gaA p.E241E NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 241 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 AGCACTCGCTCTCCATGAACC 0.627000 37 115 0 0 0.006230 0 0 GRK4 2868 broad.mit.edu 37 4 2994003 2994003 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:2994003G>A ENST00000398052.4 + 4 666 c.323G>A c.(322-324)aGa>aAa p.R108K GRK4_ENST00000398051.4_Missense_Mutation_p.R76K|GRK4_ENST00000345167.6_Missense_Mutation_p.R76K|GRK4_ENST00000504933.1_Missense_Mutation_p.R108K NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 108 N-terminal.|RGS. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCTTAGATAGATTCTTCAAT 0.338000 8 51 0 0 0.008291 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119936706 119936706 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:119936706G>A ENST00000297350.4 - 5 1491 c.1113C>T c.(1111-1113)ttC>ttT p.F371F NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 371 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) AGCTGTGAAGGAACCTGATGG 0.393000 64 242 0 0 0.014410 0 0 HFE2 148738 broad.mit.edu 37 1 145416898 145416898 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:145416898C>T ENST00000336751.5 + 4 1481 c.1243C>T c.(1243-1245)Ctt>Ttt p.L415F HFE2_ENST00000497365.1_Missense_Mutation_p.L189F|HFE2_ENST00000475797.1_Missense_Mutation_p.L189F|HFE2_ENST00000357836.5_Missense_Mutation_p.L302F NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 415 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCTCCACTCCTTTCTGGGCT 0.498000 136 218 0 0 0.014410 0 0 PCDH15 65217 broad.mit.edu 37 10 55973765 55973765 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:55973765C>T ENST00000373965.2 - 10 1423 c.1029G>A c.(1027-1029)agG>agA p.R343R PCDH15_ENST00000395432.2_Silent_p.R306R|PCDH15_ENST00000320301.6_Silent_p.R343R|PCDH15_ENST00000395438.1_Silent_p.R343R|PCDH15_ENST00000414778.1_Silent_p.R348R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373957.3_Silent_p.R321R|PCDH15_ENST00000395446.1_Silent_p.R343R|PCDH15_ENST00000437009.1_Silent_p.R343R|PCDH15_ENST00000395440.1_Silent_p.R343R|PCDH15_ENST00000395442.1_Silent_p.R343R|PCDH15_ENST00000373955.1_Silent_p.R343R|PCDH15_ENST00000395445.1_Silent_p.R343R|PCDH15_ENST00000361849.3_Silent_p.R343R|PCDH15_ENST00000395433.1_Silent_p.R321R|PCDH15_ENST00000395430.1_Silent_p.R343R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 343 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTCTGCTGTCCTAGGATGCA 0.363000 HNSCC(58;0.16) 26 58 0 0 0.010818 0 0 KCNA10 3744 broad.mit.edu 37 1 111060588 111060588 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:111060588C>T ENST00000369771.2 - 1 1209 c.822G>A c.(820-822)gtG>gtA p.V274V NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 274 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AGGTAGACTCCACCATGAAGA 0.532000 51 159 0 0 0.014410 0 0 PDGFRL 5157 broad.mit.edu 37 8 17486116 17486116 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:17486116G>A ENST00000541323.1 + 5 1071 c.626G>A c.(625-627)aGg>aAg p.R209K PDGFRL_ENST00000398074.3_Missense_Mutation_p.R209K|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R209K NM_006207.2 NP_006198.1 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 209 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 9 Colorectal(111;0.0752) ACGCTCCACAGGGAATTCCCA 0.547000 45 103 0 0 0.009718 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956650 16956650 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:16956650G>A ENST00000412962.1 - 0 294 GGGGCGTGGGGATCACAGAGT 0.647000 8 95 0 0 0.003080 0 0 ERO1L 30001 broad.mit.edu 37 14 53119019 53119019 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:53119019G>A ENST00000395686.3 - 13 1286 c.1063C>T c.(1063-1065)Cct>Tct p.P355S NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 355 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) AAATGCAAAGGAAATGACCTG 0.279000 32 95 0 0 0.003271 0 0 INHBC 3626 broad.mit.edu 37 12 57843707 57843707 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:57843707G>A ENST00000309668.2 + 2 1088 c.961G>A c.(961-963)Gcc>Acc p.A321T INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 321 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 TGTACCCACGGCCCGGCGCCC 0.562000 42 114 0 0 0.006230 0 0 EMR1 2015 broad.mit.edu 37 19 6897271 6897271 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:6897271G>A ENST00000312053.4 + 4 387 c.350G>A c.(349-351)gGa>gAa p.G117E EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Missense_Mutation_p.G117E|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.G117E NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 117 EGF-like 2; calcium-binding (Potential). 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) TCTCCCACTGGAAATGACTGG 0.522000 25 55 0 0 0.007291 0 0 KAT6A 7994 broad.mit.edu 37 8 41790352 41790352 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:41790352G>A ENST00000396930.3 - 18 5929 c.5386C>T c.(5386-5388)Cca>Tca p.P1796S KAT6A_ENST00000265713.2_Missense_Mutation_p.P1796S|KAT6A_ENST00000406337.1_Missense_Mutation_p.P1796S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1796 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGATGAGATGGAGCCAGCTGA 0.522000 50 186 0 0 0.014410 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50513579 50513579 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:50513579C>T ENST00000435965.1 - 2 431 c.258G>A c.(256-258)cgG>cgA p.R86R CACNA2D2_ENST00000487413.1_5'UTR|CACNA2D2_ENST00000424201.2_Silent_p.R86R|CACNA2D2_ENST00000479441.1_Silent_p.R86R|CACNA2D2_ENST00000360963.3_Silent_p.R17R|CACNA2D2_ENST00000266039.3_Silent_p.R86R|CACNA2D2_ENST00000395083.1_Silent_p.R86R|CACNA2D2_ENST00000429770.1_Silent_p.R86R|CACNA2D2_ENST00000423994.2_Silent_p.R86R Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 86 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CTCCAAAAATCCGCATCACGC 0.607000 5 23 0 0 0.000602 0 0 OCA2 4948 broad.mit.edu 37 15 28096618 28096618 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:28096618G>A ENST00000354638.3 - 22 2403 c.2248C>T c.(2248-2250)Ccc>Tcc p.P750S OCA2_ENST00000353809.5_Missense_Mutation_p.P726S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 750 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGAGCACGGGAATCTGTGGA 0.567000 Oculocutaneous Albinism 9 23 0 0 0.004482 0 0 MYH6 4624 broad.mit.edu 37 14 23865999 23865999 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:23865999G>A ENST00000405093.3 - 19 2266 c.2196C>T c.(2194-2196)atC>atT p.I732I MYH6_ENST00000356287.3_Silent_p.I732I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 732 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) GTCCCTCAGGGATGGCCACTG 0.542000 27 108 0 0 0.008361 0 0 DNAJC13 23317 broad.mit.edu 37 3 132203454 132203454 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:132203454C>T ENST00000260818.6 + 29 3453 c.3205C>T c.(3205-3207)Cgg>Tgg p.R1069W NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1069 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGCCATCATTCGGCCTCTACC 0.358000 64 80 0 0 0.014410 0 0 CRB1 23418 broad.mit.edu 37 1 197390665 197390665 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:197390665C>T ENST00000367400.3 + 6 1842 c.1707C>T c.(1705-1707)ttC>ttT p.F569F CRB1_ENST00000538660.1_Silent_p.F569F|CRB1_ENST00000543483.1_Silent_p.F268F|CRB1_ENST00000544212.1_Silent_p.F50F|CRB1_ENST00000535699.1_Silent_p.F500F|CRB1_ENST00000367399.2_Silent_p.F457F|CRB1_ENST00000367397.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 569 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.F569F(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGCATTTCGTGGAGGTAA 0.453000 68 102 0 0 0.014410 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756601 56756601 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:56756601C>T ENST00000326855.2 + 1 255 c.213C>T c.(211-213)atC>atT p.I71I NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 71 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 TTGTTGATATCTGTTACACTT 0.353000 26 31 0 0 0.003954 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722495 16722495 + RNA SNP G G T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:16722495G>T ENST00000417510.1 - 0 1235 GAGGGAAAGGGAATCAAGGAT 0.572000 15 28 0.00244969 0.00248229 0.002450 1 0 NPIPB15 440348 broad.mit.edu 37 16 74419271 74419271 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:74419271G>A ENST00000429990.1 + 3 377 c.281G>A c.(280-282)cGa>cAa p.R94Q nuclear pore complex interacting protein family, member B15 TTCTGGTCTCGAAATGGACAT 0.473000 38 207 0 0 0.014410 0 0 RYR2 6262 broad.mit.edu 37 1 237780760 237780760 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:237780760G>A ENST00000366574.2 + 38 6207 c.5890G>A c.(5890-5892)Gaa>Aaa p.E1964K RYR2_ENST00000360064.6_Missense_Mutation_p.E1962K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1948K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1964 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAAGACAAAGGAATTTAGATC 0.398000 33 66 0 0 0.003755 0 0 IL1F10 84639 broad.mit.edu 37 2 113832845 113832845 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:113832845C>T ENST00000393197.2 + 4 784 c.363C>T c.(361-363)ttC>ttT p.F121F IL1F10_ENST00000341010.2_Silent_p.F121F|IL1F10_ENST00000337569.3_Silent_p.F121F NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 121 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CTGGCTGGTTCCTGTGTGGCC 0.592000 56 125 0 0 0.014410 0 0 OR1S2 219958 broad.mit.edu 37 11 57970739 57970739 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:57970739C>T ENST00000302592.6 - 1 914 c.915G>A c.(913-915)ttG>ttA p.L305L NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) CCTTATTCCTCAAGCTGTAGA 0.438000 47 70 0 0 0.014410 0 0 ALPI 248 broad.mit.edu 37 2 233322372 233322372 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:233322372G>A ENST00000295463.3 + 6 823 c.746G>A c.(745-747)gGg>gAg p.G249E NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 249 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) AGGCTGGACGGGAAGAACCTG 0.627000 44 94 0 0 0.013114 0 0 TRPM2 7226 broad.mit.edu 37 21 45833845 45833845 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:45833845G>A ENST00000397928.1 + 20 3479 c.3034G>A c.(3034-3036)Gac>Aac p.D1012N TRPM2_ENST00000300481.9_Missense_Mutation_p.D992N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1012N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D1012N NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1012 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.D1012Y(1) 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 CCCCGAGAGCGACGCGACGCA 0.627000 137 468 0 0 0.014410 0 0 CLIC5 53405 broad.mit.edu 37 6 45870832 45870832 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:45870832C>T ENST00000185206.6 - 6 1378 c.1226G>A c.(1225-1227)cGa>cAa p.R409Q CLIC5_ENST00000339561.6_Missense_Mutation_p.R250Q NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 409 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 TGCTCAGGATCGGCTGAGGCG 0.552000 26 84 0 0 0.008361 0 0 CDH26 60437 broad.mit.edu 37 20 58558072 58558072 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:58558072C>T ENST00000348616.4 + 5 788 c.488C>T c.(487-489)cCc>cTc p.P163L CDH26_ENST00000244047.5_Missense_Mutation_p.P163L NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 163 Cadherin 1. 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) GATCATGCACCCCAGTTTCCA 0.463000 82 221 0 0 0.014410 0 0 DENND5B 160518 broad.mit.edu 37 12 31595755 31595755 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:31595755G>A ENST00000389082.5 - 7 2230 c.1966C>T c.(1966-1968)Cca>Tca p.P656S DENND5B_ENST00000536562.1_Missense_Mutation_p.P691S|DENND5B_ENST00000306833.6_Missense_Mutation_p.P691S|DENND5B_ENST00000354285.4_Missense_Mutation_p.P678S NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 656 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TGTAACTTTGGAAAGAACCCC 0.428000 4 27 0 0 0.001168 0 0 FERMT3 83706 broad.mit.edu 37 11 63978283 63978283 + Missense_Mutation SNP T T G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:63978283T>G ENST00000279227.5 + 3 456 c.361T>G c.(361-363)Ttc>Gtc p.F121V FERMT3_ENST00000345728.5_Missense_Mutation_p.F121V NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 121 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CCAGCCCCTCTTCCAGGCTGT 0.667000 76 102 0 0 0.014410 0 0 CRB1 23418 broad.mit.edu 37 1 197390744 197390744 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:197390744C>T ENST00000367400.3 + 6 1921 c.1786C>T c.(1786-1788)Cct>Tct p.P596S CRB1_ENST00000538660.1_Missense_Mutation_p.P596S|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.P77S|CRB1_ENST00000535699.1_Missense_Mutation_p.P527S|CRB1_ENST00000367399.2_Missense_Mutation_p.P484S|CRB1_ENST00000367397.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 596 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGCGAAAGCTCCTACTCCACT 0.458000 43 131 0 0 0.009718 0 0 C12orf50 160419 broad.mit.edu 37 12 88390364 88390364 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 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 40 0 0 0.002450 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458594 45458594 + RNA SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:45458594C>T ENST00000548424.1 + 0 448 TAGAGCACCTCTTTTCTCTCT 0.463000 10 23 0 0 0.006214 0 0 AGO2 27161 broad.mit.edu 37 8 141572557 141572557 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:141572557G>A ENST00000220592.5 - 4 625 c.513C>T c.(511-513)tcC>tcT p.S171S AGO2_ENST00000519980.1_Silent_p.S171S NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CTCACCTCATGGATGGCAAGT 0.642000 24 77 0 0 0.002780 0 0 SETBP1 26040 broad.mit.edu 37 18 42531182 42531182 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:42531182G>A ENST00000282030.5 + 4 2173 c.1877G>A c.(1876-1878)cGa>cAa p.R626Q NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 626 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) AGAAAGCGACGACGCAATTTA 0.522000 Schinzel-Giedion syndrome 21 29 0 0 0.014323 0 0 FBXL16 146330 broad.mit.edu 37 16 745561 745561 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:745561C>T ENST00000397621.1 - 3 1327 c.996G>A c.(994-996)aaG>aaA p.K332K FBXL16_ENST00000562563.1_Silent_p.K120K|FBXL16_ENST00000324361.5_Silent_p.K332K NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 332 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) CGTCGGTGACCTTGGAGCAGC 0.667000 5 29 0 0 0.001168 0 0 MUC2 4583 broad.mit.edu 37 11 1093686 1093686 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:1093686C>T ENST00000441003.2 + 30 5532 c.5505C>T c.(5503-5505)ccC>ccT p.P1835P MUC2_ENST00000333592.6_Silent_p.P123P|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1838 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) GCACGGGGCCCCCCACCCACA 0.622000 94 151 0 0 0.014410 0 0 EIF3B 8662 broad.mit.edu 37 7 2409115 2409115 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:2409115C>T ENST00000360876.4 + 10 1468 c.1412C>T c.(1411-1413)tCt>tTt p.S471F EIF3B_ENST00000397011.2_Missense_Mutation_p.S471F NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 471 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) AGAGACTTTTCTTGGTCTCCT 0.428000 155 346 0 0 0.014410 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994729 143994729 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:143994729G>A ENST00000323110.2 - 6 1095 c.1093C>T c.(1093-1095)Ctg>Ttg p.L365L NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 365 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCCGCCCGCAGCAAGGGCAGC 0.697000 Familial Hyperaldosteronism type I 39 105 0 0 0.007835 0 0 IGSF9B 22997 broad.mit.edu 37 11 133795736 133795736 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:133795736G>A ENST00000321016.8 - 14 2162 c.1932C>T c.(1930-1932)atC>atT p.I644I IGSF9B_ENST00000533871.2_Silent_p.I644I Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 644 Fibronectin type-III 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGTAGCGGTCGATGGGAAAGC 0.612000 24 28 0 0 0.007291 0 0 STAB2 55576 broad.mit.edu 37 12 104044340 104044340 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:104044340G>A ENST00000388887.2 + 11 1445 c.1241G>A c.(1240-1242)gGa>gAa p.G414E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 414 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 ACAGACAAGGGACTGAAAGGA 0.418000 28 56 0 0 0.007291 0 0 TBL1X 6907 broad.mit.edu 37 X 9665457 9665457 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:9665457C>T ENST00000217964.7 + 12 1742 c.1102C>T c.(1102-1104)Cct>Tct p.P368S TBL1X_ENST00000407597.2_Missense_Mutation_p.P368S|TBL1X_ENST00000424279.1_Missense_Mutation_p.P317S|TBL1X_ENST00000536365.1_Missense_Mutation_p.P317S|TBL1X_ENST00000380961.1_Missense_Mutation_p.P317S NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 368 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) ACAGCAGTTTCCTTTTCATTC 0.373000 70 126 0 0 0.014410 0 0 OR4K13 390433 broad.mit.edu 37 14 20502846 20502846 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20502846C>T ENST00000315693.2 - 1 73 c.72G>A c.(70-72)caG>caA p.Q24Q NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGAATAAAATCTGAAGATTTT 0.398000 14 35 0 0 0.002450 0 0 PRR23B 389151 broad.mit.edu 37 3 138739004 138739004 + Missense_Mutation SNP C C A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:138739004C>A ENST00000329447.5 - 1 764 c.500G>T c.(499-501)cGg>cTg p.R167L MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 167 p.R167Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGAGTCCATCCGGAGCTCCGG 0.647000 31 88 9.93527e-08 1.01033e-07 0.013726 1 0 GAB4 128954 broad.mit.edu 37 22 17445691 17445691 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:17445691C>T ENST00000400588.1 - 8 1548 c.1441G>A c.(1441-1443)Gac>Aac p.D481N NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 481 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCTTCTGAGTCTGTGTTGGTG 0.567000 50 106 0 0 0.014410 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822170 43822170 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:43822170G>A ENST00000389420.3 - 26 3818 c.3819C>T c.(3817-3819)tcC>tcT p.S1273S ADAMTS20_ENST00000553158.1_Silent_p.S1273S|ADAMTS20_ENST00000395541.2_Silent_p.S391S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1273 S -> F (in dbSNP:rs7310011). 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) GCTGCACAGGGGAACTAGGAA 0.458000 16 46 0 0 0.008871 0 0 TFR2 7036 broad.mit.edu 37 7 100229531 100229531 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:100229531A>T ENST00000462107.1 - 9 1291 c.1004T>A c.(1003-1005)tTc>tAc p.F335Y TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.F335Y|TFR2_ENST00000431692.1_Intron Q9UP52 TFR2_HUMAN transferrin receptor 2 335 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GAAGGAAGGGAAGCCAGGTGT 0.582000 44 115 0 0 0.008740 0 0 USP26 83844 broad.mit.edu 37 X 132160489 132160489 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:132160489G>A ENST00000511190.1 - 6 2229 c.1760C>T c.(1759-1761)tCa>tTa p.S587L USP26_ENST00000370832.1_Missense_Mutation_p.S587L|USP26_ENST00000406273.1_Missense_Mutation_p.S587L NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 587 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) TGCAGGCCATGATACACTGAT 0.418000 22 32 0 0 0.012319 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696263 48696263 + Nonsense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:48696263G>A ENST00000352832.5 + 31 5945 c.5573G>A c.(5572-5574)tGg>tAg p.W1858* CACNA1G_ENST00000515411.1_Nonsense_Mutation_p.W1874*|CACNA1G_ENST00000512389.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000514181.1_Nonsense_Mutation_p.W1867*|CACNA1G_ENST00000513964.1_Nonsense_Mutation_p.W1847*|CACNA1G_ENST00000514717.1_Nonsense_Mutation_p.W1835*|CACNA1G_ENST00000514079.1_Nonsense_Mutation_p.W1899*|CACNA1G_ENST00000513689.2_Nonsense_Mutation_p.W1847*|CACNA1G_ENST00000515765.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000507336.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000359106.5_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000442258.2_Nonsense_Mutation_p.W1851*|CACNA1G_ENST00000358244.5_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000354983.4_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000505165.1_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000429973.2_Nonsense_Mutation_p.W1874*|CACNA1G_ENST00000507896.1_Nonsense_Mutation_p.W1881*|CACNA1G_ENST00000360761.4_Nonsense_Mutation_p.W1869*|CACNA1G_ENST00000510366.1_Nonsense_Mutation_p.W1840*|CACNA1G_ENST00000507609.1_Nonsense_Mutation_p.W1885*|CACNA1G_ENST00000507510.2_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000503485.1_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000515165.1_Nonsense_Mutation_p.W1892*|CACNA1G_ENST00000510115.1_Nonsense_Mutation_p.W1858*|CACNA1G_ENST00000502264.1_Nonsense_Mutation_p.W1869* 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 1892 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) CCCTTCCTCTGGCCTGGGGTC 0.692000 19 34 0 0 0.007413 0 0 ZNF676 163223 broad.mit.edu 37 19 22364321 22364321 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:22364321C>T ENST00000397121.2 - 3 515 c.198G>A c.(196-198)atG>atA p.M66I NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.M66I(1) 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) TTCTCAATATCATTTTTTGGA 0.303000 12 46 0 0 0.010729 0 0 FASN 2194 broad.mit.edu 37 17 80043121 80043121 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:80043121G>A ENST00000306749.2 - 24 4498 c.4280C>T c.(4279-4281)tCt>tTt p.S1427F NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1427 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) GACCTTCAGAGACTCCACCCA 0.682000 19 45 0 0 0.007413 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626878 108626878 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:108626878C>T ENST00000264047.2 + 9 1580 c.1304C>T c.(1303-1305)gCc>gTc p.A435V SLC5A7_ENST00000409059.1_Missense_Mutation_p.A435V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.A330V NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 435 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity 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) ACCTATGGGGCCGTGGCAGGT 0.488000 24 55 0 0 0.005443 0 0 OR6M1 390261 broad.mit.edu 37 11 123676285 123676285 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:123676285C>T ENST00000309154.2 - 1 810 c.773G>A c.(772-774)aGa>aAa p.R258K NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 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;0.028) CTGATTGGGTCTCACATACAC 0.507000 22 35 0 0 0.012319 0 0 C14orf177 283598 broad.mit.edu 37 14 99183489 99183489 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:99183489G>A ENST00000325812.2 + 4 675 c.256G>A c.(256-258)Gaa>Aaa p.E86K NM_182560.2 NP_872366.2 Q52M58 CN177_HUMAN chromosome 14 open reading frame 177 86 endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) GAGACATGAAGAAACTTCTCC 0.448000 36 78 0 0 0.004878 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146326 10146326 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:10146326C>T ENST00000450660.2 - 2 349 c.133G>A c.(133-135)Gac>Aac p.D45N FANCD2OS_ENST00000524279.1_Missense_Mutation_p.D45N NM_001164839.1 NP_001158311.1 FANCD2 opposite strand ACTTCAAGGTCGGACGGTGTG 0.557000 95 128 0 0 0.014410 0 0 NFATC3 4775 broad.mit.edu 37 16 68156594 68156594 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:68156594C>T ENST00000349223.5 + 2 1032 c.808C>T c.(808-810)Ccc>Tcc p.P270S NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.P270S|NFATC3_ENST00000329524.4_Missense_Mutation_p.P270S|NFATC3_ENST00000346183.3_Missense_Mutation_p.P270S NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 270 3 X SP repeats. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding p.P270S(4) 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) GCCCACATCCCCCTGTGGGAA 0.582000 44 70 0 0 0.009718 0 0 KPRP 448834 broad.mit.edu 37 1 152732408 152732408 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152732408C>T ENST00000368773.1 + 2 402 c.344C>T c.(343-345)tCt>tTt p.S115F KPRP_ENST00000606109.1_Missense_Mutation_p.S115F NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 115 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGCCAATCTGAGGTGTCC 0.498000 248 418 0 0 0.014410 0 0 TKTL2 84076 broad.mit.edu 37 4 164393517 164393517 + Missense_Mutation SNP G G A rs145423814 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:164393517G>A ENST00000280605.3 - 1 1530 c.1370C>T c.(1369-1371)tCg>tTg p.S457L NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 457 cytoplasm metal ion binding|transketolase activity p.S457L(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGCTCTGTCGAGATGGCATC 0.463000 34 173 0 0 0.004289 0 0 TTN 7273 broad.mit.edu 37 2 179515540 179515540 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:179515540G>A ENST00000589042.1 - 209 39871 c.39647C>T c.(39646-39648)cCt>cTt p.P13216L TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11709L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10782L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11571 Ig-like 88. 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) TTCCAAGACAGGTTTCTTTGG 0.408000 3 6 0 0 0.009096 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820571 159820571 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:159820571G>A ENST00000497452.1 - 0 517 GGACCTGGTGGAAGTTGAGGC 0.348000 32 48 0 0 0.004289 0 0 DCHS2 54798 broad.mit.edu 37 4 155249265 155249265 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:155249265A>G ENST00000357232.3 - 12 2632 c.2633T>C c.(2632-2634)gTt>gCt p.V878A DCHS2_ENST00000339452.1_Missense_Mutation_p.V1333A NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 878 Cadherin 7. 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) TGAGTATGTAACTTCTGCATT 0.368000 27 67 0 0 0.005443 0 0 PRKCG 5582 broad.mit.edu 37 19 54403497 54403497 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:54403497A>T ENST00000263431.3 + 12 1574 c.1292A>T c.(1291-1293)tAt>tTt p.Y431F PRKCG_ENST00000542049.1_Missense_Mutation_p.Y318F|PRKCG_ENST00000540413.1_Missense_Mutation_p.Y431F NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 431 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GACCGCCTGTATTTCGTGATG 0.542000 38 49 0 0 0.008740 0 0 CCDC11 220136 broad.mit.edu 37 18 47777253 47777253 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:47777253C>T ENST00000398545.4 - 5 988 c.871G>A c.(871-873)Gcc>Acc p.A291T NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 291 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) TCTTGTAGGGCTTTTTGCAAA 0.418000 165 220 0 0 0.014410 0 0 RPL27 6155 broad.mit.edu 37 17 41152077 41152077 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr17:41152077C>T ENST00000589913.1 + 2 483 c.209C>T c.(208-210)tCt>tTt p.S70F RPL27_ENST00000589037.1_Missense_Mutation_p.S70F|RPL27_ENST00000590864.1_Missense_Mutation_p.S14F|RPL27_ENST00000253788.5_Missense_Mutation_p.S70F P61353 RL27_HUMAN ribosomal protein L27 70 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome structural constituent of ribosome cervix(1)|endometrium(1)|kidney(1) 3 Breast(137;0.000717)|Ovarian(249;0.0776) BRCA - Breast invasive adenocarcinoma(366;0.157) AAGATAAAATCTTTTGTGAAA 0.438000 35 79 0 0 0.003755 0 0 LRRC32 2615 broad.mit.edu 37 11 76371863 76371863 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:76371863G>A ENST00000407242.2 - 3 1016 c.774C>T c.(772-774)ttC>ttT p.F258F AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.F258F|LRRC32_ENST00000260061.5_Silent_p.F258F NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 258 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CCAGGTCGGGGAAATGGAGCA 0.622000 52 75 0 0 0.014410 0 0 TEK 7010 broad.mit.edu 37 9 27205036 27205036 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:27205036G>A ENST00000380036.4 + 14 2779 c.2337G>A c.(2335-2337)agG>agA p.R779R TEK_ENST00000406359.4_Silent_p.R736R|TEK_ENST00000519097.1_Silent_p.R632R NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 779 angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ATGTGCAAAGGAGAATGGCCC 0.463000 18 50 0 0 0.004990 0 0 TMEM63C 57156 broad.mit.edu 37 14 77722995 77722995 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:77722995G>A ENST00000298351.4 + 24 2491 c.2347G>A c.(2347-2349)Ggc>Agc p.G783S NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 783 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) TGGTCTGAGGGGCTTTGCGAG 0.622000 79 191 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9075783 9075783 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9075783G>A ENST00000397910.4 - 3 11866 c.11663C>T c.(11662-11664)tCt>tTt p.S3888F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3889 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 TTCTGAGACAGAATTCATCAT 0.458000 15 34 0 0 0.003163 0 0 F8 2157 broad.mit.edu 37 X 154185239 154185239 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:154185239C>T ENST00000360256.4 - 11 1945 c.1745G>A c.(1744-1746)gGa>gAa p.G582E NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 582 F5/8 type A 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.G582E(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CACCTGGTTTCCTCTTTGATC 0.418000 81 125 0 0 0.014410 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035968 36035968 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:36035968C>T ENST00000282507.3 - 7 1505 c.1404G>A c.(1402-1404)gcG>gcA p.A468A UGT3A2_ENST00000545528.1_Silent_p.A166A|UGT3A2_ENST00000513300.1_Silent_p.A434A NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 468 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGAGGTGCGTCGCGCCCCCTG 0.637000 12 42 0 0 0.010729 0 0 PRKAA2 5563 broad.mit.edu 37 1 57170073 57170073 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:57170073C>T ENST00000371244.4 + 7 1284 c.1218C>T c.(1216-1218)atC>atT p.I406I NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 406 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 ATCTTGGAATCCGAAGTCAGA 0.408000 33 95 0 0 0.012213 0 0 PIK3R2 5296 broad.mit.edu 37 19 18273314 18273314 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:18273314C>T ENST00000593731.1 + 9 1667 c.1107C>T c.(1105-1107)ctC>ctT p.L369L PIK3R2_ENST00000222254.7_Silent_p.L369L O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 369 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 CGCTGACCCTCAGGTGGGGGC 0.587000 44 48 0 0 0.013114 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32926166 32926166 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:32926166C>T ENST00000361627.3 + 10 1990 c.1268C>T c.(1267-1269)cCt>cTt p.P423L ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.P234L|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.P395L|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.P423L|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.P234L NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 423 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TGCTTTTCTCCTAAAATCAGC 0.338000 6 26 0 0 0.001984 0 0 PMFBP1 83449 broad.mit.edu 37 16 72166731 72166731 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:72166731C>T ENST00000537465.1 - 10 1521 c.1363G>A c.(1363-1365)Gag>Aag p.E455K PMFBP1_ENST00000355636.6_Missense_Mutation_p.E310K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E455K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 455 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CACTCCGCCTCCTTGGACTTG 0.577000 34 156 0 0 0.010818 0 0 SARS 6301 broad.mit.edu 37 1 109777924 109777924 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:109777924C>T ENST00000369923.4 + 7 851 c.840C>T c.(838-840)caC>caT p.H280H SARS_ENST00000234677.2_Silent_p.H280H P49591 SYSC_HUMAN seryl-tRNA synthetase 280 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) CTGCCCTGCACCGGGATGAGT 0.582000 381 483 0 0 0.014410 0 0 WISP1 8840 broad.mit.edu 37 8 134239698 134239698 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:134239698G>A ENST00000250160.6 + 5 955 c.849G>A c.(847-849)atG>atA p.M283I WISP1_ENST00000517423.1_Missense_Mutation_p.E132K|WISP1_ENST00000220856.6_Missense_Mutation_p.M196I|WISP1_ENST00000519433.1_Missense_Mutation_p.M38I|WISP1_ENST00000377863.2_Missense_Mutation_p.M111I NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 283 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGGCATCCATGAACTTCACAC 0.517000 23 103 0 0 0.003954 0 0 NUGGC 389643 broad.mit.edu 37 8 27903173 27903173 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:27903173G>A ENST00000413272.2 - 12 1459 c.1317C>T c.(1315-1317)atC>atT p.I439I NUGGC_ENST00000341513.6_Silent_p.I439I NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated TTAACTTAGGGATTTCTGGAA 0.418000 55 144 0 0 0.014410 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687295 27687295 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:27687295G>A ENST00000438700.3 - 4 2349 c.2232C>T c.(2230-2232)atC>atT p.I744I NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 744 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GGGAAGAAATGATTTCATTTG 0.308000 11 19 0 0 0.013537 0 0 C12orf40 283461 broad.mit.edu 37 12 40037717 40037717 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:40037717C>T ENST00000324616.5 + 3 354 c.200C>T c.(199-201)cCt>cTt p.P67L C12orf40_ENST00000405531.3_Missense_Mutation_p.P67L|C12orf40_ENST00000398716.1_5'UTR NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 67 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 AAGAAAATTCCTGGTAAGTCA 0.323000 11 40 0 0 0.001855 0 0 NDNF 79625 broad.mit.edu 37 4 121958281 121958281 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:121958281G>A ENST00000379692.4 - 4 1371 c.845C>T c.(844-846)tCc>tTc p.S282F NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 282 Fibronectin type-III 1. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CTTGGGCCTGGAGTAGACATG 0.443000 21 49 0 0 0.012319 0 0 LTBP2 4053 broad.mit.edu 37 14 75017892 75017892 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:75017892G>A ENST00000261978.4 - 7 1947 c.1561C>T c.(1561-1563)Cac>Tac p.H521Y LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.H521Y NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 521 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) CAGAGGCTGTGGCCAGGGCTG 0.711000 18 66 0 0 0.008871 0 0 IRF8 3394 broad.mit.edu 37 16 85952285 85952285 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:85952285C>T ENST00000268638.5 + 7 1286 c.864C>T c.(862-864)ttC>ttT p.F288F IRF8_ENST00000562492.1_Silent_p.F84F NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 288 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) AGGGCGTGTTCGTCAAGCGGC 0.682000 21 40 0 0 0.010504 0 0 GABRQ 55879 broad.mit.edu 37 X 151820122 151820122 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:151820122G>A ENST00000370306.2 + 8 1055 c.1035G>A c.(1033-1035)gaG>gaA p.E345E NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 345 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CCTTGCTGGAGTATGTCTACA 0.512000 80 141 0 0 0.014410 0 0 SRRM2 23524 broad.mit.edu 37 16 2817055 2817055 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:2817055C>T ENST00000301740.8 + 11 7075 c.6526C>T c.(6526-6528)Cat>Tat p.H2176Y NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2176 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 GCCAGAAAATCATGCTCAGTC 0.567000 40 104 0 0 0.006230 0 0 ABCA4 24 broad.mit.edu 37 1 94474416 94474416 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:94474416G>A ENST00000370225.3 - 41 5812 c.5726C>T c.(5725-5727)cCc>cTc p.P1909L ABCA4_ENST00000535881.1_Missense_Mutation_p.P28L|ABCA4_ENST00000536513.1_Missense_Mutation_p.P179L|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1909 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) CTCCTTAGTGGGCTCGGCAAT 0.458000 137 144 0 0 0.014410 0 0 SPTA1 6708 broad.mit.edu 37 1 158605815 158605815 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:158605815C>T ENST00000368148.3 - 38 5500 c.5320G>A c.(5320-5322)Gat>Aat p.D1774N SPTA1_ENST00000368147.3_Missense_Mutation_p.D1774N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1774 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) TCTGCCATATCCAGCACATTC 0.498000 60 220 0 0 0.014410 0 0 TEKT4 150483 broad.mit.edu 37 2 95540641 95540641 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:95540641C>T ENST00000295201.4 + 4 971 c.834C>T c.(832-834)tcC>tcT p.S278S AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 278 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GCGACACCTCCGAGGACCTGC 0.682000 15 23 0 0 0.004007 0 0 CEACAM20 125931 broad.mit.edu 37 19 45021274 45021274 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:45021274G>A ENST00000454753.1 - 0 1320 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ATGTGCACTTGGTCAGGACCA 0.552000 44 67 0 0 0.014410 0 0 MSH2 4436 broad.mit.edu 37 2 47703666 47703666 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:47703666C>T ENST00000406134.1 + 13 2228 c.2166C>T c.(2164-2166)gtC>gtT p.V722V MSH2_ENST00000543555.1_Silent_p.V656V|MSH2_ENST00000233146.2_Silent_p.V722V P43246 MSH2_HUMAN mutS homolog 2 722 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGAAAGGAGTCTCCACGTTCA 0.473000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 33 109 0 0 0.004289 0 0 KCTD19 146212 broad.mit.edu 37 16 67327982 67327982 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:67327982C>T ENST00000304372.5 - 12 1738 c.1683G>A c.(1681-1683)atG>atA p.M561I NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 561 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CAGCCTCATCCATCTGGTTGG 0.567000 55 297 0 0 0.014410 0 0 KIF16B 55614 broad.mit.edu 37 20 16407881 16407881 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:16407881G>A ENST00000354981.2 - 15 1637 c.1480C>T c.(1480-1482)Cat>Tat p.H494Y KIF16B_ENST00000355755.3_Missense_Mutation_p.H494Y|KIF16B_ENST00000408042.1_Missense_Mutation_p.H494Y|KIF16B_ENST00000378003.2_5'UTR NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 494 FHA. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCAAGGCCATGAAGAACTAAA 0.398000 24 41 0 0 0.004656 0 0 TNFRSF8 943 broad.mit.edu 37 1 12144532 12144532 + Silent SNP C C T rs146787215 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:12144532C>T ENST00000263932.2 + 2 297 c.75C>T c.(73-75)ttC>ttT p.F25F TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 25 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) ATCGACCCTTCGAGGACACCT 0.612000 54 116 0 0 0.014410 0 0 EGFL6 25975 broad.mit.edu 37 X 13588040 13588040 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:13588040C>T ENST00000361306.1 + 1 317 c.60C>T c.(58-60)ttC>ttT p.F20F EGFL6_ENST00000380602.3_Silent_p.F20F NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 20 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CAGGTGGTTTCGGGAACGCGG 0.692000 25 43 0 0 0.006320 0 0 TOX2 84969 broad.mit.edu 37 20 42694607 42694607 + Silent SNP C C T rs141373012 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:42694607C>T ENST00000358131.5 + 6 1370 c.1162C>T c.(1162-1164)Ctg>Ttg p.L388L TOX2_ENST00000372999.1_Silent_p.L364L|TOX2_ENST00000423191.1_Silent_p.L364L|TOX2_ENST00000435864.2_Silent_p.L284L|TOX2_ENST00000341197.3_Silent_p.L406L NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 388 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCACCAGCAGCTGTCACTGCC 0.716000 29 58 0 0 0.007291 0 0 LRP1B 53353 broad.mit.edu 37 2 141250219 141250219 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:141250219C>T ENST00000389484.3 - 57 10049 c.9078G>A c.(9076-9078)agG>agA p.R3026R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3026 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) TGCTAATTTTCCTTATCTCAT 0.353000 TSP Lung(27;0.18) 39 93 0 0 0.014410 0 0 VPREB1 7441 broad.mit.edu 37 22 22599708 22599708 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:22599708G>A ENST00000403807.3 + 2 536 c.397G>A c.(397-399)Gaa>Aaa p.E133K VPREB1_ENST00000302273.2_Missense_Mutation_p.E132K P12018 VPREB_HUMAN pre-B lymphocyte 1 133 immune response extracellular region antigen binding|protein binding large_intestine(1)|liver(1)|lung(6)|skin(1) 9 all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155) all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52) READ - Rectum adenocarcinoma(21;0.145) ggagtgggaggaagaaatgga 0.577000 8 25 0 0 0.004482 0 0 PI15 51050 broad.mit.edu 37 8 75757424 75757424 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:75757424C>T ENST00000260113.2 + 4 633 c.454C>T c.(454-456)Cca>Tca p.P152S RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.P152S|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 152 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TTATGCTTTTCCATATCCCCA 0.388000 31 107 0 0 0.012213 0 0 LOC440040 440040 broad.mit.edu 37 11 49831528 49831528 + RNA SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:49831528A>T ENST00000527477.1 + 0 1753 TGGAAAGGGAAGAATCAGAAT 0.458000 17 38 0 0 0.004990 0 0 IL31RA 133396 broad.mit.edu 37 5 55212752 55212752 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:55212752C>T ENST00000447346.2 + 15 2164 c.2099C>T c.(2098-2100)tCc>tTc p.S700F IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.S558F|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 668 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CCCAGAAAATCCCAATACCTA 0.512000 28 57 0 0 0.006320 0 0 ROR2 4920 broad.mit.edu 37 9 94538029 94538029 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:94538029G>A ENST00000375708.3 - 2 367 c.169C>T c.(169-171)Ctg>Ttg p.L57L ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 57 Ig-like C2-type. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCACCTTTCAGAGTTGGAATC 0.552000 OREG0019308 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 56 0 0 0.008871 0 0 UNC79 57578 broad.mit.edu 37 14 94067104 94067104 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:94067104C>T ENST00000553484.1 + 25 3716 c.3562C>T c.(3562-3564)Cct>Tct p.P1188S UNC79_ENST00000555664.1_Missense_Mutation_p.P1188S|UNC79_ENST00000393151.2_Missense_Mutation_p.P1188S|UNC79_ENST00000256339.4_Missense_Mutation_p.P1011S Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1188 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 CAAGGAATTTCCTTTTCCTAC 0.403000 17 52 0 0 0.007413 0 0 CRYBG3 131544 broad.mit.edu 37 3 97631107 97631107 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:97631107G>A ENST00000182096.4 + 13 2321 c.2257G>A c.(2257-2259)Gtt>Att p.V753I NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TTCTTTTAAAGTTCTTCGAGG 0.338000 38 58 0 0 0.004878 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891414 148891414 + Silent SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:148891414T>C ENST00000261798.5 - 6 1050 c.618A>G c.(616-618)tcA>tcG p.S206S CSNK1A1_ENST00000515435.1_Silent_p.S145S|CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000504676.1_Silent_p.S117S NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 206 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CATATCCTAATGATTCCATGT 0.338000 5 89 0 0 0.001168 0 0 GDF10 2662 broad.mit.edu 37 10 48428863 48428863 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:48428863C>T ENST00000224605.2 - 2 1288 c.1023G>A c.(1021-1023)agG>agA p.R341R NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 341 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 GGCCCTTCTTCCTGCGGTCTT 0.667000 24 33 0 0 0.014323 0 0 RARRES2 5919 broad.mit.edu 37 7 150037191 150037191 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:150037191C>T ENST00000466675.1 - 2 1310 c.277G>A c.(277-279)Ggg>Agg p.G93R RARRES2_ENST00000482669.1_Missense_Mutation_p.G93R|RARRES2_ENST00000223271.3_Missense_Mutation_p.G93R Q99969 RARR2_HUMAN retinoic acid receptor responder (tazarotene induced) 2 93 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) TCACTCACCCCATTGGGCCTG 0.567000 348 951 0 0 0.014410 0 0 SP140 11262 broad.mit.edu 37 2 231112769 231112769 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:231112769G>A ENST00000392045.3 + 8 995 c.881G>A c.(880-882)gGa>gAa p.G294E SP140_ENST00000420434.3_Missense_Mutation_p.G294E|SP140_ENST00000417495.3_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.G268E|SP140_ENST00000486687.2_Intron|SP140_ENST00000350136.5_Intron NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 294 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) AGTCCAGAGGGAAGAGACAAA 0.512000 11 37 0 0 0.013537 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65715081 65715081 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr11:65715081G>A ENST00000532620.1 + 0 1016 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 GGAGAGCACAGGACTCCCTGC 0.622000 26 47 0 0 0.003954 0 0 ASXL3 80816 broad.mit.edu 37 18 31323950 31323950 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr18:31323950G>A ENST00000269197.5 + 12 4138 c.4138G>A c.(4138-4140)Gaa>Aaa p.E1380K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACCTGGGAGTGAAGAACAGGC 0.507000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 92 0 0 0.014410 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112998653 112998653 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:112998653C>T ENST00000271277.6 + 6 764 c.539C>T c.(538-540)tCc>tTc p.S180F NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 180 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCTCTCATCCATGCTAGTG 0.498000 73 67 0 0 0.014410 0 0 TREML4 285852 broad.mit.edu 37 6 41204270 41204270 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:41204270C>T ENST00000341495.2 + 5 657 c.553C>T c.(553-555)Ctg>Ttg p.L185L TREML4_ENST00000448827.2_Silent_p.L185L NM_198153.2 NP_937796.1 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid cells-like 4 185 extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.196) CCCCAGATTCCTGGTCTTGGT 0.592000 35 68 0 0 0.007835 0 0 RARRES1 5918 broad.mit.edu 37 3 158428691 158428691 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:158428691C>T ENST00000237696.5 - 3 651 c.371G>A c.(370-372)gGg>gAg p.G124E RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Missense_Mutation_p.G124E NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 124 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) AGAACATTTCCCCAAACGTCC 0.443000 128 158 0 0 0.014410 0 0 ABHD2 11057 broad.mit.edu 37 15 89736470 89736470 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:89736470A>C ENST00000352732.5 + 10 1521 c.1001A>C c.(1000-1002)tAt>tCt p.Y334S ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334S|ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334S NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 334 integral to membrane carboxylesterase activity p.Y334C(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) TTGCAGATTTATGTTCCTCTC 0.408000 44 89 0 0 0.014410 0 0 BRINP1 1620 broad.mit.edu 37 9 121929407 121929407 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:121929407C>T ENST00000265922.3 - 8 2702 c.2241G>A c.(2239-2241)acG>acA p.T747T DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 747 cell cycle arrest|cell death cytoplasm protein binding p.T747T(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TGAGGATCTCCGTGTTGTACA 0.512000 107 286 0 0 0.014410 0 0 PCNX 22990 broad.mit.edu 37 14 71443822 71443822 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:71443822C>T ENST00000304743.2 + 6 1214 c.768C>T c.(766-768)tcC>tcT p.S256S PCNX_ENST00000439984.3_Silent_p.S256S|PCNX_ENST00000238570.5_Silent_p.S256S NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 256 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) AGTCTCTGTCCAGCGCCTGTG 0.502000 24 54 0 0 0.002780 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464375 141464375 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:141464375C>T ENST00000247879.2 + 1 479 c.417C>T c.(415-417)ctC>ctT p.L139L SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 139 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) GTGCACTGCTCTTATCCTGTG 0.473000 44 99 0 0 0.009718 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2016688 2016688 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:2016688G>A ENST00000382722.5 - 6 1061 c.699C>T c.(697-699)gtC>gtT p.V233V CACNA2D4_ENST00000585732.1_Silent_p.V233V|CACNA2D4_ENST00000587995.1_Silent_p.V233V|CACNA2D4_ENST00000588077.1_Silent_p.V169V|CACNA2D4_ENST00000585708.1_Silent_p.V169V|CACNA2D4_ENST00000586184.1_Silent_p.V233V NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 233 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) TCTCCACGAAGACAGCATTCA 0.438000 12 41 0 0 0.013537 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90534129 90534129 + RNA SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:90534129G>A ENST00000602681.1 + 0 875 GGGCAGAGAGGGAGAGCCGGT 0.607000 23 43 0 0 0.012319 0 0 SEPT3 55964 broad.mit.edu 37 22 42377782 42377782 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:42377782C>T ENST00000396425.3 + 2 275 c.144C>T c.(142-144)atC>atT p.I48I SEPT3_ENST00000328414.8_Silent_p.I48I|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000396426.3_Silent_p.I48I|CTA-250D10.19_ENST00000424613.1_RNA NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 48 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 ACACCATCATCGAGCAGATGC 0.597000 38 59 0 0 0.004878 0 0 PYGO2 90780 broad.mit.edu 37 1 154932008 154932008 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:154932008G>A ENST00000368457.2 - 3 639 c.468C>T c.(466-468)ccC>ccT p.P156P PYGO2_ENST00000368456.1_Silent_p.P119P NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 156 Pro-rich. Wnt receptor signaling pathway nucleus protein binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1) 10 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTTGCCTGGGGGTGGGTAGC 0.637000 85 140 0 0 0.014410 0 0 SYT16 83851 broad.mit.edu 37 14 62547948 62547948 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:62547948G>A ENST00000430451.2 + 4 1587 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 464 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CCCAGAAGGGGAAATGAAAGT 0.498000 12 27 0 0 0.001855 0 0 B3GNT3 10331 broad.mit.edu 37 19 17918894 17918894 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:17918894C>T ENST00000318683.6 + 2 425 c.278C>T c.(277-279)cCc>cTc p.P93L B3GNT3_ENST00000595387.1_Missense_Mutation_p.P93L NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 93 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CGCCACTTTCCCCTGCTGCAG 0.632000 44 60 0 0 0.014410 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059329 152059329 + Missense_Mutation SNP C C T rs114173361 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:152059329C>T ENST00000368806.1 - 3 893 c.829G>A c.(829-831)Gaa>Aaa p.E277K NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 277 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTTCTAACTTCCTGATCTTCA 0.433000 123 221 0 0 0.014410 0 0 MAP3K13 9175 broad.mit.edu 37 3 185155255 185155255 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr3:185155255G>A ENST00000265026.3 + 3 830 c.496G>A c.(496-498)Gag>Aag p.E166K MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E22K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E22K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E166K NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 166 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGTGCCATTTGAGGAGATCTC 0.512000 83 120 0 0 0.014410 0 0 HYDIN 54768 broad.mit.edu 37 16 70841804 70841804 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:70841804G>A ENST00000393567.2 - 86 15195 c.15045C>T c.(15043-15045)atC>atT p.I5015I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5015 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) CAAAGAGGGGGATGATATACT 0.542000 36 101 0 0 0.006999 0 0 PIM3 415116 broad.mit.edu 37 22 50355389 50355389 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:50355389C>T ENST00000360612.4 + 4 981 c.546C>T c.(544-546)tcC>tcT p.S182S NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 182 Protein kinase. cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) ACCTGCGCTCCGGAGAGCTCA 0.652000 31 49 0 0 0.010818 0 0 TDRKH 11022 broad.mit.edu 37 1 151752454 151752454 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:151752454G>A ENST00000368822.1 - 4 1027 c.394C>T c.(394-396)Ccc>Tcc p.P132S TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000458431.2_Missense_Mutation_p.P132S|TDRKH_ENST00000368823.1_Missense_Mutation_p.P128S|TDRKH_ENST00000368824.3_Missense_Mutation_p.P132S|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Missense_Mutation_p.P132S Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 132 KH 2. 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) GATCTCTGGGGAACTGAAAGC 0.488000 57 96 0 0 0.014410 0 0 DOCK7 85440 broad.mit.edu 37 1 63021546 63021546 + Missense_Mutation SNP A A G TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:63021546A>G ENST00000251157.5 - 21 2579 c.2546T>C c.(2545-2547)aTt>aCt p.I849T DOCK7_ENST00000340370.5_Missense_Mutation_p.I849T NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 849 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 AACATAATGAATATATGATGC 0.343000 41 87 0 0 0.007835 0 0 OR10G3 26533 broad.mit.edu 37 14 22038433 22038433 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:22038433C>T ENST00000303532.1 - 1 442 c.443G>A c.(442-444)gGa>gAa p.G148E NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CATCCAGGCTCCAGCCACAAG 0.572000 36 77 0 0 0.004289 0 0 MXRA5 25878 broad.mit.edu 37 X 3239853 3239853 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:3239853A>C ENST00000217939.6 - 5 4027 c.3873T>G c.(3871-3873)gaT>gaG p.D1291E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1291 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) AATCTAAGGAATCATAAGGGC 0.378000 83 131 0 0 0.014410 0 0 ZNF728 388523 broad.mit.edu 37 19 23159380 23159380 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:23159380C>T ENST00000594710.1 - 4 904 c.759G>A c.(757-759)gaG>gaA p.E253E NM_001267716.1 NP_001254645.1 zinc finger protein 728 TGTAATGTTTCTCTCCAGTAT 0.403000 9 45 0 0 0.004482 0 0 PARP10 84875 broad.mit.edu 37 8 145059155 145059155 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:145059155G>A ENST00000313028.7 - 5 1109 c.1015C>T c.(1015-1017)Ccc>Tcc p.P339S PARP10_ENST00000524918.1_Missense_Mutation_p.P339S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P351S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 339 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GACCCCATGGGACCTGTCCTC 0.612000 46 156 0 0 0.014410 0 0 CDH23 64072 broad.mit.edu 37 10 73485149 73485149 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:73485149C>T ENST00000224721.6 + 29 3471 c.3466C>T c.(3466-3468)Cgg>Tgg p.R1156W C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1151 Cadherin 11. 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 CAACAACTTCCGGATCCATGT 0.637000 30 54 0 0 0.013726 0 0 CFTR 1080 broad.mit.edu 37 7 117232711 117232711 + Splice_Site SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:117232711G>A ENST00000003084.6 + 14 2622 c.2490_splice c.e14+1 p.K830_splice CFTR_ENST00000454343.1_Splice_Site_p.K769_splice NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 830 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) AAGACTTAAAGGTAGGTATAC 0.363000 Cystic Fibrosis 25 72 0 0 0.006320 0 0 GRID1 2894 broad.mit.edu 37 10 87966247 87966247 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:87966247G>A ENST00000327946.7 - 3 479 c.394C>T c.(394-396)Ccc>Tcc p.P132S NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 132 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) TCGGGGCTGGGGTTCAGGTGG 0.632000 Multiple Myeloma(13;0.14) 38 56 0 0 0.010771 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502889 140502889 + Missense_Mutation SNP A A C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr5:140502889A>C ENST00000194152.1 + 1 1309 c.1309A>C c.(1309-1311)Acc>Ccc p.T437P NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 437 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGAACATAACCGTGCAGGT 0.592000 80 123 0 0 0.014410 0 0 BRINP2 57795 broad.mit.edu 37 1 177249596 177249596 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr1:177249596G>A ENST00000361539.4 + 8 1596 c.1284G>A c.(1282-1284)ggG>ggA p.G428G FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 428 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 TCTACTGTGGGGAAAGCACCT 0.542000 81 100 0 0 0.014410 0 0 ANKS1B 56899 broad.mit.edu 37 12 99223110 99223110 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:99223110G>A ENST00000547776.2 - 19 2907 c.2908C>T c.(2908-2910)Cct>Tct p.P970S ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P970S|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P196S|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P196S|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000341752.7_5'UTR NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 970 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) AACTGAGGAGGAGTGTGATTA 0.443000 20 81 0 0 0.010504 0 0 OR4K5 79317 broad.mit.edu 37 14 20388940 20388940 + Missense_Mutation SNP A A T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:20388940A>T ENST00000315915.4 + 1 200 c.175A>T c.(175-177)Atg>Ttg p.M59L NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCACTCCCCTATGTACTTTCT 0.408000 37 203 0 0 0.003271 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42302335 42302335 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:42302335C>T ENST00000413860.2 - 1 110 c.111G>A c.(109-111)ggG>ggA p.G37G PLA2G4E_ENST00000399518.3_Intron Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 0 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CACTGGCCCCCCCACCCCGGG 0.592000 44 90 0 0 0.011902 0 0 COL6A2 1292 broad.mit.edu 37 21 47531470 47531470 + Missense_Mutation SNP C C T rs150057026 TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr21:47531470C>T ENST00000300527.4 + 2 184 c.80C>T c.(79-81)tCg>tTg p.S27L COL6A2_ENST00000397763.1_Missense_Mutation_p.S27L|COL6A2_ENST00000310645.5_Missense_Mutation_p.S27L|COL6A2_ENST00000409416.1_Missense_Mutation_p.S27L|COL6A2_ENST00000357838.4_Missense_Mutation_p.S27L NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 27 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GAGGTCATCTCGCCGGACACT 0.667000 39 91 0 0 0.013114 0 0 COL25A1 84570 broad.mit.edu 37 4 109780827 109780827 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr4:109780827G>A ENST00000399132.1 - 24 1835 c.1305C>T c.(1303-1305)ctC>ctT p.L435L COL25A1_ENST00000399126.1_Silent_p.L435L|COL25A1_ENST00000399127.1_Silent_p.L416L NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 435 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AGGCTTCGTGGAGGTTGCCGT 0.488000 11 22 0 0 0.008291 0 0 HYDIN 54768 broad.mit.edu 37 16 71220705 71220705 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr16:71220705G>A ENST00000393567.2 - 2 244 c.94C>T c.(94-96)Ctg>Ttg p.L32L HYDIN_ENST00000538248.1_Silent_p.L59L|HYDIN_ENST00000541601.1_Silent_p.L49L|HYDIN_ENST00000321489.5_Silent_p.L32L|HYDIN_ENST00000288168.10_Silent_p.L49L|HYDIN_ENST00000393550.2_Silent_p.L32L|HYDIN_ENST00000448691.1_Silent_p.L32L|HYDIN_ENST00000448089.2_Silent_p.L32L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 32 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) TTTGGACTCAGGGGTGGCAAA 0.398000 11 39 0 0 0.013537 0 0 ABCB6 10058 broad.mit.edu 37 2 220081123 220081123 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:220081123G>A ENST00000265316.3 - 4 1249 c.933C>T c.(931-933)ttC>ttT p.F311F ABCB6_ENST00000439002.2_Silent_p.F265F NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 311 ABC transmembrane type-1. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAACTTGAGGAAGACGTAAC 0.562000 26 78 0 0 0.008361 0 0 OR13J1 392309 broad.mit.edu 37 9 35869520 35869520 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr9:35869520C>T ENST00000377981.2 - 1 941 c.879G>A c.(877-879)agG>agA p.R293R NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) CCTCCTTGTTCCTCAGGCTGT 0.592000 33 79 0 0 0.013726 0 0 KRT5 3852 broad.mit.edu 37 12 52911738 52911738 + Silent SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:52911738C>T ENST00000252242.4 - 4 1260 c.870G>A c.(868-870)gaG>gaA p.E290E NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 290 Coil 1B.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CAACCTTGGCCTCCAGCTCCA 0.458000 68 197 0 0 0.014410 0 0 EYA2 2139 broad.mit.edu 37 20 45717957 45717957 + Silent SNP G G A rs143429707 byFrequency TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr20:45717957G>A ENST00000327619.5 + 8 1115 c.741G>A c.(739-741)ggG>ggA p.G247G EYA2_ENST00000317304.6_Silent_p.G247G|EYA2_ENST00000357410.3_Silent_p.G247G NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 247 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCTCCGACGGGAAGCTCCGAG 0.577000 57 125 0 0 0.014410 0 0 SLC26A7 115111 broad.mit.edu 37 8 92346565 92346565 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:92346565G>A ENST00000276609.3 + 6 924 c.685G>A c.(685-687)Gaa>Aaa p.E229K SLC26A7_ENST00000523719.1_Missense_Mutation_p.E229K|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E229K NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 229 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 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) TGTGCGACTGGAAGCATTGCT 0.333000 17 38 0 0 0.004990 0 0 ZNF239 8187 broad.mit.edu 37 10 44052351 44052351 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:44052351G>A ENST00000306006.6 - 2 1829 c.1177C>T c.(1177-1179)Cat>Tat p.H393Y ZNF239_ENST00000426961.1_Missense_Mutation_p.H393Y|ZNF239_ENST00000374446.2_Missense_Mutation_p.H393Y|ZNF239_ENST00000535642.1_Missense_Mutation_p.H393Y NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ACTCTGAGATGGATGCGAAGA 0.517000 28 37 0 0 0.012213 0 0 DMBT1 1755 broad.mit.edu 37 10 124358388 124358388 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:124358388G>A ENST00000338354.3 + 26 3161 c.3055G>A c.(3055-3057)Gat>Aat p.D1019N DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D1019N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1019 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.D1019N(3) 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) CACCGTGTGCGATGACAGCTG 0.602000 246 364 0 0 0.014410 0 0 CIT 11113 broad.mit.edu 37 12 120288023 120288023 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:120288023G>A ENST00000392521.2 - 5 526 c.471C>T c.(469-471)atC>atT p.I157I CIT_ENST00000261833.7_Silent_p.I157I NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 157 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GTAATTGGGGGATCCACGGGC 0.408000 116 355 0 0 0.014410 0 0 PXDN 7837 broad.mit.edu 37 2 1651987 1651991 + Frame_Shift_Del DEL TCAGG TCAGG - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:1651987_1651991delTCAGG ENST00000252804.4 - 17 3611_3615 c.3561_3565delCCTGA c.(3559-3567)gaaafs p.DLK1187fs NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1187 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ATCTCATTTTTCAGGTCCTCGAACG 0.561 21 394 --- --- --- --- WDR35 57539 broad.mit.edu 37 2 20178521 20178521 + Frame_Shift_Del DEL A A - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:20178521delA ENST00000345530.3 - 5 542 c.427delT c.(427-429)cafs p.S143fs WDR35_ENST00000281405.4_Frame_Shift_Del_p.S143fs NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 143 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATCCACTGAACCAACTATC 0.373 22 179 --- --- --- --- HEATR5B 54497 broad.mit.edu 37 2 37235932 37235932 + Frame_Shift_Del DEL A A - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr2:37235932delA ENST00000233099.5 - 28 4439 c.4344delT c.(4342-4344)atfs p.I1448fs HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.I1448fs NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1448 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CAGTATTTTTAATTGCTCTTT 0.363 90 205 --- --- --- --- ENPP1 5167 broad.mit.edu 37 6 132204842 132204843 + Frame_Shift_Del DEL AA AA - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr6:132204842_132204843delAA ENST00000360971.2 + 22 2259_2260 c.2239_2240delAA c.(2239-2241)afs p.K747fs NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 747 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) AGAACTAAATAAAAATTCAAGT 0.277 33 59 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98551016 98551016 + Frame_Shift_Del DEL T T - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr7:98551016delT ENST00000359863.4 + 39 5878 c.5669delT c.(5668-5670)atfs p.I1891fs TRRAP_ENST00000355540.3_Frame_Shift_Del_p.I1873fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.I1872fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1891 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) CTGGCGCACATTATCGCCAAA 0.587 44 93 --- --- --- --- LONRF1 91694 broad.mit.edu 37 8 12598449 12598449 + Frame_Shift_Del DEL T T - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr8:12598449delT ENST00000398246.3 - 3 966 c.897delA c.(895-897)ttfs p.L299fs LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 299 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) GAAAGAGTTGTAAGGCATCAC 0.368 37 149 --- --- --- --- NRG3 10718 broad.mit.edu 37 10 83635829 83635829 + Frame_Shift_Del DEL T T - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr10:83635829delT ENST00000404547.1 + 1 733 c.733delT c.(733-735)ctfs p.S245fs NRG3_ENST00000372141.2_Frame_Shift_Del_p.S245fs P56975 NRG3_HUMAN neuregulin 3 245 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) CTGGACCCTGTCTCCCTTTCA 0.557 22 18 --- --- --- --- SLC4A8 9498 broad.mit.edu 37 12 51851189 51851189 + Frame_Shift_Del DEL T T - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:51851189delT ENST00000453097.2 + 6 846 c.629delT c.(628-630)gtfs p.V210fs SLC4A8_ENST00000535225.2_Frame_Shift_Del_p.V157fs|SLC4A8_ENST00000514353.3_Frame_Shift_Del_p.V157fs|SLC4A8_ENST00000358657.3_Frame_Shift_Del_p.V237fs|SLC4A8_ENST00000394856.1_Frame_Shift_Del_p.V157fs NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 210 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) AGCATGAGGGTTAAAGTGCGG 0.463 31 76 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125441343 125441343 + Frame_Shift_Del DEL G G - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr12:125441343delG ENST00000308736.2 - 18 2445 c.2347delC c.(2347-2349)gcfs p.R783fs DHX37_ENST00000544745.1_Frame_Shift_Del_p.R570fs NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 783 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TTAGCGTAGCGGGGTGCCACG 0.632 60 222 --- --- --- --- CPSF2 53981 broad.mit.edu 37 14 92625548 92625549 + Frame_Shift_Del DEL TC TC - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr14:92625548_92625549delTC ENST00000298875.4 + 14 2328_2329 c.2043_2044delTC c.(2041-2046)agtgfs p.SL681fs NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 681 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) CCATGAAAAGTCTGTTCGGAGA 0.411 21 84 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 335 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9073231 9073232 + Frame_Shift_Ins INS - - A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:9073231_9073232insA ENST00000397910.4 - 3 14417_14418 c.14214_14215insT c.(14212-14217)ttaggafs p.LG4738fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4740 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 GCTTCATCCTGAAAGGGAGGGT 0.505 46 106 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 7 291 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50718203 50718223 + Splice_Site DEL GTCCTGGAGTAACACGGAGGG GTCCTGGAGTAACACGGAGGG - TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chr22:50718203_50718223delGTCCTGGAGTAACACGGAGGG ENST00000449103.1 - 27 4383_4385 c.4242_splice c.e27-1 p.1415_splice PLXNB2_ENST00000359337.4_Splice_Site_p.1415_splice O15031 PLXB2_HUMAN plexin B2 1415 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) CCCCGGCACTGTCCTGGAGTAACACGGAGGGGAGGCTGGGA 0.629 69 364 --- --- --- --- HDHD1 8226 broad.mit.edu 37 X 7066113 7066114 + Frame_Shift_Ins INS - - A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7f7ab2b-6434-4a48-8a1d-80ba13724a9d d006b14a-f474-4180-a3c1-41608c08b6d7 g.chrX:7066113_7066114insA ENST00000381077.5 - 1 117_118 c.41_42insT c.(40-42)gatfs p.D14fs HDHD1_ENST00000540122.1_Frame_Shift_Ins_p.D14fs|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Frame_Shift_Ins_p.D14fs|HDHD1_ENST00000424830.2_Frame_Shift_Ins_p.D14fs NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 14 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 GTCCGTCCATGTCAAAGATGAG 0.713 2 4 --- --- --- ---