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 GPC5 2262 broad.mit.edu 37 13 92560304 92560304 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:92560304T>C ENST00000377067.3 + 6 1766 c.1394T>C c.(1393-1395)gTt>gCt p.V465A NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 465 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) CTGAAGCATGTTGTTCAGGTA 0.328000 13 43 0 0 0.000422831 0 0 MYH4 4622 broad.mit.edu 37 17 10355326 10355326 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10355326C>T ENST00000255381.2 - 27 3780 c.3670G>A c.(3670-3672)Gaa>Aaa p.E1224K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1224 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 TCACTCTTTTCCTTCTCCAGC 0.498000 20 26 0 0 0.00152264 0 0 CYP2C18 1562 broad.mit.edu 37 10 96493144 96493144 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96493144G>A ENST00000285979.6 + 8 1439 c.1240G>A c.(1240-1242)Gat>Aat p.D414N CYP2C18_ENST00000339022.5_Missense_Mutation_p.D355N|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) CCACTTTCTGGATAAGAGTGG 0.428000 22 28 0 0 0.00278032 0 0 SI 6476 broad.mit.edu 37 3 164777015 164777015 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:164777015C>T ENST00000264382.3 - 11 1281 c.1219G>A c.(1219-1221)Gga>Aga p.G407R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 407 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) TGAGGGAGTCCGTTAAACGCA 0.328000 HNSCC(35;0.089) 19 36 0 0 0.00074312 0 0 ZNF90 7643 broad.mit.edu 37 19 20229881 20229881 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:20229881G>A ENST00000418063.2 + 4 1630 c.1518G>A c.(1516-1518)gaG>gaA p.E506E ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 506 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACAGTGGAGAGAATCCCTACA 0.403000 5 15 0 0 0.000602214 0 0 MCHR2 84539 broad.mit.edu 37 6 100390994 100390994 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:100390994G>A ENST00000281806.2 - 4 732 c.418C>T c.(418-420)Cga>Tga p.R140* MCHR2_ENST00000445970.1_Nonsense_Mutation_p.R140*|MCHR2_ENST00000369212.1_Nonsense_Mutation_p.R140* NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 140 integral to membrane|plasma membrane G-protein coupled receptor activity p.R140*(1) 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) CGTGTCAGTCGAAATGGTTGG 0.478000 34 70 0 0 0.000692331 0 0 ZNF99 7652 broad.mit.edu 37 19 22941261 22941261 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22941261C>T ENST00000397104.3 - 5 1176 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K ZNF99_ENST00000596209.1_Missense_Mutation_p.E484K 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) CCACATTCTTCACATTTGTAG 0.368000 14 42 0 0 0.000308642 0 0 MDGA1 266727 broad.mit.edu 37 6 37631751 37631751 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:37631751G>A ENST00000434837.2 - 2 1377 c.199C>T c.(199-201)Cga>Tga p.R67* MDGA1_ENST00000505425.1_Nonsense_Mutation_p.R67*|MDGA1_ENST00000297153.7_Nonsense_Mutation_p.R67* NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 67 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane p.R67R(1) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCTGGGGTCGAGGGTGCCCT 0.602000 12 22 0 0 0.000978159 0 0 NELL1 4745 broad.mit.edu 37 11 21556021 21556021 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:21556021G>A ENST00000298925.5 + 17 1984 c.1831G>A c.(1831-1833)Gac>Aac p.D611N NELL1_ENST00000325319.5_Missense_Mutation_p.D526N|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.D583N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 583 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CGGTTTCCATGACGATGGGAC 0.527000 20 42 0 0 0.00047179 0 0 IFNW1 3467 broad.mit.edu 37 9 21141054 21141054 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:21141054C>T ENST00000380229.2 - 1 1090 c.516G>A c.(514-516)atG>atA p.M172I NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 172 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ACAAGGATTTCATGATTTCCA 0.413000 21 33 0 0 0.000586117 0 0 ERC2 26059 broad.mit.edu 37 3 56044485 56044485 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:56044485C>T ENST00000288221.6 - 9 2167 c.1912G>A c.(1912-1914)Gag>Aag p.E638K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 638 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) ACCTCTTTCTCAGTCAGTTCA 0.408000 31 38 0 0 0.00058488 0 0 ZYX 7791 broad.mit.edu 37 7 143079425 143079425 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143079425C>T ENST00000322764.5 + 3 638 c.293C>T c.(292-294)cCc>cTc p.P98L ZYX_ENST00000477373.1_Intron|ZYX_ENST00000392910.2_5'UTR|ZYX_ENST00000449423.2_Missense_Mutation_p.P42L NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 98 Pro-rich. cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) CCGCCCCCTCCCCCGATCGAG 0.677000 8 23 0 0 0.000442599 0 0 SSH1 54434 broad.mit.edu 37 12 109182305 109182305 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:109182305G>A ENST00000326495.5 - 15 2702 c.2609C>T c.(2608-2610)cCc>cTc p.P870L SSH1_ENST00000360239.3_Missense_Mutation_p.P558L NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 870 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CATAACCAGGGGGCCCAGCTC 0.667000 15 31 0 0 0.000308642 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761883 77761883 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77761883C>T ENST00000521891.2 + 8 4229 c.3781C>T c.(3781-3783)Ctc>Ttc p.L1261F ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1216F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1216F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1235F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAAATGCATCTCCAACTGCA 0.493000 HNSCC(33;0.089) 9 35 0 0 0.000442599 0 0 PHTF1 10745 broad.mit.edu 37 1 114280739 114280739 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:114280739G>A ENST00000369604.1 - 5 807 c.324C>T c.(322-324)ttC>ttT p.F108F PHTF1_ENST00000357783.2_Silent_p.F108F|PHTF1_ENST00000393357.2_Silent_p.F108F|PHTF1_ENST00000369596.2_Intron|PHTF1_ENST00000447664.2_Silent_p.F108F|PHTF1_ENST00000369598.1_Silent_p.F108F|PHTF1_ENST00000369600.1_Intron Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 108 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TACCTTGCATGAAATAAAGTA 0.343000 9 37 0 0 0.000978159 0 0 NAIF1 203245 broad.mit.edu 37 9 130828896 130828896 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130828896G>A ENST00000373078.4 - 1 704 c.485C>T c.(484-486)gCc>gTc p.A162V NM_197956.3 NP_931045.1 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 162 apoptosis|induction of apoptosis nucleus central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CGTGGCTGCGGCTGCGGTGGC 0.657000 20 20 0 0 0.00188189 0 0 STARD3NL 83930 broad.mit.edu 37 7 38259190 38259190 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:38259190C>T ENST00000009041.7 + 7 835 c.578C>T c.(577-579)tCa>tTa p.S193L STARD3NL_ENST00000434197.1_Missense_Mutation_p.S175L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.S186L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.S193L NM_032016.3 NP_114405.1 O95772 MENTO_HUMAN STARD3 N-terminal like 193 MENTAL. integral to membrane|late endosome membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 CAGGATGCTTCAGAGAGGGCA 0.408000 52 96 0 0 0.000781405 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967226 142967226 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:142967226C>T ENST00000370494.1 + 1 54 c.24C>T c.(22-24)atC>atT p.I8I NM_001012989.1 NP_001013007.1 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 8 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCCACAGGATCATCAAGGAAA 0.458000 33 30 0 0 0.000953801 0 0 FAF1 11124 broad.mit.edu 37 1 51032830 51032830 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:51032830C>A ENST00000396153.2 - 13 1638 c.1187G>T c.(1186-1188)tGt>tTt p.C396F FAF1_ENST00000545823.1_Missense_Mutation_p.C154F|FAF1_ENST00000371778.4_Missense_Mutation_p.C396F|FAF1_ENST00000472808.1_5'UTR NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 396 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) GGATTCAGCACAAAGCATTTG 0.393000 19 68 1.67942e-08 6.53693e-08 0.00074312 1 0 APOBEC3C 27350 broad.mit.edu 37 22 39411611 39411611 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:39411611A>G ENST00000361441.3 + 2 309 c.29A>G c.(28-30)aAg>aGg p.K10R APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 10 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) AACCCGATGAAGGCAATGTAT 0.517000 28 53 0 0 0.0024448 0 0 BMP10 27302 broad.mit.edu 37 2 69093694 69093694 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:69093694G>A ENST00000295379.1 - 2 502 c.344C>T c.(343-345)tCc>tTc p.S115F NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 115 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 GACCGGCTGGGAAAACAGATC 0.428000 4 23 0 0 0.000602214 0 0 PEX5 5830 broad.mit.edu 37 12 7361653 7361653 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7361653C>T ENST00000266563.5 + 13 1519 c.1336C>T c.(1336-1338)Cct>Tct p.P446S PEX5_ENST00000412720.2_Missense_Mutation_p.P504S|PEX5_ENST00000266564.3_Missense_Mutation_p.P475S|PEX5_ENST00000434354.2_Missense_Mutation_p.P498S|PEX5_ENST00000420616.2_Missense_Mutation_p.P483S|PEX5_ENST00000455147.2_Missense_Mutation_p.P483S NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 483 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 GCGGCTGGACCCTACCTCCAT 0.507000 38 70 0 0 0.00128727 0 0 SHANK2 22941 broad.mit.edu 37 11 70333553 70333553 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:70333553C>T ENST00000338508.4 - 32 2847 c.2848G>A c.(2848-2850)Ggg>Agg p.G950R SHANK2_ENST00000423696.2_Missense_Mutation_p.G570R|SHANK2_ENST00000449833.2_Missense_Mutation_p.G354R|SHANK2_ENST00000409161.1_Missense_Mutation_p.G353R Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 570 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AAGTACATCCCCTTCTCCCTC 0.582000 11 12 0 0 0.00136819 0 0 ZNF121 7675 broad.mit.edu 37 19 9676819 9676819 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9676819A>C ENST00000586602.1 - 6 1386 c.970T>G c.(970-972)Tct>Gct p.S324A ZNF121_ENST00000320451.6_Missense_Mutation_p.S324A P58317 ZN121_HUMAN zinc finger protein 121 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 24 AGTTGTGAAGATGTAGCAAAG 0.393000 25 38 0 0 0.00047179 0 0 MECOM 2122 broad.mit.edu 37 3 168845701 168845701 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:168845701T>A ENST00000464456.1 - 4 1397 c.197A>T c.(196-198)aAt>aTt p.N66I MECOM_ENST00000433243.2_Missense_Mutation_p.N66I|MECOM_ENST00000472280.1_Missense_Mutation_p.N66I|MECOM_ENST00000468789.1_Missense_Mutation_p.N66I|MECOM_ENST00000392736.3_Missense_Mutation_p.N66I|MECOM_ENST00000494292.1_Missense_Mutation_p.N254I|MECOM_ENST00000460814.1_Missense_Mutation_p.N66I|MECOM_ENST00000264674.3_Missense_Mutation_p.N130I NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTGGAGATCATTCTCGCTTTC 0.413000 39 118 0 0 0.00222228 0 0 ADCY8 114 broad.mit.edu 37 8 131880124 131880124 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131880124G>A ENST00000286355.5 - 9 4270 c.2178C>T c.(2176-2178)atC>atT p.I726I ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 726 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) GTATTGCCGTGATAAATAGAA 0.348000 HNSCC(32;0.087) 19 40 0 0 0.00188189 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722338 58722338 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:58722338C>T ENST00000300079.5 + 5 425 c.375C>T c.(373-375)atC>atT p.I125I GLYATL1_ENST00000317391.4_Silent_p.I94I|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 94 mitochondrion glycine N-acyltransferase activity p.I125I(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) ATTGTGAGATCGTAAACTGGA 0.393000 8 19 0 0 0.000157383 0 0 FOXB1 27023 broad.mit.edu 37 15 60297305 60297305 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:60297305C>A ENST00000396057.4 + 2 622 c.143C>A c.(142-144)cCc>cAc p.P48H FOXB1_ENST00000560857.1_Intron NM_012182.2 NP_036314.2 Q99853 FOXB1_HUMAN forkhead box B1 48 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning 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 central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 GACCGCTTCCCCTACTACAGG 0.592000 22 30 2.37509e-13 9.27548e-13 0.00152264 1 0 ZNF492 57615 broad.mit.edu 37 19 22846700 22846700 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22846700G>A ENST00000456783.2 + 4 473 c.229G>A c.(229-231)Gaa>Aaa p.E77K NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E77K(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATGTGGATGTGAAAATTTACA 0.348000 11 27 0 0 0.000978159 0 0 RIPPLY3 53820 broad.mit.edu 37 21 38390383 38390383 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:38390383G>A ENST00000329553.2 + 4 659 c.449G>A c.(448-450)gGa>gAa p.G150E RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 ripply transcriptional repressor 3 GGCCCAGGGGGAAAGGGCAGA 0.637000 11 21 0 0 0.000978159 0 0 LRRC4C 57689 broad.mit.edu 37 11 40135976 40135976 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:40135976C>T ENST00000278198.2 - 2 3830 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K LRRC4C_ENST00000528697.1_Missense_Mutation_p.E623K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E623K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E623K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 623 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) AATAACGGTTCATGCACTGAA 0.328000 27 53 0 0 0.00106085 0 0 DGKZ 8525 broad.mit.edu 37 11 46397925 46397925 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:46397925C>T ENST00000454345.1 + 24 2828 c.2703C>T c.(2701-2703)tcC>tcT p.S901S DGKZ_ENST00000395574.3_Silent_p.S679S|DGKZ_ENST00000543978.1_Silent_p.S65S|DGKZ_ENST00000532868.2_Silent_p.S717S|DGKZ_ENST00000456247.2_Silent_p.S712S|DGKZ_ENST00000318201.8_Silent_p.S690S|DGKZ_ENST00000527911.1_Silent_p.S713S|DGKZ_ENST00000528615.1_Silent_p.S491S|DGKZ_ENST00000421244.2_Silent_p.S713S|DGKZ_ENST00000343674.6_Silent_p.S729S NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 901 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) AGAAACTGTCCCCCAAGTGGT 0.617000 36 87 0 0 0.00195071 0 0 SCN7A 6332 broad.mit.edu 37 2 167322343 167322343 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:167322343C>T ENST00000409855.1 - 7 945 c.819G>A c.(817-819)gaG>gaA p.E273E NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 273 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CATTTTCATTCTCTTGGGGCC 0.363000 35 83 0 0 0.00170553 0 0 GABRB1 2560 broad.mit.edu 37 4 47427918 47427918 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:47427918C>T ENST00000295454.3 + 9 1600 c.1308C>T c.(1306-1308)ctC>ctT p.L436L GABRB1_ENST00000538619.1_Silent_p.L366L NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 436 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTCCCAGCTCAAAGTCAAGA 0.582000 31 55 0 0 0.001512 0 0 DNAH8 1769 broad.mit.edu 37 6 38757653 38757653 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38757653G>A ENST00000359357.3 + 17 2261 c.2007G>A c.(2005-2007)atG>atA p.M669I DNAH8_ENST00000441566.1_Missense_Mutation_p.M669I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M886I 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 CCCCAAAAATGAAAAAGGTTG 0.338000 17 57 0 0 0.00121646 0 0 OR2J3 442186 broad.mit.edu 37 6 29080598 29080598 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29080598G>A ENST00000377169.1 + 1 931 c.931G>A c.(931-933)Gaa>Aaa p.E311K NM_001005216.2 NP_001005216.2 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, member 3 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 AATGGGGTGGGAATGAGCCTG 0.393000 11 34 0 0 0.00136819 0 0 CRYGC 1420 broad.mit.edu 37 2 208993004 208993004 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:208993004C>T ENST00000282141.3 - 3 485 c.448G>A c.(448-450)Gag>Aag p.E150K NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 150 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CGCCTGTACTCTTGGGGCCTC 0.582000 29 56 0 0 0.001512 0 0 SI 6476 broad.mit.edu 37 3 164737539 164737539 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:164737539C>T ENST00000264382.3 - 28 3336 c.3274G>A c.(3274-3276)Gga>Aga p.G1092R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1092 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) AAAGCAAATCCAGGCAGCCAA 0.353000 HNSCC(35;0.089) 16 37 0 0 0.000566183 0 0 IL4R 3566 broad.mit.edu 37 16 27363934 27363934 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:27363934C>T ENST00000395762.2 + 7 846 c.587C>T c.(586-588)tCc>tTc p.S196F IL4R_ENST00000380922.3_Missense_Mutation_p.S181F|IL4R_ENST00000543915.2_Missense_Mutation_p.S196F|IL4R_ENST00000170630.2_Missense_Mutation_p.S196F|IL4R_ENST00000449195.1_Missense_Mutation_p.S196F NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 196 Fibronectin type-III. 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 p.S196F(2) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TCTGGGATTTCCTACAGGGCA 0.557000 27 76 0 0 0.0024448 0 0 HRNR 388697 broad.mit.edu 37 1 152188325 152188325 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152188325C>T ENST00000368801.2 - 3 5855 c.5780G>A c.(5779-5781)gGg>gAg p.G1927E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1927 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAGCCAGACCCATGCTGACC 0.582000 51 451 0 0 0.000781405 0 0 DAPK2 23604 broad.mit.edu 37 15 64218270 64218270 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:64218270G>A ENST00000261891.3 - 7 687 c.682C>T c.(682-684)Ctg>Ttg p.L228L DAPK2_ENST00000457488.1_Silent_p.L228L|DAPK2_ENST00000558069.1_Silent_p.L228L Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 228 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) GTGTCTCCCAGGAAAGGGGAT 0.502000 45 29 0 0 0.000781405 0 0 OBSL1 23363 broad.mit.edu 37 2 220429980 220429980 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220429980G>A ENST00000404537.1 - 6 2447 c.2391C>T c.(2389-2391)ttC>ttT p.F797F OBSL1_ENST00000603926.1_Silent_p.F797F|OBSL1_ENST00000265318.4_Silent_p.F797F|OBSL1_ENST00000373873.4_Silent_p.F797F|OBSL1_ENST00000289656.3_Silent_p.F384F|OBSL1_ENST00000373876.1_Silent_p.F797F NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 797 Ig-like 5. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CAGTGACGCCGAAGAAGGCCG 0.602000 4 7 0 0 0.00024832 0 0 CANT1 124583 broad.mit.edu 37 17 76993539 76993539 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76993539G>A ENST00000302345.2 - 2 660 c.166C>T c.(166-168)Ctc>Ttc p.L56F CANT1_ENST00000392446.5_Missense_Mutation_p.L56F|CANT1_ENST00000591773.1_Missense_Mutation_p.L56F NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 56 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGCAGCCAGAGGATGGCAGCA 0.692000 T ETV4 prostate 8 8 0 0 0.000274275 0 0 JAZF1 221895 broad.mit.edu 37 7 27880446 27880446 + Silent SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:27880446C>A ENST00000283928.5 - 4 591 c.426G>T c.(424-426)tcG>tcT p.S142S JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_3'UTR NM_175061.3 NP_778231.2 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 142 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 CATCGCTGTCCGACTCCTCAT 0.577000 T SUZ12 endometrial stromal tumours 9 441 0.000978159 0.00378232 0.000978159 1 0 TUBA3C 7278 broad.mit.edu 37 13 19752519 19752519 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:19752519C>T ENST00000400113.3 - 3 346 c.242G>A c.(241-243)gGa>gAa p.G81E NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 81 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCTATAGGTTCCTGTGCGCAC 0.488000 45 59 0 0 0.000781405 0 0 CREBBP 1387 broad.mit.edu 37 16 3779649 3779649 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:3779649C>T ENST00000262367.5 - 31 6208 c.5399G>A c.(5398-5400)cGg>cAg p.R1800Q CREBBP_ENST00000382070.3_Missense_Mutation_p.R1762Q NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1800 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTGCACCACCCGCTTCATCTT 0.652000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 19 30 0 0 0.00074312 0 0 MYL3 4634 broad.mit.edu 37 3 46904857 46904857 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:46904857G>A ENST00000395869.1 - 1 75 c.24C>T c.(22-24)ccC>ccT p.P8P MYL3_ENST00000292327.4_Silent_p.P8P P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 8 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) CATCCTTCTTGGGCTCTGGCT 0.602000 8 12 0 0 0.000157383 0 0 MYO3B 140469 broad.mit.edu 37 2 171092559 171092559 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:171092559C>T ENST00000334231.6 + 7 689 c.689C>T c.(688-690)tCc>tTc p.S230F MYO3B_ENST00000408978.4_Missense_Mutation_p.S221F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S221F|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 221 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 GACGTCTGGTCCTTGGGGATC 0.493000 OREG0014376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 66 0 0 0.000878237 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735767 55735767 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55735767G>A ENST00000312345.2 - 1 223 c.173C>T c.(172-174)tCc>tTc p.S58F NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S58F(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TTCCAAAAGGGAAAAATTGCT 0.348000 20 40 0 0 0.00152264 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113223516 113223516 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113223516G>A ENST00000261965.3 - 2 320 c.134C>T c.(133-135)cCa>cTa p.P45L TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P45L NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 45 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) TTCAACAGTTGGGGCGAAGTT 0.418000 21 65 0 0 0.000586117 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785560 209785560 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209785560C>T ENST00000009105.1 + 11 1584 c.1340_splice c.e11+1 p.Q447_splice CAMK1G_ENST00000361322.2_Splice_Site_p.Q447_splice Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 447 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CAACAAAAAACAGTACGTATT 0.507000 8 30 0 0 0.000442599 0 0 ACOT12 134526 broad.mit.edu 37 5 80628307 80628307 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:80628307G>A ENST00000307624.3 - 13 1408 c.1380C>T c.(1378-1380)ccC>ccT p.P460P ACOT12_ENST00000508234.1_5'UTR NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 460 START. 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) CATCTTTGAGGGGTTTTCTTC 0.368000 20 42 0 0 0.00229938 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87445337 87445337 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:87445337G>A ENST00000268616.4 - 12 2796 c.2579C>T c.(2578-2580)cCa>cTa p.P860L NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 860 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GACAGGGTCTGGGGTCCCGCT 0.657000 7 10 0 0 0.000157383 0 0 SMARCA1 6594 broad.mit.edu 37 X 128645872 128645872 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:128645872G>T ENST00000371122.4 - 6 848 c.719C>A c.(718-720)cCa>cAa p.P240Q SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371123.1_Missense_Mutation_p.P240Q|SMARCA1_ENST00000371121.3_Missense_Mutation_p.P240Q NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 240 Helicase ATP-binding. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 AGTAGACTTTGGAACTAAAAC 0.413000 7 182 0.00198382 0.00762708 0.00198382 1 0 SLC19A2 10560 broad.mit.edu 37 1 169439219 169439219 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:169439219G>A ENST00000236137.5 - 3 1249 c.1013C>T c.(1012-1014)gCc>gTc p.A338V SLC19A2_ENST00000367802.3_Missense_Mutation_p.A300V|SLC19A2_ENST00000367804.3_Missense_Mutation_p.A137V NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 338 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) GGTTGAAACGGCCTCCACGCC 0.483000 38 66 0 0 0.000781405 0 0 WDTC1 23038 broad.mit.edu 37 1 27618754 27618754 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27618754C>T ENST00000319394.3 + 7 1063 c.528C>T c.(526-528)gaC>gaT p.D176D WDTC1_ENST00000361771.3_Silent_p.D176D NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 176 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) TGCTGATTGACCTGACAGAGT 0.577000 15 68 0 0 0.000422831 0 0 AUTS2 26053 broad.mit.edu 37 7 70255516 70255516 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:70255516C>T ENST00000342771.4 + 19 3635 c.3314C>T c.(3313-3315)tCg>tTg p.S1105L AUTS2_ENST00000406775.2_Missense_Mutation_p.S1081L NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1105 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CACCGGCTCTCGACTCCCCGG 0.647000 6 7 0 0 0.00198382 0 0 OR7G3 390883 broad.mit.edu 37 19 9237101 9237101 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9237101G>A ENST00000305444.2 - 1 525 c.526C>T c.(526-528)Cac>Tac p.H176Y NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 CAGAAAAAGTGGGGAATTTCC 0.483000 16 50 0 0 0.000308642 0 0 RDH13 112724 broad.mit.edu 37 19 55556545 55556545 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55556545G>A ENST00000396247.3 - 8 1152 c.680C>T c.(679-681)cCc>cTc p.P227L RDH13_ENST00000415061.3_Missense_Mutation_p.P298L|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA NM_138412.3 NP_612421.1 Q8NBN7 RDH13_HUMAN retinol dehydrogenase 13 (all-trans/9-cis) 298 binding|oxidoreductase activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.199) GBM - Glioblastoma multiforme(193;0.0504) Vitamin A(DB00162) CTCAGCCTCGGGGGCCGGGGC 0.657000 21 32 0 0 0.00152264 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274324 103274324 + Silent SNP C C T rs139722927 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:103274324C>T ENST00000233969.2 + 2 733 c.591C>T c.(589-591)ttC>ttT p.F197F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 197 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TCGAAGCATTCGGCCTCAGCG 0.488000 66 175 0 0 0.000781405 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726220 168726220 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168726220G>A ENST00000305861.1 + 2 1022 c.671G>A c.(670-672)aGg>aAg p.R224K AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R224K|AC016723.4_ENST00000430546.1_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 224 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 TATATGCCCAGGGATTTGTAC 0.478000 20 43 0 0 0.00188189 0 0 KCNA4 3739 broad.mit.edu 37 11 30032434 30032434 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:30032434G>A ENST00000328224.6 - 2 3025 c.1792C>T c.(1792-1794)Cgg>Tgg p.R598W NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 598 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.R598W(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GTAGAGCTCCGAAATTTCTTG 0.458000 9 23 0 0 0.000274275 0 0 FREM2 341640 broad.mit.edu 37 13 39450237 39450237 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:39450237C>T ENST00000280481.7 + 19 8576 c.8360C>T c.(8359-8361)cCa>cTa p.P2787L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2787 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGGAGTGAACCAACCTATAAC 0.443000 49 124 0 0 0.000781405 0 0 IFNL1 282618 broad.mit.edu 37 19 39787498 39787498 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:39787498G>A ENST00000333625.2 + 2 322 c.225G>A c.(223-225)ggG>ggA p.G75G NM_172140.1 NP_742152.1 interferon, lambda 1 TCTTCCCCGGGAATTGGGACC 0.577000 28 58 0 0 0.00209593 0 0 LILRA1 11024 broad.mit.edu 37 19 55106793 55106793 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55106793G>A ENST00000453777.1 + 5 757 c.587G>A c.(586-588)aGg>aAg p.R196K LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R196K|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 196 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGGTCGTACAGGTGCTATGCT 0.582000 31 90 0 0 0.00283554 0 0 TCERG1 10915 broad.mit.edu 37 5 145886679 145886679 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:145886679A>G ENST00000296702.5 + 19 2857 c.2819A>G c.(2818-2820)gAg>gGg p.E940G TCERG1_ENST00000394421.2_Missense_Mutation_p.E919G NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 940 FF 4. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGGAAAGAGAGGAGAAAGAG 0.413000 32 87 0 0 0.00283554 0 0 AACS 65985 broad.mit.edu 37 12 125609554 125609554 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:125609554C>T ENST00000545511.1 + 2 5019 c.32C>T c.(31-33)tCc>tTc p.S11F AACS_ENST00000316543.10_Silent_p.L29L|AACS_ENST00000316519.6_Silent_p.L431L|AACS_ENST00000261686.6_Silent_p.L431L Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 0 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GCAGCATCCTCCTGGGCTCCA 0.592000 22 67 0 0 0.00047179 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95204435 95204435 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:95204435C>T ENST00000354268.4 + 22 2963 c.2890C>T c.(2890-2892)Cat>Tat p.H964Y SMARCAD1_ENST00000457823.2_Missense_Mutation_p.H966Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.H534Y Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 964 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) AGATAGATGCCATAGAGTAGG 0.338000 11 45 0 0 0.00185496 0 0 LONRF2 164832 broad.mit.edu 37 2 100919445 100919445 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:100919445C>T ENST00000393437.3 - 3 1498 c.859G>A c.(859-861)Gaa>Aaa p.E287K LONRF2_ENST00000409647.1_Missense_Mutation_p.E44K NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 287 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TAGAGAAATTCCTTTAACACT 0.393000 24 64 0 0 0.00278032 0 0 CXorf22 170063 broad.mit.edu 37 X 35993901 35993901 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:35993901G>A ENST00000297866.5 + 15 2650 c.2584G>A c.(2584-2586)Ggc>Agc p.G862S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 862 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 GAGACCACGAGGCTTCTTCAT 0.443000 51 39 0 0 0.000781405 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307674 39307674 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39307674G>A ENST00000541347.1 - 2 566 c.327C>T c.(325-327)ttC>ttT p.F109F CX3CR1_ENST00000358309.3_Silent_p.F141F|CX3CR1_ENST00000399220.2_Silent_p.F109F|CX3CR1_ENST00000542107.1_Silent_p.F109F NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 109 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) AGCCGATGAAGAAGAAGGCGG 0.483000 20 24 0 0 0.00152264 0 0 SPEF2 79925 broad.mit.edu 37 5 35814624 35814624 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35814624C>T ENST00000356031.3 + 37 5592 c.5438C>T c.(5437-5439)tCa>tTa p.S1813L SPEF2_ENST00000303129.4_Missense_Mutation_p.S610L|CTD-2113L7.1_ENST00000510433.1_RNA NM_024867.3 NP_079143.3 Q9C093 SPEF2_HUMAN sperm flagellar 2 1813 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAGAGAGATCACCTTCAAGA 0.303000 20 55 0 0 0.00152264 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132680 91132680 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:91132680C>T ENST00000373094.1 + 2 2286 c.1441C>T c.(1441-1443)Cct>Tct p.P481S PCDH11X_ENST00000361655.2_Missense_Mutation_p.P481S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P481S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P481S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P481S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P481S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 481 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding 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 GAATAACTCTCCTGGCATCCA 0.438000 23 19 0 0 0.00106085 0 0 DACH2 117154 broad.mit.edu 37 X 86069749 86069749 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:86069749C>T ENST00000373131.1 + 9 1720 c.1557C>T c.(1555-1557)gcC>gcT p.A519A DACH2_ENST00000510272.1_Silent_p.A313A|DACH2_ENST00000508860.1_Silent_p.A365A|DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Silent_p.A532A NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 532 DACHbox-C. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TGCAGGAAGCCTTGGAATTTG 0.433000 23 18 0 0 0.00188189 0 0 TBC1D1 23216 broad.mit.edu 37 4 38126669 38126669 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38126669G>A ENST00000261439.4 + 18 3404 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1017 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCTGCAGCATGAAAACCTAGA 0.403000 24 64 0 0 0.00047179 0 0 OPRK1 4986 broad.mit.edu 37 8 54142226 54142226 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:54142226G>A ENST00000265572.3 - 4 1071 c.774C>T c.(772-774)ctC>ctT p.L258L RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.L258L|OPRK1_ENST00000524278.1_Silent_p.L169L NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 258 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) AGCCAGAAAGGAGCCGGACGC 0.547000 13 39 0 0 0.00244969 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989511 121989511 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121989511G>A ENST00000263707.5 - 13 1329 c.1232C>T c.(1231-1233)aCc>aTc p.T411I NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 411 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) CAGCTCCAAGGTGGTCAGCTC 0.602000 19 57 0 0 0.00229938 0 0 PLCB1 23236 broad.mit.edu 37 20 8637904 8637904 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:8637904C>T ENST00000378641.3 + 8 1143 c.668C>T c.(667-669)cCt>cTt p.P223L PLCB1_ENST00000378637.2_Missense_Mutation_p.P223L|PLCB1_ENST00000338037.6_Missense_Mutation_p.P223L NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 223 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 TGCCCTCGACCTGAAATTGAT 0.393000 29 59 0 0 0.00209593 0 0 MSR1 4481 broad.mit.edu 37 8 16026357 16026357 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:16026357C>T ENST00000350896.3 - 4 437 c.240G>A c.(238-240)acG>acA p.T80T MSR1_ENST00000381998.4_Silent_p.T80T|MSR1_ENST00000355282.2_Silent_p.T80T|MSR1_ENST00000445506.2_Silent_p.T98T|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Silent_p.T80T NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 80 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) AGCAATTCTTCGTTTCCCACT 0.383000 24 59 0 0 0.00278032 0 0 ABCC3 8714 broad.mit.edu 37 17 48768473 48768473 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48768473G>A ENST00000285238.8 + 31 4576 c.4496G>A c.(4495-4497)gGa>gAa p.G1499E NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1499 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGGACAAAGGAGTAGTAGCT 0.488000 25 30 0 0 0.000586117 0 0 F13B 2165 broad.mit.edu 37 1 197009727 197009727 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197009727T>C ENST00000367412.1 - 11 1920 c.1877A>G c.(1876-1878)tAt>tGt p.Y626C F13B_ENST00000490002.1_5'UTR NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 626 Sushi 10. 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 TCCAGTAATATATAATTCAGC 0.313000 28 54 0 0 0.00283554 0 0 CLECL1 160365 broad.mit.edu 37 12 9885732 9885732 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9885732C>T ENST00000327839.3 - 1 163 c.129G>A c.(127-129)agG>agA p.R43R NM_172004.3 NP_742001.1 Q8IZS7 CLCL1_HUMAN C-type lectin-like 1 43 integral to membrane|plasma membrane sugar binding breast(1)|kidney(1)|large_intestine(4)|lung(3) 9 TGGCAAATTTCCTTCTGCTCC 0.388000 15 43 0 0 0.000308642 0 0 GPR107 57720 broad.mit.edu 37 9 132890960 132890960 + Silent SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:132890960G>T ENST00000372406.1 + 19 2133 c.1626G>T c.(1624-1626)acG>acT p.T542T GPR107_ENST00000372410.3_Silent_p.T513T|GPR107_ENST00000347136.6_Silent_p.T494T NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 542 integral to membrane p.T494T(1) endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) TTGTTCTAACGGGGTATAAAT 0.433000 8 213 0.000673444 0.0026062 0.000673444 1 0 AXDND1 126859 broad.mit.edu 37 1 179460692 179460692 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179460692C>T ENST00000367618.3 + 19 2498 c.2111C>T c.(2110-2112)tCt>tTt p.S704F AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 704 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 TTACATATATCTATGATCCAG 0.318000 16 39 0 0 0.00074312 0 0 HIVEP2 3097 broad.mit.edu 37 6 143074913 143074913 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:143074913G>A ENST00000367603.2 - 10 7414 c.6672C>T c.(6670-6672)gcC>gcT p.A2224A HIVEP2_ENST00000367604.1_Silent_p.A2224A|HIVEP2_ENST00000012134.2_Silent_p.A2224A NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGGGGATAGGGGCTCGCACTT 0.542000 32 63 0 0 0.00283554 0 0 COBL 23242 broad.mit.edu 37 7 51095984 51095984 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:51095984G>A ENST00000395542.2 - 12 3239 c.3055C>T c.(3055-3057)Ccc>Tcc p.P1019S COBL_ENST00000265136.7_Missense_Mutation_p.P937S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 937 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) TGGTTGTTGGGAGGAGTGACA 0.577000 14 27 0 0 0.000422831 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765453 18765453 + Silent SNP C C T rs151116969 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:18765453C>T ENST00000304081.4 - 5 892 c.792G>A c.(790-792)agG>agA p.R264R NT5C1B_ENST00000359846.2_Silent_p.R324R|NT5C1B_ENST00000600945.1_Silent_p.R324R|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R324R NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB p.R324R(1) endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CGTAGATTTTCCTGCCGTCCA 0.562000 38 90 0 0 0.00222228 0 0 THADA 63892 broad.mit.edu 37 2 43800110 43800110 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:43800110G>A ENST00000403856.1 - 13 1898 c.1751C>T c.(1750-1752)tCc>tTc p.S584F THADA_ENST00000402360.2_Missense_Mutation_p.S584F|THADA_ENST00000415080.2_Missense_Mutation_p.S294F|THADA_ENST00000330266.7_Missense_Mutation_p.S294F|THADA_ENST00000404790.1_Missense_Mutation_p.S584F|THADA_ENST00000405975.2_Missense_Mutation_p.S584F|THADA_ENST00000405006.4_Missense_Mutation_p.S584F Q6YHU6 THADA_HUMAN thyroid adenoma associated 584 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AGACCCTAAGGATGGGAAAGA 0.428000 82 213 0 0 0.000781405 0 0 OR5M11 219487 broad.mit.edu 37 11 56310629 56310629 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56310629G>A ENST00000528616.2 - 1 128 c.105C>T c.(103-105)taC>taT p.Y35Y NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 GGGTGACGAGGTAAACAACCA 0.473000 36 41 0 0 0.000814825 0 0 OTUD7A 161725 broad.mit.edu 37 15 31793992 31793992 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:31793992G>A ENST00000382902.1 - 8 1164 c.1072C>T c.(1072-1074)Ccc>Tcc p.P358S OTUD7A_ENST00000307050.4_Missense_Mutation_p.P351S Q8TE49 OTU7A_HUMAN OTU domain containing 7A 351 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CATCTGTTGGGAGGGACCTCC 0.577000 21 18 0 0 0.00188189 0 0 KANK3 256949 broad.mit.edu 37 19 8399516 8399516 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8399516C>T ENST00000330915.3 - 3 1260 c.1195G>A c.(1195-1197)Gag>Aag p.E399K KANK3_ENST00000593649.1_Missense_Mutation_p.E399K NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 399 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GTGGTGGCCTCGCGTAGCTGG 0.741000 3 4 0 0 6.4e-05 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101782 46101782 + Missense_Mutation SNP C C T rs138110019 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:46101782C>T ENST00000391617.1 - 1 296 c.257G>A c.(256-258)aGa>aAa p.R86K TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 86 14 X 5 AA approximate repeats. keratin filament p.R86K(1) kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGAGATGGGTCTGCAGAGGAC 0.637000 8 39 0 0 0.000157383 0 0 OR7D4 125958 broad.mit.edu 37 19 9324745 9324745 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9324745C>T ENST00000308682.2 - 1 797 c.769G>A c.(769-771)Ggg>Agg p.G257R NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGATAGACCCCAAGTCCTGTT 0.527000 13 20 0 0 0.00185496 0 0 LRP1B 53353 broad.mit.edu 37 2 141665489 141665489 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:141665489C>T ENST00000389484.3 - 22 4448 c.3477G>A c.(3475-3477)ggG>ggA p.G1159G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1159 LDL-receptor class A 10. 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) AATCCTTTTTCCCATTGCAGA 0.443000 TSP Lung(27;0.18) 57 134 0 0 0.000781405 0 0 MED12L 116931 broad.mit.edu 37 3 151105774 151105774 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151105774C>T ENST00000474524.1 + 35 5198 c.5160C>T c.(5158-5160)ccC>ccT p.P1720P MED12L_ENST00000273432.4_Silent_p.P1580P NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1720 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) TGCCCAAGCCCCGCAGTTACT 0.587000 8 22 0 0 0.000157383 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565576 11565576 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:11565576T>C ENST00000359227.3 - 7 1293 c.869A>G c.(868-870)aAc>aGc p.N290S ELAVL3_ENST00000438662.2_Missense_Mutation_p.N283S NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 290 RRM 3. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CGGTGACAGGTTGTACACGAA 0.652000 24 23 0 0 0.00278032 0 0 NME8 51314 broad.mit.edu 37 7 37907434 37907434 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:37907434G>A ENST00000199447.4 + 11 1124 c.752G>A c.(751-753)cGa>cAa p.R251Q NME8_ENST00000440017.1_Missense_Mutation_p.R251Q|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 251 NDK 1. 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 CCTAACGAACGATCTGAGGAT 0.443000 8 27 0 0 0.000274275 0 0 EDEM1 9695 broad.mit.edu 37 3 5229907 5229907 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:5229907C>T ENST00000600805.1 - 1 75 c.76G>A c.(76-78)Gac>Aac p.D26N EDEM1_ENST00000256497.4_Silent_p.V139V GCATGTTCGTCTTTGGCTACG 0.701000 4 2 0 0 0.000602214 0 0 ALMS1 7840 broad.mit.edu 37 2 73651929 73651929 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:73651929A>G ENST00000264448.6 + 5 1247 c.1136A>G c.(1135-1137)aAc>aGc p.N379S ALMS1_ENST00000377715.1_Missense_Mutation_p.N379S|ALMS1_ENST00000409009.1_Missense_Mutation_p.N337S NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 379 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTGATGAAAACATAGCTACT 0.373000 19 36 0 0 0.000958276 0 0 METTL25 84190 broad.mit.edu 37 12 82796878 82796878 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:82796878C>T ENST00000248306.3 + 5 1317 c.1248C>T c.(1246-1248)ctC>ctT p.L416L METTL25_ENST00000547357.1_3'UTR NM_032230.2 NP_115606.2 methyltransferase like 25 GCTACCACCTCTTATCTGAAG 0.373000 16 26 0 0 0.000566183 0 0 MADD 8567 broad.mit.edu 37 11 47296350 47296350 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:47296350C>T ENST00000342922.4 + 3 656 c.299C>T c.(298-300)tCc>tTc p.S100F MADD_ENST00000407859.3_Missense_Mutation_p.S100F|MADD_ENST00000349238.3_Missense_Mutation_p.S100F|MADD_ENST00000406482.1_Missense_Mutation_p.S100F|MADD_ENST00000402799.1_Missense_Mutation_p.S100F|MADD_ENST00000395336.3_Missense_Mutation_p.S100F|MADD_ENST00000395344.3_Missense_Mutation_p.S100F|MADD_ENST00000311027.5_Missense_Mutation_p.S100F|MADD_ENST00000402192.2_Missense_Mutation_p.S100F NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 100 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TTCTACCGCTCCTTCCAAAAG 0.557000 11 25 0 0 0.00136819 0 0 NTRK3 4916 broad.mit.edu 37 15 88423523 88423523 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:88423523C>T ENST00000394480.1 - 18 2591 c.2270G>A c.(2269-2271)tGg>tAg p.W757* NTRK3_ENST00000355254.2_Nonsense_Mutation_p.W757*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.W763*|NTRK3_ENST00000360948.2_Nonsense_Mutation_p.W771*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.W749* NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 771 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) GAGTTGGAACCATGGCTGCTT 0.507000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 80 39 0 0 0.000781405 0 0 ESYT1 23344 broad.mit.edu 37 12 56527604 56527604 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56527604C>T ENST00000394048.5 + 13 1684 c.1420C>T c.(1420-1422)Ccc>Tcc p.P474S ESYT1_ENST00000267113.4_Missense_Mutation_p.P474S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P474S NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 474 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TCGACCAGATCCCCCGTCAGC 0.562000 32 60 0 0 0.00128727 0 0 NEB 4703 broad.mit.edu 37 2 152512943 152512943 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152512943C>T ENST00000427231.2 - 49 6421 c.6219G>A c.(6217-6219)ggG>ggA p.G2073G NEB_ENST00000409198.1_Silent_p.G2073G|NEB_ENST00000603639.1_Silent_p.G2073G|NEB_ENST00000604864.1_Silent_p.G2073G|NEB_ENST00000172853.10_Silent_p.G2073G|NEB_ENST00000397345.3_Silent_p.G2073G NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2073 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) CAACCATTTTCCCCTTCCCTT 0.373000 25 85 0 0 0.00127121 0 0 KLK13 26085 broad.mit.edu 37 19 51563169 51563169 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51563169G>A ENST00000595793.1 - 3 463 c.421C>T c.(421-423)Caa>Taa p.Q141* KLK13_ENST00000596955.1_Nonsense_Mutation_p.Q141*|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000335422.3_Intron NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 141 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GGCAGGGTTTGGATGTAGCCT 0.632000 12 34 0 0 0.00136819 0 0 DYSF 8291 broad.mit.edu 37 2 71894519 71894519 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:71894519C>T ENST00000258104.3 + 47 5491 c.5214C>T c.(5212-5214)atC>atT p.I1738I DYSF_ENST00000409582.3_Silent_p.I1776I|DYSF_ENST00000409762.1_Silent_p.I1755I|DYSF_ENST00000409366.1_Silent_p.I1760I|DYSF_ENST00000394120.2_Silent_p.I1739I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.I1759I|DYSF_ENST00000413539.2_Silent_p.I1769I|DYSF_ENST00000409651.1_Silent_p.I1770I|DYSF_ENST00000410041.1_Silent_p.I1756I|DYSF_ENST00000409744.1_Silent_p.I1746I|DYSF_ENST00000410020.3_Silent_p.I1777I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1738 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 CTGGCAGGATCCCAAACCCAC 0.622000 19 73 0 0 0.00229938 0 0 HELQ 113510 broad.mit.edu 37 4 84339324 84339324 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:84339324C>A ENST00000295488.3 - 16 3147 c.2985G>T c.(2983-2985)ttG>ttT p.L995F HELQ_ENST00000510985.1_Missense_Mutation_p.L928F NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 995 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 TAAGTTCTACCAAAAGGGCTC 0.363000 Other identified genes with known or suspected DNA repair function 7 190 0.00198382 0.00762708 0.00198382 1 0 RDH8 50700 broad.mit.edu 37 19 10131966 10131966 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10131966A>G ENST00000591589.1 + 5 821 c.632A>G c.(631-633)gAg>gGg p.E211G RDH8_ENST00000171214.1_Missense_Mutation_p.E191G Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 191 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GTGGTCACCGAGTTTGAGGGG 0.592000 12 27 0 0 0.00244969 0 0 OR4X2 119764 broad.mit.edu 37 11 48267532 48267532 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48267532C>T ENST00000302329.3 + 1 925 c.877C>T c.(877-879)Ctg>Ttg p.L293L NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CATGAAGAGGCTGTGGATTAG 0.438000 20 58 0 0 0.00278032 0 0 FKBPL 63943 broad.mit.edu 37 6 32096660 32096660 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32096660C>A ENST00000375156.3 - 2 1168 c.898G>T c.(898-900)Ggg>Tgg p.G300W NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 300 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCCAGGTTCCCAAGGGCAGCC 0.597000 10 449 0.00136819 0.00527965 0.00136819 1 0 CASR 846 broad.mit.edu 37 3 122003081 122003081 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122003081C>T ENST00000498619.1 + 7 2748 c.2310C>T c.(2308-2310)atC>atT p.I770I CASR_ENST00000490131.1_Silent_p.I760I|CASR_ENST00000296154.5_Silent_p.I760I NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 760 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGGATGAGATCATCTTCATCA 0.567000 11 31 0 0 0.000673444 0 0 GMEB1 10691 broad.mit.edu 37 1 29029018 29029018 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:29029018C>T ENST00000373816.1 + 7 805 c.667C>T c.(667-669)Ctc>Ttc p.L223F GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.L223F|GMEB1_ENST00000294409.2_Missense_Mutation_p.L233F NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GAACTCAGCTCTCACCGCTGC 0.502000 15 46 0 0 0.000422831 0 0 YWHAG 7532 broad.mit.edu 37 7 75959023 75959023 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:75959023G>A ENST00000307630.3 - 2 837 c.615C>T c.(613-615)atC>atT p.I205I NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 205 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CAAGCTCGGCGATGGCGTCGT 0.592000 28 47 0 0 0.00127121 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941851 120941851 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:120941851G>A ENST00000273666.6 + 11 1229 c.956_splice c.e11-1 p.E320_splice STXBP5L_ENST00000472879.1_Splice_Site_p.E320_splice|STXBP5L_ENST00000471454.1_Splice_Site_p.E320_splice|STXBP5L_ENST00000497029.1_Splice_Site_p.E320_splice|STXBP5L_ENST00000492541.1_Splice_Site_p.E320_splice NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 320 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) CCTATGTAGCGAACCATTCAT 0.368000 27 73 0 0 0.00178596 0 0 SALL3 27164 broad.mit.edu 37 18 76752138 76752138 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:76752138G>A ENST00000575389.2 + 2 147 c.147G>A c.(145-147)gaG>gaA p.E49E SALL3_ENST00000537592.2_Silent_p.E49E|SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000536229.3_5'UTR Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGGGCGAGGAGACCAGCGTGT 0.692000 3 5 0 0 6.4e-05 0 0 CEP250 11190 broad.mit.edu 37 20 34095954 34095954 + Missense_Mutation SNP C C T rs148942784 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:34095954C>T ENST00000397527.1 + 32 7561 c.6841C>T c.(6841-6843)Cgg>Tgg p.R2281W CEP250_ENST00000342580.4_Missense_Mutation_p.R2225W NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2281 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGCAGTGGCCCGGCTGGAGAT 0.577000 35 84 0 0 0.00222228 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221721 140221721 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140221721G>A ENST00000531613.1 + 1 815 c.815G>A c.(814-816)gGa>gAa p.G272E PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G272E NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGATGAAGGAGCCAATGGG 0.398000 26 42 0 0 0.000586117 0 0 CD96 10225 broad.mit.edu 37 3 111297913 111297913 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111297913C>T ENST00000352690.4 + 4 823 c.583C>T c.(583-585)Cac>Tac p.H195Y CD96_ENST00000438817.2_Missense_Mutation_p.H195Y|CD96_ENST00000283285.5_Missense_Mutation_p.H211Y NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 211 Ig-like V-type 2. 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 CTCCCAAAATCACCTCATCAG 0.438000 Opitz Trigonocephaly syndrome 24 35 0 0 0.000878237 0 0 ASXL3 80816 broad.mit.edu 37 18 31318725 31318725 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:31318725G>A ENST00000269197.5 + 11 1357 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 453 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 AATTCAGGAGGAAATTGCAGA 0.393000 14 62 0 0 0.000566183 0 0 FAAH2 158584 broad.mit.edu 37 X 57473399 57473399 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:57473399G>A ENST00000374900.4 + 9 1275 c.1155G>A c.(1153-1155)ggG>ggA p.G385G FAAH2_ENST00000491179.1_Intron NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 385 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GTGACCATGGGAAACATGTCA 0.393000 HNSCC(52;0.14) 16 6 0 0 0.000422831 0 0 KSR2 283455 broad.mit.edu 37 12 118105405 118105405 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:118105405C>T ENST00000425217.1 - 5 1012 c.958G>A c.(958-960)Gag>Aag p.E320K KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.E349K|KSR2_ENST00000302438.5_Missense_Mutation_p.E46K NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 349 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) GGGATGTTCTCGCAGCTGCCT 0.552000 8 22 0 0 0.000157383 0 0 MYO18B 84700 broad.mit.edu 37 22 26348362 26348362 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26348362C>T ENST00000335473.7 + 38 6193 c.5943C>T c.(5941-5943)ttC>ttT p.F1981F MYO18B_ENST00000407587.2_Silent_p.F1982F|MYO18B_ENST00000536101.1_Silent_p.F1981F NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1981 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 AGACAGAGTTCCAGAAGGTGC 0.507000 5 30 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179594214 179594214 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179594214C>T ENST00000589042.1 - 64 18893 c.18669G>A c.(18667-18669)acG>acA p.T6223T TTN_ENST00000591111.1_Silent_p.T5906T|TTN_ENST00000342992.6_Silent_p.T4979T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5906 Ig-like 43. 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) GAGGTGTTCCCGTAACTTCAC 0.448000 38 53 0 0 0.000814825 0 0 OR11G2 390439 broad.mit.edu 37 14 20666088 20666088 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:20666088C>T ENST00000357366.3 + 1 594 c.594C>T c.(592-594)atC>atT p.I198I NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TGATTCCTATCGTCAACATCT 0.463000 12 21 0 0 0.000978159 0 0 SLC27A5 10998 broad.mit.edu 37 19 59012663 59012663 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:59012663T>C ENST00000263093.2 - 4 1281 c.1172A>G c.(1171-1173)aAc>aGc p.N391S SLC27A5_ENST00000601355.1_Missense_Mutation_p.N307S NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 391 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CTGGGGAATGTTACACAAGTA 0.517000 57 98 0 0 0.000781405 0 0 LRRN1 57633 broad.mit.edu 37 3 3888296 3888296 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:3888296G>A ENST00000319331.3 + 2 2732 c.1971G>A c.(1969-1971)aaG>aaA p.K657K SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 657 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) AAAGATTTAAGAGAAAAAACT 0.423000 16 20 0 0 0.000566183 0 0 NEURL3 93082 broad.mit.edu 37 2 97166176 97166176 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:97166176C>T ENST00000310865.3 - 0 751 neuralized E3 ubiquitin protein ligase 3 GTCGCCTCACCCAGCAGCTCG 0.687000 6 5 0 0 0.00198382 0 0 RP1 6101 broad.mit.edu 37 8 55540520 55540520 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:55540520G>A ENST00000220676.1 + 4 4226 c.4078G>A c.(4078-4080)Gaa>Aaa p.E1360K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1360 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) GGATTCAACTGAAGAGTTAGA 0.333000 20 55 0 0 0.00188189 0 0 LYST 1130 broad.mit.edu 37 1 235915467 235915467 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:235915467G>A ENST00000389794.3 - 27 7639 c.7465C>T c.(7465-7467)Ccc>Tcc p.P2489S LYST_ENST00000389793.2_Missense_Mutation_p.P2489S Q99698 LYST_HUMAN lysosomal trafficking regulator 2489 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) TCACTCATGGGAATGCTAAAG 0.308000 10 39 0 0 0.00136819 0 0 PYGO2 90780 broad.mit.edu 37 1 154932030 154932030 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:154932030G>A ENST00000368457.2 - 3 617 c.446C>T c.(445-447)cCc>cTc p.P149L PYGO2_ENST00000368456.1_Missense_Mutation_p.P112L NM_138300.3 NP_612157.1 Q9BRQ0 PYGO2_HUMAN pygopus family PHD finger 2 149 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) AGGACCCTGGGGGGGCATGTT 0.627000 10 25 0 0 0.000978159 0 0 GLRA1 2741 broad.mit.edu 37 5 151202326 151202326 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:151202326G>T ENST00000274576.4 - 9 1550 c.1258C>A c.(1258-1260)Cgc>Agc p.R420S GLRA1_ENST00000455880.2_Missense_Mutation_p.R428S|GLRA1_ENST00000545569.1_Missense_Mutation_p.R337S NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 428 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAGCCAATGCGGGATATTTTG 0.502000 6 80 0.00198382 0.00762708 0.00198382 1 0 SLC6A4 6532 broad.mit.edu 37 17 28543189 28543189 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:28543189G>A ENST00000401766.2 - 6 1395 c.883C>T c.(883-885)Ctg>Ttg p.L295L SLC6A4_ENST00000261707.3_Silent_p.L295L P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 295 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CTCACCAGCAGGACAGAAAGG 0.557000 39 37 0 0 0.00195071 0 0 FAT4 79633 broad.mit.edu 37 4 126411357 126411357 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126411357G>A ENST00000394329.3 + 17 13393 c.13380G>A c.(13378-13380)agG>agA p.R4460R FAT4_ENST00000335110.5_Silent_p.R2701R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4460 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 ACACGGGAAGGACCTGTGAGA 0.627000 17 36 0 0 0.000422831 0 0 TPO 7173 broad.mit.edu 37 2 1480954 1480954 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1480954G>A ENST00000345913.4 + 8 1007 c.916G>A c.(916-918)Ggg>Agg p.G306R TPO_ENST00000382201.3_Missense_Mutation_p.G306R|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.G306R|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G306R|TPO_ENST00000337415.3_Missense_Mutation_p.G306R NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 306 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGCGCTCTTTGGGAACCTGTC 0.711000 7 15 0 0 0.00198382 0 0 ARID2 196528 broad.mit.edu 37 12 46230691 46230691 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:46230691C>T ENST00000334344.6 + 8 1112 c.940C>T c.(940-942)Cgt>Tgt p.R314C ARID2_ENST00000422737.1_Missense_Mutation_p.R165C|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 314 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R314S(1)|p.R314C(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TACCTGTCTTCGTTTCCTATT 0.398000 """N, S, F""" hepatocellular carcinoma 30 73 0 0 0.001512 0 0 FGD6 55785 broad.mit.edu 37 12 95603962 95603962 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:95603962C>T ENST00000343958.4 - 2 1321 c.1098G>A c.(1096-1098)caG>caA p.Q366Q FGD6_ENST00000549499.1_Silent_p.Q366Q|FGD6_ENST00000546711.1_Silent_p.Q366Q NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 366 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 breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 ACAAAACATTCTGATGCAGAA 0.373000 25 64 0 0 0.00278032 0 0 MYH8 4626 broad.mit.edu 37 17 10299869 10299869 + Splice_Site SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10299869C>G ENST00000403437.2 - 32 4623 c.e32+1 CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGAGGACTCACGTTGCAAGTT 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 10 8 0 0 0.000442599 0 0 FAM126B 285172 broad.mit.edu 37 2 201846103 201846103 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:201846103C>T ENST00000418596.2 - 12 1670 c.1483G>A c.(1483-1485)Gac>Aac p.D495N AC005037.3_ENST00000413848.1_RNA NM_173822.3 NP_776183.1 Q8IXS8 F126B_HUMAN family with sequence similarity 126, member B 495 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CCTAGCCGGTCTTCCTGCAGA 0.512000 12 25 0 0 0.000978159 0 0 CUL9 23113 broad.mit.edu 37 6 43173896 43173896 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:43173896C>T ENST00000252050.4 + 25 5029 c.4945C>T c.(4945-4947)Ctc>Ttc p.L1649F CUL9_ENST00000354495.3_Missense_Mutation_p.L1539F|CUL9_ENST00000372647.2_Missense_Mutation_p.L1649F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1649 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCAGTTCCACCTCTTCCAGCT 0.562000 7 9 0 0 0.000442599 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111541 142111541 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142111541G>A ENST00000390378.1 - 0 194 AATACTGAAAGATAAACTGGG 0.498000 22 43 0 0 0.00188189 0 0 RPL12P38 645688 broad.mit.edu 37 17 58511054 58511054 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:58511054G>A ENST00000588627.1 - 0 2303 GTTGTCAAATGATCCTTTATT 0.388000 4 12 0 0 0.000602214 0 0 SNAP47 116841 broad.mit.edu 37 1 227968262 227968262 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:227968262C>T ENST00000366759.4 + 5 1697 c.1283C>T c.(1282-1284)gCc>gTc p.A428V SNAP47_ENST00000366760.1_Missense_Mutation_p.A186V NM_053052.3 NP_444280.2 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 428 t-SNARE coiled-coil homology 2. endomembrane system|membrane|perinuclear region of cytoplasm endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 GCCCTGGAGGCCGAGAGTGAG 0.572000 16 25 0 0 0.00121646 0 0 USP39 10713 broad.mit.edu 37 2 85848678 85848678 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:85848678C>T ENST00000323701.6 + 3 419 c.409C>T c.(409-411)Ctg>Ttg p.L137L USP39_ENST00000409025.1_Silent_p.L137L|USP39_ENST00000409470.1_Silent_p.L137L|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Intron|USP39_ENST00000409766.3_Silent_p.L137L NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 137 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 TTATGCCTGTCTGGTGTGTGG 0.368000 29 61 0 0 0.00058488 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6443283 6443283 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6443283G>A ENST00000162749.2 - 2 466 c.167C>T c.(166-168)tCg>tTg p.S56L TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.S56L|TNFRSF1A_ENST00000366159.4_Missense_Mutation_p.S56L NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 56 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 ACAGCAAATCGAATTATTTTG 0.502000 30 61 0 0 0.000814825 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 92 82 0 0 0.000781405 0 0 CFTR 1080 broad.mit.edu 37 7 117232021 117232021 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:117232021G>A ENST00000003084.6 + 14 1932 c.1800G>A c.(1798-1800)agG>agA p.R600R CFTR_ENST00000454343.1_Silent_p.R539R NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 600 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACAAAACTAGGATTTTGGTCA 0.279000 Cystic Fibrosis 38 97 0 0 0.000781405 0 0 MICALCL 84953 broad.mit.edu 37 11 12316171 12316171 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 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 37 104 0 0 0.00170553 0 0 TPTE 7179 broad.mit.edu 37 21 10914379 10914379 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10914379G>A ENST00000298232.7 - 20 1653 c.1286C>T c.(1285-1287)tCa>tTa p.S429L TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S409L|TPTE_ENST00000361285.4_Missense_Mutation_p.S447L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 447 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTCCTAATGAAATAGTGGA 0.328000 7 65 0 0 0.000157383 0 0 GRM8 2918 broad.mit.edu 37 7 126079219 126079219 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:126079219G>A ENST00000339582.2 - 11 3489 c.2681C>T c.(2680-2682)tCc>tTc p.S894F GRM8_ENST00000444921.2_Missense_Mutation_p.S894F|GRM8_ENST00000358373.3_3'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 894 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S894F(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTTGGTAGAGGAAGCTGTTAA 0.284000 HNSCC(24;0.065) 54 126 0 0 0.000781405 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140926 143140926 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143140926C>T ENST00000332690.1 + 1 381 c.381C>T c.(379-381)caC>caT p.H127H EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 127 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) CCTTCACCCACCCTGTCTTCT 0.483000 59 126 0 0 0.000781405 0 0 STXBP1 6812 broad.mit.edu 37 9 130425628 130425628 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130425628C>T ENST00000373302.3 + 7 713 c.574C>T c.(574-576)Cgg>Tgg p.R192W STXBP1_ENST00000373299.1_Missense_Mutation_p.R192W NM_003165.3 NP_003156.1 P61764 STXB1_HUMAN syntaxin binding protein 1 192 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 p.R192W(2) breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2) 23 TGTGCGGTATCGGGGGTAAGG 0.612000 13 60 0 0 0.00136819 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540497 169540497 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169540497G>A ENST00000340806.6 + 1 788 c.788G>A c.(787-789)gGg>gAg p.G263E NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 263 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ACGGAAATCGGGCTGAGCGGG 0.607000 6 25 0 0 0.00198382 0 0 SETD5 55209 broad.mit.edu 37 3 9476509 9476509 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:9476509G>A ENST00000402198.1 + 6 766 c.329_splice c.e6-1 p.G111_splice SETD5_ENST00000407969.1_Splice_Site_p.G130_splice|SETD5_ENST00000406341.1_Splice_Site_p.G111_splice|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000402466.1_5'UTR NM_001080517.1 NP_001073986.1 Q9C0A6 SETD5_HUMAN SET domain containing 5 111 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CCTCTTTAGGGGAATGAGCAG 0.458000 4 9 0 0 0.00024832 0 0 KLRC1 3821 broad.mit.edu 37 12 10601878 10601878 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:10601878C>T ENST00000544822.1 - 6 834 c.447G>A c.(445-447)tcG>tcA p.S149S KLRC1_ENST00000347831.5_Silent_p.S131S|KLRC1_ENST00000359151.3_Silent_p.S149S|KLRC1_ENST00000408006.3_Silent_p.S131S|KLRC1_ENST00000536188.1_Silent_p.S149S NM_213658.2 NP_998823.1 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, member 1 149 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity p.S149S(2) NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 TGGAGTTCTTCGAAGTACAGG 0.368000 81 172 0 0 0.000781405 0 0 CPA2 1358 broad.mit.edu 37 7 129909544 129909544 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:129909544G>A ENST00000222481.4 + 3 244 c.189G>A c.(187-189)gaG>gaA p.E63E NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 63 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) CCCCAGGGGAGACAGCCCACG 0.512000 17 36 0 0 0.000958276 0 0 RPP40 10799 broad.mit.edu 37 6 4995466 4995466 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:4995466G>A ENST00000380051.2 - 8 982 c.938C>T c.(937-939)tCc>tTc p.S313F RPP40_ENST00000319533.5_Missense_Mutation_p.S290F|RPP40_ENST00000464646.1_Missense_Mutation_p.S253F NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 313 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) GCCTTGAACGGACAGTGTAAC 0.358000 12 44 0 0 0.00136819 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720539 140720539 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140720539G>A ENST00000394576.2 + 1 2001 c.2001G>A c.(1999-2001)agG>agA p.R667R 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) TGGCCGACAGGATCCCCGACA 0.682000 22 45 0 0 0.000586117 0 0 KIF13A 63971 broad.mit.edu 37 6 17799556 17799556 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:17799556C>T ENST00000378814.5 - 22 2730 c.2731G>A c.(2731-2733)Gag>Aag p.E911K KIF13A_ENST00000378826.2_Missense_Mutation_p.E911K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E911K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E911K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E911K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 911 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GAAGGCACCTCGGGGTCCACC 0.527000 7 16 0 0 0.00198382 0 0 ICA1 3382 broad.mit.edu 37 7 8258070 8258070 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:8258070G>A ENST00000402384.3 - 6 710 c.444C>T c.(442-444)gcC>gcT p.A148A ICA1_ENST00000265577.7_Silent_p.A147A|ICA1_ENST00000396675.3_Silent_p.A148A|ICA1_ENST00000406470.2_Silent_p.A148A|ICA1_ENST00000407906.1_Silent_p.A148A|ICA1_ENST00000476942.1_Intron|ICA1_ENST00000422063.2_Silent_p.A148A|ICA1_ENST00000401396.1_Silent_p.A136A Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 148 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TATCTGAGATGGCCCGATGCC 0.483000 21 47 0 0 0.00121646 0 0 REV3L 5980 broad.mit.edu 37 6 111696857 111696857 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:111696857C>A ENST00000435970.1 - 15 3283 c.2467G>T c.(2467-2469)Gat>Tat p.D823Y REV3L_ENST00000368802.3_Missense_Mutation_p.D901Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D901Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D901Y O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 901 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AACGTTCCATCTCCAAAGTGA 0.383000 DNA polymerases (catalytic subunits) 39 78 1.32136e-16 5.16675e-16 0.00195071 1 0 SP140 11262 broad.mit.edu 37 2 231158985 231158985 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:231158985G>A ENST00000392045.3 + 21 2082 c.e21-1 SP140_ENST00000350136.5_Splice_Site|SP140_ENST00000417495.3_Splice_Site|SP140_ENST00000486687.2_Splice_Site|SP140_ENST00000343805.6_Splice_Site|SP140_ENST00000420434.3_Splice_Site NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 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) TTGTCTTTCAGAATGGATTTC 0.383000 12 29 0 0 0.000308642 0 0 USP29 57663 broad.mit.edu 37 19 57640915 57640915 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:57640915G>A ENST00000254181.4 + 4 1326 c.872G>A c.(871-873)gGa>gAa p.G291E USP29_ENST00000598197.1_Missense_Mutation_p.G291E NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 291 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCAATTTGGGAAACACCTGT 0.473000 15 29 0 0 0.000308642 0 0 ADAM29 11086 broad.mit.edu 37 4 175897020 175897020 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:175897020C>T ENST00000359240.3 + 5 1014 c.344C>T c.(343-345)tCc>tTc p.S115F ADAM29_ENST00000514159.1_Missense_Mutation_p.S115F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S115F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S115F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 115 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.S115F(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCCCTGGTTTCCCTCAGTACC 0.443000 21 39 0 0 0.00188189 0 0 LY75 4065 broad.mit.edu 37 2 160750531 160750531 + Silent SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:160750531C>A ENST00000263636.4 - 3 558 c.531G>T c.(529-531)ggG>ggT p.G177G LY75_ENST00000554112.1_Silent_p.G177G|LY75_ENST00000553424.1_Silent_p.G177G|LY75-CD302_ENST00000505052.1_Silent_p.G177G|LY75-CD302_ENST00000504764.1_Silent_p.G177G 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) GATGCCAGGTCCCATCAATTA 0.433000 17 38 4.7546e-09 1.85221e-08 0.000422831 1 0 SNIP1 79753 broad.mit.edu 37 1 38006221 38006221 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:38006221C>T ENST00000296215.6 - 3 535 c.463G>A c.(463-465)Gag>Aag p.E155K SNIP1_ENST00000468040.1_5'UTR NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 155 Arg-rich. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) CCAGGCCTCTCGTTAGACGTT 0.587000 46 102 0 0 0.000781405 0 0 WDR62 284403 broad.mit.edu 37 19 36575559 36575559 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:36575559C>T ENST00000401500.2 + 12 1590 c.1555C>T c.(1555-1557)Cac>Tac p.H519Y WDR62_ENST00000270301.7_Missense_Mutation_p.H519Y NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 519 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCCAGGATCCACGAGCTGCA 0.607000 22 32 0 0 0.000720815 0 0 HOXB1 3211 broad.mit.edu 37 17 46608054 46608054 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:46608054G>A ENST00000239174.6 - 1 305 c.213C>T c.(211-213)acC>acT p.T71T HOXB1_ENST00000577092.1_Silent_p.T71T NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 71 T -> N (in dbSNP:rs35254561). nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCACCCCCAGGGTCGAAGGCG 0.677000 24 22 0 0 0.000586117 0 0 C16orf62 57020 broad.mit.edu 37 16 19651383 19651383 + Missense_Mutation SNP G G A rs144364706 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:19651383G>A ENST00000438132.3 + 21 2060 c.2012G>A c.(2011-2013)cGg>cAg p.R671Q C16orf62_ENST00000251143.5_Missense_Mutation_p.R582Q|C16orf62_ENST00000543152.1_Missense_Mutation_p.R331Q|C16orf62_ENST00000448695.1_Missense_Mutation_p.R432Q|C16orf62_ENST00000542263.1_Missense_Mutation_p.R604Q|C16orf62_ENST00000417362.2_Missense_Mutation_p.R515Q NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 582 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 GAGAGTGTGCGGGTGGAGGTT 0.433000 5 61 0 0 0.00116845 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115527213 115527213 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:115527213G>A ENST00000361048.1 + 5 661 c.334G>A c.(334-336)Gaa>Aaa p.E112K PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E106K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E24K NM_024889.4 NP_079165.3 pleckstrin homology domain containing, family S member 1 CACTAACAGGGAATACTTCCT 0.388000 19 27 0 0 0.00152264 0 0 NLRP5 126206 broad.mit.edu 37 19 56569775 56569775 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56569775G>A ENST00000390649.3 + 14 3469 c.3470_splice c.e14+1 p.G1157_splice NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1157 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) ACAGATAATTGGGTAAGTCGC 0.463000 7 14 0 0 0.00198382 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245157 100245157 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100245157C>T ENST00000160382.5 - 8 776 c.e8-1 NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGACAGGCTCCTGTGGGGGCA 0.602000 14 28 0 0 0.000308642 0 0 LRRN4 164312 broad.mit.edu 37 20 6025272 6025272 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:6025272C>T ENST00000378858.4 - 4 1139 c.915G>A c.(913-915)tcG>tcA p.S305S NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 305 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 AGAGGTTGATCGATAGGACCT 0.438000 13 26 0 0 0.00244969 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548646 20548646 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:20548646C>T ENST00000329697.6 - 14 1836 c.1668G>A c.(1666-1668)ggG>ggA p.G556G ACSM2B_ENST00000565322.1_Silent_p.G477G|ACSM2B_ENST00000567001.1_Silent_p.G556G|ACSM2B_ENST00000565232.1_Silent_p.G556G NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 556 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GTTGAATTTTCCCTGTGACAG 0.473000 70 163 0 0 0.000781405 0 0 RGL2 5863 broad.mit.edu 37 6 33260299 33260299 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33260299G>A ENST00000497454.1 - 17 2525 c.2030C>T c.(2029-2031)cCa>cTa p.P677L PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 677 Ras-associating. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GATGACACTTGGAGCCTTGTC 0.517000 36 88 0 0 0.00148497 0 0 MAP3K5 4217 broad.mit.edu 37 6 136977592 136977592 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:136977592G>A ENST00000359015.4 - 10 1893 c.1533C>T c.(1531-1533)ctC>ctT p.L511L MAP3K5_ENST00000355845.4_5'UTR NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 511 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CAATAGACTTGAGGTACCTGA 0.353000 31 105 0 0 0.00283554 0 0 RELN 5649 broad.mit.edu 37 7 103301971 103301971 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:103301971C>T ENST00000428762.1 - 12 1452 c.1293G>A c.(1291-1293)tgG>tgA p.W431* RELN_ENST00000424685.2_Nonsense_Mutation_p.W431*|RELN_ENST00000343529.5_Nonsense_Mutation_p.W431* NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 431 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAAGACATCCCATCTAAAAA 0.358000 10 23 0 0 0.000673444 0 0 CYFIP2 26999 broad.mit.edu 37 5 156734867 156734867 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156734867C>T ENST00000347377.6 + 9 1325 c.894C>T c.(892-894)ttC>ttT p.F298F CYFIP2_ENST00000522463.1_Silent_p.F102F|CYFIP2_ENST00000521420.1_Silent_p.F272F|CYFIP2_ENST00000541131.1_Silent_p.F223F|CYFIP2_ENST00000318218.6_Silent_p.F298F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Silent_p.F298F NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 298 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGATAAATTCTTTAAGGTCA 0.458000 67 184 0 0 0.000781405 0 0 LOXL2 4017 broad.mit.edu 37 8 23191094 23191094 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:23191094G>A ENST00000389131.3 - 5 1155 c.786C>T c.(784-786)tcC>tcT p.S262S NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 262 SRCR 2. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TGCAGTCCATGGAGAATGGCC 0.607000 12 25 0 0 0.00185496 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24890298 24890298 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:24890298G>A ENST00000382071.2 + 2 242 c.157G>A c.(157-159)Ggc>Agc p.G53S C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G53S P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 53 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) GGGTGACAAAGGCGATGCAGG 0.542000 12 29 0 0 0.00074312 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449693 61449693 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61449693C>T ENST00000398019.2 + 2 412 c.87C>T c.(85-87)ttC>ttT p.F29F SERPINB7_ENST00000336429.2_Silent_p.F29F|SERPINB7_ENST00000540675.1_Silent_p.F29F|SERPINB7_ENST00000546027.1_Silent_p.F29F NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 29 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) GAAATGTGTTCTTTTCCTCTC 0.498000 19 52 0 0 0.00188189 0 0 SLC17A1 6568 broad.mit.edu 37 6 25819814 25819814 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:25819814T>C ENST00000244527.4 - 5 569 c.454A>G c.(454-456)Aca>Gca p.T152A SLC17A1_ENST00000468082.1_Missense_Mutation_p.T152A|SLC17A1_ENST00000427328.1_Missense_Mutation_p.T152A|SLC17A1_ENST00000476801.1_Missense_Mutation_p.T152A NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 152 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AACTGGGCTGTTGCAACTATC 0.378000 16 56 0 0 0.000422831 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80604836 80604836 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:80604836C>T ENST00000254037.2 + 3 3762 c.607C>T c.(607-609)Ccc>Tcc p.P203S ZCCHC9_ENST00000380199.5_Missense_Mutation_p.P203S|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.P203S|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.P203S|ZCCHC9_ENST00000506458.1_3'UTR Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 203 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) TCCTGATAATCCCAAAGGACT 0.388000 15 39 0 0 0.000566183 0 0 CCDC63 160762 broad.mit.edu 37 12 111321930 111321930 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:111321930G>A ENST00000308208.5 + 8 1192 c.950G>A c.(949-951)gGg>gAg p.G317E CCDC63_ENST00000552694.1_Missense_Mutation_p.G238E|CCDC63_ENST00000545036.1_Missense_Mutation_p.G277E NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 317 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 GCTGAGAGTGGGAACCTAAAC 0.502000 39 75 0 0 0.00128727 0 0 THSD4 79875 broad.mit.edu 37 15 71704066 71704066 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:71704066G>A ENST00000355327.3 + 7 1190 c.1056G>A c.(1054-1056)atG>atA p.M352I THSD4_ENST00000261862.6_Missense_Mutation_p.M352I Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 352 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 GCCAGGCAATGGGCTACCGCT 0.443000 47 15 0 0 0.00285205 0 0 MACF1 23499 broad.mit.edu 37 1 39901420 39901420 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:39901420C>T ENST00000564288.1 + 70 18752 c.17975C>T c.(17974-17976)tCc>tTc p.S5992F MACF1_ENST00000372915.3_Missense_Mutation_p.S5888F|MACF1_ENST00000539005.1_Missense_Mutation_p.S3800F|MACF1_ENST00000567887.1_Missense_Mutation_p.S6029F|MACF1_ENST00000361689.2_Missense_Mutation_p.S3930F|MACF1_ENST00000317713.7_Missense_Mutation_p.S3930F|MACF1_ENST00000289893.4_Missense_Mutation_p.S4432F|MACF1_ENST00000545844.1_Missense_Mutation_p.S3930F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6004 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) GAAGCCGTGTCCCAGTCCACA 0.483000 39 41 0 0 0.00195071 0 0 CCDC108 255101 broad.mit.edu 37 2 219874695 219874695 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:219874695G>A ENST00000341552.5 - 27 4504 c.4421C>T c.(4420-4422)tCc>tTc p.S1474F CCDC108_ENST00000453220.1_Missense_Mutation_p.S1474F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1474F|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1474 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGCTGCCAGGAGAAGGCAAT 0.552000 15 29 0 0 0.000308642 0 0 DARC 2532 broad.mit.edu 37 1 159176200 159176200 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159176200G>A ENST00000537147.1 + 3 1814 c.971G>A c.(970-972)gGa>gAa p.G324E DARC_ENST00000368121.2_Missense_Mutation_p.G326E|DARC_ENST00000368122.2_Missense_Mutation_p.G324E Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 324 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTCCCTGAAGGATGGTCTTCT 0.562000 84 180 0 0 0.000781405 0 0 DHX38 9785 broad.mit.edu 37 16 72142768 72142768 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:72142768G>A ENST00000268482.3 + 24 3834 c.3325G>A c.(3325-3327)Gga>Aga p.G1109R DHX38_ENST00000536867.1_Missense_Mutation_p.G421R NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1109 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CTCCCTTTTTGGAATGGGCTA 0.547000 14 22 0 0 0.000422831 0 0 FAT2 2196 broad.mit.edu 37 5 150947743 150947743 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:150947743G>A ENST00000261800.5 - 1 762 c.750C>T c.(748-750)ctC>ctT p.L250L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 250 Cadherin 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGGCTTCCTGAGGGCAGGCT 0.567000 12 17 0 0 0.000978159 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30118226 30118226 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:30118226A>G ENST00000449726.1 + 14 1733 c.1383A>G c.(1381-1383)ccA>ccG p.P461P PLEKHA8_ENST00000396257.2_Intron|PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000258679.7_Intron NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 461 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GGGCAGCTCCATCCTATGAAG 0.453000 17 37 0 0 0.000958276 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769787 112769787 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:112769787G>A ENST00000390666.3 - 1 941 c.750C>T c.(748-750)taC>taT p.Y250Y MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 250 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GCAGCATGTGGTAGATGAGGT 0.602000 13 27 0 0 0.00244969 0 0 RICTOR 253260 broad.mit.edu 37 5 38964940 38964940 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:38964940G>A ENST00000357387.3 - 16 1384 c.1354C>T c.(1354-1356)Cta>Tta p.L452L RICTOR_ENST00000296782.5_Silent_p.L452L NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 452 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) ATATTCATTAGGGTTGGCAAG 0.338000 16 43 0 0 0.00121646 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122505 153122505 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153122505G>A ENST00000368748.4 - 2 120 c.82C>T c.(82-84)Cca>Tca p.P28S NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 28 3 X 9 AA approximate tandem repeats. keratinization cornified envelope|cytoplasm p.P28S(1) 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) TTCGGGGGTGGACATGGCTCT 0.597000 26 50 0 0 0.00178596 0 0 SCAPER 49855 broad.mit.edu 37 15 77067374 77067374 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:77067374G>A ENST00000538941.2 - 9 1058 c.119C>T c.(118-120)tCa>tTa p.S40L SCAPER_ENST00000563290.1_Missense_Mutation_p.S286L|SCAPER_ENST00000324767.7_Missense_Mutation_p.S286L|SCAPER_ENST00000562890.1_5'UTR NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 285 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TGTTGCCAATGAAACTTTTGG 0.403000 119 47 0 0 0.000781405 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958068 57958068 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:57958068C>T ENST00000311591.3 + 1 163 c.106C>T c.(106-108)Ctt>Ttt p.L36F NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) GAGTTTCTATCTTGCCACTAT 0.483000 16 16 0 0 0.000958276 0 0 PRLR 5618 broad.mit.edu 37 5 35065447 35065447 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35065447C>T ENST00000382002.5 - 10 2039 c.1613G>A c.(1612-1614)gGg>gAg p.G538E PRLR_ENST00000513753.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.G437E|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.G437E|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Silent_p.R347R|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 538 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) CTCAGGAGTCCCGGGCTTCTT 0.483000 13 49 0 0 0.00244969 0 0 VSTM1 284415 broad.mit.edu 37 19 54545553 54545553 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:54545553G>A ENST00000338372.2 - 5 640 c.465C>T c.(463-465)atC>atT p.I155I VSTM1_ENST00000366170.2_Silent_p.I67I|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Intron NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 155 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) ATCTGTAGATGATGAAGACTG 0.502000 8 24 0 0 0.000157383 0 0 TECTA 7007 broad.mit.edu 37 11 121061414 121061414 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:121061414G>A ENST00000392793.1 + 24 6638 c.e24-1 TECTA_ENST00000264037.2_Splice_Site O75443 TECTA_HUMAN tectorin alpha cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCTGTTTACAGCCTCTAATTC 0.413000 14 23 0 0 0.000422831 0 0 RXFP1 59350 broad.mit.edu 37 4 159568290 159568290 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:159568290C>T ENST00000307765.5 + 16 1944 c.1693C>T c.(1693-1695)Cct>Tct p.P565S RXFP1_ENST00000460056.2_Missense_Mutation_p.P484S|RXFP1_ENST00000470033.1_Missense_Mutation_p.P532S|RXFP1_ENST00000448688.2_Missense_Mutation_p.P460S|RXFP1_ENST00000343542.5_Missense_Mutation_p.P517S NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 565 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AGTATGCTTCCCTCTTCATTC 0.333000 25 52 0 0 0.000720815 0 0 PAPPA 5069 broad.mit.edu 37 9 118974097 118974097 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:118974097G>A ENST00000328252.3 + 4 2173 c.1804G>A c.(1804-1806)Gat>Aat p.D602N PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 602 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 CCTCTGCAATGATACCAACCC 0.532000 64 214 0 0 0.000781405 0 0 COL8A1 1295 broad.mit.edu 37 3 99513448 99513448 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:99513448G>A ENST00000261037.3 + 5 1083 c.703G>A c.(703-705)Ggc>Agc p.G235S COL8A1_ENST00000273342.4_Missense_Mutation_p.G235S NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 235 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AGGACCTCAAGGCCTTCGGGG 0.622000 27 71 0 0 0.00209593 0 0 OR8K3 219473 broad.mit.edu 37 11 56085989 56085989 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56085989G>A ENST00000312711.1 + 1 207 c.207G>A c.(205-207)atG>atA p.M69I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 69 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) TGGCTTTCATGGATCTTGGTT 0.383000 45 63 0 0 0.000781405 0 0 PLA2G12A 81579 broad.mit.edu 37 4 110650855 110650855 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:110650855G>A ENST00000243501.5 - 1 378 c.111C>T c.(109-111)acC>acT p.T37T PLA2G12A_ENST00000502283.1_Silent_p.T37T NM_030821.4 NP_110448.2 Q9BZM1 PG12A_HUMAN phospholipase A2, group XIIA 37 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000268) CGTTCCGGATGGTCTTCAGGG 0.627000 5 13 0 0 0.00116845 0 0 BBX 56987 broad.mit.edu 37 3 107524238 107524238 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:107524238C>T ENST00000416476.2 + 17 1971 c.1751C>T c.(1750-1752)tCa>tTa p.S584L BBX_ENST00000325805.8_Silent_p.L920L|BBX_ENST00000406780.1_Silent_p.L890L|BBX_ENST00000415149.2_Silent_p.L890L|BBX_ENST00000402543.1_Silent_p.L870L Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) CAACTCCGCTCACCCATGATG 0.433000 51 132 0 0 0.000781405 0 0 ROS1 6098 broad.mit.edu 37 6 117700235 117700235 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117700235G>A ENST00000368508.3 - 17 2782 c.2584C>T c.(2584-2586)Ctt>Ttt p.L862F GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.L857F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 862 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TGTCCCCGAAGAACAGCTGTG 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 16 40 0 0 0.000958276 0 0 LMOD1 25802 broad.mit.edu 37 1 201868835 201868835 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:201868835C>T ENST00000367288.4 - 2 1552 c.1306G>A c.(1306-1308)Gag>Aag p.E436K RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 436 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 TTGGCGATCTCCATCTCCGTC 0.592000 11 27 0 0 0.000673444 0 0 LPIN1 23175 broad.mit.edu 37 2 11922483 11922483 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:11922483C>T ENST00000256720.2 + 7 1099 c.1006C>T c.(1006-1008)Cct>Tct p.P336S LPIN1_ENST00000425416.2_Missense_Mutation_p.P342S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P421S|LPIN1_ENST00000396097.1_Missense_Mutation_p.P66S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P378S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P378S NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 336 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CCAGAACAAGCCTCAGACAGA 0.507000 14 36 0 0 0.00185496 0 0 KIF2B 84643 broad.mit.edu 37 17 51900950 51900950 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:51900950G>A ENST00000268919.4 + 1 712 c.556G>A c.(556-558)Gaa>Aaa p.E186K NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 186 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 CCCCAACTACGAAATCATGCA 0.567000 8 72 0 0 0.000157383 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508190 37508190 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37508190G>A ENST00000374660.1 + 40 3838 c.3739G>A c.(3739-3741)Gaa>Aaa p.E1247K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1128K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1128K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1184 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAAATTGAAGGAAAAACAAGA 0.368000 29 75 0 0 0.00127121 0 0 ITGA10 8515 broad.mit.edu 37 1 145539751 145539751 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:145539751C>T ENST00000369304.3 + 27 3358 c.3183C>T c.(3181-3183)gtC>gtT p.V1061V ITGA10_ENST00000539363.1_Silent_p.V918V|ITGA10_ENST00000538811.1_Silent_p.V930V NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 1061 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGACTGAGGTCTCTGTTGGAC 0.488000 14 24 0 0 0.000308642 0 0 FAM127A 8933 broad.mit.edu 37 X 134166496 134166496 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:134166496C>T ENST00000257013.7 + 1 164 c.83C>T c.(82-84)cCc>cTc p.P28L FAM127A_ENST00000464369.1_3'UTR NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 28 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) AACCCGATTCCCTTTCCCGAG 0.632000 29 16 0 0 0.00178596 0 0 RDH8 50700 broad.mit.edu 37 19 10132089 10132089 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10132089G>A ENST00000591589.1 + 5 944 c.755G>A c.(754-756)gGa>gAa p.G252E RDH8_ENST00000171214.1_Missense_Mutation_p.G232E Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 232 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) TGCTCCGTGGGACAGAACCCA 0.617000 13 47 0 0 0.000308642 0 0 CDH10 1008 broad.mit.edu 37 5 24537681 24537681 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:24537681G>A ENST00000264463.4 - 3 841 c.334C>T c.(334-336)Cat>Tat p.H112Y NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 112 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H112Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTTGTGGCATGAATATCACCT 0.403000 HNSCC(23;0.051) 20 80 0 0 0.00152264 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228931 142228931 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:142228931C>T ENST00000519067.1 - 4 958 c.655G>A c.(655-657)Ggc>Agc p.G219S SLC45A4_ENST00000433583.2_Missense_Mutation_p.G212S|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G219S|SLC45A4_ENST00000517878.1_Missense_Mutation_p.G270S Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 270 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493) TCCAGGGCGCCGGGCTCCTCA 0.672000 20 34 0 0 0.00121646 0 0 ABO 28 broad.mit.edu 37 9 136137530 136137530 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:136137530G>A ENST00000453660.2 - 0 81 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) AGCATTATTAGGAAAAGGATC 0.483000 6 35 0 0 0.000157383 0 0 FGD2 221472 broad.mit.edu 37 6 36982774 36982774 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:36982774C>T ENST00000274963.8 + 8 1160 c.989C>T c.(988-990)tCc>tTc p.S330F NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 330 PH 1. 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 CTCAAGATCTCCTTCCGCCGC 0.627000 6 38 0 0 0.000157383 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153271692 153271692 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153271692C>T ENST00000290722.1 - 6 796 c.744G>A c.(742-744)caG>caA p.Q248Q NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 248 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) CGCCACCATCCTGGCCCACCA 0.453000 10 19 0 0 0.000673444 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156618073 156618073 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:156618073C>T ENST00000296518.7 + 3 263 c.54C>T c.(52-54)tcC>tcT p.S18S GUCY1A3_ENST00000511507.1_Silent_p.S18S|GUCY1A3_ENST00000515602.1_Intron|GUCY1A3_ENST00000506455.1_Silent_p.S18S|GUCY1A3_ENST00000393832.3_Intron|GUCY1A3_ENST00000511108.1_Silent_p.S18S|GUCY1A3_ENST00000513574.1_Silent_p.S18S|GUCY1A3_ENST00000455639.2_Silent_p.S18S Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 18 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) GTCCTTTCTCCTTACTGGCAC 0.522000 13 25 0 0 0.00185496 0 0 CTSS 1520 broad.mit.edu 37 1 150722515 150722515 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:150722515C>T ENST00000368985.3 - 6 1020 c.760G>A c.(760-762)Gcg>Acg p.A254T CTSS_ENST00000480760.1_Intron|CTSS_ENST00000448301.2_Missense_Mutation_p.A204T NM_001199739.1|NM_004079.4 NP_001186668.1|NP_004070.3 P25774 CATS_HUMAN cathepsin S 254 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) GGATGACGCGCATCTACACCA 0.398000 11 26 0 0 0.00136819 0 0 CDK3 1018 broad.mit.edu 37 17 73998030 73998030 + Silent SNP C C T rs150589656 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:73998030C>T ENST00000425876.2 + 2 280 c.192C>T c.(190-192)gtC>gtT p.V64V TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.V64V Q00526 CDK3_HUMAN cyclin-dependent kinase 3 64 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CCAACATCGTCCGGTGAGTTG 0.592000 13 27 0 0 0.00185496 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883545 228883545 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:228883545G>A ENST00000392056.3 - 7 2071 c.2025C>T c.(2023-2025)atC>atT p.I675I SPHKAP_ENST00000344657.5_Silent_p.I675I NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 675 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) AATGCCTCAGGATAACATTGG 0.423000 53 129 0 0 0.000781405 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671589 51671589 + RNA SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51671589T>C ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA GGAGCTGGTGTGACCACGGAG 0.627000 8 12 0 0 0.000274275 0 0 UNC45B 146862 broad.mit.edu 37 17 33477204 33477204 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:33477204G>A ENST00000268876.5 + 4 440 c.343G>A c.(343-345)Gag>Aag p.E115K UNC45B_ENST00000591048.1_Missense_Mutation_p.E115K|UNC45B_ENST00000378449.1_Missense_Mutation_p.E115K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E115K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E115K NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 115 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) GAACTTCCAGGAGATGCTGAG 0.597000 27 73 0 0 0.00209593 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39411612 39411612 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:39411612G>A ENST00000361441.3 + 2 310 c.30G>A c.(28-30)aaG>aaA p.K10K APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 10 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) ACCCGATGAAGGCAATGTATC 0.522000 28 52 0 0 0.0024448 0 0 TRIM71 131405 broad.mit.edu 37 3 32932742 32932742 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:32932742C>T ENST00000383763.4 + 4 2109 c.2046C>T c.(2044-2046)ttC>ttT p.F682F NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 682 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCTTCACGTTCGAGGGCCAGT 0.577000 19 15 0 0 0.000958276 0 0 EIF2B2 8892 broad.mit.edu 37 14 75475861 75475861 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:75475861A>T ENST00000266126.5 + 8 1106 c.1026A>T c.(1024-1026)gaA>gaT p.E342D NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 342 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) TGATGAGTGAACTCTACCATC 0.473000 48 63 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141108456 141108456 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:141108456C>T ENST00000389484.3 - 77 12773 c.11802G>A c.(11800-11802)atG>atA p.M3934I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3934 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) TCCAAATAATCATATCTCTTT 0.333000 TSP Lung(27;0.18) 32 66 0 0 0.0024448 0 0 FOXF2 2295 broad.mit.edu 37 6 1390486 1390486 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:1390486C>T ENST00000259806.1 + 1 418 c.304C>T c.(304-306)Ccc>Tcc p.P102S NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 102 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CGAGAAGCCGCCCTACTCGTA 0.731000 14 14 0 0 0.000422831 0 0 LCN9 392399 broad.mit.edu 37 9 138556092 138556092 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:138556092C>T ENST00000277526.3 + 2 181 c.181C>T c.(181-183)Cgg>Tgg p.R61W LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 61 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) GGTCTTCGTCCGGAATATTGA 0.468000 30 95 0 0 0.0024448 0 0 C1orf173 127254 broad.mit.edu 37 1 75037470 75037470 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75037470C>T ENST00000326665.5 - 14 4142 c.3924G>A c.(3922-3924)gcG>gcA p.A1308A C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1308 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGTCCTGCATCGCTTCTGTCT 0.542000 41 121 0 0 0.00285205 0 0 UVSSA 57654 broad.mit.edu 37 4 1343519 1343519 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:1343519C>T ENST00000389851.4 + 3 753 c.306C>T c.(304-306)ccC>ccT p.P102P UVSSA_ENST00000507531.1_Silent_p.P102P|UVSSA_ENST00000511216.1_Silent_p.P102P NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 102 TGCCGCCCCCCAGGGAGGCGG 0.637000 14 12 0 0 0.000308642 0 0 CNBD2 140894 broad.mit.edu 37 20 34596326 34596326 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:34596326G>A ENST00000373973.3 + 9 1251 c.1078G>A c.(1078-1080)Ggg>Agg p.G360R CNBD2_ENST00000349339.1_Missense_Mutation_p.G360R|CNBD2_ENST00000538900.1_Missense_Mutation_p.G360R cyclic nucleotide binding domain containing 2 GGGGCTACAGGGGACAAGCTT 0.493000 31 56 0 0 0.00058488 0 0 SHC3 53358 broad.mit.edu 37 9 91652999 91652999 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:91652999C>T ENST00000375835.4 - 11 1871 c.1565G>A c.(1564-1566)aGg>aAg p.R522K SHC3_ENST00000375831.1_Missense_Mutation_p.R70K|SHC3_ENST00000375830.1_Missense_Mutation_p.R70K NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 522 SH2. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GGTGCTCTTCCTGACCAGGAA 0.602000 97 93 0 0 0.000781405 0 0 PDE3A 5139 broad.mit.edu 37 12 20799717 20799717 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:20799717G>A ENST00000359062.3 + 12 2438 c.2398G>A c.(2398-2400)Gga>Aga p.G800R PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 800 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGACATATGGGATATGTATT 0.378000 25 83 0 0 0.00106085 0 0 MARCO 8685 broad.mit.edu 37 2 119726751 119726751 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:119726751G>A ENST00000327097.4 + 2 248 c.113G>A c.(112-114)aGg>aAg p.R38K MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 38 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AAGCCCAAGAGGAGAAATGGG 0.577000 21 48 0 0 0.000878237 0 0 TTC39C 125488 broad.mit.edu 37 18 21705490 21705490 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:21705490C>T ENST00000540918.2 + 5 725 c.475C>T c.(475-477)Ccc>Tcc p.P159S TTC39C_ENST00000317571.3_Missense_Mutation_p.P466S|TTC39C_ENST00000304621.6_Missense_Mutation_p.P405S Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 466 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 CTGTTCCTTCCCCAACCTGCA 0.458000 18 39 0 0 0.00074312 0 0 TTN 7273 broad.mit.edu 37 2 179589234 179589234 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179589234C>T ENST00000589042.1 - 72 21092 c.20868G>A c.(20866-20868)ccG>ccA p.P6956P TTN_ENST00000591111.1_Silent_p.P6639P|TTN_ENST00000342992.6_Silent_p.P5712P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6639 Ig-like 51. 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) TCACCGTCATCGGTCCTGCCT 0.478000 9 29 0 0 0.000442599 0 0 APOL4 80832 broad.mit.edu 37 22 36587695 36587695 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:36587695G>A ENST00000332987.1 - 7 894 c.472C>T c.(472-474)Cca>Tca p.P158S APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.P161S|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 162 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 GCTGTAAATGGTGCCAACATA 0.552000 8 13 0 0 0.000274275 0 0 FAM135B 51059 broad.mit.edu 37 8 139164781 139164781 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:139164781G>A ENST00000395297.1 - 13 2107 c.1937C>T c.(1936-1938)tCt>tTt p.S646F NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 646 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) CCTCAGGGTAGAACTTAGTGG 0.483000 HNSCC(54;0.14) 12 38 0 0 0.00185496 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62390905 62390905 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:62390905C>T ENST00000281156.4 - 9 1291 c.1013G>A c.(1012-1014)aGa>aAa p.R338K RP1-240B8.3_ENST00000511849.2_RNA NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GTATCCCCCTCTGGCTGACCT 0.493000 22 29 0 0 0.00278032 0 0 ROBO4 54538 broad.mit.edu 37 11 124766556 124766556 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:124766556C>T ENST00000306534.3 - 3 896 c.411G>A c.(409-411)gaG>gaA p.E137E ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 137 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TCTGGAAATCCTCCCGGAGGA 0.612000 4 6 0 0 0.00116845 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950820 14950820 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:14950820C>T ENST00000453695.2 - 14 1750 c.1306G>A c.(1306-1308)Gat>Aat p.D436N DCLRE1C_ENST00000378242.1_Missense_Mutation_p.D209N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.D436N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.D441N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.D436N|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.D441N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.D436N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.D556N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.D436N|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.D441N NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 556 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 AAAACAGTATCAGATTGGCTG 0.438000 Non-homologous end-joining 30 66 0 0 0.00283554 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111734999 111734999 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:111734999C>T ENST00000374595.4 - 9 1382 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K CTNNAL1_ENST00000325551.4_Missense_Mutation_p.E435K|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 435 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) CAGGCATATTCAGCCAAAGCT 0.358000 66 68 0 0 0.000781405 0 0 FAT3 120114 broad.mit.edu 37 11 92533014 92533014 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:92533014G>A ENST00000298047.6 + 9 6852 c.6835G>A c.(6835-6837)Gat>Aat p.D2279N FAT3_ENST00000409404.2_Missense_Mutation_p.D2279N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2129N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2279 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) GCTAGTTAATGATGTAAATGA 0.413000 TCGA Ovarian(4;0.039) 184 244 0 0 0.000781405 0 0 SLC15A3 51296 broad.mit.edu 37 11 60705472 60705472 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:60705472G>A ENST00000227880.3 - 7 1694 c.1461C>T c.(1459-1461)gcC>gcT p.A487A NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 487 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 TGGAGCGCGGGGCCTCTGAGT 0.657000 8 7 0 0 0.000157383 0 0 WDFY3 23001 broad.mit.edu 37 4 85731467 85731467 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:85731467G>A ENST00000322366.6 - 14 2325 c.1918C>T c.(1918-1920)Cgt>Tgt p.R640C WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.R640C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 640 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) GTTCTTGAACGATGGCTTTCT 0.388000 11 16 0 0 0.000673444 0 0 TPTE 7179 broad.mit.edu 37 21 10920116 10920116 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10920116C>T ENST00000298232.7 - 18 1451 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E342K|TPTE_ENST00000361285.4_Missense_Mutation_p.E380K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 380 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.E380K(1)|p.E362K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGAAATTTTTCGCTGTGGGTT 0.393000 13 128 0 0 0.00185496 0 0 THUMPD2 80745 broad.mit.edu 37 2 39993247 39993247 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:39993247G>A ENST00000454352.2 - 6 858 c.856C>T c.(856-858)Ctt>Ttt p.L286F THUMPD2_ENST00000260619.6_Silent_p.I221I|THUMPD2_ENST00000505747.1_Silent_p.I251I Q9BTF0 THUM2_HUMAN THUMP domain containing 2 0 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) GATGTATAAAGATCTGAAAGA 0.328000 23 60 0 0 0.000586117 0 0 SLC39A4 55630 broad.mit.edu 37 8 145641389 145641389 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:145641389G>A ENST00000276833.5 - 1 507 c.204C>T c.(202-204)gtC>gtT p.V68V SLC39A4_ENST00000301305.3_Silent_p.V93V NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 93 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) TGAGGCGGGCGACGTACCTGG 0.721000 4 5 0 0 0.00024832 0 0 F13B 2165 broad.mit.edu 37 1 197026196 197026196 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197026196G>A ENST00000367412.1 - 7 1161 c.1118C>T c.(1117-1119)tCg>tTg p.S373L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 373 Sushi 6. blood coagulation extracellular region p.S373L(1) 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 TATCTCATTCGATCCATGGAG 0.378000 12 42 0 0 0.00185496 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 10 0 0 6.4e-05 0 0 LCE1B 353132 broad.mit.edu 37 1 152785068 152785068 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152785068G>A ENST00000360090.3 + 1 622 c.146G>A c.(145-147)gGa>gAa p.G49E NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 49 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) GTCAGCTCCGGAGGCTGCTGT 0.647000 33 57 0 0 0.00111076 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62817929 62817929 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:62817929G>A ENST00000582986.1 - 0 569 NR_024386.1 CTGTGCCCAGGTCTGAGTCAT 0.537000 14 16 0 0 0.00074312 0 0 LPHN2 23266 broad.mit.edu 37 1 82456779 82456779 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:82456779C>T ENST00000370728.1 + 25 4975 c.4330C>T c.(4330-4332)Cca>Tca p.P1444S LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.P1459S|LPHN2_ENST00000359929.3_Missense_Mutation_p.P1388S|LPHN2_ENST00000370723.1_Missense_Mutation_p.P1446S|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.P1416S|LPHN2_ENST00000335786.5_Missense_Mutation_p.P1401S|LPHN2_ENST00000319517.6_Missense_Mutation_p.P1388S|LPHN2_ENST00000370730.1_Missense_Mutation_p.P1401S|LPHN2_ENST00000271029.4_Missense_Mutation_p.P1416S|LPHN2_ENST00000370721.1_Missense_Mutation_p.P1369S|LPHN2_ENST00000370725.1_Missense_Mutation_p.P1459S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.P1446S O95490 LPHN2_HUMAN latrophilin 2 1444 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) agggtgtattccagAAGGAGA 0.418000 12 29 0 0 0.00136819 0 0 LGSN 51557 broad.mit.edu 37 6 63990433 63990433 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:63990433C>T ENST00000370658.5 - 5 635 c.602G>A c.(601-603)gGa>gAa p.G201E LGSN_ENST00000370657.4_Silent_p.G341G NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 0 glutamine biosynthetic process glutamate-ammonia ligase activity p.G341G(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACCATTTTTTCCCAGTGATCG 0.488000 25 77 0 0 0.00106085 0 0 C4BPA 722 broad.mit.edu 37 1 207307841 207307841 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:207307841G>A ENST00000367070.3 + 9 1371 c.1177G>A c.(1177-1179)Gat>Aat p.D393N NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 393 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTCTATGGAGATGAGATTTC 0.423000 30 68 0 0 0.00178596 0 0 CCDC116 164592 broad.mit.edu 37 22 21988447 21988447 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:21988447T>C ENST00000292779.3 + 3 370 c.209T>C c.(208-210)tTt>tCt p.F70S NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 70 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CCTCAGCCCTTTGGCCACTTT 0.622000 28 67 0 0 0.0024448 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834329 125834329 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:125834329C>T ENST00000299308.3 + 2 392 c.384C>T c.(382-384)tcC>tcT p.S128S TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 128 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) TTGACAGCTCCATCTACTCCA 0.468000 40 91 0 0 0.00222228 0 0 ATP8B4 79895 broad.mit.edu 37 15 50193395 50193395 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:50193395G>A ENST00000284509.6 - 21 2324 c.2183C>T c.(2182-2184)tCc>tTc p.S728F ATP8B4_ENST00000559829.1_Missense_Mutation_p.S728F NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 728 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) ATGGCCATTGGAAAAATTTCT 0.358000 16 25 0 0 0.000422831 0 0 MUC3A 4584 broad.mit.edu 37 7 100552178 100552178 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100552178C>T ENST00000319509.7 + 1 929 c.929C>T c.(928-930)cCc>cTc p.P310L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GAAATAACCCCCTTTTCTTAT 0.478000 78 296 0 0 0.000781405 0 0 SEPHS1 22929 broad.mit.edu 37 10 13371744 13371744 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:13371744G>A ENST00000327347.5 - 6 980 c.605C>T c.(604-606)cCc>cTc p.P202L SEPHS1_ENST00000545675.1_Missense_Mutation_p.P202L|SEPHS1_ENST00000378614.4_Missense_Mutation_p.P202L|SEPHS1_ENST00000537130.1_Missense_Mutation_p.P135L NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 202 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 TGTCCCCAGGGGTTTTGTCAG 0.527000 5 6 0 0 0.00116845 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449605 105449605 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:105449605A>T ENST00000337685.2 + 5 965 c.180A>T c.(178-180)aaA>aaT p.K60N MUM1L1_ENST00000372552.1_Missense_Mutation_p.K60N|MUM1L1_ENST00000357175.2_Missense_Mutation_p.K60N NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 60 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCCTAAATAAATCTCAAATTG 0.388000 11 9 0 0 0.000978159 0 0 MYT1L 23040 broad.mit.edu 37 2 1893143 1893143 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1893143G>T ENST00000399161.2 - 16 3137 c.2390C>A c.(2389-2391)tCc>tAc p.S797Y MYT1L_ENST00000428368.2_Missense_Mutation_p.S795Y NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 797 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTGCTGGGGGGACATGGGCTC 0.622000 17 26 1.67942e-08 6.53693e-08 0.00074312 1 0 UNC13C 440279 broad.mit.edu 37 15 54914563 54914563 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:54914563C>T ENST00000545554.1 + 30 6145 c.6145C>T c.(6145-6147)Cat>Tat p.H2049Y UNC13C_ENST00000260323.11_Missense_Mutation_p.H2049Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H2047Y|UNC13C_ENST00000539562.2_5'UTR Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2049 C2 2. 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) GATATCTGTTCATGTGGACAT 0.428000 29 41 0 0 0.000814825 0 0 ELTD1 64123 broad.mit.edu 37 1 79403547 79403547 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:79403547C>T ENST00000370742.3 - 6 768 c.705G>A c.(703-705)agG>agA p.R235R NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 235 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) TCTGGGATATCCTTAAAGTAG 0.353000 63 177 0 0 0.000781405 0 0 CRB1 23418 broad.mit.edu 37 1 197390665 197390665 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197390665C>T ENST00000367400.3 + 6 1842 c.1707C>T c.(1705-1707)ttC>ttT p.F569F CRB1_ENST00000544212.1_Silent_p.F50F|CRB1_ENST00000543483.1_Silent_p.F268F|CRB1_ENST00000535699.1_Silent_p.F500F|CRB1_ENST00000538660.1_Silent_p.F569F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.F457F 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 30 83 0 0 0.00058488 0 0 FBXO39 162517 broad.mit.edu 37 17 6683194 6683194 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:6683194G>A ENST00000321535.4 + 2 137 c.7G>A c.(7-9)Gaa>Aaa p.E3K NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 3 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 CTGGATGGACGAAGAAAGTGA 0.512000 14 17 0 0 0.000422831 0 0 OR5V1 81696 broad.mit.edu 37 6 29323035 29323035 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29323035G>A ENST00000377154.1 - 4 1237 c.938C>T c.(937-939)tCc>tTc p.S313F OR5V1_ENST00000543825.1_Missense_Mutation_p.S313F Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S313F(2) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATCCAAAGAGGAAATTGGTGG 0.358000 25 58 0 0 0.000586117 0 0 ZNF208 7757 broad.mit.edu 37 19 22156654 22156654 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22156654C>T ENST00000397126.4 - 4 1330 c.1182G>A c.(1180-1182)gaG>gaA p.E394E ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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) TGTAGGGTTTCTCTCCAGTAT 0.383000 30 50 0 0 0.00058488 0 0 CBX7 23492 broad.mit.edu 37 22 39530027 39530027 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:39530027G>A ENST00000216133.5 - 6 830 c.625C>T c.(625-627)Cct>Tct p.P209S CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.P116S NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 209 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) GTCCAGGGAGGGGGCCCCTCG 0.667000 20 52 0 0 0.000586117 0 0 ABHD15 116236 broad.mit.edu 37 17 27889904 27889904 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:27889904G>A ENST00000307201.4 - 2 1252 c.1082C>T c.(1081-1083)cCc>cTc p.P361L RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 361 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 TCCACACACGGGGTCGTCAGC 0.607000 13 45 0 0 0.00185496 0 0 ORC1 4998 broad.mit.edu 37 1 52850381 52850381 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:52850381G>A ENST00000371568.3 - 11 1814 c.1596C>T c.(1594-1596)atC>atT p.I532I ORC1_ENST00000371566.1_Silent_p.I532I NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 532 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGACACCGGAGATGTACATGC 0.517000 9 21 0 0 0.000442599 0 0 ASPM 259266 broad.mit.edu 37 1 197071057 197071057 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:197071057G>A ENST00000367409.4 - 18 7580 c.7324C>T c.(7324-7326)Cga>Tga p.R2442* ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2442 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 ATGGTGGCTCGATATTTCCTC 0.373000 27 60 0 0 0.001512 0 0 ZNF225 7768 broad.mit.edu 37 19 44635117 44635117 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44635117C>T ENST00000262894.6 + 5 630 c.350C>T c.(349-351)tCc>tTc p.S117F ZNF225_ENST00000590612.1_Missense_Mutation_p.S117F|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) TTTCAAGACTCCATGGTAAAC 0.423000 58 155 0 0 0.000781405 0 0 SORCS3 22986 broad.mit.edu 37 10 106918660 106918660 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:106918660C>T ENST00000369701.3 + 11 1867 c.1640C>T c.(1639-1641)tCc>tTc p.S547F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 547 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) CCCTTCTGTTCCTTACATCTG 0.468000 14 27 0 0 0.00121646 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217236 150217236 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:150217236C>T ENST00000313543.4 + 2 331 c.174C>T c.(172-174)gaC>gaT p.D58D NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 58 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGGAGAGACCTTCTTGTTG 0.527000 12 35 0 0 0.00136819 0 0 DNAH5 1767 broad.mit.edu 37 5 13900364 13900364 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13900364G>A ENST00000265104.4 - 15 2314 c.2210C>T c.(2209-2211)tCc>tTc p.S737F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 737 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) CTGGAAGAGGGAAGTTGCCAG 0.408000 Kartagener syndrome 20 46 0 0 0.00278032 0 0 KLK11 11012 broad.mit.edu 37 19 51527411 51527411 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51527411G>A ENST00000594768.1 - 4 634 c.449C>T c.(448-450)tCg>tTg p.S150L KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Missense_Mutation_p.S118L|KLK11_ENST00000391804.3_Missense_Mutation_p.S143L|KLK11_ENST00000453757.3_Missense_Mutation_p.S118L NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 150 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) GGAGACTGGCGATGCCATCTT 0.622000 5 20 0 0 0.00116845 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870042 151870042 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:151870042G>A ENST00000329342.5 + 3 957 c.732G>A c.(730-732)aaG>aaA p.K244K NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 244 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) ATCCCAAGAAGCTGCTCACCC 0.562000 45 33 0 0 0.00285205 0 0 CCDC73 493860 broad.mit.edu 37 11 32674768 32674768 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:32674768G>A ENST00000335185.5 - 12 883 c.840C>T c.(838-840)atC>atT p.I280I CCDC73_ENST00000534415.1_Intron NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 280 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AAGAAATGATGATATCCTTTG 0.303000 21 43 0 0 0.00188189 0 0 CLIP2 7461 broad.mit.edu 37 7 73752881 73752881 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:73752881C>T ENST00000223398.6 + 3 552 c.225C>T c.(223-225)ttC>ttT p.F75F CLIP2_ENST00000361545.5_Silent_p.F75F|CLIP2_ENST00000395060.1_Silent_p.F75F NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 75 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 GGGATGACTTCCTGGGGGACT 0.682000 3 6 0 0 6.4e-05 0 0 ODF2 4957 broad.mit.edu 37 9 131247670 131247670 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131247670C>T ENST00000303890.5 + 15 1830 c.1245C>T c.(1243-1245)tcC>tcT p.S415S ODF2_ENST00000448249.3_Silent_p.S358S|ODF2_ENST00000372807.5_Silent_p.S434S|ODF2_ENST00000393533.2_Silent_p.S439S|ODF2_ENST00000444119.2_Silent_p.S415S|ODF2_ENST00000372796.4_Silent_p.S439S|ODF2_ENST00000351030.3_Silent_p.S434S|ODF2_ENST00000546203.1_Silent_p.S420S|ODF2_ENST00000372791.3_Silent_p.S420S|ODF2_ENST00000434106.2_Silent_p.S439S|ODF2_ENST00000372814.3_Silent_p.S483S NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 439 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AAGCTTTATCCACTCTGGAAT 0.507000 13 21 0 0 0.000308642 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999038 143999038 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:143999038C>T ENST00000323110.2 - 1 221 c.219G>A c.(217-219)caG>caA p.Q73Q NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 73 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) GCCCCAGCTCCTGGAAGGTCT 0.637000 Familial Hyperaldosteronism type I 12 37 0 0 0.00136819 0 0 CSMD3 114788 broad.mit.edu 37 8 113402921 113402921 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:113402921A>T ENST00000297405.5 - 36 6150 c.5906T>A c.(5905-5907)aTc>aAc p.I1969N CSMD3_ENST00000343508.3_Missense_Mutation_p.I1929N|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1899N|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1865N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1969 CUB 11. 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 TGGCACTGTGATCTTCCACAC 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 36 0 0 0.00278032 0 0 DDX17 10521 broad.mit.edu 37 22 38881966 38881966 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38881966G>A ENST00000396821.3 - 13 2269 c.2170C>T c.(2170-2172)Ccc>Tcc p.P724S DDX17_ENST00000444597.1_Missense_Mutation_p.P174S|DDX17_ENST00000381633.3_Missense_Mutation_p.P645S NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 643 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) ggaggagggggaggaggagga 0.478000 23 33 0 0 0.00047179 0 0 ZNF703 80139 broad.mit.edu 37 8 37556185 37556185 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:37556185A>G ENST00000331569.4 + 2 1995 c.1766A>G c.(1765-1767)tAc>tGc p.Y589C NM_025069.1 NP_079345.1 Q9H7S9 ZN703_HUMAN zinc finger protein 703 589 adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding FGFR1/ZNF703(2) breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09) GCGCTGGGATACCAGTAACTA 0.662000 4 21 0 0 0.00024832 0 0 UGT1A4 54657 broad.mit.edu 37 2 234628096 234628096 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234628096G>A ENST00000373409.3 + 1 673 c.630G>A c.(628-630)agG>agA p.R210R UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) TCCTGCAAAGGGTCAAGAACA 0.453000 44 103 0 0 0.000680045 0 0 NTF3 4908 broad.mit.edu 37 12 5604142 5604142 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5604142C>T ENST00000423158.3 + 2 1013 c.801C>T c.(799-801)atC>atT p.I267I NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Silent_p.I254I NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 254 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CGAGAAAAATCGGAAGAACAT 0.368000 10 13 0 0 0.000442599 0 0 ZNF827 152485 broad.mit.edu 37 4 146823949 146823949 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:146823949G>A ENST00000508784.1 - 2 689 c.462C>T c.(460-462)ctC>ctT p.L154L ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.L154L Q17R98 ZN827_HUMAN zinc finger protein 827 154 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) GGGAAAAGGAGAGGTTCGAGC 0.577000 10 44 0 0 0.000673444 0 0 OR6C75 390323 broad.mit.edu 37 12 55759585 55759585 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55759585C>T ENST00000343399.3 + 1 691 c.691C>T c.(691-693)Caa>Taa p.Q231* NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TTCTATGAGTCAAAGGAAAAA 0.383000 23 47 0 0 0.00278032 0 0 CD93 22918 broad.mit.edu 37 20 23064997 23064997 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:23064997C>T ENST00000246006.4 - 1 1980 c.1833G>A c.(1831-1833)gcG>gcA p.A611A NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 611 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCTCCCTCTTCGCTCTCCGCT 0.572000 41 85 0 0 0.00170553 0 0 HSPB9 94086 broad.mit.edu 37 17 40274945 40274945 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:40274945G>A ENST00000355067.3 + 1 190 c.77G>A c.(76-78)cGg>cAg p.R26Q CTD-2132N18.3_ENST00000592574.1_Intron NM_033194.2 NP_149971.1 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, B9 26 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) CTTGCTGAACGGAACCGGGTG 0.602000 22 39 0 0 0.00047179 0 0 RAI2 10742 broad.mit.edu 37 X 17818679 17818679 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:17818679C>T ENST00000545871.1 - 3 1912 c.1452G>A c.(1450-1452)ggG>ggA p.G484G RAI2_ENST00000451717.1_Silent_p.G484G|RAI2_ENST00000415486.3_Silent_p.G434G|RAI2_ENST00000360011.1_Silent_p.G484G|RAI2_ENST00000331511.1_Silent_p.G484G NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 484 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TGGACTCTTCCCCTTGGCTGT 0.478000 138 66 0 0 0.000781405 0 0 COL6A3 1293 broad.mit.edu 37 2 238280867 238280867 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:238280867C>T ENST00000295550.4 - 9 4245 c.3793G>A c.(3793-3795)Ggc>Agc p.G1265S COL6A3_ENST00000347401.3_Missense_Mutation_p.G1064S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1059S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1065S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G858S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1059S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G1059S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G658S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1265 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) GTGTCAAAGCCCACGTCCAGG 0.582000 8 16 0 0 0.000157383 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558545 140558545 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140558545C>T ENST00000239444.2 + 1 1175 c.930C>T c.(928-930)ttC>ttT p.F310F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 310 Cadherin 3. 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) AACTTGATTTCGAAAAATTTC 0.383000 28 184 0 0 0.00127121 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469101 25469101 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25469101G>A ENST00000264709.3 - 11 1694 c.1357C>T c.(1357-1359)Cca>Tca p.P453S DNMT3A_ENST00000321117.5_Missense_Mutation_p.P453S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P264S|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P230S NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 453 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTTGGCTGGTGGAGGTGGT 0.557000 """Mis, F, N, S""" AML 31 83 0 0 0.00058488 0 0 CSF2RA 1438 broad.mit.edu 37 X 1428361 1428361 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:1428361G>A ENST00000381524.3 + 13 1378 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E265K|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E398K|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E398K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E432K|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G338E P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 398 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GACCGTGAAGGAAATTACCTG 0.512000 43 102 0 0 0.0025221 0 0 SNCAIP 9627 broad.mit.edu 37 5 121786421 121786421 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:121786421G>A ENST00000261367.7 + 12 3448 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K SNCAIP_ENST00000379538.3_Missense_Mutation_p.E261K|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E627K|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E567K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E674K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E229K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E185K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 627 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATTGGGAAAGGAAATCTCAGA 0.458000 25 30 0 0 0.000720815 0 0 ARID4B 51742 broad.mit.edu 37 1 235377134 235377134 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:235377134G>A ENST00000264183.3 - 17 2288 c.1791C>T c.(1789-1791)gtC>gtT p.V597V ARID4B_ENST00000366603.2_Silent_p.V597V|ARID4B_ENST00000349213.3_Intron NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding p.V597V(1) 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) CTCCACCTTCGACATCAGAAT 0.383000 42 93 0 0 0.00285205 0 0 PLCH1 23007 broad.mit.edu 37 3 155314091 155314091 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:155314091G>A ENST00000460012.1 - 3 423 c.66C>T c.(64-66)cgC>cgT p.R22R PLCH1_ENST00000340059.7_Silent_p.R40R|PLCH1_ENST00000414191.1_Silent_p.R22R|PLCH1_ENST00000334686.6_Silent_p.R22R|PLCH1_ENST00000494598.1_Silent_p.R40R|PLCH1_ENST00000447496.2_Silent_p.R40R Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 40 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGTAAAAGAGGCGGACAAGCC 0.468000 39 91 0 0 0.0025221 0 0 AFF1 4299 broad.mit.edu 37 4 88055746 88055746 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88055746C>T ENST00000307808.6 + 19 3831 c.3411C>T c.(3409-3411)acC>acT p.T1137T AFF1_ENST00000544085.1_Silent_p.T776T|AFF1_ENST00000395146.4_Silent_p.T1145T NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 1137 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CCCCAGTCACCATCCAGAATA 0.552000 50 106 0 0 0.000781405 0 0 CFLAR 8837 broad.mit.edu 37 2 201994671 201994671 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:201994671T>C ENST00000395148.2 + 2 295 c.83T>C c.(82-84)gTt>gCt p.V28A CFLAR_ENST00000341582.6_Missense_Mutation_p.V28A|CFLAR_ENST00000423241.2_Missense_Mutation_p.V28A|CFLAR_ENST00000340870.5_Missense_Mutation_p.V28A|CFLAR_ENST00000457277.1_Missense_Mutation_p.V28A|CFLAR_ENST00000355558.4_Missense_Mutation_p.V28A|CFLAR_ENST00000342795.5_Missense_Mutation_p.V28A|CFLAR_ENST00000341222.6_Missense_Mutation_p.V28A|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000309955.2_Missense_Mutation_p.V28A|CFLAR_ENST00000440180.1_Missense_Mutation_p.V28A O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 28 DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 TGCCGGGATGTTGCTATAGAT 0.473000 60 103 0 0 0.000781405 0 0 SULT6B1 391365 broad.mit.edu 37 2 37415677 37415677 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:37415677G>A ENST00000535679.1 - 1 106 c.107C>T c.(106-108)cCc>cTc p.P36L SULT6B1_ENST00000260637.3_5'UTR|SULT6B1_ENST00000407963.1_5'UTR|SULT6B1_ENST00000379149.2_Missense_Mutation_p.P36L Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 36 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) CATGGTGATGGGGTAAGGAAT 0.403000 30 28 0 0 0.00178596 0 0 SLC25A31 83447 broad.mit.edu 37 4 128694608 128694608 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:128694608G>A ENST00000281154.4 + 6 995 c.827G>A c.(826-828)gGa>gAa p.G276E NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 276 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 CAACATGAAGGAATCAGTTCC 0.378000 24 35 0 0 0.00278032 0 0 NOS1 4842 broad.mit.edu 37 12 117696204 117696204 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117696204C>T ENST00000317775.6 - 16 3214 c.2529G>A c.(2527-2529)agG>agA p.R843R NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.R843R NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 843 Flavodoxin-like. 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) TCACTTACTTCCTTTCTTCCT 0.493000 17 39 0 0 0.000958276 0 0 TRBC2 28638 broad.mit.edu 37 7 142499083 142499083 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142499083C>T ENST00000466254.1 + 0 359 TCACCCAGATCGTCAGCGCCG 0.597000 16 79 0 0 0.000566183 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39109266 39109266 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:39109266G>A ENST00000297668.6 - 15 2329 c.2256C>T c.(2254-2256)gtC>gtT p.V752V CNTNAP3_ENST00000377656.2_Silent_p.V751V|CNTNAP3_ENST00000358144.2_Silent_p.V664V NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 752 Fibrinogen C-terminal. 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) TTTGGGAAAGGACTATTGTGT 0.443000 7 19 0 0 0.000157383 0 0 TLE1 7088 broad.mit.edu 37 9 84230986 84230986 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:84230986G>A ENST00000376499.3 - 11 1893 c.829C>T c.(829-831)Cgc>Tgc p.R277C TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 277 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TTTAGCAGGCGATTTTTGTCG 0.483000 74 103 0 0 0.000781405 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370608 86370608 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:86370608G>A ENST00000400286.2 - 2 634 c.36C>T c.(34-36)ctC>ctT p.L12L NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 12 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TACAGGCAAGGAGAGATGAAT 0.408000 20 29 0 0 0.00188189 0 0 SPON1 10418 broad.mit.edu 37 11 14276093 14276093 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:14276093G>A ENST00000310358.7 + 0 1445 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) ACCTTCAGCTGAATTTTCCGT 0.493000 13 28 0 0 0.000422831 0 0 FAM57B 83723 broad.mit.edu 37 16 30038064 30038064 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30038064C>T ENST00000380495.4 - 3 1041 c.310G>A c.(310-312)Ggg>Agg p.G104R FAM57B_ENST00000279389.4_Missense_Mutation_p.G54R|FAM57B_ENST00000564806.1_Missense_Mutation_p.G54R NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 104 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CCTCCATGCCCTTTGACCTGG 0.602000 9 26 0 0 0.000442599 0 0 ZNF710 374655 broad.mit.edu 37 15 90610515 90610515 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:90610515C>T ENST00000268154.4 + 2 397 c.146C>T c.(145-147)cCc>cTc p.P49L NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GACCTGGGGCCCGAGCTTTCA 0.672000 16 5 0 0 0.000566183 0 0 GALNT6 11226 broad.mit.edu 37 12 51753032 51753032 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:51753032G>A ENST00000543196.2 - 7 1457 c.1252C>T c.(1252-1254)Ccc>Tcc p.P418S GALNT6_ENST00000356317.3_Missense_Mutation_p.P418S Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 418 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 GTGCCCTTGGGGAAGGTGTGG 0.557000 41 112 0 0 0.00285205 0 0 PRKCI 5584 broad.mit.edu 37 3 170013699 170013699 + Splice_Site SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:170013699T>A ENST00000295797.4 + 15 1723 c.1417_splice c.e15-1 p.V473_splice NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 473 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) ATCTTTCTAGTTATTTTGGAA 0.303000 16 48 0 0 0.000566183 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131142 55131142 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:55131142G>A ENST00000257290.5 + 5 1016 c.685G>A c.(685-687)Gaa>Aaa p.E229K FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 229 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TAAGTCAGGGGAAACGATTGT 0.423000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 49 83 0 0 0.000781405 0 0 DUSP10 11221 broad.mit.edu 37 1 221875831 221875831 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:221875831A>G ENST00000366899.3 - 4 1610 c.1372T>C c.(1372-1374)Ttc>Ctc p.F458L DUSP10_ENST00000323825.3_Missense_Mutation_p.F116L|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_Missense_Mutation_p.F116L NM_007207.4 NP_009138.1 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 458 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(131;0.0103) TCTTCCTCGAACTCTAGCAAC 0.468000 40 120 0 0 0.00285205 0 0 COL14A1 7373 broad.mit.edu 37 8 121381652 121381652 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:121381652C>T ENST00000297848.3 + 47 5509 c.5239C>T c.(5239-5241)Cct>Tct p.P1747S COL14A1_ENST00000309791.4_Missense_Mutation_p.P1747S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1652S NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1747 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.P1747S(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTGGGGGTTCCTGGACCCCA 0.597000 19 48 0 0 0.00229938 0 0 FBXL2 25827 broad.mit.edu 37 3 33400467 33400467 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:33400467C>T ENST00000484457.1 + 3 165 c.74C>T c.(73-75)tCc>tTc p.S25F FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000538892.1_Missense_Mutation_p.S25F|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.S25F NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 25 F-box. interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 AGAATATTTTCCTTCTTGGAT 0.323000 12 14 0 0 0.00136819 0 0 GLP1R 2740 broad.mit.edu 37 6 39034008 39034008 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:39034008C>T ENST00000373256.4 + 5 481 c.438C>T c.(436-438)atC>atT p.I146I NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 146 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) TCCTCTACATCATCTACACGG 0.612000 5 26 0 0 0.00198382 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3677938 3677938 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3677938G>A ENST00000344754.4 - 9 2173 c.2174C>T c.(2173-2175)gCc>gTc p.A725V SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A725V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 725 Ig-like C2-type 7. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGTCAAGTTGGCTTCTGTGCC 0.632000 10 31 0 0 0.000978159 0 0 VWC2L 402117 broad.mit.edu 37 2 215279114 215279114 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:215279114G>A ENST00000312504.5 + 2 999 c.197G>A c.(196-198)cGa>cAa p.R66Q VWC2L_ENST00000427124.1_Missense_Mutation_p.R66Q|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 66 VWFC 1. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TTGGGAGAACGATTTTTCCCT 0.458000 16 22 0 0 0.000308642 0 0 NOL4 8715 broad.mit.edu 37 18 31537410 31537410 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:31537410C>T ENST00000261592.5 - 8 1605 c.1308G>A c.(1306-1308)aaG>aaA p.K436K NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron|NOL4_ENST00000535384.1_Silent_p.K151K|NOL4_ENST00000538587.1_Silent_p.K362K|NOL4_ENST00000269185.4_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 436 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 TAGCCTGGATCTTTTCTTTGG 0.478000 13 47 0 0 0.00185496 0 0 CELSR1 9620 broad.mit.edu 37 22 46780573 46780573 + Silent SNP G G A rs147996421 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:46780573G>A ENST00000262738.3 - 20 6749 c.6750C>T c.(6748-6750)gtC>gtT p.V2250V NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2250 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) CAAAGATGTCGACAGCAAGAA 0.517000 17 42 0 0 0.00188189 0 0 TENM3 55714 broad.mit.edu 37 4 183664419 183664419 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:183664419C>T ENST00000511685.1 + 19 3599 c.3476C>T c.(3475-3477)tCc>tTc p.S1159F TENM3_ENST00000406950.2_Missense_Mutation_p.S1159F|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CGCAGCATTTCCTGCCCCAGT 0.537000 14 20 0 0 0.000308642 0 0 GPR97 222487 broad.mit.edu 37 16 57707306 57707306 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:57707306G>A ENST00000333493.4 + 2 293 c.132G>A c.(130-132)ttG>ttA p.L44L GPR97_ENST00000450388.3_5'UTR|GPR97_ENST00000327655.6_5'UTR NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 44 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCTTCAACTTGAATGACAAGG 0.547000 18 23 0 0 0.00188189 0 0 TTI2 80185 broad.mit.edu 37 8 33360971 33360971 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:33360971A>T ENST00000431156.2 - 6 1853 c.1235T>A c.(1234-1236)cTt>cAt p.L412H TTI2_ENST00000520636.1_Missense_Mutation_p.L381H|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.L412H NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 412 binding TTGCATGAGAAGTTTTAGGGT 0.428000 36 87 0 0 0.00058488 0 0 IGHV2-26 28455 broad.mit.edu 37 14 106757745 106757745 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:106757745G>A ENST00000390611.2 - 0 285 GAGATGGTGAGCCTGCTCTTC 0.527000 31 44 0 0 0.00283554 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464486 5464486 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:5464486C>T ENST00000296564.7 + 13 5261 c.5039C>T c.(5038-5040)gCc>gTc p.A1680V NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1680 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 GTGCCTCCTGCCATGTCTCCA 0.577000 62 113 0 0 0.000781405 0 0 MICALL1 85377 broad.mit.edu 37 22 38323579 38323579 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38323579C>T ENST00000215957.6 + 9 1753 c.1627C>T c.(1627-1629)Cat>Tat p.H543Y MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 543 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GCCTGCTGTCCATGCCCCTGG 0.617000 32 60 0 0 0.0024448 0 0 HIVEP3 59269 broad.mit.edu 37 1 41976638 41976638 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:41976638G>A ENST00000372584.1 - 8 7716 c.6702C>T c.(6700-6702)gcC>gcT p.A2234A HIVEP3_ENST00000429157.2_Silent_p.A2234A|HIVEP3_ENST00000372583.1_Silent_p.A2235A|HIVEP3_ENST00000247584.5_Silent_p.A2235A|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2235 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) GGGCCTCCCGGGCCCCTGTCA 0.697000 25 24 0 0 0.00106085 0 0 SIM1 6492 broad.mit.edu 37 6 100841753 100841753 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:100841753G>A ENST00000369208.3 - 11 1962 c.1180C>T c.(1180-1182)Cac>Tac p.H394Y SIM1_ENST00000262901.4_Missense_Mutation_p.H394Y P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 394 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTTTCTGTGTGAAATCCCGAA 0.478000 8 37 0 0 0.000274275 0 0 FOXB1 27023 broad.mit.edu 37 15 60297304 60297304 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:60297304C>T ENST00000396057.4 + 2 621 c.142C>T c.(142-144)Ccc>Tcc p.P48S FOXB1_ENST00000560857.1_Intron NM_012182.2 NP_036314.2 Q99853 FOXB1_HUMAN forkhead box B1 48 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning 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 central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 GGACCGCTTCCCCTACTACAG 0.597000 22 29 0 0 0.00152264 0 0 COL14A1 7373 broad.mit.edu 37 8 121298182 121298182 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:121298182G>A ENST00000297848.3 + 33 4320 c.4050G>A c.(4048-4050)agG>agA p.R1350R COL14A1_ENST00000309791.4_Silent_p.R1350R|COL14A1_ENST00000247781.3_Silent_p.R1255R NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1350 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTGAAATTAGGAAAATTTTTT 0.303000 15 40 0 0 0.000422831 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951736 119951736 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:119951736C>T ENST00000307142.4 + 4 2002 c.1806C>T c.(1804-1806)ccC>ccT p.P602P SYNPO2_ENST00000429713.2_Silent_p.P602P|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.P602P NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 602 Pro-rich. 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 CAGCTACCCCCTTCTCGCCAA 0.567000 31 63 0 0 0.00283554 0 0 LARP1 23367 broad.mit.edu 37 5 154174820 154174820 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:154174820C>T ENST00000336314.4 + 8 1111 c.1087C>T c.(1087-1089)Ctt>Ttt p.L363F NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 440 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACCCATCACCCTTATTGCTTC 0.493000 13 41 0 0 0.00244969 0 0 DSG3 1830 broad.mit.edu 37 18 29046704 29046704 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:29046704C>T ENST00000257189.4 + 11 1706 c.1623C>T c.(1621-1623)atC>atT p.I541I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 541 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TATGGAGTATCACAACCCTCA 0.423000 18 43 0 0 0.000958276 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814447 23814447 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:23814447C>T ENST00000264867.2 - 10 2061 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 648 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) CGATATTCTTCCCTCTTCAGC 0.468000 55 103 0 0 0.000781405 0 0 CNTRL 11064 broad.mit.edu 37 9 123886359 123886359 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:123886359G>A ENST00000373855.1 + 13 2061 c.1801G>A c.(1801-1803)Gaa>Aaa p.E601K CNTRL_ENST00000373850.1_Missense_Mutation_p.E49K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E601K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E49K Q7Z7A1 CNTRL_HUMAN centriolin 601 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ACAGCTTACTGAAGGTAAGAC 0.348000 31 71 0 0 0.0024448 0 0 CDK18 5129 broad.mit.edu 37 1 205497015 205497015 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205497015G>A ENST00000360066.2 + 9 1124 c.823G>A c.(823-825)Gag>Aag p.E275K CDK18_ENST00000506784.1_Missense_Mutation_p.E305K|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Missense_Mutation_p.E275K NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 273 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 GCTCATCAACGAGAGGGGGGA 0.647000 17 45 0 0 0.00188189 0 0 DRG1 4733 broad.mit.edu 37 22 31829903 31829903 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:31829903G>A ENST00000331457.4 + 9 1211 c.1050G>A c.(1048-1050)gtG>gtA p.V350V NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 350 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 CTCAGAAAGTGGGTAAAGACC 0.463000 23 60 0 0 0.000878237 0 0 CACNG3 10368 broad.mit.edu 37 16 24373007 24373007 + Silent SNP C C T rs144805488 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:24373007C>T ENST00000005284.3 + 4 1973 c.771C>T c.(769-771)atC>atT p.I257I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 257 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) TCCACACCATCCCTTCCACTG 0.592000 16 50 0 0 0.000308642 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253727 81253727 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:81253727C>T ENST00000599697.1 - 1 248 c.249G>A c.(247-249)agG>agA p.R83R PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 83 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TCCACCATTCCCTGTCCTGGG 0.537000 14 27 0 0 0.00244969 0 0 TSLP 85480 broad.mit.edu 37 5 110407731 110407731 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:110407731C>T ENST00000420978.2 + 2 1565 c.143C>T c.(142-144)tCt>tTt p.S48F TSLP_ENST00000344895.3_Missense_Mutation_p.S48F Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 48 extracellular space cytokine activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) AGTACTATTTCTAAAGACCTG 0.358000 18 46 0 0 0.00121646 0 0 ANK3 288 broad.mit.edu 37 10 61833876 61833876 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:61833876G>A ENST00000280772.1 - 37 6954 c.6763C>T c.(6763-6765)Cat>Tat p.H2255Y 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) 2255 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 GGTGGAGAATGATAAACCATT 0.463000 32 55 0 0 0.000692331 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767740 143767740 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:143767740G>A ENST00000419275.1 - 1 141 c.109C>T c.(109-111)Cgt>Tgt p.R37C NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 37 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CTCAGAGCACGAAAGTTTTCT 0.478000 54 218 0 0 0.000781405 0 0 ITGA7 3679 broad.mit.edu 37 12 56090745 56090745 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56090745C>T ENST00000257880.7 - 13 2026 c.1807G>A c.(1807-1809)Ggc>Agc p.G603S ITGA7_ENST00000394230.2_Missense_Mutation_p.G563S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G603S|ITGA7_ENST00000257879.6_Missense_Mutation_p.G559S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G466S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G559S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G553S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G563S Q13683 ITA7_HUMAN integrin, alpha 7 603 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 CACACGGTGCCCGAGGCCTGG 0.602000 14 21 0 0 0.000308642 0 0 BRSK1 84446 broad.mit.edu 37 19 55817700 55817700 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55817700C>T ENST00000309383.1 + 17 2248 c.1971C>T c.(1969-1971)ttC>ttT p.F657F BRSK1_ENST00000326848.7_Silent_p.F352F|BRSK1_ENST00000590333.1_Silent_p.F673F NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 657 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCTCCGTCTTCCAAAAGCCCG 0.637000 12 34 0 0 0.00244969 0 0 AGO3 192669 broad.mit.edu 37 1 36439011 36439011 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:36439011C>T ENST00000373191.4 + 5 906 c.557C>T c.(556-558)cCa>cTa p.P186L AGO3_ENST00000324350.5_Missense_Mutation_p.P186L|AGO3_ENST00000246314.6_Intron|AGO3_ENST00000397828.2_Missense_Mutation_p.P186L NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 TTCTCCGCTCCAGAAGGATAT 0.443000 63 77 0 0 0.000781405 0 0 ARL6IP1 23204 broad.mit.edu 37 16 18806878 18806878 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:18806878G>A ENST00000304414.7 - 4 527 c.316C>T c.(316-318)Cat>Tat p.H106Y ARL6IP1_ENST00000546206.2_Missense_Mutation_p.H77Y|ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.H106Y NM_015161.1 NP_055976.1 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting protein 1 106 integral to membrane protein binding breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1) 11 CAAATTTCATGGAATCTTTGC 0.378000 15 29 0 0 0.000308642 0 0 PSAT1 29968 broad.mit.edu 37 9 80916931 80916931 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:80916931G>A ENST00000376588.3 + 3 251 c.183G>A c.(181-183)cgG>cgA p.R61R PSAT1_ENST00000347159.2_Silent_p.R61R NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 61 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) ATCTTGTGCGGGAATTGCTGT 0.318000 12 45 0 0 0.00136819 0 0 HJURP 55355 broad.mit.edu 37 2 234749336 234749336 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234749336G>A ENST00000411486.2 - 8 2155 c.2090C>T c.(2089-2091)tCc>tTc p.S697F HJURP_ENST00000432087.1_Missense_Mutation_p.S643F|HJURP_ENST00000441687.1_Missense_Mutation_p.S612F NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 697 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GGCACCCAGGGAATTGCCCTG 0.597000 19 73 0 0 0.00121646 0 0 SCEL 8796 broad.mit.edu 37 13 78214846 78214846 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:78214846G>A ENST00000535157.1 + 29 1918 c.1748G>A c.(1747-1749)cGa>cAa p.R583Q SCEL_ENST00000377246.3_Missense_Mutation_p.R605Q|SCEL_ENST00000349847.3_Missense_Mutation_p.R625Q NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 625 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) ACTTACTGCCGAAAACCCTTG 0.313000 24 41 0 0 0.00127121 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658837 72658837 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72658837G>A ENST00000425256.1 - 0 1074 NR_002164.1 gtacttccacgaagaaaaatg 0.413000 59 151 0 0 0.000781405 0 0 SZT2 23334 broad.mit.edu 37 1 43909141 43909141 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:43909141A>T ENST00000562955.1 + 60 8447 c.8447A>T c.(8446-8448)gAc>gTc p.D2816V SZT2_ENST00000372442.1_Missense_Mutation_p.D1974V NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2873 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGACCCCCTGACGGGCAGGTA 0.612000 16 16 0 0 0.00121646 0 0 CAPSL 133690 broad.mit.edu 37 5 35904728 35904728 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35904728C>T ENST00000397367.2 - 5 672 c.546G>A c.(544-546)atG>atA p.M182I CAPSL_ENST00000397366.1_Missense_Mutation_p.M182I NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 182 EF-hand 4. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CATAGTAGTTCATGAACTCCT 0.478000 26 57 0 0 0.00106085 0 0 HYAL4 23553 broad.mit.edu 37 7 123509272 123509272 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:123509272C>T ENST00000223026.4 + 3 1583 c.945C>T c.(943-945)ttC>ttT p.F315F HYAL4_ENST00000476325.1_Silent_p.F315F NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 315 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 CTTTATTTTTCCTTTCTAAGG 0.378000 7 16 0 0 0.00198382 0 0 PDS5A 23244 broad.mit.edu 37 4 39929623 39929623 + Silent SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:39929623G>T ENST00000303538.8 - 3 839 c.300C>A c.(298-300)atC>atA p.I100I PDS5A_ENST00000503396.1_Silent_p.I100I NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 100 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CTGGGGCATAGATACGAAAGA 0.398000 7 19 1.06961e-07 4.15818e-07 0.000157383 1 0 BTN1A1 696 broad.mit.edu 37 6 26508953 26508953 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:26508953A>T ENST00000244513.6 + 7 1198 c.1132A>T c.(1132-1134)Aat>Tat p.N378Y NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 378 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GTGTAGGGAGAATGTGATGAA 0.557000 30 124 0 0 0.00209593 0 0 MUC16 94025 broad.mit.edu 37 19 9077276 9077276 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9077276G>A ENST00000397910.4 - 3 10373 c.10170C>T c.(10168-10170)acC>acT p.T3390T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3391 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 CCCATGTCTCGGTTTTATGTT 0.443000 70 167 0 0 0.000781405 0 0 TPO 7173 broad.mit.edu 37 2 1457514 1457514 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1457514C>T ENST00000345913.4 + 6 622 c.531C>T c.(529-531)ctC>ctT p.L177L TPO_ENST00000382201.3_Silent_p.L177L|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Silent_p.L177L|TPO_ENST00000382198.1_Silent_p.L177L|TPO_ENST00000349624.3_Silent_p.L177L|TPO_ENST00000346956.3_Silent_p.L177L|TPO_ENST00000337415.3_Silent_p.L177L NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 177 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CACGATGGCTCCCTCCAGTCT 0.597000 27 60 0 0 0.000878237 0 0 FLNC 2318 broad.mit.edu 37 7 128495345 128495345 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128495345C>T ENST00000325888.8 + 43 7489 c.7228C>T c.(7228-7230)Cgt>Tgt p.R2410C RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2377C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2410 Interaction with INPPL1. 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 TGACGCTCGCCGTCTCACTGT 0.592000 17 32 0 0 0.00074312 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74819696 74819696 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:74819696C>T ENST00000370895.1 + 13 1398 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455C|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R455C|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R455C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354C Q59H18 TNI3K_HUMAN 354 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding p.R354C(1) CGGTCACATTCGCCTGGTTCA 0.398000 57 46 0 0 0.000781405 0 0 PHC3 80012 broad.mit.edu 37 3 169820598 169820598 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169820598G>A ENST00000494943.1 - 13 2625 c.2557C>T c.(2557-2559)Ctt>Ttt p.L853F PHC3_ENST00000467570.1_Missense_Mutation_p.L812F|PHC3_ENST00000495893.1_Missense_Mutation_p.L865F Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 853 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655) ACCTGCCTAAGGATATGTTCT 0.443000 18 32 0 0 0.00188189 0 0 KCNC3 3748 broad.mit.edu 37 19 50827028 50827028 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50827028G>A ENST00000376959.2 - 2 1345 c.1182C>T c.(1180-1182)ctC>ctT p.L394L KCNC3_ENST00000477616.1_Silent_p.L394L|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 394 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GGCCCACCTCGAGATAGAAGG 0.587000 17 27 0 0 0.00074312 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74394547 74394547 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:74394547G>A ENST00000429810.2 - 0 418 TGCTCCAAAAGGACAATATCC 0.552000 13 37 0 0 0.000308642 0 0 PPIG 9360 broad.mit.edu 37 2 170460756 170460756 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:170460756C>T ENST00000260970.3 + 4 341 c.121C>T c.(121-123)Cgt>Tgt p.R41C PPIG_ENST00000462903.1_Missense_Mutation_p.R41C|PPIG_ENST00000448752.2_Missense_Mutation_p.R41C|PPIG_ENST00000409714.3_Missense_Mutation_p.R41C NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 41 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) CGAGAACTTTCGTTGTCTTTG 0.343000 41 97 0 0 0.000781405 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962505 69962505 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:69962505C>T ENST00000305231.7 + 1 313 c.267C>T c.(265-267)ttC>ttT p.F89F UGT2B7_ENST00000508661.1_Silent_p.F89F|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 89 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGAGAATTTCATCATGCAAC 0.338000 22 51 0 0 0.00152264 0 0 APOL1 8542 broad.mit.edu 37 22 36661836 36661836 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:36661836G>A ENST00000319136.4 + 7 1269 c.1002G>A c.(1000-1002)gtG>gtA p.V334V APOL1_ENST00000426053.1_Silent_p.V300V|APOL1_ENST00000397278.3_Silent_p.V318V|APOL1_ENST00000397279.4_Silent_p.V318V|APOL1_ENST00000347595.7_Silent_p.V197V|APOL1_ENST00000422706.1_Silent_p.V318V NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 318 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 GTGAACAGGTGGAGAGGGTTA 0.557000 22 39 0 0 0.00188189 0 0 RFX6 222546 broad.mit.edu 37 6 117246660 117246660 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117246660C>T ENST00000332958.2 + 16 1739 c.1723C>T c.(1723-1725)Ctg>Ttg p.L575L NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 575 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTCATGCTTTCTGGCCAACCG 0.458000 62 112 0 0 0.000781405 0 0 ACSM2A 123876 broad.mit.edu 37 16 20477027 20477027 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:20477027G>A ENST00000573854.1 + 3 480 c.366G>A c.(364-366)gtG>gtA p.V122V ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.V122V|ACSM2A_ENST00000575690.1_Silent_p.V122V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.V122V|ACSM2A_ENST00000219054.6_Silent_p.V122V|ACSM2A_ENST00000417235.2_Silent_p.V43V NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 122 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 GGTGGCTGGTGATCCTGGGCT 0.587000 7 22 0 0 0.00198382 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020207 156020207 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156020207G>A ENST00000368309.3 - 4 708 c.616C>T c.(616-618)Cag>Tag p.Q206* UBQLN4_ENST00000368307.1_Intron|UBQLN4_ENST00000472638.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 206 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) ATCATATCCTGGACCAGGGGG 0.547000 27 69 0 0 0.00178596 0 0 SCN9A 6335 broad.mit.edu 37 2 167108321 167108321 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:167108321C>T ENST00000375387.4 - 18 3769 c.3429G>A c.(3427-3429)gaG>gaA p.E1143E AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.E1143E|SCN9A_ENST00000409435.1_Silent_p.E1142E|SCN9A_ENST00000409672.1_Silent_p.E1131E Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1142 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) TAGGTTCAGCCTCTGCTTCTT 0.463000 14 40 0 0 0.00244969 0 0 FER1L6 654463 broad.mit.edu 37 8 125076785 125076785 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:125076785C>T ENST00000522917.1 + 26 3732 c.3526C>T c.(3526-3528)Cag>Tag p.Q1176* FER1L6_ENST00000399018.1_Nonsense_Mutation_p.Q1176*|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1176 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) ACCTGTAGCCCAGGAGCCACC 0.532000 11 28 0 0 0.000978159 0 0 PLB1 151056 broad.mit.edu 37 2 28775804 28775804 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:28775804G>A ENST00000422425.2 + 17 1170 c.1126G>A c.(1126-1128)Gga>Aga p.G376R PLB1_ENST00000329020.6_Missense_Mutation_p.G53R|PLB1_ENST00000327757.5_Missense_Mutation_p.G365R NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 365 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GGTAAGAGAAGGAGCGGAAAT 0.443000 40 102 0 0 0.00285205 0 0 USP33 23032 broad.mit.edu 37 1 78183733 78183733 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:78183733C>T ENST00000370793.1 - 18 2177 c.e18-1 USP33_ENST00000370794.3_Splice_Site|USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370792.3_Splice_Site NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TGCACAAAATCTAAAAAAGAA 0.308000 34 52 0 0 0.000692331 0 0 WRNIP1 56897 broad.mit.edu 37 6 2779539 2779539 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:2779539T>C ENST00000380769.4 + 4 870 c.639T>C c.(637-639)gcT>gcC p.A213A WRNIP1_ENST00000380764.1_Silent_p.A49A|WRNIP1_ENST00000380771.4_Silent_p.A408A|WRNIP1_ENST00000380773.4_Silent_p.A433A Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 433 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) ACACCCTGGCTTACCTCAGTG 0.537000 19 80 0 0 0.00278032 0 0 COL4A4 1286 broad.mit.edu 37 2 227920746 227920746 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:227920746C>T ENST00000396625.3 - 30 2838 c.2631G>A c.(2629-2631)cgG>cgA p.R877R COL4A4_ENST00000329662.7_Silent_p.R877R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 877 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) GTGCCCCAGGCCGTCCTGGGA 0.622000 12 26 0 0 0.000978159 0 0 XIRP2 129446 broad.mit.edu 37 2 168103798 168103798 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168103798C>T ENST00000409195.1 + 9 5985 c.5896C>T c.(5896-5898)Cag>Tag p.Q1966* XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q1966*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q1744* NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1791 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 AGATATTCATCAGGTTGCTGT 0.448000 17 36 0 0 0.000566183 0 0 C9orf114 51490 broad.mit.edu 37 9 131589467 131589467 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131589467C>A ENST00000361256.5 - 4 252 c.212G>T c.(211-213)cGg>cTg p.R71L NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 71 kidney(2)|large_intestine(4)|ovary(1) 7 TGTGTAGGGCCGCCCTGAGCA 0.617000 11 21 0.000673444 0.0026062 0.000673444 1 0 FAM135A 57579 broad.mit.edu 37 6 71234783 71234783 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:71234783C>T ENST00000418814.2 + 15 2610 c.1996C>T c.(1996-1998)Cct>Tct p.P666S FAM135A_ENST00000457062.2_Missense_Mutation_p.P453S|FAM135A_ENST00000370479.3_Missense_Mutation_p.P453S|FAM135A_ENST00000361499.3_Missense_Mutation_p.P470S|FAM135A_ENST00000505868.1_Missense_Mutation_p.P666S|FAM135A_ENST00000505769.1_Missense_Mutation_p.P470S NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 666 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 TAATAAAGATCCTTTCAGTGG 0.403000 20 42 0 0 0.000958276 0 0 OR2F1 26211 broad.mit.edu 37 7 143657981 143657981 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143657981G>A ENST00000392899.1 + 1 955 c.918G>A c.(916-918)tgG>tgA p.W306* NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W306C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AACTATTATGGAAATTCTCTG 0.433000 14 46 0 0 0.00185496 0 0 IBTK 25998 broad.mit.edu 37 6 82924095 82924095 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:82924095C>T ENST00000306270.7 - 12 2602 c.2053G>A c.(2053-2055)Gtt>Att p.V685I IBTK_ENST00000510291.1_Missense_Mutation_p.V685I|IBTK_ENST00000503631.1_Intron NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 685 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CTTTTGTAAACTTCAAATGCA 0.333000 23 76 0 0 0.00278032 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126557 31126557 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:31126557G>A ENST00000304166.4 + 11 1113 c.823_splice c.e11-1 p.G275_splice ADCYAP1R1_ENST00000409489.1_Splice_Site_p.G275_splice|ADCYAP1R1_ENST00000409363.1_Splice_Site_p.G254_splice|ADCYAP1R1_ENST00000396211.2_Splice_Site_p.G275_splice 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 275 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 GTTCTCCCAGGGACCCCAACT 0.537000 27 81 0 0 0.00283554 0 0 MGAM 8972 broad.mit.edu 37 7 141722180 141722180 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141722180C>T ENST00000475668.2 + 7 877 c.823C>T c.(823-825)Cgg>Tgg p.R275W MGAM_ENST00000549489.2_Missense_Mutation_p.R275W O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 275 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) CCAGCAGTATCGGCATGATAT 0.493000 38 75 0 0 0.0025221 0 0 DTX3L 151636 broad.mit.edu 37 3 122287933 122287933 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122287933C>T ENST00000296161.4 + 3 1186 c.997C>T c.(997-999)Ctt>Ttt p.L333F DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 333 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) TACAAAGCTCCTTATAAAGGA 0.398000 44 126 0 0 0.000680045 0 0 GLRB 2743 broad.mit.edu 37 4 158057999 158057999 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:158057999C>T ENST00000264428.4 + 6 841 c.571C>T c.(571-573)Ccc>Tcc p.P191S GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.P191S|GLRB_ENST00000541722.1_Missense_Mutation_p.P191S NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 191 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) GACATTGTTTCCCATGGATAC 0.348000 21 38 0 0 0.00229938 0 0 GATSL3 652968 broad.mit.edu 37 22 30682330 30682330 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:30682330G>A ENST00000407689.3 - 6 794 c.665C>T c.(664-666)cCc>cTc p.P222L GATSL3_ENST00000404953.3_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 GATGGAGCTGGGTTCAGGACT 0.582000 23 43 0 0 0.000720815 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759211 121759211 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:121759211A>T ENST00000261367.7 + 6 2348 c.920A>T c.(919-921)aAc>aTc p.N307I SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.N307I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.N260I|SNCAIP_ENST00000379536.2_Missense_Mutation_p.N260I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.N307I|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000542191.1_Intron Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 260 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GACTTCCTAAACAAGACATTT 0.473000 12 28 0 0 0.000978159 0 0 ZNF560 147741 broad.mit.edu 37 19 9579814 9579814 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9579814A>G ENST00000301480.4 - 9 792 c.579T>C c.(577-579)aaT>aaC p.N193N NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TTAAACAAAAATTATCTTGCC 0.313000 9 17 0 0 0.00136819 0 0 ADCY1 107 broad.mit.edu 37 7 45743296 45743296 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:45743296G>A ENST00000297323.7 + 16 2691 c.2669G>A c.(2668-2670)gGg>gAg p.G890E NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 890 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) AACAACATGGGGGTGGAGTGT 0.582000 30 62 0 0 0.000814825 0 0 PLCB4 5332 broad.mit.edu 37 20 9319670 9319670 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:9319670C>T ENST00000378501.2 + 4 370 c.355C>T c.(355-357)Cca>Tca p.P119S PLCB4_ENST00000378473.3_Missense_Mutation_p.P119S|PLCB4_ENST00000414679.2_Missense_Mutation_p.P119S|PLCB4_ENST00000378493.1_Missense_Mutation_p.P119S|PLCB4_ENST00000334005.3_Missense_Mutation_p.P119S|PLCB4_ENST00000278655.4_Missense_Mutation_p.P119S|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 119 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 GGCTGAAAATCCAGAAGTAAC 0.378000 15 33 0 0 0.000958276 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879386 3879386 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:3879386G>A ENST00000315677.3 - 4 1278 c.683C>T c.(682-684)cCc>cTc p.P228L DLGAP1_ENST00000515196.2_Missense_Mutation_p.P228L|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.P228L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P228L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 228 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGAGCGGTCGGGGCACCTGCC 0.652000 29 43 0 0 0.001512 0 0 UBA1 7317 broad.mit.edu 37 X 47065788 47065788 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:47065788C>T ENST00000335972.6 + 16 2066 c.1883C>T c.(1882-1884)tCc>tTc p.S628F UBA1_ENST00000377351.4_Missense_Mutation_p.S628F|UBA1_ENST00000490869.1_3'UTR NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 628 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCTGAGAAGTCCATCCCCATC 0.572000 11 12 0 0 0.00185496 0 0 CA8 767 broad.mit.edu 37 8 61178492 61178492 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:61178492G>A ENST00000317995.4 - 3 673 c.409C>T c.(409-411)Ccc>Tcc p.P137S NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 137 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) ACCTCCATGGGAAAAGCTTTG 0.358000 9 24 0 0 0.000978159 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077592 19077592 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:19077592G>A ENST00000329773.2 - 2 445 c.358C>T c.(358-360)Ctg>Ttg p.L120L NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 120 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 ACGGTGCTCAGCATGCTCAGG 0.587000 18 55 0 0 0.00074312 0 0 PSG4 5672 broad.mit.edu 37 19 43699191 43699191 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43699191C>T ENST00000405312.3 - 4 1181 c.944G>A c.(943-945)cGa>cAa p.R315Q PSG4_ENST00000433626.2_Missense_Mutation_p.R222Q|PSG4_ENST00000244295.9_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 315 Ig-like C2-type 2. 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) GCCACCATATCGGTCCCGTAT 0.488000 58 119 0 0 0.000781405 0 0 PRRC2B 84726 broad.mit.edu 37 9 134366900 134366900 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:134366900C>T ENST00000357304.4 + 28 6369 c.6314C>T c.(6313-6315)tCc>tTc p.S2105F PRRC2B_ENST00000405995.1_Missense_Mutation_p.S1411F|PRRC2B_ENST00000372249.1_Missense_Mutation_p.S202F|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S1411F|PRRC2B_ENST00000465931.1_3'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2105 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CAGAGCCTCTCCGTTGGGGCC 0.672000 8 31 0 0 0.000157383 0 0 MYH11 4629 broad.mit.edu 37 16 15841453 15841453 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:15841453C>T ENST00000338282.6 - 19 2491 c.2385G>A c.(2383-2385)gcG>gcA p.A795A MYH11_ENST00000300036.5_Silent_p.A795A|MYH11_ENST00000396324.3_Silent_p.A802A|MYH11_ENST00000452625.2_Silent_p.A802A|MYH11_ENST00000576790.1_Silent_p.A795A NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 795 IQ. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CACGACACATCGCCTGGAAGG 0.512000 T CBFB AML 28 62 0 0 0.00058488 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869685 50869685 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:50869685C>T ENST00000359139.3 + 11 1603 c.1209C>T c.(1207-1209)gcC>gcT p.A403A PPP6R2_ENST00000216061.5_Silent_p.A403A|PPP6R2_ENST00000395741.3_Silent_p.A404A|PPP6R2_ENST00000395744.3_Silent_p.A403A 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 2 403 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 CCCACGCTGCCCGTGAGGAGA 0.577000 39 64 0 0 0.00195071 0 0 KLHL1 57626 broad.mit.edu 37 13 70293634 70293634 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:70293634T>C ENST00000377844.4 - 9 2641 c.1882A>G c.(1882-1884)Aac>Gac p.N628D KLHL1_ENST00000545028.1_Missense_Mutation_p.N435D NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 628 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GCACACATGTTCCACTTATTT 0.428000 23 49 0 0 0.00278032 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601606 58601606 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58601606G>A ENST00000240727.6 - 2 428 c.29C>T c.(28-30)tCc>tTc p.S10F ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S10F|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S66F NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 10 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCTCCTGGGGGAGGCAAACGC 0.622000 21 37 0 0 0.00278032 0 0 EPB41L2 2037 broad.mit.edu 37 6 131191166 131191166 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:131191166G>A ENST00000337057.3 - 15 2325 c.2144C>T c.(2143-2145)tCa>tTa p.S715L EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S715L|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S645L|EPB41L2_ENST00000524581.1_Missense_Mutation_p.S93L NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 715 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ACTCCCAGGTGATATCTCTTT 0.488000 6 26 0 0 0.00116845 0 0 FRMPD2 143162 broad.mit.edu 37 10 49392706 49392706 + Silent SNP C C T rs115484322 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:49392706C>T ENST00000374201.3 - 20 2789 c.2487G>A c.(2485-2487)ctG>ctA p.L829L FRMPD2_ENST00000407470.4_Silent_p.L797L|FRMPD2_ENST00000305531.3_Silent_p.L804L NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 829 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TGATGTGATTCAGGGCTAGTA 0.358000 14 16 0 0 0.000308642 0 0 ART3 419 broad.mit.edu 37 4 77003064 77003064 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:77003064C>T ENST00000355810.4 + 3 276 c.157C>T c.(157-159)Ccc>Tcc p.P53S ART3_ENST00000349321.3_Missense_Mutation_p.P53S|ART3_ENST00000341029.5_Missense_Mutation_p.P53S|ART3_ENST00000513494.1_3'UTR NM_001130016.2 NP_001123488.1 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 53 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TAAATACGTTCCCCAACTGCT 0.413000 37 73 0 0 0.000814825 0 0 FAT3 120114 broad.mit.edu 37 11 92534702 92534702 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:92534702G>A ENST00000298047.6 + 9 8540 c.8523G>A c.(8521-8523)atG>atA p.M2841I FAT3_ENST00000409404.2_Missense_Mutation_p.M2841I|FAT3_ENST00000525166.1_Missense_Mutation_p.M2691I Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2841 Cadherin 26. 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) CTATTGATATGGACTGGGGAG 0.468000 TCGA Ovarian(4;0.039) 106 112 0 0 0.000781405 0 0 NOS1 4842 broad.mit.edu 37 12 117691472 117691472 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117691472A>T ENST00000317775.6 - 17 3304 c.2619T>A c.(2617-2619)ttT>ttA p.F873L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.F907L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 873 Flavodoxin-like. 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) CAGCACTCTCAAAGTTGTCTC 0.552000 26 73 0 0 0.00127121 0 0 SCN2A 6326 broad.mit.edu 37 2 166188051 166188051 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:166188051C>T ENST00000375437.2 + 14 2651 c.2361C>T c.(2359-2361)ttC>ttT p.F787F SCN2A_ENST00000375427.2_Silent_p.F787F|SCN2A_ENST00000357398.3_Silent_p.F787F|SCN2A_ENST00000283256.6_Silent_p.F787F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 787 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) CGGAGCAGTTCAGCAGTGTAC 0.428000 16 30 0 0 0.000566183 0 0 ANK3 288 broad.mit.edu 37 10 61898789 61898789 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:61898789C>T ENST00000280772.1 - 24 2862 c.2671G>A c.(2671-2673)Gaa>Aaa p.E891K ANK3_ENST00000373827.2_Missense_Mutation_p.E885K|ANK3_ENST00000355288.2_Missense_Mutation_p.E25K|ANK3_ENST00000503366.1_Missense_Mutation_p.E892K|ANK3_ENST00000460468.1_Missense_Mutation_p.E55K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 891 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 TCACCCAATTCCTTAAGGTCC 0.483000 22 31 0 0 0.00188189 0 0 MIR526A2 574486 broad.mit.edu 37 19 54230225 54230225 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:54230225C>T ENST00000390198.1 + 0 50 NR_030208.1 GAACATGCATCCTTTCAGAGG 0.418000 24 69 0 0 0.00278032 0 0 MUC16 94025 broad.mit.edu 37 19 8999533 8999533 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8999533C>T ENST00000397910.4 - 56 40845 c.40642G>A c.(40642-40644)Gat>Aat p.D13548N MUC16_ENST00000380951.5_Missense_Mutation_p.D189N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13550 SEA 10. 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 CAGATGGCATCCACTTTGGTG 0.582000 12 34 0 0 0.00136819 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069714 114069714 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:114069714G>A ENST00000462705.1 - 11 1813 c.992C>T c.(991-993)gCt>gTt p.A331V ZBTB20_ENST00000481632.1_Missense_Mutation_p.A331V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A331V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A404V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A331V|ZBTB20_ENST00000471418.1_Missense_Mutation_p.A331V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A331V NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGTGGGTTCAGCCTGGCTGTC 0.632000 17 34 0 0 0.00121646 0 0 ABL2 27 broad.mit.edu 37 1 179084119 179084119 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179084119T>C ENST00000502732.1 - 9 1658 c.1455A>G c.(1453-1455)ccA>ccG p.P485P ABL2_ENST00000408940.3_Silent_p.P449P|ABL2_ENST00000344730.3_Silent_p.P470P|ABL2_ENST00000392043.3_Silent_p.P464P|ABL2_ENST00000504405.1_Silent_p.P449P|ABL2_ENST00000367623.4_Silent_p.P464P|ABL2_ENST00000511413.1_Silent_p.P485P|ABL2_ENST00000512653.1_Silent_p.P470P|ABL2_ENST00000507173.1_Silent_p.P464P NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 485 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TACCTGGATATGGTGACATTC 0.393000 T ETV6 AML 29 83 0 0 0.00128727 0 0 OR9A2 135924 broad.mit.edu 37 7 142723739 142723739 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142723739G>A ENST00000350513.2 - 1 543 c.481C>T c.(481-483)Cag>Tag p.Q161* NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AAGGTAAACTGAAATGTGGCA 0.403000 24 48 0 0 0.00229938 0 0 SEMA3F 6405 broad.mit.edu 37 3 50214261 50214261 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:50214261G>A ENST00000002829.3 + 7 1094 c.610G>A c.(610-612)Gat>Aat p.D204N SEMA3F_ENST00000413852.1_Missense_Mutation_p.D105N|SEMA3F_ENST00000434342.1_Missense_Mutation_p.D173N NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 204 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) GTGTCCGTACGATCCCAAGCT 0.607000 34 36 0 0 0.00128727 0 0 KRT27 342574 broad.mit.edu 37 17 38936698 38936698 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:38936698C>T ENST00000301656.3 - 3 578 c.538G>A c.(538-540)Gag>Aag p.E180K NM_181537.3 NP_853515.2 Q7Z3Y8 K1C27_HUMAN keratin 27 180 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1) 21 Breast(137;0.000812) AGCGCTAGCTCGTTTTCAAAC 0.453000 17 19 0 0 0.00229938 0 0 TSPAN9 10867 broad.mit.edu 37 12 3387672 3387672 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:3387672C>T ENST00000011898.5 + 4 310 c.149C>T c.(148-150)tCg>tTg p.S50L TSPAN9_ENST00000537971.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000407263.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000492305.1_3'UTR NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 50 integral to plasma membrane|membrane fraction endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) AGCTTCCCTTCGTTGTCTGCA 0.592000 23 50 0 0 0.00229938 0 0 SLX4 84464 broad.mit.edu 37 16 3633257 3633257 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:3633257G>A ENST00000294008.3 - 14 5634 c.4994C>T c.(4993-4995)cCc>cTc p.P1665L RP11-461A8.1_ENST00000573982.1_lincRNA NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1665 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TTGATGTCGGGGGCCCTTGGT 0.622000 Direct reversal of damage 11 43 0 0 0.000673444 0 0 ZNF229 7772 broad.mit.edu 37 19 44934018 44934018 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44934018C>T ENST00000291187.4 - 6 1242 c.920G>A c.(919-921)aGa>aAa p.R307K ZNF229_ENST00000588931.1_Missense_Mutation_p.R313K|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TGTGGGAACTCTTTGATGTCT 0.507000 5 21 0 0 0.00198382 0 0 RUFY3 22902 broad.mit.edu 37 4 71648890 71648890 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71648890C>T ENST00000226328.4 + 9 1540 c.977C>T c.(976-978)tCc>tTc p.S326F RUFY3_ENST00000417478.2_Missense_Mutation_p.S386F|RUFY3_ENST00000502653.1_Missense_Mutation_p.S273F|RUFY3_ENST00000536664.1_Missense_Mutation_p.S310F|RUFY3_ENST00000381006.3_Missense_Mutation_p.S326F NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 326 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) ATACTGGAATCCAATCGGAAG 0.353000 12 20 0 0 0.00244969 0 0 LCN9 392399 broad.mit.edu 37 9 138556091 138556091 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:138556091C>T ENST00000277526.3 + 2 180 c.180C>T c.(178-180)gtC>gtT p.V60V LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 60 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) GGGTCTTCGTCCGGAATATTG 0.468000 29 95 0 0 0.0024448 0 0 USP43 124739 broad.mit.edu 37 17 9632076 9632076 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:9632076C>T ENST00000570827.2 + 15 3282 c.2208C>T c.(2206-2208)atC>atT p.I736I USP43_ENST00000285199.6_Silent_p.I1047I|USP43_ENST00000570475.1_Silent_p.I1042I Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 1047 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 CCCTCAGGATCCCAGAGGGCC 0.706000 9 2 0 0 0.000274275 0 0 SSPO 23145 broad.mit.edu 37 7 149500813 149500813 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:149500813G>A ENST00000378016.2 + 0 8131 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) CCAACCAGGGGGCTGCCCCCT 0.692000 6 10 0 0 0.00116845 0 0 NRG1 3084 broad.mit.edu 37 8 32621314 32621314 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:32621314C>T ENST00000338921.4 + 13 1858 c.1341C>T c.(1339-1341)ttC>ttT p.F447F NRG1_ENST00000287840.5_Silent_p.F439F|NRG1_ENST00000287845.5_Silent_p.F410F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.F444F|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Silent_p.F436F|NRG1_ENST00000405005.2_Silent_p.F439F|NRG1_ENST00000539990.1_Silent_p.F282F|NRG1_ENST00000519301.1_Silent_p.F389F Q02297 NRG1_HUMAN neuregulin 1 439 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CTGTAGATTTCCACACGCCAA 0.557000 25 68 0 0 0.00178596 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2019079 2019079 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:2019079G>A ENST00000382722.5 - 4 841 c.479C>T c.(478-480)tCc>tTc p.S160F CACNA2D4_ENST00000585732.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.S96F|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.S160F|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.S96F NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 160 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) CACCACCAGGGATTCATTGAA 0.602000 4 15 0 0 0.00116845 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128507 55128507 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:55128507G>A ENST00000370862.3 + 4 985 c.649G>A c.(649-651)Gaa>Aaa p.E217K NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 217 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATCCTAGGTGAAATTTATCC 0.358000 7 19 0 0 0.000274275 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678463 48678463 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48678463G>A ENST00000352832.5 + 18 4146 c.3774G>A c.(3772-3774)gtG>gtA p.V1258V CACNA1G_ENST00000359106.5_Silent_p.V1281V|CACNA1G_ENST00000513689.2_Silent_p.V1281V|CACNA1G_ENST00000514717.1_Silent_p.V1258V|CACNA1G_ENST00000416767.4_Silent_p.V1281V|CACNA1G_ENST00000513964.1_Silent_p.V1281V|CACNA1G_ENST00000515411.1_Silent_p.V1281V|CACNA1G_ENST00000512389.1_Silent_p.V1281V|CACNA1G_ENST00000505165.1_Silent_p.V1281V|CACNA1G_ENST00000514079.1_Silent_p.V1281V|CACNA1G_ENST00000514181.1_Silent_p.V1281V|CACNA1G_ENST00000442258.2_Silent_p.V1258V|CACNA1G_ENST00000503485.1_Silent_p.V1281V|CACNA1G_ENST00000358244.5_Silent_p.V1258V|CACNA1G_ENST00000354983.4_Silent_p.V1258V|CACNA1G_ENST00000510115.1_Silent_p.V1258V|CACNA1G_ENST00000515765.1_Silent_p.V1281V|CACNA1G_ENST00000360761.4_Silent_p.V1258V|CACNA1G_ENST00000507896.1_Silent_p.V1281V|CACNA1G_ENST00000507609.1_Silent_p.V1281V|CACNA1G_ENST00000507336.1_Silent_p.V1281V|CACNA1G_ENST00000507510.2_Silent_p.V1281V|CACNA1G_ENST00000510366.1_Silent_p.V1281V|CACNA1G_ENST00000429973.2_Silent_p.V1281V|CACNA1G_ENST00000502264.1_Silent_p.V1258V|CACNA1G_ENST00000515165.1_Silent_p.V1281V 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 1281 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) TCGACCACGTGGTCCTTGTCA 0.612000 20 94 0 0 0.00047179 0 0 ZNF189 7743 broad.mit.edu 37 9 104170392 104170392 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104170392C>T ENST00000374861.3 + 3 584 c.300C>T c.(298-300)ttC>ttT p.F100F ZNF189_ENST00000259395.4_Silent_p.F72F|ZNF189_ENST00000339664.2_Silent_p.F114F NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 114 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F114L(1) 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) GAGGGATCTTCCTATGGGAAA 0.378000 23 22 0 0 0.00229938 0 0 AARS2 57505 broad.mit.edu 37 6 44275008 44275008 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:44275008A>T ENST00000244571.4 - 6 1020 c.1018T>A c.(1018-1020)Ttc>Atc p.F340I TMEM151B_ENST00000438774.2_3'UTR NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 340 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ATCCCAGGGAAGATGCCATCA 0.642000 8 17 0 0 0.000442599 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156716575 156716575 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:156716575C>A ENST00000264424.8 + 7 891 c.809C>A c.(808-810)tCt>tAt p.S270Y GUCY1B3_ENST00000502959.1_Missense_Mutation_p.S292Y|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.S202Y|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.S202Y|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.S270Y|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.S202Y|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.S250Y NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 270 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GGGATCCTTTCTCACATCAAT 0.378000 33 53 9.65963e-10 3.76457e-09 0.00058488 1 0 MUC16 94025 broad.mit.edu 37 19 9068032 9068032 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9068032C>T ENST00000397910.4 - 3 19617 c.19414G>A c.(19414-19416)Ggg>Agg p.G6472R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6474 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 GAGTGGGTCCCTGCCTGTGAG 0.488000 38 82 0 0 0.00195071 0 0 DIAPH1 1729 broad.mit.edu 37 5 140961908 140961908 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140961908G>A ENST00000253811.6 - 7 795 c.655C>T c.(655-657)Cgc>Tgc p.R219C DIAPH1_ENST00000520569.1_Missense_Mutation_p.R165C|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R210C|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R210C|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R210C|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R219C|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R219C|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R210C O60610 DIAP1_HUMAN diaphanous-related formin 1 219 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAGCAGCGAATGATCTCA 0.408000 19 37 0 0 0.00229938 0 0 PLA2G6 8398 broad.mit.edu 37 22 38565319 38565319 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38565319G>A ENST00000332509.3 - 2 298 c.115C>T c.(115-117)Cgg>Tgg p.R39W PLA2G6_ENST00000335539.3_Missense_Mutation_p.R39W|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R39W NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 39 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) CCTTCCTCCCGAACTCGGTCA 0.587000 9 21 0 0 0.000274275 0 0 RHBDL1 9028 broad.mit.edu 37 16 726698 726698 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:726698C>T ENST00000219551.2 + 2 450 c.423C>T c.(421-423)ttC>ttT p.F141F RHBDL1_ENST00000352681.3_Silent_p.F76F O75783 RHBL1_HUMAN rhomboid, veinlet-like 1 (Drosophila) 141 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|lung(4)|urinary_tract(3) 9 Hepatocellular(780;0.0218) CCAGCAGTTTCAAGCGGGCCA 0.667000 10 32 0 0 0.000673444 0 0 SACS 26278 broad.mit.edu 37 13 23908108 23908108 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:23908108G>A ENST00000382298.3 - 10 10495 c.9907C>T c.(9907-9909)Cct>Tct p.P3303S SACS_ENST00000402364.1_Missense_Mutation_p.P2553S|SACS_ENST00000382292.3_Missense_Mutation_p.P3303S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3303 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGGCTGAGAGGAAGCAGAACA 0.418000 18 43 0 0 0.000958276 0 0 KANK4 163782 broad.mit.edu 37 1 62733995 62733995 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:62733995C>T ENST00000371153.4 - 5 2573 c.2195G>A c.(2194-2196)gGg>gAg p.G732E KANK4_ENST00000354381.3_Missense_Mutation_p.G104E|KANK4_ENST00000371150.1_Missense_Mutation_p.G88E NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 732 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 TTCCCCAGGCCCACTTTCCTG 0.577000 13 36 0 0 0.00244969 0 0 MUC15 143662 broad.mit.edu 37 11 26586820 26586820 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:26586820C>T ENST00000436318.2 - 2 800 c.667G>A c.(667-669)Gat>Aat p.D223N MUC15_ENST00000529533.1_Missense_Mutation_p.D223N|MUC15_ENST00000455601.2_Missense_Mutation_p.D196N|MUC15_ENST00000527569.1_Missense_Mutation_p.D223N|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.D223N|ANO3_ENST00000537978.1_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 196 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GTGAAGCTATCACTGTTTGTG 0.408000 30 51 0 0 0.001512 0 0 MYL2 4633 broad.mit.edu 37 12 111348965 111348965 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:111348965G>A ENST00000228841.8 - 7 464 c.417C>T c.(415-417)ttC>ttT p.F139F MYL2_ENST00000548438.1_Silent_p.F125F NM_000432.3 NP_000423.2 P10916 MLRV_HUMAN myosin, light chain 2, regulatory, cardiac, slow 139 EF-hand 3. cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis cytosol|myosin complex|sarcomere actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 12 GGAAGGCGGCGAACATCTGGT 0.617000 30 82 0 0 0.00111076 0 0 TRRAP 8295 broad.mit.edu 37 7 98575844 98575844 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:98575844C>T ENST00000359863.4 + 56 8584 c.8375C>T c.(8374-8376)tCc>tTc p.S2792F TRRAP_ENST00000355540.3_Missense_Mutation_p.S2774F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S2774F NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2792 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCACAAGAATCCTATGAAAAG 0.338000 39 87 0 0 0.00195071 0 0 TUBB1 81027 broad.mit.edu 37 20 57599799 57599799 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:57599799G>A ENST00000217133.1 + 4 1586 c.1317G>A c.(1315-1317)acG>acA p.T439T NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 439 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) AAGAGGTCACGGAGGAGGCAG 0.443000 29 19 0 0 0.00127121 0 0 IVL 3713 broad.mit.edu 37 1 152882604 152882604 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152882604G>A ENST00000368764.3 + 2 395 c.331G>A c.(331-333)Gag>Aag p.E111K IVL_ENST00000392667.2_5'UTR P07476 INVO_HUMAN involucrin 111 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCTTAAGCAGGAGAAAACACA 0.488000 11 42 0 0 0.00136819 0 0 CCDC129 223075 broad.mit.edu 37 7 31691654 31691654 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:31691654G>A ENST00000319386.3 + 13 3362 c.2369G>A c.(2368-2370)gGg>gAg p.G790E CCDC129_ENST00000407970.3_Missense_Mutation_p.G938E|CCDC129_ENST00000409210.1_Missense_Mutation_p.G846E|CCDC129_ENST00000451887.2_Missense_Mutation_p.G964E Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 938 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ATCAGAGAAGGGATTTTACTG 0.493000 5 7 0 0 0.000602214 0 0 IL20RA 53832 broad.mit.edu 37 6 137330539 137330539 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:137330539G>A ENST00000367748.1 - 3 747 c.161C>T c.(160-162)cCa>cTa p.P54L IL20RA_ENST00000316649.5_Missense_Mutation_p.P165L|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.P165L|IL20RA_ENST00000541547.1_Missense_Mutation_p.P116L Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 165 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) AAGGTCTTCTGGATTTCTCTT 0.438000 36 60 0 0 0.000953801 0 0 PLAA 9373 broad.mit.edu 37 9 26913921 26913921 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:26913921G>A ENST00000397292.3 - 11 1928 c.1511C>T c.(1510-1512)tCt>tTt p.S504F PLAA_ENST00000520884.1_Missense_Mutation_p.S504F NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 504 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) CATACTTGCAGAACCTGGTAC 0.348000 18 30 0 0 0.00278032 0 0 POLE 5426 broad.mit.edu 37 12 133236048 133236048 + Missense_Mutation SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:133236048G>C ENST00000320574.5 - 26 3151 c.3108C>G c.(3106-3108)aaC>aaG p.N1036K POLE_ENST00000535270.1_Missense_Mutation_p.N1009K NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1036 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) ACATGGAACGGTTCTCAGAGA 0.527000 DNA polymerases (catalytic subunits) 11 40 0 0 0.00136819 0 0 NDRG3 57446 broad.mit.edu 37 20 35312868 35312868 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:35312868G>A ENST00000373803.2 - 6 387 c.331C>T c.(331-333)Ccc>Tcc p.P111S NDRG3_ENST00000540765.1_Missense_Mutation_p.P7S|NDRG3_ENST00000373773.3_Missense_Mutation_p.P16S|NDRG3_ENST00000359675.2_Missense_Mutation_p.P99S|NDRG3_ENST00000349004.1_Missense_Mutation_p.P111S Q9UGV2 NDRG3_HUMAN NDRG family member 3 111 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) TCCATTGTGGGGTACTGATAC 0.433000 23 36 0 0 0.000720815 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559961 44559961 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:44559961G>A ENST00000332567.4 - 1 2027 c.1675C>T c.(1675-1677)Ctg>Ttg p.L559L KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 559 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CACCCTTCCAGAACAGGTTCA 0.557000 20 21 0 0 0.00121646 0 0 GABRA3 2556 broad.mit.edu 37 X 151532989 151532989 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:151532989G>A ENST00000370314.4 - 2 292 c.54C>T c.(52-54)ttC>ttT p.F18F GABRA3_ENST00000370311.1_Silent_p.F18F|GABRA3_ENST00000535043.1_Silent_p.F18F NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 18 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) TATTAATCAGGAAAAGAATCC 0.453000 40 26 0 0 0.00148497 0 0 SERPINA5 5104 broad.mit.edu 37 14 95054319 95054319 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:95054319G>A ENST00000329597.7 + 3 829 c.e3+1 SERPINA5_ENST00000554276.1_Splice_Site|SERPINA5_ENST00000554866.1_Splice_Site|SERPINA5_ENST00000553780.1_Splice_Site NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TTCTTTAAAGGTAAGGCCCTT 0.438000 50 46 0 0 0.000781405 0 0 OR13C2 392376 broad.mit.edu 37 9 107367329 107367329 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107367329C>T ENST00000542196.1 - 1 622 c.580G>A c.(580-582)Gac>Aac p.D194N NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AACTCATTGTCTGAGATGTCA 0.388000 29 121 0 0 0.000692331 0 0 ANKRD42 338699 broad.mit.edu 37 11 82936039 82936039 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:82936039C>T ENST00000260047.6 + 6 1521 c.726C>T c.(724-726)aaC>aaT p.N242N ANKRD42_ENST00000393392.2_Silent_p.N215N|ANKRD42_ENST00000533342.1_Silent_p.N243N|ANKRD42_ENST00000531895.1_Silent_p.N243N Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 215 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCAAGCAGAACATTTTACAGT 0.378000 15 28 0 0 0.00074312 0 0 KRT77 374454 broad.mit.edu 37 12 53096888 53096888 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53096888C>T ENST00000341809.3 - 1 359 c.331G>A c.(331-333)Ggt>Agt p.G111S KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 111 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCCCCAAAACCACCTCCTCCA 0.592000 13 30 0 0 0.00136819 0 0 TLR4 7099 broad.mit.edu 37 9 120470924 120470924 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:120470924G>A ENST00000355622.6 + 2 278 c.177G>A c.(175-177)ctG>ctA p.L59L TLR4_ENST00000394487.4_Silent_p.L19L|TLR4_ENST00000472304.1_Intron NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 59 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 CCAAGAACCTGGACCTGAGCT 0.433000 99 88 0 0 0.000781405 0 0 IMPG2 50939 broad.mit.edu 37 3 100992530 100992530 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:100992530C>T ENST00000193391.7 - 7 910 c.723G>A c.(721-723)caG>caA p.Q241Q NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 241 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 ATTCTGCAATCTGTTCACCTG 0.383000 20 26 0 0 0.00121646 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712271 140712271 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140712271G>A ENST00000517417.1 + 1 2020 c.2020G>A c.(2020-2022)Gac>Aac p.D674N PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D674N NM_018912.2 NP_061735.1 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) CATCCTGGCCGACCTGGGCAG 0.692000 31 62 0 0 0.00178596 0 0 OTUD7A 161725 broad.mit.edu 37 15 31795993 31795993 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:31795993C>T ENST00000382902.1 - 7 1014 c.922G>A c.(922-924)Gag>Aag p.E308K OTUD7A_ENST00000307050.4_Missense_Mutation_p.E301K Q8TE49 OTU7A_HUMAN OTU domain containing 7A 301 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding p.E301K(1) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TCCAGGCTCTCGTACACGGGG 0.493000 28 14 0 0 0.00106085 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997273 146997273 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:146997273C>T ENST00000361727.3 + 9 1905 c.1389C>T c.(1387-1389)ttC>ttT p.F463F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 463 Laminin G-like 2. 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) AGGTTCGCTTCCTAGCCAAGG 0.408000 HNSCC(39;0.1) 27 48 0 0 0.00178596 0 0 LPPR1 54886 broad.mit.edu 37 9 104048497 104048497 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104048497C>T ENST00000374874.3 + 4 803 c.364C>T c.(364-366)Cga>Tga p.R122* LPPR1_ENST00000395056.2_Nonsense_Mutation_p.R122* NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 122 integral to membrane catalytic activity p.R122*(1) CCCCTTACTTCGAAGGATCAT 0.368000 14 59 0 0 0.00244969 0 0 TTC16 158248 broad.mit.edu 37 9 130482669 130482669 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130482669C>T ENST00000373289.3 + 6 732 c.652C>T c.(652-654)Cag>Tag p.Q218* PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Nonsense_Mutation_p.Q42* NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 218 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CAACTTTCTCCAGAAGGTACA 0.612000 44 44 0 0 0.000781405 0 0 TRIM15 89870 broad.mit.edu 37 6 30134956 30134956 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30134956C>T ENST00000376694.4 + 2 854 c.385C>T c.(385-387)Cgt>Tgt p.R129C TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 129 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 CCCACAGGATCGTCTCAGGAG 0.468000 29 81 0 0 0.00058488 0 0 MROH2B 133558 broad.mit.edu 37 5 41004875 41004875 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41004875C>T ENST00000399564.4 - 36 4462 c.e36+1 MROH2B_ENST00000506092.2_Splice_Site NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACGCCTTTTACCTTGTGAGGA 0.458000 23 49 0 0 0.000720815 0 0 SORL1 6653 broad.mit.edu 37 11 121492969 121492969 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:121492969G>A ENST00000260197.7 + 45 6292 c.6163G>A c.(6163-6165)Gaa>Aaa p.E2055K SORL1_ENST00000527934.1_Missense_Mutation_p.E670K|SORL1_ENST00000534286.1_Missense_Mutation_p.E965K|SORL1_ENST00000532694.1_Missense_Mutation_p.E901K|SORL1_ENST00000525532.1_Missense_Mutation_p.E999K NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2055 Fibronectin type-III 6. 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) GCATTTTAATGAAAGCAGGGT 0.363000 16 21 0 0 0.000422831 0 0 BAI3 577 broad.mit.edu 37 6 69944939 69944939 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:69944939G>A ENST00000370598.1 + 19 3444 c.2623G>A c.(2623-2625)Ggc>Agc p.G875S BAI3_ENST00000238918.8_Missense_Mutation_p.G81S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 875 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) GGAATCCTCTGGCACACCTTC 0.358000 56 103 0 0 0.000781405 0 0 TARS2 80222 broad.mit.edu 37 1 150471694 150471694 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:150471694C>T ENST00000369064.3 + 13 1576 c.1542C>T c.(1540-1542)gtC>gtT p.V514V TARS2_ENST00000369054.2_Silent_p.V384V|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Silent_p.V432V NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 514 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CTTCAAAGGTCCTTAAACAGG 0.483000 66 133 0 0 0.000781405 0 0 BCL9 607 broad.mit.edu 37 1 147094133 147094133 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:147094133C>T ENST00000234739.3 + 9 3704 c.2964C>T c.(2962-2964)ccC>ccT p.P988P NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 988 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GAAGTCTTCCCTCTAGTACAC 0.498000 T """IGH@, IGL@""" B-ALL 57 112 0 0 0.000781405 0 0 DSP 1832 broad.mit.edu 37 6 7583417 7583417 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7583417G>T ENST00000379802.3 + 24 6263 c.5922G>T c.(5920-5922)aaG>aaT p.K1974N DSP_ENST00000418664.2_Missense_Mutation_p.K1375N NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1974 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) TGAGGAAGAAGGTGACAGCAA 0.498000 18 53 6.33239e-15 2.47402e-14 0.00152264 1 0 ADAM23 8745 broad.mit.edu 37 2 207414845 207414845 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:207414845G>A ENST00000264377.3 + 9 1222 c.894G>A c.(892-894)atG>atA p.M298I ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 298 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTGAAGAAATGAAATATTTGG 0.303000 16 43 0 0 0.000958276 0 0 PRSS50 29122 broad.mit.edu 37 3 46753940 46753940 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:46753940C>T ENST00000460241.1 - 11 2624 c.954G>A c.(952-954)atG>atA p.M318I PRSS50_ENST00000315170.7_Missense_Mutation_p.M318I Q9UI38 TSP50_HUMAN protease, serine, 50 318 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 ACGTGCCCTCCATGGAGCAGA 0.627000 14 5 0 0 0.000422831 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506675 37506675 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37506675G>A ENST00000374660.1 + 39 3424 c.3325G>A c.(3325-3327)Gaa>Aaa p.E1109K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E990K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E990K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1100 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TATATTAAATGAAAAAATTAG 0.308000 27 63 0 0 0.00209593 0 0 ALOX12B 242 broad.mit.edu 37 17 7979644 7979644 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:7979644C>T ENST00000319144.4 - 11 1641 c.1381G>A c.(1381-1383)Gaa>Aaa p.E461K ALOX12B_ENST00000577351.1_5'UTR NM_001139.2 NP_001130.1 O75342 LX12B_HUMAN arachidonate 12-lipoxygenase, 12R type 461 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 GCAAAGCCTTCCACGCCCAGG 0.617000 Multiple Myeloma(8;0.094) 4 3 0 0 0.00024832 0 0 C12orf40 283461 broad.mit.edu 37 12 40085867 40085867 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:40085867G>A ENST00000324616.5 + 11 1518 c.1364G>A c.(1363-1365)gGa>gAa p.G455E C12orf40_ENST00000405531.3_Missense_Mutation_p.G455E NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 455 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 ATGGAAGAAGGAGGAATATAT 0.254000 13 23 0 0 0.000566183 0 0 PLCXD2 257068 broad.mit.edu 37 3 111426916 111426916 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111426916C>T ENST00000393934.3 + 2 877 c.307C>T c.(307-309)Cga>Tga p.R103* PLCXD2_ENST00000477665.1_Nonsense_Mutation_p.R103* NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 103 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 CCTGACATTTCGAGAACAGCT 0.522000 20 54 0 0 0.00152264 0 0 NAB1 4664 broad.mit.edu 37 2 191550256 191550256 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:191550256T>C ENST00000337386.5 + 8 1611 c.1150T>C c.(1150-1152)Tat>Cat p.Y384H NAB1_ENST00000357215.5_Missense_Mutation_p.Y355H|NAB1_ENST00000409581.1_Missense_Mutation_p.Y384H|NAB1_ENST00000545490.1_Missense_Mutation_p.Y124H|AC006460.2_ENST00000411949.1_RNA|AC006460.2_ENST00000428032.1_RNA|NAB1_ENST00000409641.1_Missense_Mutation_p.Y383H|AC006460.2_ENST00000421437.1_RNA NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 384 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CCAAGCTGGCTATGAGAGACT 0.468000 12 17 0 0 0.000422831 0 0 EXD1 161829 broad.mit.edu 37 15 41476750 41476750 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:41476750C>T ENST00000314992.5 - 10 1114 c.924G>A c.(922-924)aaG>aaA p.K308K EXD1_ENST00000458580.2_Silent_p.K366K NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 308 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TCTGGAAGTCCTTGAGTTGAA 0.428000 30 18 0 0 0.00209593 0 0 CYP2S1 29785 broad.mit.edu 37 19 41704646 41704646 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:41704646C>T ENST00000310054.4 + 5 903 c.687C>T c.(685-687)ccC>ccT p.P229P CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 229 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 TCCTGCGGCCCCTGCCAGGCC 0.617000 26 71 0 0 0.001512 0 0 OR51A7 119687 broad.mit.edu 37 11 4929511 4929511 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4929511G>A ENST00000359350.4 + 1 912 c.912G>A c.(910-912)ggG>ggA p.G304G MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGATCTTGGGGAAGTTGCTTA 0.393000 15 41 0 0 0.000308642 0 0 PURG 29942 broad.mit.edu 37 8 30889392 30889392 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:30889392G>A ENST00000475541.1 - 1 1839 c.907C>T c.(907-909)Cca>Tca p.P303S PURG_ENST00000339382.2_Intron NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 303 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GCTTTGAATGGAACAGTAATA 0.378000 10 16 0 0 0.000442599 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996286 140996286 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:140996286G>A ENST00000285879.4 + 4 3382 c.3096G>A c.(3094-3096)agG>agA p.R1032R MAGEC1_ENST00000406005.2_Silent_p.R99R NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1032 MAGE. 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) GTGCTGGGAGGGAGCACTTTG 0.532000 HNSCC(15;0.026) 36 8 0 0 0.00128727 0 0 ADAM2 2515 broad.mit.edu 37 8 39646227 39646227 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:39646227G>A ENST00000265708.4 - 8 706 c.603C>T c.(601-603)gtC>gtT p.V201V ADAM2_ENST00000347580.4_Silent_p.V182V|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.V201V NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 201 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.V201V(2) 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) CTTTTTGAGCGACAACAGTTG 0.289000 9 35 0 0 0.000673444 0 0 RAI1 10743 broad.mit.edu 37 17 17701563 17701563 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:17701563C>T ENST00000353383.1 + 3 5770 c.5301C>T c.(5299-5301)ggC>ggT p.G1767G RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1767 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CCAAGCAGGGCCCACTGCGCA 0.706000 5 0 0 0 0.00198382 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091063 11091063 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11091063G>A ENST00000537503.1 - 1 799 c.744C>T c.(742-744)ttC>ttT p.F248F PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_5'UTR NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 248 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 AAACTGATATGAAAAAAGACA 0.418000 30 55 0 0 0.00209593 0 0 NLRP5 126206 broad.mit.edu 37 19 56539225 56539225 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56539225G>A ENST00000390649.3 + 7 1626 c.1626G>A c.(1624-1626)agG>agA p.R542R NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 542 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) TGTGGAATAGGAAGTCAGTGT 0.562000 6 18 0 0 0.00116845 0 0 NPY1R 4886 broad.mit.edu 37 4 164247476 164247476 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:164247476G>A ENST00000296533.2 - 2 762 c.231C>T c.(229-231)atC>atT p.I77I NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 77 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) TCACAATCAGGATGTTGGTAA 0.428000 10 41 0 0 0.000442599 0 0 PTPRB 5787 broad.mit.edu 37 12 70953309 70953309 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70953309C>T ENST00000334414.6 - 18 4572 c.4528G>A c.(4528-4530)Gac>Aac p.D1510N PTPRB_ENST00000451516.2_Missense_Mutation_p.D1202N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1509N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1202N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1292N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1422N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1202N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1292 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCTCAAAGTCGTTGTAGTCT 0.498000 44 85 0 0 0.000781405 0 0 SCN4A 6329 broad.mit.edu 37 17 62019223 62019223 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:62019223G>A ENST00000578147.1 - 24 4495 c.4419C>T c.(4417-4419)ttC>ttT p.F1473F SCN4A_ENST00000435607.1_Silent_p.F1473F P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1473 F -> S (in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.F1473F(1) 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) TCATGAGGGCGAACAGCAGCG 0.612000 27 28 0 0 0.00127121 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610323 47610323 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:47610323C>T ENST00000371891.3 + 8 1030 c.999C>T c.(997-999)atC>atT p.I333I CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.I333I|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 333 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTCCTGGATCCTCTATGCTC 0.592000 6 69 0 0 0.000422831 0 0 HEATR1 55127 broad.mit.edu 37 1 236736086 236736086 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:236736086G>A ENST00000366582.3 - 25 3616 c.3502C>T c.(3502-3504)Cca>Tca p.P1168S HEATR1_ENST00000366581.2_Missense_Mutation_p.P1087S NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1168 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCTTTATCTGGTGGCTCCAGT 0.393000 100 211 0 0 0.000781405 0 0 RBM46 166863 broad.mit.edu 37 4 155718033 155718033 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:155718033G>A ENST00000510397.1 + 2 308 c.129G>A c.(127-129)agG>agA p.R43R RBM46_ENST00000514866.1_Silent_p.R43R|RBM46_ENST00000281722.3_Silent_p.R43R NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 43 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) ATGGACAAAGGAAATTTGGCG 0.383000 22 49 0 0 0.000720815 0 0 PTPRB 5787 broad.mit.edu 37 12 70946612 70946612 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70946612C>T ENST00000334414.6 - 21 5376 c.5332G>A c.(5332-5334)Gat>Aat p.D1778N PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1560 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAGTGGGATCGCATTTTCCA 0.423000 14 36 0 0 0.00185496 0 0 OR11L1 391189 broad.mit.edu 37 1 248004784 248004784 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248004784C>T ENST00000355784.2 - 1 470 c.415G>A c.(415-417)Ggg>Agg p.G139R NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 139 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) GCACAGAGCCCACGATGCATG 0.597000 10 33 0 0 0.000673444 0 0 TRERF1 55809 broad.mit.edu 37 6 42227184 42227184 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:42227184G>A ENST00000541110.1 - 9 2790 c.2222C>T c.(2221-2223)tCg>tTg p.S741L TRERF1_ENST00000372922.4_Missense_Mutation_p.S721L|TRERF1_ENST00000372917.4_Missense_Mutation_p.S638L|TRERF1_ENST00000340840.2_Missense_Mutation_p.S638L|TRERF1_ENST00000354325.2_Missense_Mutation_p.S638L Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 721 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAAGAGCCCCGAGCCCTGGCG 0.731000 5 12 0 0 0.000602214 0 0 SLC10A6 345274 broad.mit.edu 37 4 87744979 87744979 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:87744979C>T ENST00000273905.6 - 6 1143 c.996G>A c.(994-996)acG>acA p.T332T NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 332 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) TCGATTTCCTCGTATGGCAGA 0.463000 51 68 0 0 0.000781405 0 0 MYOCD 93649 broad.mit.edu 37 17 12639612 12639612 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:12639612G>A ENST00000425538.1 + 6 750 c.550G>A c.(550-552)Gcc>Acc p.A184T MYOCD_ENST00000395988.1_Missense_Mutation_p.A88T|MYOCD_ENST00000343344.4_Missense_Mutation_p.A184T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 184 HDAC5-binding (By similarity). 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) AGACGCTAAAGCCTCAGATAC 0.473000 27 50 0 0 0.000720815 0 0 C1orf173 127254 broad.mit.edu 37 1 75055760 75055760 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75055760C>T ENST00000326665.5 - 12 1949 c.1731G>A c.(1729-1731)atG>atA p.M577I C1orf173_ENST00000420661.2_Missense_Mutation_p.M380I|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 577 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AAGCAGTTTTCATATCTACAA 0.353000 7 10 0 0 0.00198382 0 0 SYT14 255928 broad.mit.edu 37 1 210194504 210194504 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:210194504C>T ENST00000537238.1 + 5 624 c.233C>T c.(232-234)tCt>tTt p.S78F SYT14_ENST00000367019.1_Missense_Mutation_p.S116F|SYT14_ENST00000422431.1_Missense_Mutation_p.S161F|SYT14_ENST00000534859.1_Missense_Mutation_p.S116F|SYT14_ENST00000399639.2_Missense_Mutation_p.S116F|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Missense_Mutation_p.S116F|SYT14_ENST00000367015.1_Missense_Mutation_p.S78F NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 116 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CTGGCAGATTCTAGACAAAGG 0.433000 12 42 0 0 0.00136819 0 0 GHSR 2693 broad.mit.edu 37 3 172163185 172163185 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:172163185G>A ENST00000241256.2 - 2 909 c.867C>T c.(865-867)tcC>tcT p.S289S NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 289 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) CAGGCTCAAAGGATTTGGAAA 0.498000 10 31 0 0 0.000442599 0 0 UGT2A3 79799 broad.mit.edu 37 4 69811101 69811101 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:69811101C>T ENST00000251566.4 - 2 817 c.787G>A c.(787-789)Gaa>Aaa p.E263K UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 263 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 TGAGGAAATTCAAAATCCCAA 0.373000 18 44 0 0 0.00074312 0 0 CYR61 3491 broad.mit.edu 37 1 86046709 86046709 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:86046709C>T ENST00000451137.2 + 1 266 c.42C>T c.(40-42)acC>acT p.T14T NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 14 cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) TAGTCGTCACCCTTCTCCACT 0.652000 5 15 0 0 0.00198382 0 0 PTPRT 11122 broad.mit.edu 37 20 41306568 41306568 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:41306568C>T ENST00000373198.3 - 7 1326 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q PTPRT_ENST00000356100.2_Missense_Mutation_p.R364Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R364Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R364Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R364Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 364 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTCACCTGGTCGTGTGAGGAG 0.562000 11 52 0 0 0.000673444 0 0 SPTLC2 9517 broad.mit.edu 37 14 78063594 78063594 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:78063594G>A ENST00000216484.2 - 2 455 c.262C>T c.(262-264)Cga>Tga p.R88* NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 88 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAGAAATCTCGAAGATATCCA 0.383000 15 15 0 0 0.000308642 0 0 EYA2 2139 broad.mit.edu 37 20 45801394 45801394 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:45801394C>T ENST00000327619.5 + 12 1451 c.1077C>T c.(1075-1077)gcC>gcT p.A359A EYA2_ENST00000357410.3_Silent_p.A359A|EYA2_ENST00000317304.6_Silent_p.A329A NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 359 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) ACAGTTCGGCCCCAGGAGCCA 0.632000 45 17 0 0 0.000781405 0 0 PSD4 23550 broad.mit.edu 37 2 113940076 113940076 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:113940076G>A ENST00000245796.6 + 2 238 c.43G>A c.(43-45)Gaa>Aaa p.E15K PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.E15K NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 15 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 CCAGCCCATGGAAATTCTCAA 0.592000 14 35 0 0 0.00244969 0 0 COL11A1 1301 broad.mit.edu 37 1 103352381 103352381 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:103352381G>A ENST00000358392.2 - 63 5193 c.4876C>T c.(4876-4878)Cat>Tat p.H1626Y COL11A1_ENST00000370096.3_Missense_Mutation_p.H1614Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.H1498Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.H1575Y NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1614 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.H1614N(1)|p.H1626N(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AAGTCAGGATGGCTGAGTTGC 0.438000 31 154 0 0 0.0024448 0 0 EXO5 64789 broad.mit.edu 37 1 40980291 40980291 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:40980291C>T ENST00000372703.1 + 2 1149 c.75C>T c.(73-75)ttC>ttT p.F25F EXO5_ENST00000471429.1_3'UTR|RP11-656D10.5_ENST00000453437.1_RNA|EXO5_ENST00000296380.4_Silent_p.F25F|EXO5_ENST00000358527.2_Silent_p.F25F exonuclease 5 ACTCAGAGTTCCTGGAGTTTC 0.493000 70 60 0 0 0.000781405 0 0 FRAS1 80144 broad.mit.edu 37 4 79360134 79360134 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:79360134C>T ENST00000264895.6 + 40 5885 c.5445C>T c.(5443-5445)aaC>aaT p.N1815N FRAS1_ENST00000325942.6_Silent_p.N1815N NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1814 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 TGGACCACAACCATCTGGATA 0.383000 54 129 0 0 0.000781405 0 0 OR56B1 387748 broad.mit.edu 37 11 5758025 5758025 + Silent SNP C C T rs141704797 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5758025C>T ENST00000317121.3 + 1 345 c.279C>T c.(277-279)atC>atT p.I93I TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) TCCTGGCCATCTTCTGGTTTG 0.468000 9 39 0 0 0.000673444 0 0 NLRP1 22861 broad.mit.edu 37 17 5462527 5462527 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:5462527C>T ENST00000345221.3 - 4 2043 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E497K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E497K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E497K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E497K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E497K 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 1 497 NACHT. 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) GCTTGCCTTTCATCTGTGAAA 0.507000 31 35 0 0 0.000692331 0 0 ZMYM2 7750 broad.mit.edu 37 13 20659964 20659964 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:20659964C>T ENST00000382869.3 + 25 4195 c.3944C>T c.(3943-3945)cCa>cTa p.P1315L ZMYM2_ENST00000382874.2_Missense_Mutation_p.P1315L|ZMYM2_ENST00000382870.2_Missense_Mutation_p.P695L|ZMYM2_ENST00000382871.2_Missense_Mutation_p.P1315L NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 1315 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) CTCCAAAGTCCACAGAATCTT 0.378000 12 38 0 0 0.00136819 0 0 PLCE1 51196 broad.mit.edu 37 10 96084175 96084175 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96084175G>A ENST00000260766.3 + 31 7205 c.6571G>A c.(6571-6573)Gaa>Aaa p.E2191K PLCE1_ENST00000371375.1_Missense_Mutation_p.E1883K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1883K|PLCE1_ENST00000371380.2_Missense_Mutation_p.E2191K|NOC3L_ENST00000543788.1_Intron NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 2191 Ras-associating 2. 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) TGTGCTTTTGGAAGAGGTGGT 0.448000 69 79 0 0 0.000781405 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798468 160798468 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:160798468G>A ENST00000283243.7 - 30 4419 c.4213C>T c.(4213-4215)Ctg>Ttg p.L1405L PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1405 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATCAGTGTCAGTACAACCGCA 0.403000 31 72 0 0 0.00128727 0 0 LIMS2 55679 broad.mit.edu 37 2 128412413 128412413 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:128412413C>T ENST00000409455.1 - 3 849 c.214G>A c.(214-216)Gga>Aga p.G72R LIMS2_ENST00000355119.4_Missense_Mutation_p.G77R|LIMS2_ENST00000410011.1_Missense_Mutation_p.G72R|LIMS2_ENST00000324938.5_Missense_Mutation_p.G101R|LIMS2_ENST00000545738.2_Missense_Mutation_p.G99R|LIMS2_ENST00000409808.2_Missense_Mutation_p.G72R Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 77 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) CCGCAGGATCCACAGCACGGA 0.602000 8 15 0 0 0.000274275 0 0 ANKRD16 54522 broad.mit.edu 37 10 5925946 5925946 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:5925946G>A ENST00000380094.5 - 4 1216 c.673C>T c.(673-675)Ctc>Ttc p.L225F ANKRD16_ENST00000380092.4_Missense_Mutation_p.L225F|ANKRD16_ENST00000191063.8_Missense_Mutation_p.L225F NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 225 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 TGTTCATCGAGGAGCAGCCTA 0.453000 12 37 0 0 0.000308642 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176535 140176535 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140176535G>A ENST00000526136.1 + 1 1986 c.1986G>A c.(1984-1986)acG>acA p.T662T PCDHA2_ENST00000520672.2_Silent_p.T662T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.T662T|PCDHA1_ENST00000504120.2_Intron 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) TGACAGCCACGGCCACCGTGT 0.662000 22 52 0 0 0.00229938 0 0 ZNF317 57693 broad.mit.edu 37 19 9267379 9267379 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9267379C>T ENST00000247956.6 + 3 422 c.117C>T c.(115-117)ttC>ttT p.F39F ZNF317_ENST00000360385.3_Silent_p.F39F NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGGACCTGTTCGTGTGCAGTG 0.552000 29 60 0 0 0.00283554 0 0 OR10K2 391107 broad.mit.edu 37 1 158389999 158389999 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158389999G>A ENST00000314902.2 - 1 657 c.658C>T c.(658-660)Cac>Tac p.H220Y NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 220 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) GAGAGGATGTGAACATAGGAC 0.448000 14 36 0 0 0.000422831 0 0 PRKACG 5568 broad.mit.edu 37 9 71628928 71628928 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:71628928G>A ENST00000377276.2 - 1 111 c.81C>T c.(79-81)ttC>ttT p.F27F NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 27 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ATCTGTAGAGGAAATCTCCTC 0.642000 31 30 0 0 0.000814825 0 0 PLCH1 23007 broad.mit.edu 37 3 155200480 155200480 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:155200480T>A ENST00000460012.1 - 23 3602 c.3245A>T c.(3244-3246)aAa>aTa p.K1082I PLCH1_ENST00000340059.7_Missense_Mutation_p.K1120I|PLCH1_ENST00000414191.1_Missense_Mutation_p.K1082I|PLCH1_ENST00000334686.6_Missense_Mutation_p.K1082I|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1120 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAAGATGCTTTTCCCTTCCAC 0.458000 22 62 0 0 0.00152264 0 0 CLDN16 10686 broad.mit.edu 37 3 190122642 190122642 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:190122642G>A ENST00000264734.2 + 3 767 c.519G>A c.(517-519)gtG>gtA p.V173V CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 173 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 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) TTGACTGCGTGAAATTCCTCC 0.498000 29 39 0 0 0.00127121 0 0 ALPK2 115701 broad.mit.edu 37 18 56203320 56203320 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:56203320C>T ENST00000361673.3 - 5 4312 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1367 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTAACATTTTCCTTCCCTCCA 0.453000 31 64 0 0 0.00058488 0 0 ANK2 287 broad.mit.edu 37 4 114277268 114277268 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:114277268C>T ENST00000357077.4 + 38 7547 c.7494C>T c.(7492-7494)ctC>ctT p.L2498L ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L2465L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2465 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) AAACAGAACTCTTGACGGAAG 0.537000 30 47 0 0 0.001512 0 0 ALPK3 57538 broad.mit.edu 37 15 85401399 85401399 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:85401399C>T ENST00000258888.5 + 6 4203 c.4036C>T c.(4036-4038)Cca>Tca p.P1346S NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1346 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGAGAAGTTCCCAGGGGAGGC 0.647000 8 5 0 0 0.000442599 0 0 LPIN3 64900 broad.mit.edu 37 20 39978916 39978916 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:39978916G>A ENST00000373257.3 + 7 1072 c.981G>A c.(979-981)gaG>gaA p.E327E NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 327 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CAGAGACAGAGGAAAGCAAGA 0.617000 9 27 0 0 0.000274275 0 0 OR13C3 138803 broad.mit.edu 37 9 107299020 107299020 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107299020G>A ENST00000374781.2 - 1 117 c.75C>T c.(73-75)ttC>ttT p.F25F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 25 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 CTGCTTTCAGGAAATCAAAAG 0.348000 14 35 0 0 0.00244969 0 0 RP1L1 94137 broad.mit.edu 37 8 10480452 10480452 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:10480452A>G ENST00000382483.3 - 2 483 c.260T>C c.(259-261)cTg>cCg p.L87P RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 87 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) GAGGCTATGCAGGCCCCGGGG 0.652000 8 19 0 0 0.000442599 0 0 AZGP1 563 broad.mit.edu 37 7 99566050 99566050 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:99566050G>A ENST00000411734.1 - 3 337 c.332C>T c.(331-333)tCt>tTt p.S111F AZGP1_ENST00000292401.4_Missense_Mutation_p.S114F P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 114 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CAATACGTGAGACCCTGAAAA 0.433000 76 190 0 0 0.000781405 0 0 ADAM7 8756 broad.mit.edu 37 8 24350052 24350052 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24350052G>A ENST00000175238.6 + 15 1680 c.1597G>A c.(1597-1599)Gga>Aga p.G533R RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G305R|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G533R NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 533 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding 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) GAATACAAAAGGAAATAAATT 0.343000 29 118 0 0 0.000692331 0 0 GRK1 6011 broad.mit.edu 37 13 114322064 114322064 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:114322064C>T ENST00000335678.6 + 1 595 c.363C>T c.(361-363)ctC>ctT p.L121L NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 121 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) AGGCCAAACTCTTCTGCAGCT 0.602000 11 21 0 0 0.000673444 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764324 77764324 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77764324C>T ENST00000521891.2 + 10 5615 c.5167C>T c.(5167-5169)Cct>Tct p.P1723S ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1678S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1678S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1697S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1678 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1723T(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCATTTTCCTATGACCCC 0.473000 HNSCC(33;0.089) 23 43 0 0 0.000586117 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642863 1642863 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:1642863G>A ENST00000399682.1 - 1 505 c.461C>T c.(460-462)tCc>tTc p.S154F NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 214 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) CTGGCAGCAGGATGACCCACA 0.622000 46 86 0 0 0.000781405 0 0 TDRD10 126668 broad.mit.edu 37 1 154517284 154517284 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:154517284G>A ENST00000368482.4 + 11 1649 c.811G>A c.(811-813)Gac>Aac p.D271N TDRD10_ENST00000368480.3_Missense_Mutation_p.D271N|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 271 Tudor. nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TTGGGTGCTGGACAGGGTGGA 0.537000 9 36 0 0 0.000673444 0 0 DSPP 1834 broad.mit.edu 37 4 88533960 88533960 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88533960G>A ENST00000399271.1 + 4 742 c.622G>A c.(622-624)Ggt>Agt p.G208S DSPP_ENST00000282478.7_Missense_Mutation_p.G208S|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 208 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TAGAAACGAGGGTAATACAAG 0.438000 5 23 0 0 0.000157383 0 0 CASP14 23581 broad.mit.edu 37 19 15166855 15166855 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15166855C>T ENST00000427043.3 + 7 992 c.684C>T c.(682-684)aaC>aaT p.N228N CASP14_ENST00000221740.1_Silent_p.N228N NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 228 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 GGAAAACGAACCCTGAAATCC 0.512000 3 6 0 0 0.000602214 0 0 MAP3K14 9020 broad.mit.edu 37 17 43364173 43364173 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:43364173G>A ENST00000344686.2 - 0 882 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GTCTGCTATAGGGGAAGGGGT 0.612000 4 13 0 0 0.000602214 0 0 CD300A 11314 broad.mit.edu 37 17 72469840 72469840 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:72469840G>A ENST00000360141.3 + 2 494 c.206G>A c.(205-207)gGa>gAa p.G69E CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 69 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GGGTCAGCAGGAAAAAGGAAC 0.517000 25 46 0 0 0.00127121 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255997 9255997 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:9255997A>C ENST00000383440.2 + 8 2920 c.2663A>C c.(2662-2664)cAt>cCt p.H888P ANKRD12_ENST00000400020.3_Missense_Mutation_p.H888P|ANKRD12_ENST00000262126.3_Missense_Mutation_p.H911P NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 911 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 GATAGGAAACATGACAAAGAA 0.338000 3 7 0 0 0.00024832 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532213 84532213 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:84532213C>T ENST00000527857.1 + 0 2235 NR_026851.1 ATTCATGGACCGTTAAATATC 0.483000 20 23 0 0 0.00229938 0 0 FBXO40 51725 broad.mit.edu 37 3 121345629 121345629 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121345629C>T ENST00000338040.4 + 4 2416 c.2002C>T c.(2002-2004)Cct>Tct p.P668S NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 668 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GAAGTCCTGTCCTTTCAACAT 0.478000 34 80 0 0 0.000692331 0 0 FAM13C 220965 broad.mit.edu 37 10 61029827 61029827 + Missense_Mutation SNP C C T rs143474599 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:61029827C>T ENST00000373867.3 - 8 851 c.386G>A c.(385-387)aGt>aAt p.S129N FAM13C_ENST00000373868.2_Missense_Mutation_p.S212N|FAM13C_ENST00000435852.2_Missense_Mutation_p.S212N|FAM13C_ENST00000277705.6_Missense_Mutation_p.S233N|FAM13C_ENST00000468840.2_Missense_Mutation_p.S129N|FAM13C_ENST00000419214.2_Missense_Mutation_p.S212N|FAM13C_ENST00000442566.3_Missense_Mutation_p.S233N|FAM13C_ENST00000422313.2_Missense_Mutation_p.S212N NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 212 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 TTCTGGTGCACTGTCGGCCTC 0.532000 22 23 0 0 0.00127121 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579759 44579759 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:44579759G>A ENST00000289547.4 - 2 292 c.237C>T c.(235-237)ccC>ccT p.P79P NPC1L1_ENST00000546276.1_Silent_p.P79P|NPC1L1_ENST00000423141.1_Silent_p.P79P|NPC1L1_ENST00000381160.3_Silent_p.P79P NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 79 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGTAGAGGCGGGGGCAGATCT 0.602000 7 22 0 0 0.00198382 0 0 GPR115 221393 broad.mit.edu 37 6 47681824 47681824 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47681824G>A ENST00000283303.2 + 6 1101 c.843G>A c.(841-843)agG>agA p.R281R GPR115_ENST00000371220.1_Silent_p.R338R|GPR115_ENST00000327753.3_Silent_p.R281R NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 281 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 AAGAGCTAAGGAAGCTGTGGC 0.463000 17 36 0 0 0.000958276 0 0 ASPA 443 broad.mit.edu 37 17 3397679 3397679 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:3397679A>G ENST00000263080.2 + 5 828 c.670A>G c.(670-672)Aaa>Gaa p.K224E SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.K224E NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 224 aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TGAGGTCTATAAAATTATAGA 0.393000 107 106 0 0 0.000781405 0 0 SPEG 10290 broad.mit.edu 37 2 220338538 220338538 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220338538G>A ENST00000312358.7 + 18 4492 c.4360G>A c.(4360-4362)Gtg>Atg p.V1454M SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1454 Ig-like 7. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GATCTGCCGGGTGAGCCGCCG 0.662000 27 57 0 0 0.00209593 0 0 KITLG 4254 broad.mit.edu 37 12 88939543 88939543 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:88939543C>T ENST00000347404.5 - 2 687 c.115G>A c.(115-117)Gac>Aac p.D39N KITLG_ENST00000228280.5_Missense_Mutation_p.D39N|KITLG_ENST00000357116.4_Intron NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 39 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 TTAGTGACGTCTTTTACATTA 0.378000 Testicular Cancer, Familial Clustering of 10 31 0 0 0.00136819 0 0 PHF12 57649 broad.mit.edu 37 17 27233206 27233206 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:27233206G>A ENST00000332830.4 - 15 3820 c.3010C>T c.(3010-3012)Cct>Tct p.P1004S PHF12_ENST00000577226.1_3'UTR NM_001033561.1 NP_001028733.1 Q96QT6 PHF12_HUMAN PHD finger protein 12 1004 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAGTCCTAAGGAACAGAGTTG 0.587000 12 24 0 0 0.00136819 0 0 SP140L 93349 broad.mit.edu 37 2 231253340 231253340 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:231253340G>A ENST00000243810.6 + 10 851 c.851G>A c.(850-852)cGa>cAa p.R284Q SP140L_ENST00000444636.1_Missense_Mutation_p.R284Q|SP140L_ENST00000415673.2_Missense_Mutation_p.R284Q|SP140L_ENST00000396563.4_Missense_Mutation_p.R284Q Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 284 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAAAGAGTCCGATCAAGAGGT 0.353000 8 19 0 0 0.000274275 0 0 GABRG1 2565 broad.mit.edu 37 4 46067418 46067418 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:46067418G>A ENST00000295452.4 - 4 672 c.505C>T c.(505-507)Cga>Tga p.R169* NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 169 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R169*(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTCCAAATTCGAAGCAGACGA 0.323000 21 59 0 0 0.00278032 0 0 ATP10A 57194 broad.mit.edu 37 15 25925961 25925961 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:25925961G>A ENST00000356865.6 - 19 3785 c.3674C>T c.(3673-3675)aCc>aTc p.T1225I NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1225 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCTTACCCAGGTTTTGGTTTC 0.557000 36 42 0 0 0.00111076 0 0 COL5A1 1289 broad.mit.edu 37 9 137630331 137630331 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:137630331C>T ENST00000371817.3 + 10 1815 c.1401C>T c.(1399-1401)atC>atT p.I467I NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 467 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GCATGCTCATCGAGGGCCCGC 0.647000 14 42 0 0 0.000422831 0 0 VSTM2A 222008 broad.mit.edu 37 7 54610435 54610435 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:54610435C>T ENST00000302287.3 + 1 418 c.12C>T c.(10-12)atC>atT p.I4I VSTM2A_ENST00000402026.2_Silent_p.I3I|VSTM2A_ENST00000407838.3_Silent_p.I4I|VSTM2A_ENST00000404951.1_Silent_p.I4I|VSTM2A_ENST00000402613.3_Silent_p.I4I Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 4 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) TGATGGGGATCTTTTTGGTGT 0.448000 28 75 0 0 0.00127121 0 0 PSG6 5675 broad.mit.edu 37 19 43421896 43421896 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43421896C>T ENST00000187910.2 - 1 114 c.49G>A c.(49-51)Ggg>Agg p.G17R PSG6_ENST00000601833.1_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.G17R|PSG6_ENST00000402603.4_Missense_Mutation_p.G17R NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) AGCAGGAGCCCCTTCCAGGTG 0.582000 29 80 0 0 0.00209593 0 0 SDK2 54549 broad.mit.edu 37 17 71426669 71426669 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:71426669C>T ENST00000392650.3 - 12 1564 c.1564G>A c.(1564-1566)Gac>Aac p.D522N SDK2_ENST00000388726.3_Missense_Mutation_p.D522N NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 522 Ig-like C2-type 6. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACTCGGGGGTCGTGGGTCACT 0.607000 6 10 0 0 0.000274275 0 0 LPAR1 1902 broad.mit.edu 37 9 113703937 113703937 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:113703937C>T ENST00000374431.3 - 4 940 c.557G>A c.(556-558)tGg>tAg p.W186* LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W186*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W187*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W187*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W186* NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 186 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GATACAGTTCCAGCCCACACT 0.493000 63 58 0 0 0.000781405 0 0 PROM2 150696 broad.mit.edu 37 2 95941806 95941806 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:95941806G>A ENST00000317620.9 + 3 556 c.423G>A c.(421-423)aaG>aaA p.K141K PROM2_ENST00000542147.1_Silent_p.K141K|PROM2_ENST00000317668.4_Silent_p.K141K|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000403131.2_Silent_p.K141K NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 141 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 GACGAGTGAAGACAGAGCACA 0.677000 11 15 0 0 0.000673444 0 0 ALDH2 217 broad.mit.edu 37 12 112229871 112229871 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:112229871C>T ENST00000261733.2 + 8 863 c.802C>T c.(802-804)Cgc>Tgc p.R268C ALDH2_ENST00000416293.3_Missense_Mutation_p.R221C NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 268 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) ACAGATTGGCCGCGTAATCCA 0.547000 T HMGA2 leiomyoma 10 43 0 0 0.000442599 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332974 100332974 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:100332974G>A ENST00000341853.1 - 0 1217 NR_003260.1 GGGCAGGGGAGGCTCTCACTG 0.627000 5 76 0 0 0.000958276 0 0 C17orf97 400566 broad.mit.edu 37 17 263815 263815 + Missense_Mutation SNP C C T rs148328036 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:263815C>T ENST00000360127.6 + 2 1197 c.1181C>T c.(1180-1182)aCg>aTg p.T394M C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 424 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 AGGCAGCCCACGTCGAAAGCC 0.552000 28 56 0 0 0.000878237 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368549 18368549 + Missense_Mutation SNP T T G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:18368549T>G ENST00000392413.3 - 4 3760 c.3545A>C c.(3544-3546)cAc>cCc p.H1182P KIAA1683_ENST00000600328.2_Missense_Mutation_p.H995P|KIAA1683_ENST00000600359.2_Missense_Mutation_p.H949P NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CATCTGCCAGTGCCGGGCTTG 0.682000 7 19 0 0 0.00198382 0 0 DNAH17 8632 broad.mit.edu 37 17 76423027 76423027 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76423027C>T ENST00000389840.5 - 78 12944 c.12820G>A c.(12820-12822)Gag>Aag p.E4274K DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.E4246K 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) AGGTTCAGCTCCTTGAGCGAA 0.572000 6 9 0 0 0.000157383 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36207788 36207788 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:36207788A>G ENST00000258840.6 - 12 1908 c.1518T>C c.(1516-1518)ggT>ggC p.G506G RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.G506G|RALGAPA1_ENST00000382366.3_Silent_p.G506G|RALGAPA1_ENST00000307138.6_Silent_p.G506G Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 506 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TATGAAGAGCACCTTGGTAGG 0.398000 31 49 0 0 0.000953801 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090803 91090803 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:91090803C>T ENST00000373094.1 + 1 1145 c.300C>T c.(298-300)atC>atT p.I100I PCDH11X_ENST00000361655.2_Silent_p.I100I|PCDH11X_ENST00000361724.1_Silent_p.I100I|PCDH11X_ENST00000504220.1_Silent_p.I100I|PCDH11X_ENST00000395337.2_Silent_p.I100I|PCDH11X_ENST00000373097.1_Silent_p.I100I|PCDH11X_ENST00000298274.8_Silent_p.I100I|PCDH11X_ENST00000373088.1_Silent_p.I100I|PCDH11X_ENST00000406881.1_Silent_p.I100I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 100 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding 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 GTGCTGGTATCCCAAGGGATG 0.418000 63 36 0 0 0.000781405 0 0 TM9SF2 9375 broad.mit.edu 37 13 100207847 100207847 + Silent SNP T T G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:100207847T>G ENST00000376387.4 + 15 1888 c.1698T>G c.(1696-1698)gtT>gtG p.V566V NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 566 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TCATTTTGGTTATTACCTGTT 0.328000 16 50 0 0 0.000566183 0 0 CRAT 1384 broad.mit.edu 37 9 131860856 131860856 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131860856G>A ENST00000318080.2 - 9 1453 c.1159C>T c.(1159-1161)Ccc>Tcc p.P387S RP11-247A12.1_ENST00000434250.1_RNA NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 387 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) TTGATCTCGGGGGTGATGTTG 0.617000 36 127 0 0 0.00148497 0 0 GBA3 57733 broad.mit.edu 37 4 22729516 22729516 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:22729516G>A ENST00000511446.1 + 0 61 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TAGGATATCAGGAGACATGTT 0.363000 32 60 0 0 0.00058488 0 0 EPN1 29924 broad.mit.edu 37 19 56203242 56203242 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56203242C>T ENST00000411543.2 + 7 1690 c.1143C>T c.(1141-1143)ccC>ccT p.P381P EPN1_ENST00000085079.7_Silent_p.P270P|EPN1_ENST00000270460.6_Silent_p.P295P NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 295 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) CCTCGGACCCCTGGGGCGGCC 0.756000 10 9 0 0 0.000673444 0 0 ATP10D 57205 broad.mit.edu 37 4 47574980 47574980 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:47574980C>T ENST00000273859.3 + 18 3601 c.3332C>T c.(3331-3333)tCc>tTc p.S1111F NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1111 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ACACGGCTTTCCAACATGATT 0.448000 47 111 0 0 0.000781405 0 0 PENK 5179 broad.mit.edu 37 8 57354177 57354177 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:57354177G>A ENST00000314922.3 - 2 534 c.458C>T c.(457-459)tCc>tTc p.S153F PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.S153F NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 153 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity p.S153C(1) 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) CAGGTCTGAGGAATTGGCCAG 0.527000 34 55 0 0 0.000814825 0 0 NUAK2 81788 broad.mit.edu 37 1 205273169 205273169 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205273169G>A ENST00000367157.3 - 7 1422 c.1296C>T c.(1294-1296)atC>atT p.I432I NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 432 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GGCTCGCAGGGATTGGGCTGA 0.622000 14 23 0 0 0.000308642 0 0 HOXA2 3199 broad.mit.edu 37 7 27141067 27141067 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:27141067C>T ENST00000222718.5 - 2 719 c.409G>A c.(409-411)Gat>Aat p.D137N NM_006735.3 NP_006726.1 O43364 HXA2_HUMAN homeobox A2 137 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 CCGCTGCCATCGGCGATTTCC 0.527000 10 19 0 0 0.00136819 0 0 NUP62 23636 broad.mit.edu 37 19 50411634 50411634 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50411634G>A ENST00000596217.1 - 2 3318 c.1431C>T c.(1429-1431)atC>atT p.I477I IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Silent_p.I401I|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.I477I|NUP62_ENST00000422090.2_Silent_p.I477I|NUP62_ENST00000352066.3_Silent_p.I477I|NUP62_ENST00000597029.1_Silent_p.I477I P37198 NUP62_HUMAN nucleoporin 62kDa 477 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GCGCATTGAGGATCTTGCAGA 0.622000 34 73 0 0 0.00058488 0 0 OR2B6 26212 broad.mit.edu 37 6 27925618 27925618 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:27925618C>T ENST00000244623.1 + 1 600 c.600C>T c.(598-600)ttC>ttT p.F200F NM_012367.1 NP_036499.1 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, member 6 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTGAACTATTCCTTGTCAGTG 0.438000 30 115 0 0 0.00178596 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141858 133141858 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133141858C>T ENST00000388996.4 - 15 2690 c.2270G>A c.(2269-2271)cGa>cAa p.R757Q KCNQ3_ENST00000521134.1_Missense_Mutation_p.R637Q|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R745Q NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 757 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) GCAGCTCACTCGGGAGTCGAG 0.602000 9 16 0 0 0.000274275 0 0 CATSPERG 57828 broad.mit.edu 37 19 38847151 38847151 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:38847151C>T ENST00000409235.3 + 10 1278 c.1163C>T c.(1162-1164)cCc>cTc p.P388L CATSPERG_ENST00000410018.1_Missense_Mutation_p.P388L|CATSPERG_ENST00000215069.4_Intron NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 388 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GAGATGCTGCCCAGGCAGTGG 0.597000 14 38 0 0 0.00244969 0 0 RHOT1 55288 broad.mit.edu 37 17 30527974 30527974 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:30527974G>A ENST00000358365.3 + 14 1327 c.e14-1 RHOT1_ENST00000545287.2_Splice_Site|RHOT1_ENST00000394692.2_Splice_Site|RHOT1_ENST00000354266.3_Splice_Site|RHOT1_ENST00000333942.6_Splice_Site|RHOT1_ENST00000583994.1_Splice_Site|RHOT1_ENST00000581094.1_Splice_Site NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 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 NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) TTCTTTCATAGGCTCACGACT 0.363000 43 52 0 0 0.00285205 0 0 LILRA2 11027 broad.mit.edu 37 19 55086445 55086445 + Silent SNP G G A rs141931276 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55086445G>A ENST00000251377.3 + 5 733 c.600G>A c.(598-600)tcG>tcA p.S200S LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S200S|LILRA2_ENST00000391737.1_Silent_p.S188S|LILRA2_ENST00000251376.3_Silent_p.S200S|LILRB1_ENST00000418536.2_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) CTTATGACTCGAACTCTCCCT 0.577000 36 92 0 0 0.00128727 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220398 130220398 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:130220398C>T ENST00000276211.5 + 10 1722 c.1377C>T c.(1375-1377)atC>atT p.I459I ARHGAP36_ENST00000370921.1_Silent_p.I323I|ARHGAP36_ENST00000370922.1_Silent_p.I447I NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 459 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 TGAGGAAGATCCAGTGAGTGT 0.468000 32 15 0 0 0.00058488 0 0 ROS1 6098 broad.mit.edu 37 6 117609907 117609907 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117609907C>T ENST00000368508.3 - 43 6990 c.6792G>A c.(6790-6792)atG>atA p.M2264I ROS1_ENST00000368507.3_Missense_Mutation_p.M2258I NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2264 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCTTCGTTTCCATTAAAGCAA 0.388000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 37 0 0 0.00152264 0 0 OR2V2 285659 broad.mit.edu 37 5 180582573 180582573 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:180582573C>T ENST00000328275.1 + 1 631 c.631C>T c.(631-633)Cca>Tca p.P211S NM_206880.1 NP_996763.1 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, member 2 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTCTCTTCCCATTCTCCAT 0.502000 41 120 0 0 0.00222228 0 0 TAT 6898 broad.mit.edu 37 16 71610138 71610138 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:71610138C>T ENST00000355962.4 - 2 314 c.181G>A c.(181-183)Gac>Aac p.D61N RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 61 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TTCATGTTGTCCACAATGGCT 0.498000 10 8 0 0 0.000978159 0 0 FAM24A 118670 broad.mit.edu 37 10 124671148 124671148 + Splice_Site SNP G G A rs34697731 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124671148G>A ENST00000368894.1 + 2 119 c.e2-1 NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) TTTCTCCTTAGGCATGGCAAA 0.507000 58 66 0 0 0.000781405 0 0 SLC12A8 84561 broad.mit.edu 37 3 124896669 124896669 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:124896669G>A ENST00000423114.2 - 5 626 c.627C>T c.(625-627)atC>atT p.I209I SLC12A8_ENST00000393469.4_Silent_p.I180I|SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.I180I A0AV02 S12A8_HUMAN solute carrier family 12, member 8 180 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GCTGGAGGCGGATTATCCATT 0.557000 10 34 0 0 0.00136819 0 0 ZIC2 7546 broad.mit.edu 37 13 100635374 100635374 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:100635374C>T ENST00000376335.3 + 1 1349 c.1056C>T c.(1054-1056)atC>atT p.I352I NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 352 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) ACCTCAAGATCCACAAAAGGA 0.642000 12 31 0 0 0.00185496 0 0 NELL1 4745 broad.mit.edu 37 11 20940877 20940877 + Silent SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:20940877A>T ENST00000298925.5 + 8 993 c.840A>T c.(838-840)gcA>gcT p.A280A NELL1_ENST00000325319.5_Silent_p.A195A|NELL1_ENST00000532434.1_Silent_p.A252A|NELL1_ENST00000357134.5_Silent_p.A252A Q92832 NELL1_HUMAN NEL-like 1 (chicken) 252 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGATGACTGCAAAAGTAGGTA 0.348000 24 46 0 0 0.001512 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915711 202915711 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:202915711G>A ENST00000340990.5 - 4 584 c.286C>T c.(286-288)Cca>Tca p.P96S ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P96S|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P96S NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 96 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) ACATCATATGGGATGACCCTC 0.507000 13 57 0 0 0.00244969 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326359 25326359 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:25326359G>A ENST00000546682.1 + 0 59 SNHG14_ENST00000549804.2_RNA NR_003361.1 AGGCTGTTGGGATCCTCCTGG 0.498000 6 11 0 0 0.00116845 0 0 INO80D 54891 broad.mit.edu 37 2 206921299 206921299 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:206921299G>A ENST00000403263.1 - 4 991 c.587C>T c.(586-588)cCc>cTc p.P196L NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 196 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 TGCAGGAGGGGGACTAAAGTG 0.537000 5 8 0 0 0.000602214 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785559 209785559 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209785559A>T ENST00000009105.1 + 11 1583 c.1338A>T c.(1336-1338)aaA>aaT p.K446N CAMK1G_ENST00000361322.2_Missense_Mutation_p.K446N Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 446 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CCAACAAAAAACAGTACGTAT 0.512000 8 31 0 0 0.000442599 0 0 TRPC4 7223 broad.mit.edu 37 13 38237841 38237841 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:38237841G>A ENST00000379705.3 - 6 2257 c.1400C>T c.(1399-1401)tCa>tTa p.S467L TRPC4_ENST00000358477.2_Missense_Mutation_p.S467L|TRPC4_ENST00000447043.1_Missense_Mutation_p.S467L|TRPC4_ENST00000355779.2_Missense_Mutation_p.S467L|TRPC4_ENST00000379679.1_Missense_Mutation_p.S294L|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.S467L|TRPC4_ENST00000338947.5_Missense_Mutation_p.S294L|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.S467L Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 467 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.S467L(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CATGTCCCATGATTCTCGTGG 0.423000 13 25 0 0 0.00244969 0 0 COL11A1 1301 broad.mit.edu 37 1 103388896 103388896 + Missense_Mutation SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:103388896G>C ENST00000358392.2 - 47 4003 c.3686C>G c.(3685-3687)cCc>cGc p.P1229R COL11A1_ENST00000370096.3_Missense_Mutation_p.P1217R|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1101R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1178R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1217 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACTTACCATGGGACCAACATC 0.338000 4 15 0 0 0.00024832 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471570 61471570 + Nonsense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61471570G>T ENST00000398019.2 + 8 1169 c.844G>T c.(844-846)Gag>Tag p.E282* SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.E282*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.E265*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.E282* NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 282 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) GTTCAAGATAGAGAAGAATTA 0.398000 11 37 0.000673444 0.0026062 0.000673444 1 0 TNXB 7148 broad.mit.edu 37 6 32036257 32036257 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32036257C>T ENST00000375244.3 - 17 6331 c.6130G>A c.(6130-6132)Ggc>Agc p.G2044S TNXB_ENST00000375247.2_Missense_Mutation_p.G2044S P22105 TENX_HUMAN tenascin XB 2126 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 GGCTCCAGGCCCGAGATGGTG 0.602000 91 250 0 0 0.000781405 0 0 TCP11 6954 broad.mit.edu 37 6 35088283 35088283 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:35088283G>A ENST00000311875.5 - 7 1312 c.895C>T c.(895-897)Ctc>Ttc p.L299F TCP11_ENST00000373974.4_Missense_Mutation_p.L253F|TCP11_ENST00000444780.2_Missense_Mutation_p.L294F|TCP11_ENST00000412155.2_Missense_Mutation_p.L248F|TCP11_ENST00000418521.2_Missense_Mutation_p.L223F|TCP11_ENST00000244645.3_Missense_Mutation_p.L224F|TCP11_ENST00000512012.1_Missense_Mutation_p.L286F|TCP11_ENST00000373979.2_Missense_Mutation_p.L224F Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 286 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 GTGGGGCTGAGGGGCTCTGGG 0.572000 35 80 0 0 0.000692331 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307492 140307492 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140307492G>A ENST00000253807.2 + 1 1015 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018898.3 NP_061721.2 p.E339K(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATGCCCCCGAACTGGACTT 0.522000 35 78 0 0 0.00148497 0 0 TTN 7273 broad.mit.edu 37 2 179659879 179659879 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179659879G>A ENST00000589042.1 - 7 1239 c.1015C>T c.(1015-1017)Cct>Tct p.P339S TTN_ENST00000591111.1_Missense_Mutation_p.P339S|TTN_ENST00000342992.6_Missense_Mutation_p.P339S|TTN_ENST00000359218.5_Missense_Mutation_p.P339S|TTN_ENST00000360870.5_Missense_Mutation_p.P339S|TTN_ENST00000460472.2_Missense_Mutation_p.P339S|TTN_ENST00000342175.6_Missense_Mutation_p.P339S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 339 ZIS1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCACTTCAGGACCTGTGGCC 0.562000 24 41 0 0 0.000586117 0 0 ERBB4 2066 broad.mit.edu 37 2 212570094 212570094 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:212570094C>T ENST00000342788.4 - 10 1457 c.1147G>A c.(1147-1149)Gcc>Acc p.A383T ERBB4_ENST00000402597.1_Missense_Mutation_p.A383T|ERBB4_ENST00000436443.1_Missense_Mutation_p.A383T NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 383 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) GGGTCTATGGCTTCAATTGCA 0.323000 TSP Lung(8;0.080) 24 94 0 0 0.00127121 0 0 C2CD2 25966 broad.mit.edu 37 21 43342116 43342116 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43342116G>A ENST00000380486.3 - 3 698 c.457C>T c.(457-459)Ctg>Ttg p.L153L C2CD2_ENST00000329623.7_5'UTR NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 153 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ATGTCGTACAGCCGGCATCCA 0.542000 13 40 0 0 0.00244969 0 0 MYH1 4619 broad.mit.edu 37 17 10417143 10417143 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10417143G>A ENST00000226207.5 - 8 830 c.736C>T c.(736-738)Cgc>Tgc p.R246C CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 246 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTACAAAGCGAGAGGAGTTG 0.498000 19 20 0 0 0.00278032 0 0 TDRKH 11022 broad.mit.edu 37 1 151748675 151748675 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:151748675G>A ENST00000368822.1 - 8 1747 c.1114C>T c.(1114-1116)Cga>Tga p.R372* TDRKH_ENST00000440583.2_Nonsense_Mutation_p.R148*|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.R327*|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.R368*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.R372*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.R372* Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 372 Tudor. 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) ACCCGGGCTCGATACCAGGAA 0.507000 40 59 0 0 0.00195071 0 0 RGL2 5863 broad.mit.edu 37 6 33264882 33264882 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33264882G>A ENST00000497454.1 - 3 662 c.167C>T c.(166-168)tCc>tTc p.S56F PFDN6_ENST00000463584.1_3'UTR|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 56 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 ATCCCAGACGGACACAGGGGC 0.582000 16 61 0 0 0.00074312 0 0 OR52L1 338751 broad.mit.edu 37 11 6007946 6007946 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:6007946G>A ENST00000332249.4 - 1 269 c.215C>T c.(214-216)tCc>tTc p.S72F NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 72 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) TTGGTGCAAGGATGGGTCCAT 0.537000 9 21 0 0 0.000442599 0 0 SLC44A2 57153 broad.mit.edu 37 19 10741781 10741781 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10741781C>T ENST00000586078.1 + 5 403 c.294C>T c.(292-294)ccC>ccT p.P98P SLC44A2_ENST00000407327.4_Silent_p.P96P|SLC44A2_ENST00000335757.5_Silent_p.P98P NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 98 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GTGCCAGCCCCCTGGTTCTGC 0.458000 37 69 0 0 0.00111076 0 0 DNAH17 8632 broad.mit.edu 37 17 76490830 76490830 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76490830G>A ENST00000389840.5 - 40 6197 c.6073C>T c.(6073-6075)Ccc>Tcc p.P2025S RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2034S 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) GCCCGGCTGGGGTCGCCCCTC 0.627000 19 19 0 0 0.000958276 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798846 55798846 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55798846C>T ENST00000313555.1 + 1 952 c.952C>T c.(952-954)Cgt>Tgt p.R318C NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTATTTAAATCGTTTAAGAAT 0.264000 27 40 0 0 0.000878237 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717313 13717313 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13717313G>A ENST00000279593.3 - 13 3068 c.2859C>T c.(2857-2859)ccC>ccT p.P953P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 953 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P953P(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTCCTCACAGGGCGGGTTGT 0.547000 38 74 0 0 0.00111076 0 0 NYAP2 57624 broad.mit.edu 37 2 226447550 226447550 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:226447550C>T ENST00000272907.6 + 4 1830 c.1417C>T c.(1417-1419)Cct>Tct p.P473S NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 473 Pro-rich. TCCTTCAGTGCCTCACTCGAC 0.662000 17 34 0 0 0.00074312 0 0 CCSER1 401145 broad.mit.edu 37 4 91229803 91229803 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:91229803G>A ENST00000509176.1 + 2 656 c.368G>A c.(367-369)cGa>cAa p.R123Q CCSER1_ENST00000333691.8_Missense_Mutation_p.R123Q|CCSER1_ENST00000432775.2_Missense_Mutation_p.R123Q NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 AGTAGTTCACGAAATAAGAAG 0.363000 24 24 0 0 0.00047179 0 0 C10orf120 399814 broad.mit.edu 37 10 124459258 124459258 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124459258C>T ENST00000329446.4 - 1 80 c.49G>A c.(49-51)Gct>Act p.A17T NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 17 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) GTGTCACTAGCCCTCTGTTTT 0.433000 16 39 0 0 0.00188189 0 0 C7 730 broad.mit.edu 37 5 40962188 40962188 + Splice_Site SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:40962188T>C ENST00000313164.9 + 13 2022 c.1661_splice c.e13-1 p.L555_splice NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 555 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TCCTTCCAGGTTGCTTGAACC 0.358000 5 14 0 0 0.000602214 0 0 MID2 11043 broad.mit.edu 37 X 107084242 107084242 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:107084242C>T ENST00000262843.6 + 2 895 c.347C>T c.(346-348)tCc>tTc p.S116F MID2_ENST00000443968.2_Missense_Mutation_p.S116F NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 116 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 GGGCCCAATTCCCCTAGTGAG 0.562000 7 5 0 0 0.000157383 0 0 FAM193B 54540 broad.mit.edu 37 5 176951899 176951899 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176951899G>A ENST00000329540.5 - 9 3290 c.461C>T c.(460-462)cCt>cTt p.P154L FAM193B_ENST00000514747.1_Missense_Mutation_p.P528L|FAM193B_ENST00000443375.2_Missense_Mutation_p.P495L Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 204 kidney(1)|large_intestine(3) 4 GTTGATGTCAGGCTGCTGCTC 0.582000 4 7 0 0 0.00024832 0 0 MAST1 22983 broad.mit.edu 37 19 12958443 12958443 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:12958443C>T ENST00000251472.4 + 6 545 c.506C>T c.(505-507)tCc>tTc p.S169F MAST1_ENST00000591495.1_Missense_Mutation_p.S165F NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 169 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGCTCCCCCTCCTCCTACGAC 0.627000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0 0 0.00244969 0 0 PTPRM 5797 broad.mit.edu 37 18 8370887 8370887 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:8370887G>A ENST00000332175.8 + 22 4052 c.e22-1 PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTTTTCTAAAGGTCAAATGCT 0.343000 22 42 0 0 0.00106085 0 0 DAB1 1600 broad.mit.edu 37 1 57538053 57538053 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:57538053G>A ENST00000371236.2 - 5 604 c.341C>T c.(340-342)tCc>tTc p.S114F DAB1_ENST00000414851.2_Missense_Mutation_p.S114F|DAB1_ENST00000371234.4_Missense_Mutation_p.S114F|DAB1_ENST00000371230.1_Missense_Mutation_p.S114F|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S114F|DAB1_ENST00000371231.1_Missense_Mutation_p.S114F O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 114 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 TGCAATGTAGGATATTTCATG 0.438000 50 20 0 0 0.000781405 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110030320 110030320 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:110030320C>T ENST00000369870.3 + 5 609 c.594C>T c.(592-594)atC>atT p.I198I NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 198 p.I198I(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GAGAGAACATCGAGATCATCC 0.602000 221 204 0 0 0.000781405 0 0 TNR 7143 broad.mit.edu 37 1 175372391 175372391 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:175372391G>A ENST00000367674.1 - 4 1569 c.861C>T c.(859-861)taC>taT p.Y287Y TNR_ENST00000263525.2_Silent_p.Y287Y NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 287 Cys-rich.|EGF-like 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CCTCACCAACGTAGCCCTCCT 0.627000 16 24 0 0 0.00074312 0 0 MICA 100507436 broad.mit.edu 37 6 31378479 31378479 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31378479T>A ENST00000449934.2 + 2 284 c.230T>A c.(229-231)cTg>cAg p.L77Q HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 77 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) GAAGATGTCCTGGGAAATAAG 0.542000 5 11 0 0 0.000602214 0 0 RCOR3 55758 broad.mit.edu 37 1 211487014 211487014 + Silent SNP C C T rs139368264 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:211487014C>T ENST00000367005.4 + 11 1533 c.1392C>T c.(1390-1392)ccC>ccT p.P464P RCOR3_ENST00000419091.2_Silent_p.P522P|RCOR3_ENST00000367006.4_3'UTR|RCOR3_ENST00000526255.1_3'UTR NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 464 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) CCATGCCACCCCGTCTAAACC 0.527000 22 55 0 0 0.00047179 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368548 18368548 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:18368548G>A ENST00000392413.3 - 4 3761 c.3546C>T c.(3544-3546)caC>caT p.H1182H KIAA1683_ENST00000600328.2_Silent_p.H995H|KIAA1683_ENST00000600359.2_Silent_p.H949H NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GCATCTGCCAGTGCCGGGCTT 0.677000 7 20 0 0 0.00198382 0 0 TTN 7273 broad.mit.edu 37 2 179536836 179536836 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179536836G>A ENST00000589042.1 - 155 35313 c.35089C>T c.(35089-35091)Cat>Tat p.H11697Y TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H11323Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H10396Y|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11565 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) TCTACTTCATGAAACTCGCCT 0.343000 20 37 0 0 0.000958276 0 0 A2ML1 144568 broad.mit.edu 37 12 8994114 8994114 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:8994114G>A ENST00000299698.7 + 11 1410 c.1230G>A c.(1228-1230)ggG>ggA p.G410G NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 254 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GTTGGAATGGGACAGACGTTT 0.468000 15 40 0 0 0.000308642 0 0 C12orf49 79794 broad.mit.edu 37 12 117155666 117155666 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117155666G>A ENST00000261318.3 - 5 727 c.567C>T c.(565-567)ccC>ccT p.P189P C12orf49_ENST00000536380.1_Silent_p.P159P|C12orf49_ENST00000548356.1_Silent_p.P30P NM_024738.1 NP_079014.1 Q9H741 CL049_HUMAN chromosome 12 open reading frame 49 189 extracellular region endometrium(1)|lung(1)|ovary(1)|skin(1) 4 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) ACTTTGCTATGGGGTCCCGGT 0.587000 9 16 0 0 0.00185496 0 0 TNR 7143 broad.mit.edu 37 1 175331828 175331828 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:175331828C>T ENST00000367674.1 - 14 3533 c.2825G>A c.(2824-2826)aGc>aAc p.S942N TNR_ENST00000263525.2_Missense_Mutation_p.S942N NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 942 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GATGCGCTCGCTTTCCTCCCT 0.542000 12 44 0 0 0.00185496 0 0 FCRL6 343413 broad.mit.edu 37 1 159777981 159777981 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159777981C>T ENST00000321935.6 + 4 173 c.87C>T c.(85-87)ctC>ctT p.L29L FCRL6_ENST00000339348.5_Silent_p.L22L|FCRL6_ENST00000368106.3_Silent_p.L22L|FCRL6_ENST00000392235.3_Silent_p.L22L Q6DN72 FCRL6_HUMAN Fc receptor-like 6 22 Ig-like C2-type 1. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) GGCTGTACCTCCAAGCCTGGC 0.562000 13 26 0 0 0.000566183 0 0 PLCH2 9651 broad.mit.edu 37 1 2435905 2435905 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:2435905C>T ENST00000419816.2 + 22 3778 c.3504C>T c.(3502-3504)agC>agT p.S1168S PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Silent_p.S1168S|PLCH2_ENST00000378488.3_Silent_p.S1132S|PLCH2_ENST00000449969.1_3'UTR O75038 PLCH2_HUMAN phospholipase C, eta 2 1168 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) TGGGCCGCAGCCGTGAGAACC 0.662000 10 11 0 0 0.00136819 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665797 19665797 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:19665797C>T ENST00000328041.6 + 12 1313 c.1116C>T c.(1114-1116)gcC>gcT p.A372A NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 372 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTGAGGTGGCCATCAAAATCC 0.537000 28 50 0 0 0.00127121 0 0 BAD 572 broad.mit.edu 37 11 64037604 64037604 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64037604G>A ENST00000544785.1 - 2 393 c.393C>T c.(391-393)ttC>ttT p.F131F BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 AGGCCTGAGGGAAGTACTTCC 0.602000 4 8 0 0 0.00024832 0 0 SCN9A 6335 broad.mit.edu 37 2 167168110 167168110 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:167168110A>G ENST00000375387.4 - 2 497 c.157T>C c.(157-159)Ttg>Ctg p.L53L SCN9A_ENST00000303354.6_Silent_p.L53L|SCN9A_ENST00000409435.1_Silent_p.L53L|SCN9A_ENST00000409672.1_Silent_p.L53L Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 53 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) CCAGCTTCCAAGTCACTGCTT 0.483000 40 94 0 0 0.0025221 0 0 WDR35 57539 broad.mit.edu 37 2 20135990 20135990 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:20135990G>A ENST00000345530.3 - 21 2552 c.2437C>T c.(2437-2439)Cga>Tga p.R813* WDR35_ENST00000416055.2_Nonsense_Mutation_p.R378*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.R802* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 813 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) CACTTTTGTCGATCAGCAAAG 0.453000 17 47 0 0 0.000566183 0 0 TACC2 10579 broad.mit.edu 37 10 123845785 123845785 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:123845785C>T ENST00000369005.1 + 4 4110 c.3770C>T c.(3769-3771)tCc>tTc p.S1257F TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S1257F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1257F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1257F|TACC2_ENST00000334433.3_Missense_Mutation_p.S1257F NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1257 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) AAAGCTGTTTCCTCTGCAGAC 0.592000 25 31 0 0 0.000878237 0 0 UMODL1 89766 broad.mit.edu 37 21 43510455 43510455 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43510455G>A ENST00000400427.1 + 6 1018 c.622G>A c.(622-624)Gaa>Aaa p.E208K UMODL1_ENST00000408989.2_Missense_Mutation_p.E280K|UMODL1_ENST00000400424.1_Missense_Mutation_p.E208K|UMODL1_ENST00000408910.2_Missense_Mutation_p.E280K NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 280 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 CTCTGGAAGGGAACTGTGCGC 0.562000 13 51 0 0 0.000422831 0 0 STEAP4 79689 broad.mit.edu 37 7 87912423 87912423 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:87912423G>A ENST00000380079.4 - 3 618 c.517C>T c.(517-519)Ctt>Ttt p.L173F AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 173 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) GTAAGTCCAAGATTACGAACA 0.388000 13 40 0 0 0.00244969 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326802 37326802 + Silent SNP G G A rs138918081 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:37326802G>A ENST00000262825.5 + 8 1177 c.960G>A c.(958-960)gcG>gcA p.A320A CSF2RB_ENST00000403662.3_Silent_p.A314A|CSF2RB_ENST00000406230.1_Silent_p.A320A|CSF2RB_ENST00000536485.1_Silent_p.A261A NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 314 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CCGACCCCGCGACCCACGGCC 0.612000 19 32 0 0 0.00229938 0 0 DIP2B 57609 broad.mit.edu 37 12 51135318 51135318 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:51135318G>A ENST00000301180.5 + 37 4508 c.4474G>A c.(4474-4476)Gaa>Aaa p.E1492K NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1492 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 AAGCATTGCTGAATGGTAACT 0.468000 19 42 0 0 0.00188189 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542422 40542422 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40542422G>A ENST00000434248.1 - 5 409 c.344C>T c.(343-345)gCc>gTc p.A115V ZNF780B_ENST00000221355.6_5'UTR NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAAATAAAAGGCCTCGAGGCC 0.328000 5 21 0 0 0.000602214 0 0 RSPH3 83861 broad.mit.edu 37 6 159398662 159398662 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:159398662G>T ENST00000367069.2 - 8 1801 c.1165C>A c.(1165-1167)Cag>Aag p.Q389K RSPH3_ENST00000449822.1_Missense_Mutation_p.Q293K|RSPH3_ENST00000297262.3_Missense_Mutation_p.Q435K|RSPH3_ENST00000252655.1_Missense_Mutation_p.Q531K Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 531 p.Q531K(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) TTCCTTTCCTGGGATGACCTT 0.473000 8 208 0.000157383 0.000610071 0.000157383 1 0 IL12A 3592 broad.mit.edu 37 3 159713239 159713239 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:159713239G>A ENST00000305579.2 + 7 962 c.655G>A c.(655-657)Gaa>Aaa p.E219K IL12A_ENST00000480787.1_Missense_Mutation_p.E181K|CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Missense_Mutation_p.E205K NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) 185 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTCCCTTGAAGAACCGGATTT 0.383000 29 50 0 0 0.00127121 0 0 HEPH 9843 broad.mit.edu 37 X 65413365 65413365 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:65413365G>A ENST00000519389.1 + 8 1595 c.1416G>A c.(1414-1416)caG>caA p.Q472Q HEPH_ENST00000419594.1_Silent_p.Q421Q|HEPH_ENST00000336279.5_Silent_p.Q151Q|HEPH_ENST00000374727.3_Silent_p.Q421Q|HEPH_ENST00000441993.2_Silent_p.Q421Q|HEPH_ENST00000343002.2_Silent_p.Q418Q Q9BQS7 HEPH_HUMAN hephaestin 418 Plastocyanin-like 3. 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 AGTTTTTCCAGAAGAGCTCCA 0.398000 6 12 0 0 0.000157383 0 0 AP001347.6 0 broad.mit.edu 37 21 15399841 15399841 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:15399841C>T ENST00000428809.1 + 0 100 TTCTGCCACTCCCTCCGTCGC 0.577000 9 21 0 0 0.000274275 0 0 CES5A 221223 broad.mit.edu 37 16 55886868 55886868 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:55886868G>A ENST00000521992.1 - 11 1430 c.1285C>T c.(1285-1287)Cga>Tga p.R429* CES5A_ENST00000319165.9_Nonsense_Mutation_p.R400*|CES5A_ENST00000290567.9_Nonsense_Mutation_p.R400*|CES5A_ENST00000518005.1_Nonsense_Mutation_p.R294*|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Nonsense_Mutation_p.R370* NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 400 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 AGACTGTCTCGGATTTCAGTC 0.478000 28 26 0 0 0.00106085 0 0 PALLD 23022 broad.mit.edu 37 4 169433098 169433098 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:169433098C>T ENST00000261509.6 + 2 654 c.443C>T c.(442-444)cCc>cTc p.P148L PALLD_ENST00000333488.4_Missense_Mutation_p.P25L|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.P148L NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 148 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCAAAAACTCCCAGCACAAAC 0.527000 Pancreatic Cancer, Familial Clustering of 19 47 0 0 0.000958276 0 0 SLC22A9 114571 broad.mit.edu 37 11 63174092 63174092 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:63174092G>A ENST00000279178.3 + 7 1446 c.1197G>A c.(1195-1197)tgG>tgA p.W399* SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 399 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TTGCACCTTGGGCACTGAAAT 0.488000 22 27 0 0 0.00229938 0 0 TTN 7273 broad.mit.edu 37 2 179621344 179621344 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179621344G>A ENST00000589042.1 - 46 11083 c.10859C>T c.(10858-10860)tCc>tTc p.S3620F TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.S3449F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3307 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) TGTGTGGATGGAACTTTGAGA 0.378000 21 45 0 0 0.00152264 0 0 KCNA1 3736 broad.mit.edu 37 12 5021586 5021586 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5021586G>A ENST00000382545.3 + 2 2149 c.1042G>A c.(1042-1044)Gag>Aag p.E348K KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 348 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTACTTTGCCGAGGCGGAAGA 0.537000 36 71 0 0 0.00128727 0 0 EPPK1 83481 broad.mit.edu 37 8 144945056 144945056 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144945056G>A ENST00000525985.1 - 2 2437 c.2366C>T c.(2365-2367)cCc>cTc p.P789L P58107 EPIPL_HUMAN epiplakin 1 789 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) GCCCGTCTCGGGGTCACGCAC 0.627000 9 24 0 0 0.000442599 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678171 66678171 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:66678171G>A ENST00000360242.5 + 7 1381 c.1263_splice c.e7-1 p.E422_splice CCDC102B_ENST00000319445.6_Splice_Site_p.E422_splice|CCDC102B_ENST00000584156.1_Splice_Site_p.E422_splice NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 422 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) CCTTTGAAAGGAATTACTGAA 0.318000 4 24 0 0 0.00024832 0 0 TTYH2 94015 broad.mit.edu 37 17 72249964 72249964 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:72249964C>T ENST00000441391.2 + 7 1765 c.553C>T c.(553-555)Ccg>Tcg p.P185S TTYH2_ENST00000269346.4_Missense_Mutation_p.P506S|TTYH2_ENST00000529107.1_Missense_Mutation_p.P485S NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 506 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 AGCCTCCCCTCCGCCTACGGT 0.552000 38 41 0 0 0.000814825 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505221 37505221 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37505221G>A ENST00000374660.1 + 38 3270 c.3171G>A c.(3169-3171)aaG>aaA p.K1057K ANKRD30A_ENST00000361713.1_Silent_p.K938K|ANKRD30A_ENST00000602533.1_Silent_p.K938K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1060 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATGAAAAAGAAGTTTTGTG 0.338000 22 64 0 0 0.00278032 0 0 PRDM14 63978 broad.mit.edu 37 8 70978470 70978470 + Splice_Site SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:70978470C>A ENST00000276594.2 - 5 1384 c.1183_splice c.e5+1 p.E395_splice NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GTGCACTCACCTTCAGAGGGC 0.557000 20 38 8.28177e-16 3.23698e-15 0.000958276 1 0 OR2M5 127059 broad.mit.edu 37 1 248308964 248308964 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248308964G>A ENST00000366476.1 + 1 515 c.515G>A c.(514-516)cGg>cAg p.R172Q NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TGTGGGTCTCGGGAAATAGCC 0.428000 74 195 0 0 0.000781405 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42279469 42279469 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:42279469G>A ENST00000399518.3 - 17 2422 c.1936C>T c.(1936-1938)Ctt>Ttt p.L646F PLA2G4E_ENST00000413860.2_Missense_Mutation_p.L617F|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 634 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CGATGGGTAAGGATTTCTCGG 0.527000 17 9 0 0 0.000566183 0 0 CHST9 83539 broad.mit.edu 37 18 24496881 24496881 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:24496881G>A ENST00000284224.8 - 6 951 c.674C>T c.(673-675)tCc>tTc p.S225F CHST9_ENST00000581714.1_Missense_Mutation_p.S225F|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 225 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) TTTCCAATTGGAACAGCCAGC 0.393000 30 46 0 0 0.00106085 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142539863 142539863 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:142539863G>A ENST00000295992.3 - 8 1280 c.974C>T c.(973-975)aCc>aTc p.T325I PCOLCE2_ENST00000485766.1_Silent_p.N245N NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 325 NTR. 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 GCGAGTGATGGTTGTGATAAC 0.453000 22 34 0 0 0.000720815 0 0 GRM4 2914 broad.mit.edu 37 6 34008079 34008079 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:34008079T>C ENST00000374181.3 - 7 1551 c.1382A>G c.(1381-1383)aAc>aGc p.N461S GRM4_ENST00000455714.2_Missense_Mutation_p.N321S|GRM4_ENST00000535756.1_Missense_Mutation_p.N328S|GRM4_ENST00000544773.1_Missense_Mutation_p.N292S|GRM4_ENST00000538487.1_Missense_Mutation_p.N461S|GRM4_ENST00000545715.1_Missense_Mutation_p.N153S|GRM4_ENST00000374177.3_Missense_Mutation_p.N345S NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 461 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGTCACAGGGTTCCCTGCGAT 0.577000 24 91 0 0 0.000586117 0 0 PHC3 80012 broad.mit.edu 37 3 169846476 169846476 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169846476G>A ENST00000494943.1 - 8 1816 c.1748C>T c.(1747-1749)cCa>cTa p.P583L PHC3_ENST00000467570.1_Missense_Mutation_p.P542L|PHC3_ENST00000495893.1_Missense_Mutation_p.P595L Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 583 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655) GCTTACCACTGGTGGATCAAC 0.448000 20 19 0 0 0.00188189 0 0 TMEM119 338773 broad.mit.edu 37 12 108985675 108985675 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:108985675G>A ENST00000392806.3 - 2 653 c.485C>T c.(484-486)cCc>cTc p.P162L NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 162 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GGCTTCCTCGGGCCTGCTGTC 0.692000 8 14 0 0 0.000978159 0 0 PPP1CB 5500 broad.mit.edu 37 2 29006808 29006808 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:29006808C>T ENST00000395366.2 + 5 828 c.556C>T c.(556-558)Cgg>Tgg p.R186W PPP1CB_ENST00000296122.6_Missense_Mutation_p.R186W|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Missense_Mutation_p.R186W NM_002709.2 NP_002700.1 P62140 PP1B_HUMAN protein phosphatase 1, catalytic subunit, beta isozyme 186 cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GGAGCAGATTCGGAGAATTAT 0.328000 27 36 0 0 0.00058488 0 0 KRT40 125115 broad.mit.edu 37 17 39138607 39138607 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39138607C>T ENST00000377755.4 - 3 673 c.639G>A c.(637-639)gtG>gtA p.V213V KRT40_ENST00000398486.2_Silent_p.V213V Q6A162 K1C40_HUMAN keratin 40 213 Coil 1B.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) TCAGAGACTCCACATGGGCCT 0.507000 19 66 0 0 0.00074312 0 0 GP6 51206 broad.mit.edu 37 19 55525974 55525974 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55525974G>A ENST00000310373.3 - 8 1366 c.1339C>T c.(1339-1341)Cta>Tta p.L447L CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 65 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GCCCATATTAGAGAGGTTGAA 0.542000 27 81 0 0 0.00283554 0 0 ZNF221 7638 broad.mit.edu 37 19 44471131 44471131 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44471131C>T ENST00000251269.5 + 6 1805 c.1477C>T c.(1477-1479)Ctt>Ttt p.L493F ZNF221_ENST00000587682.1_Missense_Mutation_p.L493F|ZNF221_ENST00000592350.1_Missense_Mutation_p.L493F NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GGCCTCCTGTCTTTTGAAACA 0.453000 20 46 0 0 0.00229938 0 0 EPS8L2 64787 broad.mit.edu 37 11 723296 723296 + Missense_Mutation SNP C C T rs142895363 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:723296C>T ENST00000533256.1 + 16 1772 c.1397C>T c.(1396-1398)tCa>tTa p.S466L AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.S482L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.S466L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.S466L Q9H6S3 ES8L2_HUMAN EPS8-like 2 466 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGCCCCACTTCAGAGCCCACC 0.602000 OREG0020659 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 31 0 0 0.000422831 0 0 SPOCD1 90853 broad.mit.edu 37 1 32265028 32265028 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:32265028A>G ENST00000360482.2 - 7 1971 c.1842T>C c.(1840-1842)cgT>cgC p.R614R SPOCD1_ENST00000533231.1_Silent_p.R614R|SPOCD1_ENST00000257100.3_Silent_p.R107R|SPOCD1_ENST00000373648.2_Intron NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 614 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCTGCATGGAACGGACAACAG 0.652000 4 16 0 0 0.000157383 0 0 SMYD3 64754 broad.mit.edu 37 1 246078853 246078853 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:246078853G>A ENST00000490107.1 - 8 831 c.615C>T c.(613-615)ttC>ttT p.F205F SMYD3_ENST00000388985.4_Silent_p.F264F|SMYD3_ENST00000541742.1_Silent_p.F205F|SMYD3_ENST00000366517.1_5'UTR NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 264 S-adenosyl-L-methionine binding.|SET. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TTTGGCAACGGAAACAGTCAC 0.498000 19 57 0 0 0.00121646 0 0 DSG4 147409 broad.mit.edu 37 18 28991307 28991307 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:28991307G>A ENST00000359747.4 + 14 2337 c.2308G>A c.(2308-2310)Gga>Aga p.G770R RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G751R|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 751 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) aggggccgcaggagcctcagg 0.622000 20 32 0 0 0.00188189 0 0 PTGS1 5742 broad.mit.edu 37 9 125148901 125148901 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125148901G>A ENST00000362012.2 + 9 1191 c.1186G>A c.(1186-1188)Gtg>Atg p.V396M PTGS1_ENST00000540753.1_Splice_Site|PTGS1_ENST00000373698.5_Missense_Mutation_p.V287M|PTGS1_ENST00000223423.4_Splice_Site|AL162424.1_ENST00000600713.1_Intron 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) 396 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) CTCCTTCAAGGTGGGCTCCCA 0.557000 36 130 0 0 0.000814825 0 0 ST18 9705 broad.mit.edu 37 8 53074052 53074052 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:53074052C>T ENST00000276480.7 - 14 2160 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 493 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTCTCTTGTTCTTTTGACACT 0.448000 32 65 0 0 0.00283554 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069353 114069353 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:114069353G>A ENST00000462705.1 - 11 2174 c.1353C>T c.(1351-1353)ttC>ttT p.F451F ZBTB20_ENST00000481632.1_Silent_p.F451F|ZBTB20_ENST00000393785.2_Silent_p.F451F|ZBTB20_ENST00000474710.1_Silent_p.F524F|ZBTB20_ENST00000357258.3_Silent_p.F451F|ZBTB20_ENST00000471418.1_Silent_p.F451F|ZBTB20_ENST00000464560.1_Silent_p.F451F NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGCTGAAGAGGAAAGGCTTGG 0.632000 16 43 0 0 0.000566183 0 0 CWH43 80157 broad.mit.edu 37 4 48996765 48996765 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:48996765G>A ENST00000226432.4 + 5 824 c.641G>A c.(640-642)gGa>gAa p.G214E CWH43_ENST00000513409.1_Missense_Mutation_p.G187E NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 214 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGGGTTTTTGGAGAAGTCTCT 0.542000 27 72 0 0 0.00209593 0 0 UXT 8409 broad.mit.edu 37 X 47516985 47516985 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:47516985G>A ENST00000335890.2 - 3 423 c.270C>T c.(268-270)ttC>ttT p.F90F UXT_ENST00000333119.3_Silent_p.F78F NM_153477.2 NP_705582.1 Q9UBK9 UXT_HUMAN ubiquitously-expressed, prefoldin-like chaperone 78 centrosome organization|mitochondrion transport along microtubule|protein folding centrosome|nucleus|prefoldin complex beta-tubulin binding|microtubule binding|unfolded protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1) 6 CTGTGTCAACGAAGAAGTTAC 0.488000 6 2 0 0 0.000274275 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027858 150027858 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:150027858C>T ENST00000343855.4 + 1 921 c.365C>T c.(364-366)cCc>cTc p.P122L LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like TCCCCAAGTCCCCTGCAAAGC 0.607000 13 29 0 0 0.000308642 0 0 CNGB3 54714 broad.mit.edu 37 8 87738817 87738817 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:87738817G>A ENST00000320005.5 - 3 327 c.280C>T c.(280-282)Cca>Tca p.P94S CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 94 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GTTCCAGTTGGTTCTGCTGCA 0.398000 97 191 0 0 0.000781405 0 0 TBC1D1 23216 broad.mit.edu 37 4 38051416 38051416 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38051416G>A ENST00000261439.4 + 11 2162 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K TBC1D1_ENST00000508802.1_Missense_Mutation_p.E603K NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 603 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CTTCCCCATCGAATGCCAGGA 0.597000 33 64 0 0 0.000692331 0 0 GABRA1 2554 broad.mit.edu 37 5 161281227 161281227 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:161281227G>A ENST00000428797.2 + 4 493 c.138G>A c.(136-138)ttG>ttA p.L46L GABRA1_ENST00000437025.2_Silent_p.L46L|GABRA1_ENST00000393943.4_Silent_p.L46L|GABRA1_ENST00000444819.1_Silent_p.L46L|GABRA1_ENST00000023897.6_Silent_p.L46L|GABRA1_ENST00000420560.1_Silent_p.L46L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 46 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 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) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCAGGATTTTGGACAGACTCC 0.363000 35 95 0 0 0.00128727 0 0 KCNH7 90134 broad.mit.edu 37 2 163302565 163302565 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:163302565G>A ENST00000332142.5 - 7 1616 c.1517C>T c.(1516-1518)cCt>cTt p.P506L KCNH7_ENST00000328032.4_Missense_Mutation_p.P499L NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 506 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) CAAGTCAAAAGGAATTGCTGC 0.348000 8 33 0 0 0.000274275 0 0 NME8 51314 broad.mit.edu 37 7 37934091 37934091 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:37934091G>A ENST00000199447.4 + 16 1795 c.1423G>A c.(1423-1425)Gag>Aag p.E475K NME8_ENST00000440017.1_Missense_Mutation_p.E475K|EPDR1_ENST00000476620.1_Intron NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 475 NDK 3. 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 GATAGTTAAGGAGGCTGGATT 0.328000 33 58 0 0 0.000692331 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900186 4900186 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:4900186G>A ENST00000404991.1 - 1 1439 c.1253C>T c.(1252-1254)cCa>cTa p.P418L RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 418 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAATGACTGTGGATTCACATG 0.403000 86 181 0 0 0.000781405 0 0 C20orf194 25943 broad.mit.edu 37 20 3297412 3297412 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3297412G>A ENST00000252032.9 - 18 1564 c.1497C>T c.(1495-1497)tcC>tcT p.S499S C20orf194_ENST00000453730.2_Silent_p.S237S NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 499 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TCAGGACTACGGAGCTGGTTT 0.537000 12 33 0 0 0.000566183 0 0 PCSK5 5125 broad.mit.edu 37 9 78808173 78808173 + Missense_Mutation SNP G G A rs148131474 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:78808173G>A ENST00000376752.4 + 21 3124 c.2647G>A c.(2647-2649)Gaa>Aaa p.E883K PCSK5_ENST00000545128.1_Intron NM_006200.3 NP_006191.2 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 883 PLAC. 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 GTCCTGGGCGGAAGGAGGCTT 0.468000 4 40 0 0 0.000602214 0 0 ZNF560 147741 broad.mit.edu 37 19 9577554 9577554 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9577554C>T ENST00000301480.4 - 10 2282 c.2069G>A c.(2068-2070)gGa>gAa p.G690E NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 690 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AAAGGAATTTCCACATGCGTT 0.373000 47 103 0 0 0.000781405 0 0 ARMC8 25852 broad.mit.edu 37 3 137956154 137956154 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:137956154C>T ENST00000469044.1 + 8 884 c.613C>T c.(613-615)Cga>Tga p.R205* ARMC8_ENST00000481646.1_Nonsense_Mutation_p.R191*|ARMC8_ENST00000461822.1_Nonsense_Mutation_p.R205*|ARMC8_ENST00000471453.1_Nonsense_Mutation_p.R191*|ARMC8_ENST00000538260.1_Nonsense_Mutation_p.R174*|ARMC8_ENST00000491704.1_Nonsense_Mutation_p.R163*|ARMC8_ENST00000489213.1_Nonsense_Mutation_p.R163*|ARMC8_ENST00000393058.3_Nonsense_Mutation_p.R195*|ARMC8_ENST00000470821.1_Nonsense_Mutation_p.R205*|ARMC8_ENST00000358441.2_Nonsense_Mutation_p.R191*|ARMC8_ENST00000485396.1_Nonsense_Mutation_p.R132* NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 205 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 TTTACAGGTTCGAATGCAAGC 0.343000 111 292 0 0 0.000781405 0 0 POMC 5443 broad.mit.edu 37 2 25384144 25384144 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25384144C>T ENST00000405623.1 - 3 1065 c.610G>A c.(610-612)Gac>Aac p.D204N POMC_ENST00000380794.1_Missense_Mutation_p.D204N|POMC_ENST00000264708.3_Missense_Mutation_p.D204N|POMC_ENST00000395826.2_Missense_Mutation_p.D204N P01189 COLI_HUMAN proopiomelanocortin 204 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding p.D204N(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TGCTCCAGGTCGGCCTGGGCC 0.701000 4 8 0 0 0.000602214 0 0 CIC 23152 broad.mit.edu 37 19 42794781 42794781 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:42794781C>T ENST00000572681.2 + 11 4656 c.4588C>T c.(4588-4590)Ccc>Tcc p.P1530S CIC_ENST00000575354.2_Missense_Mutation_p.P621S|CIC_ENST00000160740.3_Missense_Mutation_p.P621S Q96RK0 CIC_HUMAN capicua transcriptional repressor 621 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGCGGCCCCTCCCAGCGGAGG 0.672000 """Mis, F, S""" oligodendroglioma 32 43 0 0 0.0024448 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767828 77767828 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77767828G>A ENST00000521891.2 + 10 9119 c.8671G>A c.(8671-8673)Gac>Aac p.D2891N ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2846N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2846N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2865N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2846 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCACAGATGACCCGGATGA 0.493000 HNSCC(33;0.089) 11 41 0 0 0.00136819 0 0 ADCY8 114 broad.mit.edu 37 8 131921957 131921957 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131921957G>A ENST00000286355.5 - 6 3729 c.1637C>T c.(1636-1638)cCt>cTt p.P546L ADCY8_ENST00000377928.3_Missense_Mutation_p.P546L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 546 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 p.P546H(1) 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) ATCTTACCCAGGGATTCCTCC 0.453000 HNSCC(32;0.087) 48 115 0 0 0.000781405 0 0 SETBP1 26040 broad.mit.edu 37 18 42531846 42531846 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:42531846C>T ENST00000282030.5 + 4 2837 c.2541C>T c.(2539-2541)tcC>tcT p.S847S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 847 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) AGATTGGCTCCCTAAAGGAAA 0.552000 Schinzel-Giedion syndrome 16 30 0 0 0.000422831 0 0 SCN8A 6334 broad.mit.edu 37 12 52200418 52200418 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52200418C>T ENST00000354534.5 + 27 5326 c.5148C>T c.(5146-5148)aaC>aaT p.N1716N SCN8A_ENST00000545061.1_Silent_p.N1675N NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1716 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCATCCTAAACCGCCCCCCTG 0.507000 16 40 0 0 0.000308642 0 0 SEC16B 89866 broad.mit.edu 37 1 177911164 177911164 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:177911164G>A ENST00000308284.6 - 16 1982 c.1893C>T c.(1891-1893)ctC>ctT p.L631L 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) 631 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 AAGCATAAAGGAGCTTATACA 0.498000 5 13 0 0 0.000602214 0 0 MROH2B 133558 broad.mit.edu 37 5 41015527 41015527 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41015527C>T ENST00000399564.4 - 29 3388 c.2938G>A c.(2938-2940)Gat>Aat p.D980N MROH2B_ENST00000506092.2_Missense_Mutation_p.D535N NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGCACGTCATCACTTTCCAGC 0.393000 27 41 0 0 0.00178596 0 0 XRN1 54464 broad.mit.edu 37 3 142083988 142083988 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:142083988G>A ENST00000264951.4 - 29 3412 c.3295C>T c.(3295-3297)Cgg>Tgg p.R1099W XRN1_ENST00000392981.2_Missense_Mutation_p.R1099W NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 1099 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TCTGCATCCCGATCAGGAATG 0.358000 19 28 0 0 0.000586117 0 0 DNAH17 8632 broad.mit.edu 37 17 76503578 76503578 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76503578C>T ENST00000389840.5 - 28 4658 c.4534G>A c.(4534-4536)Gac>Aac p.D1512N DNAH17_ENST00000585328.1_Missense_Mutation_p.D1513N 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) CGCTGGGAGTCCCCCGGGAGC 0.582000 20 19 0 0 0.00229938 0 0 DPYD 1806 broad.mit.edu 37 1 98205983 98205983 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:98205983C>T ENST00000370192.3 - 4 386 c.286G>A c.(286-288)Gat>Aat p.D96N DPYD_ENST00000306031.5_Missense_Mutation_p.D96N|DPYD_ENST00000423006.2_Missense_Mutation_p.D59N NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 96 4Fe-4S ferredoxin-type 1. '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) GATTTAATATCAAGATTAGTT 0.323000 64 119 0 0 0.000781405 0 0 MRM1 79922 broad.mit.edu 37 17 34964773 34964773 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:34964773C>T ENST00000250156.7 + 5 1223 c.984C>T c.(982-984)gcC>gcT p.A328A MRM1_ENST00000585770.1_Silent_p.A133A NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 328 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) AACCCTCAGCCAGGTCTGAAG 0.567000 49 63 0 0 0.000781405 0 0 TNXB 7148 broad.mit.edu 37 6 32041670 32041670 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32041670C>T ENST00000375244.3 - 12 4636 c.4435G>A c.(4435-4437)Gag>Aag p.E1479K TNXB_ENST00000375247.2_Missense_Mutation_p.E1479K P22105 TENX_HUMAN tenascin XB 1566 Fibronectin type-III 7. 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 ACTGTCAGCTCTCCTAGGCGT 0.582000 101 316 0 0 0.000781405 0 0 BTBD11 121551 broad.mit.edu 37 12 108006557 108006557 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:108006557G>A ENST00000280758.5 + 6 2338 c.1809_splice c.e6-1 p.G604_splice BTBD11_ENST00000357167.4_Splice_Site_p.G141_splice|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Splice_Site_p.G604_splice|BTBD11_ENST00000490090.2_Splice_Site_p.G604_splice NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 604 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CTCACCACAGGGCATGACTCC 0.522000 5 10 0 0 0.00198382 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735042 41735042 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:41735042C>T ENST00000352645.4 + 9 920 c.663C>T c.(661-663)ctC>ctT p.L221L ZC3H7B_ENST00000351589.4_Silent_p.L221L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 237 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CAGCCCTTCTCCCCTCCACGC 0.677000 36 88 0 0 0.00222228 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33400470 33400470 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33400470C>T ENST00000418600.2 + 5 497 c.396C>T c.(394-396)ttC>ttT p.F132F SYNGAP1_ENST00000293748.5_Silent_p.F132F|SYNGAP1_ENST00000428982.2_Silent_p.F73F|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 132 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 AGCAAGGCTTCCTGAGCCGAC 0.577000 4 20 0 0 0.00024832 0 0 KRT1 3848 broad.mit.edu 37 12 53069117 53069117 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53069117A>T ENST00000252244.3 - 9 1853 c.1795T>A c.(1795-1797)Tct>Act p.S599T NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 599 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CGgccgccagagctgccgccg 0.711000 10 11 0 0 0.00185496 0 0 KIRREL 55243 broad.mit.edu 37 1 158059514 158059514 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158059514C>T ENST00000368172.1 + 6 632 c.620C>T c.(619-621)cCc>cTc p.P207L KIRREL_ENST00000368173.3_Missense_Mutation_p.P409L|KIRREL_ENST00000360089.4_Missense_Mutation_p.P229L|KIRREL_ENST00000392272.2_Missense_Mutation_p.P290L|KIRREL_ENST00000416935.2_Missense_Mutation_p.P293L|KIRREL_ENST00000359209.6_Missense_Mutation_p.P393L Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 393 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCAGGGCCCCCCATCATCTCC 0.587000 24 48 0 0 0.00106085 0 0 RGAG1 57529 broad.mit.edu 37 X 109696331 109696331 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:109696331G>A ENST00000465301.2 + 3 2732 c.2486G>A c.(2485-2487)gGa>gAa p.G829E RGAG1_ENST00000540313.1_Missense_Mutation_p.G829E NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 829 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ACAGCCTCTGGAATGATGTCA 0.537000 66 31 0 0 0.000781405 0 0 ACKR3 57007 broad.mit.edu 37 2 237489411 237489411 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:237489411G>A ENST00000272928.3 + 2 613 c.303G>A c.(301-303)gtG>gtA p.V101V NM_020311.2 NP_064707.1 atypical chemokine receptor 3 CAGTCTGGGTGGTCAGTCTCG 0.552000 22 58 0 0 0.00047179 0 0 LAMB3 3914 broad.mit.edu 37 1 209806442 209806442 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209806442G>A ENST00000391911.1 - 6 990 c.601C>T c.(601-603)Cca>Tca p.P201S LAMB3_ENST00000356082.4_Missense_Mutation_p.P201S|LAMB3_ENST00000367030.3_Missense_Mutation_p.P201S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 201 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TGAGTTGCTGGAATCCCAGAC 0.463000 24 39 0 0 0.00127121 0 0 GPC6 10082 broad.mit.edu 37 13 93879809 93879809 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:93879809C>T ENST00000377047.4 + 1 715 c.100C>T c.(100-102)Cgc>Tgc p.R34C NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 34 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CGGAGAGGTCCGCCAGGCGTA 0.682000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 15 0 0 0.000274275 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214775 3214775 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3214775G>A ENST00000380059.3 - 5 707 c.606C>T c.(604-606)ctC>ctT p.L202L SLC4A11_ENST00000380056.3_Silent_p.L175L|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.L159L NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 175 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCATGGCCATGAGCAGGTCCA 0.667000 23 40 0 0 0.000586117 0 0 DSP 1832 broad.mit.edu 37 6 7569517 7569517 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7569517C>T ENST00000379802.3 + 12 1859 c.1518C>T c.(1516-1518)ccC>ccT p.P506P DSP_ENST00000418664.2_Silent_p.P506P NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 506 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCTTGTTCCCTCTGTGGGGC 0.557000 22 76 0 0 0.00152264 0 0 MTMR4 9110 broad.mit.edu 37 17 56581792 56581792 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:56581792G>A ENST00000323456.5 - 13 1481 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C MTMR4_ENST00000579925.1_Missense_Mutation_p.R453C NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 453 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGGCCACAGCGATCTCCAAAC 0.483000 24 85 0 0 0.000720815 0 0 H1FOO 132243 broad.mit.edu 37 3 129267891 129267891 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:129267891C>T ENST00000324382.2 + 3 431 c.426C>T c.(424-426)ccC>ccT p.P142P H1FOO_ENST00000503977.1_Silent_p.P3P NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 142 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 AGATGGCCCCCGCGACGGCTC 0.617000 10 9 0 0 0.00136819 0 0 TRBV9 28586 broad.mit.edu 37 7 142240017 142240017 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142240017G>A ENST00000390363.2 - 0 41 CCCATGGCAGGATCTCCTAGC 0.517000 11 43 0 0 0.000673444 0 0 SHISA4 149345 broad.mit.edu 37 1 201860616 201860616 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:201860616C>T ENST00000362011.6 + 4 754 c.467C>T c.(466-468)cCt>cTt p.P156L SHISA4_ENST00000464117.1_3'UTR NM_198149.2 NP_937792.2 Q96DD7 SHSA4_HUMAN shisa family member 4 156 Pro-rich. integral to membrane kidney(1)|lung(4) 5 CCCCCACAGCCTGGCTTCATA 0.587000 21 52 0 0 0.00229938 0 0 INPP5D 3635 broad.mit.edu 37 2 234079226 234079226 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234079226G>A ENST00000359570.5 + 18 1840 c.1840G>A c.(1840-1842)Gag>Aag p.E614K INPP5D_ENST00000450745.1_Missense_Mutation_p.E378K|INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.E378K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 626 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGAGAGGAGGGAGCAGAAGGT 0.582000 14 27 0 0 0.000422831 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194976 18194976 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:18194976G>A ENST00000314254.3 + 1 593 c.173G>A c.(172-174)aGg>aAg p.R58K RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 58 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CGCATGCGCAGGAACGCTGTC 0.542000 18 47 0 0 0.00121646 0 0 USP28 57646 broad.mit.edu 37 11 113672276 113672276 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:113672276G>A ENST00000003302.4 - 24 3055 c.2987C>T c.(2986-2988)tCc>tTc p.S996F USP28_ENST00000544967.1_Missense_Mutation_p.S672F|USP28_ENST00000545540.1_Missense_Mutation_p.S839F|USP28_ENST00000260188.5_Missense_Mutation_p.S964F NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 996 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ATCATCCTTGGAAATGTCATT 0.388000 18 23 0 0 0.00152264 0 0 PRKG2 5593 broad.mit.edu 37 4 82125774 82125774 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:82125774G>A ENST00000395578.1 - 2 544 c.428C>T c.(427-429)tCc>tTc p.S143F PRKG2_ENST00000264399.1_Missense_Mutation_p.S143F|PRKG2_ENST00000418486.2_Missense_Mutation_p.S143F Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 143 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TTTCTCAAAGGAAAATTCAGG 0.453000 106 288 0 0 0.000781405 0 0 SLC25A17 10478 broad.mit.edu 37 22 41175070 41175070 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:41175070G>A ENST00000402844.3 - 1 1128 c.148C>T c.(148-150)Caa>Taa p.Q50* SLC25A17_ENST00000542412.1_Nonsense_Mutation_p.Q59*|SLC25A17_ENST00000544408.1_Nonsense_Mutation_p.Q95*|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000435456.2_Nonsense_Mutation_p.Q132* O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 132 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 TTTGCTCCTTGAAGCTTCAGT 0.383000 18 12 0 0 0.000958276 0 0 PCK2 5106 broad.mit.edu 37 14 24567503 24567503 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:24567503C>T ENST00000216780.4 + 3 635 c.367C>T c.(367-369)Ccg>Tcg p.P123S PCK2_ENST00000396973.4_Missense_Mutation_p.P123S|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.P135S|PCK2_ENST00000561286.1_5'UTR|NRL_ENST00000561028.1_Intron NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 123 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GGTACAACTCCCGCCTGGTGG 0.617000 7 10 0 0 0.000157383 0 0 BRIP1 83990 broad.mit.edu 37 17 59770874 59770874 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:59770874C>T ENST00000259008.2 - 18 2760 c.e18-1 BRIP1_ENST00000577598.1_Splice_Site NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TCTAATACATCTAGAAAAAAT 0.343000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 83 70 0 0 0.000781405 0 0 OR14J1 442191 broad.mit.edu 37 6 29275144 29275144 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29275144C>T ENST00000377160.2 + 1 742 c.678C>T c.(676-678)atC>atT p.I226I NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TGCTGAGAATCCCATCAGCTG 0.488000 43 166 0 0 0.00285205 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841861 8841861 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8841861C>T ENST00000324060.2 + 1 546 c.471C>T c.(469-471)tcC>tcT p.S157S NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCAACGCCTCCATCCAGACCT 0.557000 33 75 0 0 0.000953801 0 0 MEF2B 100271849 broad.mit.edu 37 19 19257591 19257591 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:19257591G>A ENST00000602424.2 - 8 1361 c.635C>T c.(634-636)cCt>cTt p.P212L MEF2B_ENST00000409224.1_Missense_Mutation_p.P215L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P212L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P212L|MEF2B_ENST00000162023.5_Missense_Mutation_p.P212L|MEF2B_ENST00000409447.2_Intron|MEF2B_ENST00000424583.2_Missense_Mutation_p.P212L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P229L NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) CAGGCCACCAGGCAGGTCTGA 0.677000 7 26 0 0 0.000157383 0 0 DCHS2 54798 broad.mit.edu 37 4 155242369 155242369 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:155242369G>A ENST00000357232.3 - 14 2816 c.2817C>T c.(2815-2817)atC>atT p.I939I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 939 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) TGGATAGTGGGATCACCTGAA 0.284000 21 24 0 0 0.00047179 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012041 160012041 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:160012041C>T ENST00000368089.3 - 2 508 c.282G>A c.(280-282)ggG>ggA p.G94G KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 94 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAGCAGGTCCCCATGTGCCA 0.582000 24 37 0 0 0.000720815 0 0 C12orf77 196415 broad.mit.edu 37 12 25148921 25148921 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:25148921C>T ENST00000549828.1 - 3 431 c.227G>A c.(226-228)cGa>cAa p.R76Q C12orf77_ENST00000434912.3_Missense_Mutation_p.R21Q|C12orf77_ENST00000549262.1_Missense_Mutation_p.R21Q NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 76 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 AGGCATCCATCGTATGCTGTC 0.502000 5 20 0 0 0.000602214 0 0 SLC6A5 9152 broad.mit.edu 37 11 20648311 20648311 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:20648311G>A ENST00000525748.1 + 8 1591 c.1318G>A c.(1318-1320)Gga>Aga p.G440R NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 440 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) CCTCATCCGAGGAGTCACCCT 0.552000 28 37 0 0 0.00127121 0 0 OR2C1 4993 broad.mit.edu 37 16 3405993 3405993 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:3405993C>T ENST00000304936.2 + 1 105 c.53C>T c.(52-54)tCa>tTa p.S18L NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATGGGCATATCAGACCATCCC 0.478000 20 48 0 0 0.000586117 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050173 84050173 + Silent SNP G G A rs113073498 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:84050173G>A ENST00000299709.3 - 8 1112 c.1113C>T c.(1111-1113)atC>atT p.I371I NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 371 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 TGATGCTGACGATCTCGCTGA 0.592000 15 27 0 0 0.00074312 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882449 228882449 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:228882449C>T ENST00000392056.3 - 7 3167 c.3121G>A c.(3121-3123)Gaa>Aaa p.E1041K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1041K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1041 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) GCTGCCACTTCATTGGCAAAA 0.512000 24 70 0 0 0.000720815 0 0 CNTN5 53942 broad.mit.edu 37 11 99827575 99827575 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:99827575C>T ENST00000524871.1 + 8 1001 c.711C>T c.(709-711)tcC>tcT p.S237S CNTN5_ENST00000418526.2_Silent_p.S163S|CNTN5_ENST00000528682.1_Silent_p.S237S|CNTN5_ENST00000527185.1_Silent_p.S237S|CNTN5_ENST00000279463.3_Silent_p.S237S NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 237 Ig-like C2-type 2. 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) AGTTCCCTTCCTTTGTGGCGG 0.403000 19 26 0 0 0.00278032 0 0 TKTL2 84076 broad.mit.edu 37 4 164393571 164393571 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:164393571G>A ENST00000280605.3 - 1 1476 c.1316C>T c.(1315-1317)gCc>gTc p.A439V NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 439 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) TCGGAACATGGCTAGATCCTC 0.483000 25 59 0 0 0.000878237 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215029 140215029 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140215029C>T ENST00000525929.1 + 1 1061 c.1061C>T c.(1060-1062)tCc>tTc p.S354F PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S354F|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCTCACTTCCCTGTCTCTC 0.502000 41 70 0 0 0.00285205 0 0 LEPREL1 55214 broad.mit.edu 37 3 189690747 189690747 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:189690747G>A ENST00000319332.5 - 11 1812 c.1615C>T c.(1615-1617)Cga>Tga p.R539* LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R358* NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 539 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ACAATCCTTCGAGCCTTTTCG 0.413000 11 31 0 0 0.00136819 0 0 SIRPG 55423 broad.mit.edu 37 20 1616917 1616917 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:1616917G>A ENST00000381580.1 - 3 745 c.566C>T c.(565-567)tCt>tTt p.S189F SIRPG_ENST00000303415.3_Missense_Mutation_p.S222F|SIRPG_ENST00000216927.4_Missense_Mutation_p.S222F|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.S222F Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 222 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GATGACCTGAGAGCGAACGTC 0.617000 17 37 0 0 0.00074312 0 0 RAI2 10742 broad.mit.edu 37 X 17819392 17819392 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:17819392G>A ENST00000545871.1 - 3 1199 c.739C>T c.(739-741)Ccc>Tcc p.P247S RAI2_ENST00000451717.1_Missense_Mutation_p.P247S|RAI2_ENST00000415486.3_Missense_Mutation_p.P197S|RAI2_ENST00000360011.1_Missense_Mutation_p.P247S|RAI2_ENST00000331511.1_Missense_Mutation_p.P247S NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 247 Pro-rich. embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ATGGGGATGGGAATAGGGACT 0.587000 27 12 0 0 0.00106085 0 0 PET112 5188 broad.mit.edu 37 4 152637244 152637244 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:152637244G>A ENST00000263985.6 - 5 720 c.680C>T c.(679-681)tCc>tTc p.S227F PET112_ENST00000515812.1_Intron|PET112_ENST00000512306.1_Missense_Mutation_p.S227F NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 227 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCTCCACAGGACATGTCGGG 0.577000 8 21 0 0 0.000442599 0 0 ACOT11 26027 broad.mit.edu 37 1 55063089 55063089 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:55063089G>A ENST00000371316.3 + 7 846 c.e7+1 ACOT11_ENST00000343744.2_Splice_Site|ACOT11_ENST00000481208.1_Splice_Site NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 TTGCAGCCAGGTGAGGGCAGG 0.632000 4 8 0 0 0.000602214 0 0 EPHA6 285220 broad.mit.edu 37 3 96962974 96962974 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:96962974C>T ENST00000389672.5 + 5 1487 c.1449C>T c.(1447-1449)atC>atT p.I483I EPHA6_ENST00000470610.2_Silent_p.I483I NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 388 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TCCGCTTCATCCCAAGACATA 0.443000 12 43 0 0 0.00185496 0 0 GOLGA3 2802 broad.mit.edu 37 12 133393269 133393269 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:133393269G>A ENST00000204726.3 - 3 821 c.263C>T c.(262-264)cCa>cTa p.P88L GOLGA3_ENST00000456883.2_Missense_Mutation_p.P88L|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P88L|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P88L|GOLGA3_ENST00000545875.1_Missense_Mutation_p.P88L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 88 Pro-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AGGGCCCACTGGGCTTGTGGT 0.597000 17 45 0 0 0.00229938 0 0 LPAR3 23566 broad.mit.edu 37 1 85331711 85331711 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:85331711C>T ENST00000440886.1 - 1 131 c.93G>A c.(91-93)gtG>gtA p.V31V LPAR3_ENST00000370611.3_Silent_p.V31V|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 31 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 ACAAAACAATCACAAGCTTTG 0.383000 45 147 0 0 0.00285205 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881399 111881399 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:111881399C>T ENST00000393256.3 + 2 350 c.77C>T c.(76-78)cCc>cTc p.P26L BCL2L11_ENST00000393253.2_Missense_Mutation_p.P26L|BCL2L11_ENST00000405953.1_Missense_Mutation_p.P26L|BCL2L11_ENST00000308659.8_Missense_Mutation_p.P26L|BCL2L11_ENST00000337565.5_Missense_Mutation_p.P26L|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P26L NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 26 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 GAGAGGCCTCCCCAGCTCAGA 0.547000 7 43 0 0 0.000274275 0 0 TBC1D13 54662 broad.mit.edu 37 9 131559354 131559354 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131559354C>T ENST00000372648.5 + 7 554 c.404C>T c.(403-405)tCc>tTc p.S135F TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000223865.8_Missense_Mutation_p.S135F NM_018201.3 NP_060671.3 Q9NVG8 TBC13_HUMAN TBC1 domain family, member 13 135 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 CCAGACATTTCCTTCTTCCAG 0.502000 91 92 0 0 0.000781405 0 0 KRT33A 3883 broad.mit.edu 37 17 39502871 39502871 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39502871G>A ENST00000007735.3 - 6 970 c.926C>T c.(925-927)tCc>tTc p.S309F NM_004138.3 NP_004129.2 O76009 KT33A_HUMAN keratin 33A 309 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) GGACAGCTGGGAGCTGTAGCG 0.587000 14 48 0 0 0.00185496 0 0 ZNF208 7757 broad.mit.edu 37 19 22154204 22154204 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22154204G>A ENST00000397126.4 - 4 3780 c.3632C>T c.(3631-3633)aCc>aTc p.T1211I ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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) ATATCTAAGGGTTGAGGGCCA 0.373000 16 47 0 0 0.000308642 0 0 DCHS2 54798 broad.mit.edu 37 4 155157450 155157450 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:155157450G>A ENST00000357232.3 - 25 6988 c.6989C>T c.(6988-6990)tCc>tTc p.S2330F NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2330 Cadherin 21. 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) TATGGTAGAGGAAATAGGCAG 0.408000 11 43 0 0 0.00136819 0 0 KRT4 3851 broad.mit.edu 37 12 53207707 53207707 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53207707C>T ENST00000293774.4 - 1 628 c.358G>A c.(358-360)Gga>Aga p.G120R KRT4_ENST00000551956.1_Missense_Mutation_p.G46R|KRT4_ENST00000458244.2_Missense_Mutation_p.G46R B4DRS2 B4DRS2_HUMAN keratin 4 46 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CTGCCAAATCCCCCAGAAGAG 0.602000 34 108 0 0 0.00058488 0 0 BCLAF1 9774 broad.mit.edu 37 6 136590638 136590638 + Missense_Mutation SNP C C T rs147964608 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:136590638C>T ENST00000531224.1 - 9 2408 c.2156G>A c.(2155-2157)gGa>gAa p.G719E BCLAF1_ENST00000527759.1_Missense_Mutation_p.G717E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G717E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G719E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G546E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G717E NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 719 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) CTTTCTTGATCCACTGGATTC 0.408000 7 97 0 0 0.000157383 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228933 142228933 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:142228933G>A ENST00000519067.1 - 4 956 c.653C>T c.(652-654)cCc>cTc p.P218L SLC45A4_ENST00000433583.2_Missense_Mutation_p.P211L|SLC45A4_ENST00000024061.3_Missense_Mutation_p.P218L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P269L Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 269 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493) CAGGGCGCCGGGCTCCTCAGC 0.672000 18 35 0 0 0.00121646 0 0 PALB2 79728 broad.mit.edu 37 16 23625360 23625360 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:23625360G>A ENST00000261584.4 - 11 3318 c.3166C>T c.(3166-3168)Caa>Taa p.Q1056* CTD-2196E14.3_ENST00000561764.1_RNA NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 1056 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) ACTGAAGCTTGGTAAGAATCA 0.368000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 9 29 0 0 0.00136819 0 0 ADCY8 114 broad.mit.edu 37 8 131916162 131916162 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131916162C>T ENST00000286355.5 - 7 3859 c.1767G>A c.(1765-1767)caG>caA p.Q589Q ADCY8_ENST00000377928.3_Silent_p.Q589Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 589 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) TGTCCTCAGGCTGCTTAATTA 0.478000 HNSCC(32;0.087) 32 80 0 0 0.00178596 0 0 NEB 4703 broad.mit.edu 37 2 152534213 152534213 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152534213C>T ENST00000427231.2 - 34 3842 c.3640G>A c.(3640-3642)Gaa>Aaa p.E1214K NEB_ENST00000409198.1_Missense_Mutation_p.E1214K|NEB_ENST00000603639.1_Missense_Mutation_p.E1214K|NEB_ENST00000604864.1_Missense_Mutation_p.E1214K|NEB_ENST00000172853.10_Missense_Mutation_p.E1214K|NEB_ENST00000397345.3_Missense_Mutation_p.E1214K NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1214 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 p.E1214K(3) 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) TTAACTTTTTCGACGTCGAGA 0.453000 97 201 0 0 0.000781405 0 0 HLA-DRB1 3123 broad.mit.edu 37 6 32549500 32549500 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32549500C>T ENST00000360004.5 - 3 591 c.486G>A c.(484-486)ctG>ctA p.L162L NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 CCTGGCCGTTCAGGAACCACC 0.547000 Multiple Myeloma(14;0.17) 7 129 0 0 0.000274275 0 0 COL4A2 1284 broad.mit.edu 37 13 111109730 111109730 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:111109730C>T ENST00000360467.5 + 21 1686 c.1380C>T c.(1378-1380)ggC>ggT p.G460G COL4A2-AS2_ENST00000458403.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 460 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) GAAGAGCAGGCTTCCCTGGGC 0.617000 7 25 0 0 0.000673444 0 0 CEP44 80817 broad.mit.edu 37 4 175223258 175223258 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:175223258A>T ENST00000503780.1 + 4 572 c.158A>T c.(157-159)tAt>tTt p.Y53F CEP44_ENST00000426172.1_Missense_Mutation_p.Y53F|CEP44_ENST00000457424.2_Missense_Mutation_p.Y53F|CEP44_ENST00000296519.4_Missense_Mutation_p.Y53F NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 53 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 TACTCACCTTATGTAACAGAA 0.328000 28 59 0 0 0.00283554 0 0 ZNF143 7702 broad.mit.edu 37 11 9534078 9534078 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:9534078G>A ENST00000396602.2 + 13 1578 c.1459G>A c.(1459-1461)Gcc>Acc p.A487T ZNF143_ENST00000299606.2_Missense_Mutation_p.A459T|ZNF143_ENST00000396604.1_Missense_Mutation_p.A486T|ZNF143_ENST00000530463.1_Missense_Mutation_p.A486T|ZNF143_ENST00000396597.3_Missense_Mutation_p.A456T NM_003442.5 NP_003433.3 P52747 ZN143_HUMAN zinc finger protein 143 487 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 13 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) TACACAAGTAGCCACAGTAAC 0.413000 22 47 0 0 0.00229938 0 0 OR4B1 119765 broad.mit.edu 37 11 48238470 48238470 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48238470G>A ENST00000309562.2 + 1 127 c.109G>A c.(109-111)Gtg>Atg p.V37M NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCTTGCCACGGTGGTGGGCAA 0.502000 40 87 0 0 0.00222228 0 0 CORIN 10699 broad.mit.edu 37 4 47655594 47655594 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:47655594C>T ENST00000273857.4 - 13 1818 c.1819G>A c.(1819-1821)Gat>Aat p.D607N CORIN_ENST00000502252.1_Missense_Mutation_p.D540N|CORIN_ENST00000504584.1_Missense_Mutation_p.D570N|CORIN_ENST00000508498.1_Missense_Mutation_p.D468N|CORIN_ENST00000505909.1_Missense_Mutation_p.D570N NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 607 LDL-receptor class A 5. 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 TCACTGTCATCGTCACAGTCG 0.393000 18 51 0 0 0.00121646 0 0 GALNT11 63917 broad.mit.edu 37 7 151797962 151797962 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:151797962C>T ENST00000434507.1 + 5 812 c.375C>T c.(373-375)gaC>gaT p.D125D GALNT11_ENST00000415421.1_Silent_p.D125D|GALNT11_ENST00000430044.2_Silent_p.D125D|GALNT11_ENST00000452146.2_Silent_p.D44D|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000320311.2_Silent_p.D125D|GALNT11_ENST00000422997.2_Intron Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 125 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TTATCAGTGACCGCTTGGGCT 0.408000 30 89 0 0 0.00178596 0 0 GJA10 84694 broad.mit.edu 37 6 90604299 90604299 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:90604299C>T ENST00000369352.1 + 1 112 c.112C>T c.(112-114)Cgt>Tgt p.R38C NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 38 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCTGGTACTTCGTGTGGCTGC 0.498000 26 52 0 0 0.000586117 0 0 DOPEY2 9980 broad.mit.edu 37 21 37650331 37650331 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:37650331C>T ENST00000399151.3 + 29 5856 c.5771C>T c.(5770-5772)cCg>cTg p.P1924L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1924 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAAGCTGTGCCGTTAATCTCC 0.448000 31 74 0 0 0.00111076 0 0 RBFOX2 23543 broad.mit.edu 37 22 36142011 36142011 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:36142011G>A ENST00000449924.2 - 12 1245 c.1057C>T c.(1057-1059)Cat>Tat p.H353Y RBFOX2_ENST00000397303.2_Missense_Mutation_p.H330Y|RBFOX2_ENST00000438146.2_Missense_Mutation_p.H424Y|RBFOX2_ENST00000405409.2_Silent_p.T336T|RBFOX2_ENST00000414461.2_Silent_p.T339T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.H349Y|RBFOX2_ENST00000262829.7_Missense_Mutation_p.H331Y|RBFOX2_ENST00000359369.4_Silent_p.T339T O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 363 Ala-rich. estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 GCAAGGGCATGGTAGGGGTCG 0.408000 87 226 0 0 0.000781405 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122478140 122478140 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122478140G>A ENST00000383659.1 - 4 622 c.500C>T c.(499-501)tCc>tTc p.S167F HSPBAP1_ENST00000306103.2_Missense_Mutation_p.S167F|HSPBAP1_ENST00000465044.1_5'UTR Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 167 Interaction with HSPB1 (By similarity).|JmjC. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) GGCTCCCAAGGAGCCAATCCA 0.448000 18 38 0 0 0.00121646 0 0 AFF3 3899 broad.mit.edu 37 2 100210149 100210149 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:100210149G>A ENST00000317233.4 - 14 2209 c.1974C>T c.(1972-1974)atC>atT p.I658I AFF3_ENST00000356421.2_Silent_p.I683I|AFF3_ENST00000409236.1_Silent_p.I658I|AFF3_ENST00000409579.1_Silent_p.I683I NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 658 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 ATTTGGGGACGATCCTGCTTA 0.612000 19 55 0 0 0.00229938 0 0 OR5V1 81696 broad.mit.edu 37 6 29323773 29323773 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29323773G>A ENST00000377154.1 - 4 499 c.200C>T c.(199-201)gCc>gTc p.A67V OR5V1_ENST00000543825.1_Missense_Mutation_p.A67V Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 67 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 GTCAATAAAGGCCAAGTTCCC 0.408000 47 189 0 0 0.000781405 0 0 PKHD1 5314 broad.mit.edu 37 6 51890234 51890234 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:51890234G>A ENST00000371117.3 - 32 4649 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S PKHD1_ENST00000340994.4_Silent_p.S1458S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1458 IPT/TIG 9. 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) TGACGTTCAGGGAGAAGGAAG 0.522000 16 28 0 0 0.000308642 0 0 NLRP8 126205 broad.mit.edu 37 19 56466865 56466865 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56466865C>T ENST00000291971.3 + 3 1512 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.Q481* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 481 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CAAGCTGGATCAGACGGGAGT 0.493000 29 89 0 0 0.00127121 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645595 7645595 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:7645595G>A ENST00000340209.4 + 5 825 c.528G>A c.(526-528)agG>agA p.R176R RBFOX1_ENST00000311745.5_Silent_p.R191R|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Silent_p.R171R|RBFOX1_ENST00000436368.2_Silent_p.R191R|RBFOX1_ENST00000422070.4_Silent_p.R214R|RBFOX1_ENST00000355637.4_Silent_p.R191R|RBFOX1_ENST00000552089.1_Silent_p.R188R|RBFOX1_ENST00000547338.1_Silent_p.R171R|RBFOX1_ENST00000550418.1_Silent_p.R171R|RBFOX1_ENST00000547372.1_Silent_p.R214R Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 171 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATGCGGACAGGGCGAGGGAGA 0.428000 24 88 0 0 0.00127121 0 0 TRPM6 140803 broad.mit.edu 37 9 77339584 77339584 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:77339584T>A ENST00000451710.3 - 38 6263 c.6026A>T c.(6025-6027)gAg>gTg p.E2009V TRPM6_ENST00000376871.3_Missense_Mutation_p.E842V|TRPM6_ENST00000361255.3_Missense_Mutation_p.E2000V|TRPM6_ENST00000360774.1_Missense_Mutation_p.E2005V|TRPM6_ENST00000449912.2_Missense_Mutation_p.E2000V|TRPM6_ENST00000376872.3_Missense_Mutation_p.E960V Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 2005 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 TGCTGGAGGCTCCTCAGCTGA 0.438000 49 62 0 0 0.000781405 0 0 GPR149 344758 broad.mit.edu 37 3 154146580 154146580 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:154146580G>A ENST00000389740.2 - 1 924 c.825C>T c.(823-825)ttC>ttT p.F275F NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 275 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CACCCGGTCCGAACACGGTGT 0.677000 11 21 0 0 0.000673444 0 0 COL21A1 81578 broad.mit.edu 37 6 56029616 56029616 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:56029616C>T ENST00000244728.5 - 8 1680 c.1283G>A c.(1282-1284)gGa>gAa p.G428E COL21A1_ENST00000370819.1_Intron|COL21A1_ENST00000535941.1_Intron NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 428 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) GCCTACCTCTCCATTCTGAAA 0.299000 8 20 0 0 0.000442599 0 0 RBPJ 3516 broad.mit.edu 37 4 26417130 26417130 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:26417130G>T ENST00000342320.4 + 4 362 c.186G>T c.(184-186)atG>atT p.M62I RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Missense_Mutation_p.M76I|RBPJ_ENST00000345843.3_Missense_Mutation_p.M61I|RBPJ_ENST00000507561.1_Missense_Mutation_p.M41I|RBPJ_ENST00000504907.1_Missense_Mutation_p.M62I|RBPJ_ENST00000361572.6_Missense_Mutation_p.M76I|RBPJ_ENST00000348160.4_Missense_Mutation_p.M63I|RBPJ_ENST00000355476.3_Missense_Mutation_p.M62I Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 76 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) TATATCTTATGGGCAGTGGAT 0.363000 6 106 0.00116845 0.0045107 0.00116845 1 0 ZFHX4 79776 broad.mit.edu 37 8 77761885 77761885 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:77761885C>T ENST00000521891.2 + 8 4231 c.3783C>T c.(3781-3783)ctC>ctT p.L1261L ZFHX4_ENST00000050961.6_Silent_p.L1216L|ZFHX4_ENST00000455469.2_Silent_p.L1216L|ZFHX4_ENST00000518282.1_Silent_p.L1235L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATGCATCTCCAACTGCATC 0.483000 HNSCC(33;0.089) 8 35 0 0 0.000274275 0 0 TSPAN33 340348 broad.mit.edu 37 7 128807634 128807634 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128807634C>T ENST00000289407.4 + 8 880 c.771C>T c.(769-771)tcC>tcT p.S257S NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 257 integral to membrane NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TTCTGCTGTCCCAGATCCTAG 0.542000 6 16 0 0 0.00116845 0 0 PDE1A 5136 broad.mit.edu 37 2 183104855 183104855 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:183104855G>A ENST00000435564.1 - 3 580 c.380C>T c.(379-381)gCt>gTt p.A127V PDE1A_ENST00000536095.1_Missense_Mutation_p.A23V|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.A93V|PDE1A_ENST00000358139.2_Missense_Mutation_p.A127V|PDE1A_ENST00000331935.6_Missense_Mutation_p.A127V|PDE1A_ENST00000351439.5_Missense_Mutation_p.A111V|PDE1A_ENST00000410103.1_Missense_Mutation_p.A127V|PDE1A_ENST00000409365.1_Missense_Mutation_p.A111V|PDE1A_ENST00000456212.1_Missense_Mutation_p.A127V NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 127 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) AAAAATTCCAGCTTGAACAGC 0.403000 31 93 0 0 0.00058488 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19685373 19685373 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:19685373G>A ENST00000284885.3 - 18 2087 c.2054C>T c.(2053-2055)aCg>aTg p.T685M NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 685 SRCR. 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 ATTGTTGTTCGTtgtgccatt 0.443000 28 59 0 0 0.00209593 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113604 55113604 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:55113604C>T ENST00000370862.3 + 2 727 c.391C>T c.(391-393)Cct>Tct p.P131S NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 131 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CAAAGTGATTCCTTATCTACA 0.428000 50 127 0 0 0.000781405 0 0 CD163L1 283316 broad.mit.edu 37 12 7550860 7550860 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7550860C>T ENST00000313599.3 - 7 1786 c.1729_splice c.e7+1 p.G577_splice CD163L1_ENST00000416109.2_Splice_Site_p.G587_splice|CD163L1_ENST00000396630.1_Splice_Site_p.G577_splice Q9NR16 C163B_HUMAN CD163 molecule-like 1 577 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 CAAGTCTTACCTGAGCAGGTT 0.393000 15 32 0 0 0.000308642 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739113 15739113 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15739113G>A ENST00000441682.2 + 0 1178 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TTTCCTTAGGGACGACCTGGC 0.602000 28 66 0 0 0.00283554 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874726 144874726 + Nonsense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:144874726C>A ENST00000369359.4 - 33 5328 c.5290G>T c.(5290-5292)Gag>Tag p.E1764* PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E1584*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.E1628*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.E1628*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E1764* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1628 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.E1628*(2) 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) TGTGTGTACTCGCTGACTATG 0.527000 T PDGFRB MPD 12 382 0.000308642 0.00119591 0.000308642 1 0 CSPG4 1464 broad.mit.edu 37 15 75981934 75981934 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:75981934C>T ENST00000308508.5 - 3 1564 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 491 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GAACATTTTTCGTGCCTGGGC 0.637000 50 22 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13776628 13776628 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13776628C>T ENST00000265104.4 - 55 9397 c.9293G>A c.(9292-9294)aGa>aAa p.R3098K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3098 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTCAAAGCTCTGTTTCGAAA 0.468000 Kartagener syndrome 31 71 0 0 0.00178596 0 0 PTPRF 5792 broad.mit.edu 37 1 44069127 44069127 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:44069127C>T ENST00000359947.4 + 15 2721 c.2381C>T c.(2380-2382)tCc>tTc p.S794F PTPRF_ENST00000372414.3_Missense_Mutation_p.S794F|PTPRF_ENST00000372413.3_Missense_Mutation_p.S785F|PTPRF_ENST00000422171.2_Missense_Mutation_p.S142F|PTPRF_ENST00000438120.1_Missense_Mutation_p.S785F|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 794 Fibronectin type-III 5. 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) ACCACCTACTCCGTTACTGTT 0.582000 34 37 0 0 0.000692331 0 0 PHYKPL 85007 broad.mit.edu 37 5 177651732 177651732 + Splice_Site SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:177651732T>A ENST00000308158.5 - 5 648 c.e5-2 PHYKPL_ENST00000481811.1_Intron NM_153373.2 NP_699204.1 5-phosphohydroxy-L-lysine phospho-lyase TGATACGCACTGGGGAGGAGA 0.622000 7 20 0 0 0.00198382 0 0 LPIN2 9663 broad.mit.edu 37 18 2951204 2951204 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:2951204A>G ENST00000261596.4 - 4 677 c.439T>C c.(439-441)Ttt>Ctt p.F147L RP11-737O24.2_ENST00000584431.1_RNA NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 147 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CTTGGAGTAAAAATTGTCTCT 0.423000 18 59 0 0 0.00229938 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43626810 43626810 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43626810G>A ENST00000332857.6 - 4 1905 c.1877C>T c.(1876-1878)tCa>tTa p.S626L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGTCCCTGGTGATTCGTCCCG 0.537000 14 43 0 0 0.000958276 0 0 SPOCD1 90853 broad.mit.edu 37 1 32259468 32259468 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:32259468G>A ENST00000360482.2 - 12 2543 c.2414C>T c.(2413-2415)tCc>tTc p.S805F SPOCD1_ENST00000533231.1_Missense_Mutation_p.S805F|SPOCD1_ENST00000257100.3_Missense_Mutation_p.S298F|SPOCD1_ENST00000373648.2_3'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 805 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GGCTTCGAAGGAGCCTAGCAG 0.572000 62 98 0 0 0.000781405 0 0 PTPRT 11122 broad.mit.edu 37 20 41420048 41420048 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:41420048G>A ENST00000373198.3 - 3 508 c.273C>T c.(271-273)ctC>ctT p.L91L PTPRT_ENST00000356100.2_Silent_p.L91L|PTPRT_ENST00000373187.1_Silent_p.L91L|PTPRT_ENST00000373184.1_Silent_p.L91L|PTPRT_ENST00000373190.1_Silent_p.L91L|PTPRT_ENST00000373193.3_Silent_p.L91L|PTPRT_ENST00000373201.1_Silent_p.L91L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 91 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGGTTGGCAGGAGAAGGTGGG 0.547000 7 12 0 0 0.000157383 0 0 NOMO2 283820 broad.mit.edu 37 16 18532158 18532158 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:18532158G>A ENST00000330537.6 - 19 2372 c.2202C>T c.(2200-2202)acC>acT p.T734T NOMO2_ENST00000543392.1_Silent_p.T567T|NOMO2_ENST00000381474.3_Silent_p.T734T NM_173614.2 NP_775885.1 Q5JPE7 NOMO2_HUMAN NODAL modulator 2 734 endoplasmic reticulum membrane|integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1) 20 CGGGAGGCTTGGTCATTCTTT 0.557000 39 212 0 0 0.000781405 0 0 ELF4 2000 broad.mit.edu 37 X 129201362 129201362 + Silent SNP G G A rs139671354 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:129201362G>A ENST00000308167.5 - 9 1705 c.1326C>T c.(1324-1326)ctC>ctT p.L442L ELF4_ENST00000335997.7_Silent_p.L442L NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 442 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 TCTGGAGAACGAGCTGAGTGG 0.617000 T ERG AML 31 8 0 0 0.00283554 0 0 OR10J1 26476 broad.mit.edu 37 1 159410280 159410280 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159410280G>A ENST00000423932.3 + 1 769 c.732G>A c.(730-732)cgG>cgA p.R244R RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 244 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TTGAGGGCCGGAAGAAGGCTT 0.478000 24 49 0 0 0.000586117 0 0 RFX6 222546 broad.mit.edu 37 6 117252646 117252646 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:117252646G>A ENST00000332958.2 + 19 2780 c.2764G>A c.(2764-2766)Gga>Aga p.G922R NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 922 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTGTTCATGGGAACAGCAGC 0.438000 13 23 0 0 0.00185496 0 0 XRN2 22803 broad.mit.edu 37 20 21328863 21328863 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:21328863C>T ENST00000377191.3 + 18 1840 c.1745C>T c.(1744-1746)cCa>cTa p.P582L XRN2_ENST00000539513.1_Missense_Mutation_p.P528L|XRN2_ENST00000430571.2_Missense_Mutation_p.P506L NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 582 P -> S (in Ref. 1; AAQ13577). cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 GCAGACATGCCATCTGATTTT 0.348000 32 63 0 0 0.00283554 0 0 PRSS35 167681 broad.mit.edu 37 6 84234178 84234178 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84234178G>A ENST00000536636.1 + 3 1363 c.1018G>A c.(1018-1020)Gat>Aat p.D340N PRSS35_ENST00000369700.3_Missense_Mutation_p.D340N NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 340 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CCAATACTGCGATGCTGAGTC 0.488000 23 71 0 0 0.000878237 0 0 GATA3 2625 broad.mit.edu 37 10 8115931 8115931 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:8115931C>T ENST00000379328.3 + 6 1848 c.1280C>T c.(1279-1281)tCc>tTc p.S427F GATA3_ENST00000346208.3_Missense_Mutation_p.S426F|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 426 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.S428fs*>18(1) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CACCCGCCATCCAGCCTGTCC 0.662000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 24 57 0 0 0.00209593 0 0 F10 2159 broad.mit.edu 37 13 113803237 113803237 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113803237G>A ENST00000375551.3 + 8 905 c.863G>A c.(862-864)gGa>gAa p.G288E F10_ENST00000375559.3_Silent_p.R291R|F10_ENST00000409306.1_Missense_Mutation_p.G290E P00742 FA10_HUMAN coagulation factor X 0 Peptidase S1. KVRV -> E (in Ref. 6; AAA51984 and 8; AAA52486). 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) CAGGGGACCGGAACACGGAGC 0.542000 37 90 0 0 0.00148497 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361450 70361450 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:70361450C>T ENST00000305107.6 - 1 176 c.130G>A c.(130-132)Gat>Aat p.D44N UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.D44N NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 44 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACAAGTTCATCCAGGATTGTC 0.448000 54 110 0 0 0.000781405 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799762 133799762 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:133799762G>A ENST00000372338.4 - 3 816 c.574C>T c.(574-576)Cac>Tac p.H192Y FIBCD1_ENST00000253018.4_Missense_Mutation_p.H34Y|FIBCD1_ENST00000372337.2_Missense_Mutation_p.H34Y|FIBCD1_ENST00000448616.1_Missense_Mutation_p.H192Y NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 192 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) TGAGCCATGTGGCCCTGGCTC 0.682000 10 14 0 0 0.000673444 0 0 ATP13A5 344905 broad.mit.edu 37 3 193031955 193031955 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:193031955A>G ENST00000342358.4 - 19 2303 c.2186T>C c.(2185-2187)gTt>gCt p.V729A ATP13A5-AS1_ENST00000414634.1_RNA NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 729 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) ATTCTTTGCAACAGTAATGGC 0.463000 18 73 0 0 0.000958276 0 0 SLC44A5 204962 broad.mit.edu 37 1 75805292 75805292 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75805292C>T ENST00000370855.5 - 4 189 c.76G>A c.(76-78)Gat>Aat p.D26N SLC44A5_ENST00000370859.3_Missense_Mutation_p.D26N|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 26 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 CCCTTGAAATCTGGGTCATAT 0.348000 226 242 0 0 0.000781405 0 0 CKAP2 26586 broad.mit.edu 37 13 53049131 53049131 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:53049131C>T ENST00000378037.5 + 9 1997 c.1907C>T c.(1906-1908)tCt>tTt p.S636F CKAP2_ENST00000258607.5_Missense_Mutation_p.S635F|CKAP2_ENST00000490903.1_Missense_Mutation_p.S587F NM_001098525.1|NM_018204.3 NP_001091995.1|NP_060674.3 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 636 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) GAGAAAACTTCTAAATTGCCA 0.393000 24 42 0 0 0.000720815 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956469 96956469 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:96956469G>A ENST00000323853.5 - 19 2583 c.2506C>T c.(2506-2508)Cca>Tca p.P836S SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 836 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CCCTTCTCTGGACTGTACACC 0.488000 37 70 0 0 0.00111076 0 0 SYT9 143425 broad.mit.edu 37 11 7324274 7324274 + Missense_Mutation SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:7324274C>G ENST00000318881.6 + 2 387 c.150C>G c.(148-150)atC>atG p.I50M SYT9_ENST00000396716.2_Missense_Mutation_p.I18M NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 50 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.I50I(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TTGCAGATATCTCAGTGAGCC 0.542000 19 59 0 0 0.00121646 0 0 MYF6 4618 broad.mit.edu 37 12 81101550 81101550 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:81101550G>A ENST00000228641.3 + 1 274 c.52G>A c.(52-54)Gaa>Aaa p.E18K NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 18 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CTTGGATGGGGAAAATGTTAC 0.502000 20 63 0 0 0.000958276 0 0 TTN 7273 broad.mit.edu 37 2 179600576 179600576 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179600576G>A ENST00000589042.1 - 50 14821 c.14597C>T c.(14596-14598)tCt>tTt p.S4866F TTN_ENST00000591111.1_Missense_Mutation_p.S4549F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3622F|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4549 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCTTACAAGAATAAACTCC 0.418000 19 50 0 0 0.00121646 0 0 FAT4 79633 broad.mit.edu 37 4 126412600 126412600 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126412600G>A ENST00000394329.3 + 17 14636 c.14623G>A c.(14623-14625)Gaa>Aaa p.E4875K FAT4_ENST00000335110.5_Missense_Mutation_p.E3116K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4875 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 TCAAGTCAATGAATCTGATGC 0.483000 20 38 0 0 0.00152264 0 0 OR12D3 81797 broad.mit.edu 37 6 29342447 29342447 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29342447C>T ENST00000396806.3 - 1 621 c.618G>A c.(616-618)atG>atA p.M206I OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 206 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 AGAAAGCTCCCATGGATATGC 0.443000 16 59 0 0 0.00074312 0 0 ADAM8 101 broad.mit.edu 37 10 135085413 135085413 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:135085413C>T ENST00000445355.3 - 11 1053 c.1003G>A c.(1003-1005)Gag>Aag p.E335K ADAM8_ENST00000485491.2_Missense_Mutation_p.E296K|ADAM8_ENST00000415217.3_Missense_Mutation_p.E335K NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 296 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) TGGCCCATCTCATGGGCCATG 0.647000 21 23 0 0 0.00229938 0 0 ZNF831 128611 broad.mit.edu 37 20 57782012 57782012 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:57782012C>T ENST00000371030.2 + 3 3928 c.3928C>T c.(3928-3930)Cgc>Tgc p.R1310C NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1310 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) CAGTAGACTTCGCACACCAAC 0.547000 39 85 0 0 0.00128727 0 0 CPA6 57094 broad.mit.edu 37 8 68423836 68423836 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:68423836G>A ENST00000297770.4 - 4 587 c.372C>T c.(370-372)acC>acT p.T124T CPA6_ENST00000518549.1_Silent_p.T124T|CPA6_ENST00000297769.4_5'UTR NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 124 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GGTTTCTCTGGGTGTGCAAGC 0.378000 64 184 0 0 0.000781405 0 0 ROBO4 54538 broad.mit.edu 37 11 124757690 124757690 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:124757690G>A ENST00000306534.3 - 13 2480 c.1995C>T c.(1993-1995)tcC>tcT p.S665S ROBO4_ENST00000533054.1_Silent_p.S520S NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 665 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGAGCTCCAAGGAGTGGCTGC 0.577000 13 18 0 0 0.000422831 0 0 PBX4 80714 broad.mit.edu 37 19 19675743 19675743 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:19675743G>A ENST00000251203.8 - 6 1210 c.925_splice c.e6+1 p.S308_splice NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 308 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CTCACTCACCGGAGCTAGGTG 0.597000 38 95 0 0 0.00111076 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862543 25862543 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:25862543G>A ENST00000397060.4 - 3 330 c.221C>T c.(220-222)tCc>tTc p.S74F SLC17A3_ENST00000361703.6_Missense_Mutation_p.S74F|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S74F NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 74 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 ATTGAGCTGGGATTGAGGGCT 0.448000 21 76 0 0 0.00152264 0 0 CDON 50937 broad.mit.edu 37 11 125889518 125889518 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:125889518G>A ENST00000392693.3 - 4 619 c.492C>T c.(490-492)tcC>tcT p.S164S CDON_ENST00000263577.7_Silent_p.S164S NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 164 Ig-like C2-type 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TCTCACCTGTGGAATGTTCCA 0.473000 57 76 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9067129 9067129 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9067129G>A ENST00000397910.4 - 3 20520 c.20317C>T c.(20317-20319)Cca>Tca p.P6773S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6775 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 TCTGAGTGTGGAAATTCCTGA 0.488000 48 160 0 0 0.000781405 0 0 ACE 1636 broad.mit.edu 37 17 61557233 61557233 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:61557233G>A ENST00000290866.4 + 4 639 c.615G>A c.(613-615)gaG>gaA p.E205E ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.E205E|ACE_ENST00000428043.1_Silent_p.E205E NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 205 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CGCTGTACGAGGATTTCACTG 0.612000 7 22 0 0 0.00198382 0 0 DAPK2 23604 broad.mit.edu 37 15 64275775 64275775 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:64275775C>T ENST00000261891.3 - 2 276 c.271G>A c.(271-273)Gac>Aac p.D91N DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.D91N|DAPK2_ENST00000558069.1_Missense_Mutation_p.D91N Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 91 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) TCATAGACGTCGTGCAGCGTG 0.672000 41 21 0 0 0.000781405 0 0 KRT73 319101 broad.mit.edu 37 12 53010096 53010096 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53010096C>T ENST00000305748.3 - 2 550 c.516G>A c.(514-516)ctG>ctA p.L172L NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 172 Linker 1.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TGCAGTTGTTCAGGTCCAGCT 0.572000 26 76 0 0 0.00209593 0 0 ECE1 1889 broad.mit.edu 37 1 21546555 21546555 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:21546555G>A ENST00000415912.2 - 19 2283 c.2158C>T c.(2158-2160)Cgc>Tgc p.R720C ECE1_ENST00000374893.6_Missense_Mutation_p.R736C|ECE1_ENST00000357071.4_Missense_Mutation_p.R724C|ECE1_ENST00000264205.6_Missense_Mutation_p.R733C|ECE1_ENST00000436918.2_Missense_Mutation_p.R704C NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 736 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) ACCCGGAAGCGAGAGGGGCTG 0.617000 15 17 0 0 0.000308642 0 0 OR52A5 390054 broad.mit.edu 37 11 5153745 5153745 + Missense_Mutation SNP C C T rs145415920 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5153745C>T ENST00000307388.1 - 1 127 c.128G>A c.(127-129)gGa>gAa p.G43E NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TAGGGAATTTCCAATCACACC 0.403000 11 35 0 0 0.000978159 0 0 PRB3 5544 broad.mit.edu 37 12 11420975 11420975 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11420975C>T ENST00000381842.3 - 0 245 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGTGGGGGACCTTGGGACTGG 0.622000 37 119 0 0 0.00170553 0 0 ZNF679 168417 broad.mit.edu 37 7 63726909 63726909 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:63726909G>A ENST00000421025.1 + 5 1167 c.898G>A c.(898-900)Gaa>Aaa p.E300K ZNF679_ENST00000255746.4_Missense_Mutation_p.E300K NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 300 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 CACATGTGAAGAATGTGGCAA 0.443000 13 30 0 0 0.000308642 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430983 37430983 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37430983G>A ENST00000374660.1 + 7 1089 c.990G>A c.(988-990)gaG>gaA p.E330E ANKRD30A_ENST00000361713.1_Silent_p.E330E|ANKRD30A_ENST00000602533.1_Silent_p.E330E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 386 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TCGCATGGGAGAAAAAAGAAG 0.443000 34 81 0 0 0.00111076 0 0 KCNA1 3736 broad.mit.edu 37 12 5021546 5021546 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5021546C>T ENST00000382545.3 + 2 2109 c.1002C>T c.(1000-1002)ttC>ttT p.F334F KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 334 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTTTCCTCTTCATCGGGGTCA 0.547000 21 63 0 0 0.00121646 0 0 DDX60 55601 broad.mit.edu 37 4 169195106 169195106 + Silent SNP G G A rs138638907 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:169195106G>A ENST00000393743.3 - 17 2724 c.2433C>T c.(2431-2433)gtC>gtT p.V811V NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 811 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.V811V(2) 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) CAACGTACACGACCACCCCGT 0.453000 32 57 0 0 0.00111076 0 0 NAALADL2 254827 broad.mit.edu 37 3 174814871 174814871 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:174814871G>A ENST00000454872.1 + 2 463 c.335G>A c.(334-336)cGa>cAa p.R112Q NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 112 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CATTATACACGATCTGCACCA 0.378000 41 85 0 0 0.00148497 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879240 209879240 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:209879240G>A ENST00000367028.2 + 3 342 c.173G>A c.(172-174)gGa>gAa p.G58E RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.G58E|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G58E NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 58 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) GCGAAGATGGGAGCCCATGTG 0.502000 10 62 0 0 0.000442599 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734231 28734231 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:28734231C>T ENST00000550043.1 + 0 636 GGCATATTCTCTGCAGAATTT 0.498000 9 8 0 0 0.000673444 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200818296 200818296 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:200818296C>T ENST00000358823.2 + 11 2669 c.2399C>T c.(2398-2400)cCt>cTt p.P800L CAMSAP2_ENST00000236925.4_Missense_Mutation_p.P811L|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.P784L NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 811 cytoplasm|microtubule protein binding GGGATATCTCCTCTACGAGAG 0.418000 34 61 0 0 0.00285205 0 0 CUZD1 50624 broad.mit.edu 37 10 124591942 124591942 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124591942T>C ENST00000368904.1 - 11 2625 c.1676A>G c.(1675-1677)gAa>gGa p.E559G CUZD1_ENST00000392790.1_Missense_Mutation_p.E559G|CUZD1_ENST00000545804.1_Missense_Mutation_p.E559G Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 559 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TGGAGTTTCTTCCGCATGTGT 0.368000 24 35 0 0 0.00127121 0 0 CHRM4 1132 broad.mit.edu 37 11 46407940 46407940 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:46407940G>A ENST00000433765.2 - 1 167 c.168C>T c.(166-168)tcC>tcT p.S56S NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 56 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGACCTTGATGGACAGCATCA 0.537000 14 15 0 0 0.00185496 0 0 CELF4 56853 broad.mit.edu 37 18 34853055 34853055 + Silent SNP G G A rs150488058 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:34853055G>A ENST00000420428.2 - 7 1268 c.873C>T c.(871-873)ttC>ttT p.F291F CELF4_ENST00000334919.5_Silent_p.F281F|CELF4_ENST00000412753.1_Silent_p.F290F|CELF4_ENST00000588597.1_Silent_p.F280F|CELF4_ENST00000591282.1_Silent_p.F291F|CELF4_ENST00000361795.5_Silent_p.F289F|CELF4_ENST00000591287.1_Silent_p.F290F|CELF4_ENST00000601019.1_Silent_p.F289F|CELF4_ENST00000603232.1_Silent_p.F290F NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 291 Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 GGGCGGCAGCGAAGGCAGCCA 0.632000 16 34 0 0 0.000566183 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684184 75684184 + Missense_Mutation SNP C C T rs143004355 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75684184C>T ENST00000370855.5 - 17 1633 c.1520G>A c.(1519-1521)cGa>cAa p.R507Q SLC44A5_ENST00000370859.3_Missense_Mutation_p.R507Q|SLC44A5_ENST00000535611.1_Missense_Mutation_p.R377Q NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 507 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 CCGTATGGCTCGTCCAAATGC 0.433000 96 70 0 0 0.000781405 0 0 HHAT 55733 broad.mit.edu 37 1 210637944 210637944 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:210637944C>T ENST00000367010.1 + 8 1179 c.952C>T c.(952-954)Cca>Tca p.P318S HHAT_ENST00000413764.2_Missense_Mutation_p.P318S|HHAT_ENST00000545781.1_Missense_Mutation_p.P255S|HHAT_ENST00000367009.1_Missense_Mutation_p.P8S|HHAT_ENST00000391905.3_Missense_Mutation_p.P318S|HHAT_ENST00000308852.6_Missense_Mutation_p.P273S|HHAT_ENST00000545154.1_Missense_Mutation_p.P319S|HHAT_ENST00000541565.1_Missense_Mutation_p.P181S|HHAT_ENST00000261458.3_Missense_Mutation_p.P318S|HHAT_ENST00000537898.1_Missense_Mutation_p.P253S NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 318 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGGACTCACTCCACCCGCCCT 0.587000 28 44 0 0 0.000878237 0 0 ENAM 10117 broad.mit.edu 37 4 71508463 71508463 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71508463C>T ENST00000396073.3 + 9 1601 c.1320C>T c.(1318-1320)ccC>ccT p.P440P ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 440 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) AGGAGAAGCCCCTGGGTCCAA 0.428000 11 37 0 0 0.00136819 0 0 CRAT 1384 broad.mit.edu 37 9 131870246 131870246 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131870246G>A ENST00000318080.2 - 2 432 c.138C>T c.(136-138)tcC>tcT p.S46S CRAT_ENST00000464290.1_5'UTR|CRAT_ENST00000393384.3_Silent_p.S46S NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 46 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) AGTGGTCCAGGGACTGCTGGA 0.622000 9 62 0 0 0.000442599 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802381 185802381 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:185802381C>T ENST00000302277.6 + 4 2852 c.2258C>T c.(2257-2259)gCt>gTt p.A753V NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 753 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 CAGAATCAGGCTGTTAAAAGA 0.333000 21 56 0 0 0.00152264 0 0 TEKT1 83659 broad.mit.edu 37 17 6722553 6722553 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:6722553C>T ENST00000338694.2 - 3 444 c.315G>A c.(313-315)ttG>ttA p.L105L TEKT1_ENST00000535086.1_Intron NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 105 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) AGGGCTCTTTCAAGGTCTCCA 0.438000 33 35 0 0 0.000814825 0 0 KIF26B 55083 broad.mit.edu 37 1 245848730 245848730 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:245848730G>A ENST00000366518.4 + 9 1406 c.1302G>A c.(1300-1302)ggG>ggA p.G434G KIF26B_ENST00000407071.2_Silent_p.G815G Q2KJY2 KI26B_HUMAN kinesin family member 26B 815 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CGTCCGGCGGGGAGAGCTCCT 0.647000 4 8 0 0 0.00024832 0 0 SLC7A3 84889 broad.mit.edu 37 X 70149631 70149631 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:70149631C>T ENST00000374299.3 - 2 361 c.217G>A c.(217-219)Gct>Act p.A73T SLC7A3_ENST00000298085.4_Missense_Mutation_p.A73T Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 73 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GACAGGGCAGCCACCAAAAAG 0.572000 10 1 0 0 0.000442599 0 0 ZNF208 7757 broad.mit.edu 37 19 22156338 22156338 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22156338C>T ENST00000397126.4 - 4 1646 c.1498G>A c.(1498-1500)Gaa>Aaa p.E500K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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 0.378000 25 54 0 0 0.000878237 0 0 FSIP2 401024 broad.mit.edu 37 2 186671695 186671695 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:186671695G>A ENST00000343098.5 + 17 17929 c.17929G>A c.(17929-17931)Gat>Aat p.D5977N FSIP2_ENST00000424728.1_Missense_Mutation_p.D5888N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AAAATCTGCAGATAAAATGCC 0.383000 18 46 0 0 0.000958276 0 0 SVEP1 79987 broad.mit.edu 37 9 113251984 113251984 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:113251984C>T ENST00000401783.2 - 9 2212 c.1876G>A c.(1876-1878)Gca>Aca p.A626T SVEP1_ENST00000374469.1_Missense_Mutation_p.A603T|SVEP1_ENST00000374461.1_Missense_Mutation_p.A603T|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A626T NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 626 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 AGGTCAGTTGCCGTGTATACG 0.438000 21 55 0 0 0.00152264 0 0 PHLDB2 90102 broad.mit.edu 37 3 111638006 111638006 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111638006G>A ENST00000431670.2 + 4 2218 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K PHLDB2_ENST00000495180.1_Missense_Mutation_p.E189K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E603K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E630K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E603K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E603K NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 603 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CAACCTCGAGGAACTTAAGCA 0.408000 41 68 0 0 0.000781405 0 0 SLC27A2 11001 broad.mit.edu 37 15 50528281 50528281 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:50528281C>T ENST00000267842.5 + 10 2083 c.1851C>T c.(1849-1851)acC>acT p.T617T SLC27A2_ENST00000544960.1_Silent_p.T382T|SLC27A2_ENST00000380902.4_Silent_p.T564T NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 617 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GTGCTAAAACCCTGAAACTCT 0.378000 22 26 0 0 0.00106085 0 0 FECH 2235 broad.mit.edu 37 18 55221578 55221578 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:55221578G>A ENST00000262093.5 - 9 1142 c.991C>T c.(991-993)Ctc>Ttc p.L331F FECH_ENST00000382873.3_Missense_Mutation_p.L337F NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 331 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) GGAACCAAGAGGATATTCTTC 0.463000 40 107 0 0 0.00128727 0 0 AKNAD1 254268 broad.mit.edu 37 1 109395173 109395173 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:109395173C>T ENST00000370001.3 - 2 382 c.114G>A c.(112-114)aaG>aaA p.K38K AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Silent_p.K38K|AKNAD1_ENST00000369995.3_Silent_p.K38K NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 38 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 CAAGGCCATCCTTTTTTGAGG 0.388000 56 77 0 0 0.000781405 0 0 LINC00174 285908 broad.mit.edu 37 7 65842257 65842257 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:65842257G>A ENST00000421767.1 - 0 3475 NR_026873.1 TGAACGCAGGGAAGCCTGGGG 0.726000 5 3 0 0 0.000602214 0 0 HNF4G 3174 broad.mit.edu 37 8 76456138 76456138 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:76456138T>C ENST00000396423.2 + 2 305 c.181T>C c.(181-183)Tat>Cat p.Y61H HNF4G_ENST00000354370.1_Missense_Mutation_p.Y24H NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 24 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AGGAAAACACTATGGGGCATC 0.468000 11 39 0 0 0.000978159 0 0 OR2C3 81472 broad.mit.edu 37 1 247695664 247695664 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:247695664G>A ENST00000366487.3 - 2 511 c.150C>T c.(148-150)tcC>tcT p.S50S GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CATCTGTATGGGAGACCAGAA 0.493000 23 40 0 0 0.000586117 0 0 TPTE 7179 broad.mit.edu 37 21 10916422 10916422 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10916422G>A ENST00000298232.7 - 19 1537 c.1170C>T c.(1168-1170)ctC>ctT p.L390L TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Silent_p.L370L|TPTE_ENST00000361285.4_Silent_p.L408L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 408 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCTTGGAGGGAGATTCCAGT 0.363000 10 137 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179604438 179604438 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179604438C>T ENST00000589042.1 - 48 13746 c.13522G>A c.(13522-13524)Gat>Aat p.D4508N TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D4191N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.D4270N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D4145N|TTN_ENST00000342175.6_Missense_Mutation_p.D4337N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4191 Ig-like 25. 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) GAAAAAGAATCCATTTCTTCT 0.383000 71 154 0 0 0.000781405 0 0 DARC 2532 broad.mit.edu 37 1 159176211 159176211 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159176211C>T ENST00000537147.1 + 3 1825 c.982C>T c.(982-984)Cat>Tat p.H328Y DARC_ENST00000368121.2_Missense_Mutation_p.H330Y|DARC_ENST00000368122.2_Missense_Mutation_p.H328Y Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 328 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) ATGGTCTTCTCATCTGGACAC 0.537000 73 186 0 0 0.000781405 0 0 FMNL2 114793 broad.mit.edu 37 2 153482056 153482056 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:153482056G>A ENST00000288670.9 + 16 2309 c.1942G>A c.(1942-1944)Gat>Aat p.D648N FMNL2_ENST00000475377.2_Missense_Mutation_p.D23N|FMNL2_ENST00000497192.1_3'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 648 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 CAATGAAATTGATGATGAGCG 0.433000 12 50 0 0 0.00185496 0 0 SALL1 6299 broad.mit.edu 37 16 51173577 51173577 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:51173577G>A ENST00000440970.1 - 2 2696 c.2265C>T c.(2263-2265)tcC>tcT p.S755S SALL1_ENST00000251020.4_Silent_p.S852S|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 852 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) AAGGCGAAGAGGATAAGCTGT 0.517000 10 65 0 0 0.000442599 0 0 USP44 84101 broad.mit.edu 37 12 95927181 95927181 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:95927181C>T ENST00000258499.3 - 2 1140 c.852G>A c.(850-852)atG>atA p.M284I USP44_ENST00000552440.1_Missense_Mutation_p.M284I|USP44_ENST00000537435.2_Missense_Mutation_p.M284I|USP44_ENST00000393091.2_Missense_Mutation_p.M284I NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 284 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GAACAGAATTCATATAGCAAG 0.368000 18 62 0 0 0.000566183 0 0 PARP9 83666 broad.mit.edu 37 3 122269585 122269585 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122269585G>A ENST00000462315.1 - 6 1465 c.1172C>T c.(1171-1173)tCc>tTc p.S391F PARP9_ENST00000471785.1_Missense_Mutation_p.S391F|PARP9_ENST00000477522.2_Missense_Mutation_p.S391F|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Missense_Mutation_p.S426F NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 426 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) GGCAGGAAAGGAAATGGAAGT 0.348000 17 32 0 0 0.000566183 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968026 102968026 + Missense_Mutation SNP G G A rs150294315 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:102968026G>A ENST00000233954.1 + 11 1587 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 439 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ACCAACATACGAAAGAGCAGG 0.438000 17 23 0 0 0.000958276 0 0 AC015849.16 0 broad.mit.edu 37 17 34236138 34236138 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:34236138C>T ENST00000587132.1 - 0 1889 CTCTGGAGGCCGAGTTGGGGT 0.478000 6 20 0 0 0.000157383 0 0 PRKDC 5591 broad.mit.edu 37 8 48751729 48751729 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:48751729G>A ENST00000314191.2 - 57 7586 c.7530C>T c.(7528-7530)atC>atT p.I2510I PRKDC_ENST00000338368.3_Silent_p.I2510I|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2511 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGTTCTCATCGATCAATCCTT 0.388000 Non-homologous end-joining 16 27 0 0 0.00152264 0 0 COPS5 10987 broad.mit.edu 37 8 67968840 67968840 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:67968840C>T ENST00000517736.1 - 5 943 c.e5-1 COPS5_ENST00000357849.4_Splice_Site Q92905 CSN5_HUMAN COP9 signalosome subunit 5 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) GTTTGTAGCCCTAAACAAAAA 0.224000 15 37 0 0 0.000422831 0 0 FAM107A 11170 broad.mit.edu 37 3 58552888 58552888 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:58552888G>A ENST00000464064.1 - 3 458 c.374C>T c.(373-375)tCc>tTc p.S125F FAM107A_ENST00000447756.2_Intron|FAM107A_ENST00000394481.1_Intron|FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000474531.1_Intron O95990 F107A_HUMAN family with sequence similarity 107, member A 0 regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) CTCCCTGGAGGACAGCCCTGG 0.622000 6 19 0 0 0.00198382 0 0 POM121 9883 broad.mit.edu 37 7 72413897 72413897 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72413897C>T ENST00000395270.1 + 14 3611 c.2570C>T c.(2569-2571)aCc>aTc p.T857I POM121_ENST00000358357.3_Missense_Mutation_p.T857I|POM121_ENST00000434423.2_Missense_Mutation_p.T1122I|POM121_ENST00000446813.1_Missense_Mutation_p.T857I|POM121_ENST00000257622.4_Missense_Mutation_p.T857I NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GGCTCCAGCACCACCACCGGA 0.637000 8 10 0 0 0.000274275 0 0 NME1 4830 broad.mit.edu 37 17 49233063 49233063 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:49233063C>T ENST00000511355.1 + 2 134 c.48C>T c.(46-48)gtC>gtT p.V16V NME2_ENST00000393193.2_Silent_p.V16V|NME1_ENST00000013034.3_Silent_p.V41V|NME1_ENST00000336097.3_Silent_p.V41V|NME2_ENST00000376392.6_Silent_p.V16V|NME2_ENST00000555572.1_Silent_p.V41V|NME1_ENST00000393196.3_Silent_p.V16V|NME1_ENST00000480143.1_Silent_p.V41V NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CAGATGGGGTCCAGCGGGGTC 0.488000 14 49 0 0 0.000308642 0 0 NEB 4703 broad.mit.edu 37 2 152499129 152499129 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152499129G>A ENST00000427231.2 - 60 8534 c.8332C>T c.(8332-8334)Cct>Tct p.P2778S NEB_ENST00000409198.1_Missense_Mutation_p.P2778S|NEB_ENST00000603639.1_Missense_Mutation_p.P2778S|NEB_ENST00000604864.1_Missense_Mutation_p.P2778S|NEB_ENST00000172853.10_Missense_Mutation_p.P2778S|NEB_ENST00000397345.3_Missense_Mutation_p.P2778S NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2778 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) GCCTTGATAGGAATGGCATCT 0.378000 17 50 0 0 0.00121646 0 0 OR52B4 143496 broad.mit.edu 37 11 4388923 4388923 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4388923C>T ENST00000408920.2 - 1 693 c.603G>A c.(601-603)ggG>ggA p.G201G NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GAATGGAAAACCCATACCAAA 0.378000 21 47 0 0 0.00152264 0 0 SPATA31D3 389762 broad.mit.edu 37 9 84562512 84562512 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:84562512C>T ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA AAAAAACCATCTCTTGCATGA 0.483000 16 22 0 0 0.000566183 0 0 P2RY13 53829 broad.mit.edu 37 3 151046404 151046404 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151046404C>T ENST00000325602.5 - 2 459 c.440G>A c.(439-441)aGa>aAa p.R147K MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 147 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) TCTCAAAGGTCTGATGATCTT 0.383000 8 30 0 0 0.000274275 0 0 SPEF2 79925 broad.mit.edu 37 5 35740274 35740274 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35740274G>A ENST00000440995.2 + 23 3220 c.3220G>A c.(3220-3222)Gat>Aat p.D1074N SPEF2_ENST00000356031.3_Missense_Mutation_p.D1079N|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1079 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCACAAGCAAGATTTTGTAGC 0.393000 25 59 0 0 0.000720815 0 0 PDK3 5165 broad.mit.edu 37 X 24523415 24523415 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:24523415G>A ENST00000441463.2 + 5 595 c.595_splice c.e5+1 p.D199_splice PDK3_ENST00000379162.4_Splice_Site_p.D199_splice NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 199 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGTGGTGAAAGGTAAGGAGAC 0.458000 22 13 0 0 0.000586117 0 0 MGAM 8972 broad.mit.edu 37 7 141727450 141727450 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141727450G>A ENST00000475668.2 + 10 1190 c.1136G>A c.(1135-1137)gGa>gAa p.G379E MGAM_ENST00000549489.2_Missense_Mutation_p.G379E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 379 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) TGGGCGCTTGGATTTCACCTC 0.438000 12 48 0 0 0.000422831 0 0 ETS2 2114 broad.mit.edu 37 21 40191503 40191503 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:40191503G>A ENST00000360214.3 + 9 1348 c.888G>A c.(886-888)tgG>tgA p.W296* ETS2_ENST00000360938.3_Nonsense_Mutation_p.W296* NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 296 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) TCCAGTCCTGGAACAGCCAGT 0.552000 10 16 0 0 0.000442599 0 0 LMO1 4004 broad.mit.edu 37 11 8248592 8248592 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:8248592C>T ENST00000335790.3 - 3 790 c.295G>A c.(295-297)Gag>Aag p.E99K LMO1_ENST00000428101.2_Missense_Mutation_p.E98K|LMO1_ENST00000534484.1_Missense_Mutation_p.E88K NM_002315.2 NP_002306.1 P25800 RBTN1_HUMAN LIM domain only 1 (rhombotin 1) 99 LIM zinc-binding 2. cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1) 5 Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203) ATCACCATCTCGAAGGCTGGG 0.617000 """T, A""" TRD@ """T-ALL, neuroblastoma""" neuroblastoma 5 23 0 0 0.000602214 0 0 CSF3R 1441 broad.mit.edu 37 1 36941239 36941239 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:36941239G>A ENST00000373103.1 - 4 647 c.100C>T c.(100-102)Ccc>Tcc p.P34S CSF3R_ENST00000440588.2_Missense_Mutation_p.P34S|CSF3R_ENST00000373106.1_Missense_Mutation_p.P34S|CSF3R_ENST00000418048.2_Missense_Mutation_p.P34S|CSF3R_ENST00000331941.5_Missense_Mutation_p.P34S|CSF3R_ENST00000361632.4_Missense_Mutation_p.P34S|CSF3R_ENST00000373104.1_Missense_Mutation_p.P34S|CSF3R_ENST00000338937.5_Missense_Mutation_p.P34S NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 34 Ig-like C2-type. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGGACGATGGGGGCTGAGACA 0.602000 14 17 0 0 0.000958276 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451713 37451713 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:37451713G>A ENST00000374660.1 + 17 1870 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E591K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E591K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 647 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCCTGCCACTGAAATGCAAAA 0.303000 49 90 0 0 0.000781405 0 0 CD164L2 388611 broad.mit.edu 37 1 27706567 27706567 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27706567C>T ENST00000374027.3 - 5 555 c.492G>A c.(490-492)aaG>aaA p.K164K CD164L2_ENST00000374030.1_Silent_p.K164K NM_207397.2 NP_997280.1 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 164 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGTCCTTGGCCTTGAGGAAGT 0.602000 52 60 0 0 0.000781405 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903710 20903710 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:20903710G>A ENST00000381552.1 + 14 2268 c.1900G>A c.(1900-1902)Gat>Aat p.D634N SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D634N|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D634N|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D585N|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D516N Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 634 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CAGATTATATGATTCAAATGT 0.393000 18 43 0 0 0.000566183 0 0 VIPR2 7434 broad.mit.edu 37 7 158829505 158829505 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:158829505G>A ENST00000262178.2 - 7 871 c.686C>T c.(685-687)aCc>aTc p.T229I VIPR2_ENST00000402066.1_Missense_Mutation_p.T370I|VIPR2_ENST00000377633.3_Missense_Mutation_p.T213I NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 229 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CACCAGGAGGGTGTGGAGGTA 0.612000 8 14 0 0 0.000157383 0 0 CD177 57126 broad.mit.edu 37 19 43858083 43858083 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43858083C>T ENST00000378009.4 + 0 173 CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CAATGGACCCCTAAGAACACC 0.622000 24 34 0 0 0.00047179 0 0 CNR1 1268 broad.mit.edu 37 6 88854839 88854839 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:88854839G>A ENST00000537554.1 - 2 3717 c.155C>T c.(154-156)tCc>tTc p.S52F CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369501.2_Missense_Mutation_p.S52F|CNR1_ENST00000549890.1_Missense_Mutation_p.S52F|CNR1_ENST00000535130.1_Missense_Mutation_p.S52F|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000428600.2_Missense_Mutation_p.S52F|CNR1_ENST00000369499.2_Missense_Mutation_p.S52F|CNR1_ENST00000362094.5_Intron NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 52 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCCCCTAAAGGAAGTTAAAGG 0.468000 11 33 0 0 0.000978159 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823739 38823739 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38823739C>T ENST00000303592.3 - 2 657 c.399G>A c.(397-399)acG>acA p.T133T NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 133 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) AGCCGATGGTCGTCTGCGTCT 0.657000 20 60 0 0 0.000586117 0 0 KRT1 3848 broad.mit.edu 37 12 53069116 53069116 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53069116G>A ENST00000252244.3 - 9 1854 c.1796C>T c.(1795-1797)tCt>tTt p.S599F NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 599 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 CCGgccgccagagctgccgcc 0.711000 10 11 0 0 0.00185496 0 0 HDAC9 9734 broad.mit.edu 37 7 18801810 18801810 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:18801810G>A ENST00000406451.3 + 15 2215 c.2065G>A c.(2065-2067)Gaa>Aaa p.E689K HDAC9_ENST00000432645.2_Missense_Mutation_p.E689K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E648K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E692K NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 689 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.E692*(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CAGCCTGGAGGAAATACAGCT 0.483000 10 26 0 0 0.000978159 0 0 OR5F1 338674 broad.mit.edu 37 11 55761238 55761238 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55761238C>T ENST00000278409.1 - 1 863 c.864G>A c.(862-864)ctG>ctA p.L288L NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GGCTGTAGATCAGAGGATTCA 0.433000 18 27 0 0 0.00074312 0 0 UBBP4 23666 broad.mit.edu 37 17 21731223 21731223 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:21731223C>T ENST00000584755.1 + 2 922 c.525C>T c.(523-525)atC>atT p.I175I UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTGACACCATCGAAAATGTGA 0.547000 21 26 0 0 0.00047179 0 0 CTCF 10664 broad.mit.edu 37 16 67662404 67662404 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:67662404C>T ENST00000264010.4 + 9 2094 c.1650C>T c.(1648-1650)ttC>ttT p.F550F CTCF_ENST00000401394.1_Silent_p.F222F NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 550 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) ACCCCAACTTCGTCCCTGCGG 0.502000 42 88 0 0 0.000781405 0 0 KAT6B 23522 broad.mit.edu 37 10 76790158 76790158 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:76790158T>A ENST00000287239.4 + 18 6065 c.5576T>A c.(5575-5577)gTt>gAt p.V1859D KAT6B_ENST00000372711.1_Missense_Mutation_p.V1676D|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1567D|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1567D|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1567D NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1859 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding ACAGGGCTTGTTCAACTTTCT 0.517000 37 37 0 0 0.00222228 0 0 AOC4P 90586 broad.mit.edu 37 17 41020194 41020194 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:41020194C>T ENST00000585538.1 + 0 1033 NR_002773.1 GGGTCCTGGTCCCTGAAGTCC 0.652000 5 8 0 0 0.00116845 0 0 OTOA 146183 broad.mit.edu 37 16 21698771 21698771 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21698771G>A ENST00000388958.3 + 7 438 c.437G>A c.(436-438)cGa>cAa p.R146Q OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 146 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GGAGAGATTCGAGAACGAGCC 0.522000 31 67 0 0 0.00170553 0 0 CDH10 1008 broad.mit.edu 37 5 24488091 24488091 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:24488091T>C ENST00000264463.4 - 12 2555 c.2048A>G c.(2047-2049)gAa>gGa p.E683G CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 683 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GAGCTTTTTTTCCTCAATGGC 0.478000 HNSCC(23;0.051) 26 47 0 0 0.00106085 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43945674 43945674 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:43945674G>A ENST00000389420.3 - 1 50 c.51C>T c.(49-51)ttC>ttT p.F17F ADAMTS20_ENST00000553158.1_Silent_p.F17F NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 17 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) ACCTGGTGATGAAGAGCGAGA 0.652000 16 40 0 0 0.00074312 0 0 IFT140 9742 broad.mit.edu 37 16 1573895 1573895 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:1573895G>A ENST00000426508.2 - 25 3567 c.3204C>T c.(3202-3204)atC>atT p.I1068I IFT140_ENST00000361339.5_Silent_p.I262I NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 1068 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) GGGCCGCCTCGATCATGTCCT 0.667000 11 26 0 0 0.00185496 0 0 MYH2 4620 broad.mit.edu 37 17 10440997 10440997 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10440997G>A ENST00000245503.5 - 15 1956 c.1572C>T c.(1570-1572)atC>atT p.I524I CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.I524I|MYH2_ENST00000397183.2_Silent_p.I524I|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 524 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CGATGAGCTCGATGCAGGCAG 0.433000 43 42 0 0 0.000781405 0 0 CFHR2 3080 broad.mit.edu 37 1 196928202 196928202 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:196928202G>A ENST00000367415.4 + 5 919 c.805G>A c.(805-807)Gaa>Aaa p.E269K CFHR2_ENST00000367421.3_Missense_Mutation_p.E269K NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 269 extracellular region large_intestine(2)|ovary(1)|skin(3) 6 CAGTTGTGAAGAAAAATAGAA 0.294000 15 35 0 0 0.000566183 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72520571 72520571 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:72520571C>T ENST00000373208.1 + 22 3643 c.3643C>T c.(3643-3645)Ccc>Tcc p.P1215S ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1212S NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1212 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCTGAGACATCCCGGCACCAG 0.642000 9 8 0 0 0.000673444 0 0 ZNF76 7629 broad.mit.edu 37 6 35259167 35259167 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:35259167C>T ENST00000373953.3 + 8 1004 c.738C>T c.(736-738)gtC>gtT p.V246V ZNF76_ENST00000339411.5_Silent_p.V246V|ZNF76_ENST00000440666.2_Silent_p.V220V NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 246 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 AGAAGCATGTCCGTACCCACA 0.567000 8 19 0 0 0.000274275 0 0 FSHR 2492 broad.mit.edu 37 2 49247283 49247283 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:49247283C>T ENST00000406846.2 - 3 360 c.241G>A c.(241-243)Gat>Aat p.D81N FSHR_ENST00000346173.3_Missense_Mutation_p.D81N|FSHR_ENST00000304421.4_Missense_Mutation_p.D81N NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 81 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCCAAGACATCATTCTGAGAG 0.408000 Gonadal Dysgenesis, 46 XX 83 213 0 0 0.000781405 0 0 IL2 3558 broad.mit.edu 37 4 123377456 123377456 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:123377456C>T ENST00000226730.4 - 1 424 c.140G>A c.(139-141)gGa>gAa p.G47E NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 47 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) TACATTAATTCCATTCAAAAT 0.308000 T TNFRSF17 intestinal T-cell lymphoma 10 27 0 0 0.000442599 0 0 PKHD1 5314 broad.mit.edu 37 6 51941127 51941127 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:51941127G>A ENST00000371117.3 - 6 670 c.395C>T c.(394-396)tCc>tTc p.S132F PKHD1_ENST00000340994.4_Missense_Mutation_p.S132F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 132 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) CTGCGCCTTGGAAAACTGTTT 0.393000 15 29 0 0 0.00074312 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32487313 32487313 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32487313C>T ENST00000374975.3 - 3 548 c.486G>A c.(484-486)cgG>cgA p.R162R NM_002125.3 NP_002116.2 Q30154 DRB5_HUMAN major histocompatibility complex, class II, DR beta 5 162 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 CCTGGCTGTTCCGGAACCACC 0.552000 23 189 0 0 0.00209593 0 0 ZNF785 146540 broad.mit.edu 37 16 30596534 30596534 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30596534C>T ENST00000395216.2 - 2 402 c.243G>A c.(241-243)gtG>gtA p.V81V ZNF785_ENST00000470110.1_Silent_p.V81V NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 81 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 CTTCTCCTTCCACCCACGAGA 0.592000 7 18 0 0 0.00198382 0 0 HCN3 57657 broad.mit.edu 37 1 155252280 155252280 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:155252280G>A ENST00000368358.3 + 2 365 c.357G>A c.(355-357)aaG>aaA p.K119K HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 119 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTTCTTCAAGGAGGAGAACT 0.537000 17 45 0 0 0.000958276 0 0 LLGL1 3996 broad.mit.edu 37 17 18140908 18140908 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:18140908C>T ENST00000316843.4 + 14 1821 c.1725C>T c.(1723-1725)agC>agT p.S575S NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 575 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) AGCGGCTGAGCCCACGCACGG 0.677000 9 8 0 0 0.000978159 0 0 FSIP1 161835 broad.mit.edu 37 15 40034077 40034077 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:40034077G>A ENST00000350221.3 - 6 793 c.584C>T c.(583-585)aCc>aTc p.T195I FSIP1_ENST00000559692.1_5'UTR NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 195 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) TGAGGAAAAGGTGTCTTCCTC 0.313000 17 11 0 0 0.00152264 0 0 RAB35 11021 broad.mit.edu 37 12 120536843 120536843 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:120536843G>A ENST00000229340.5 - 4 531 c.343C>T c.(343-345)Cga>Tga p.R115* RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Nonsense_Mutation_p.R115* NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 115 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) CCTAATATTCGGCACACATCA 0.597000 16 29 0 0 0.000566183 0 0 OR4C15 81309 broad.mit.edu 37 11 55322769 55322769 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55322769C>T ENST00000314644.2 + 1 987 c.987C>T c.(985-987)atC>atT p.I329I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 275 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 TATTTTATATCATCTTAAATC 0.378000 HNSCC(20;0.049) 38 46 0 0 0.00148497 0 0 TRPM6 140803 broad.mit.edu 37 9 77339583 77339583 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:77339583C>T ENST00000451710.3 - 38 6264 c.6027G>A c.(6025-6027)gaG>gaA p.E2009E TRPM6_ENST00000376871.3_Silent_p.E842E|TRPM6_ENST00000361255.3_Silent_p.E2000E|TRPM6_ENST00000360774.1_Silent_p.E2005E|TRPM6_ENST00000449912.2_Silent_p.E2000E|TRPM6_ENST00000376872.3_Silent_p.E960E Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 2005 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 TTGCTGGAGGCTCCTCAGCTG 0.438000 51 63 0 0 0.000781405 0 0 SLC29A3 55315 broad.mit.edu 37 10 73121932 73121932 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:73121932C>T ENST00000373189.5 + 6 1047 c.995C>T c.(994-996)tCc>tTc p.S332F SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 332 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 AACATCGAGTCCCTCAACAAG 0.567000 68 88 0 0 0.000781405 0 0 DDX4 54514 broad.mit.edu 37 5 55111156 55111156 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:55111156C>T ENST00000505374.1 + 21 2094 c.2002C>T c.(2002-2004)Cct>Tct p.P668S DDX4_ENST00000511853.1_Missense_Mutation_p.P519S|DDX4_ENST00000354991.5_Missense_Mutation_p.P634S|DDX4_ENST00000353507.5_Missense_Mutation_p.P634S|DDX4_ENST00000514278.2_Missense_Mutation_p.P648S NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 668 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ACAGGATGTTCCTGCATGGTT 0.343000 28 47 0 0 0.000878237 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90573247 90573247 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:90573247C>T ENST00000551025.1 + 0 3256 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GGCATATGTTCCCTCCATAAG 0.423000 6 11 0 0 0.000157383 0 0 SUGP2 10147 broad.mit.edu 37 19 19135663 19135663 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:19135663G>A ENST00000601879.1 - 3 1791 c.1494C>T c.(1492-1494)atC>atT p.I498I SUGP2_ENST00000452918.2_Silent_p.I498I|SUGP2_ENST00000456085.2_Silent_p.I267I|SUGP2_ENST00000600377.1_Silent_p.I512I|SUGP2_ENST00000337018.6_Silent_p.I498I Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 498 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CAGCTTCTAAGATTTTCTCCT 0.507000 37 93 0 0 0.00111076 0 0 THSD7B 80731 broad.mit.edu 37 2 138163223 138163223 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:138163223G>A ENST00000409968.1 + 13 2719 c.2541G>A c.(2539-2541)atG>atA p.M847I THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.M847I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M816I 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) CAGCAGAAATGATGGAATGCC 0.438000 15 35 0 0 0.00152264 0 0 HNF1B 6928 broad.mit.edu 37 17 36099523 36099523 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:36099523G>A ENST00000225893.4 - 2 813 c.452C>T c.(451-453)tCc>tTc p.S151F HNF1B_ENST00000427275.2_Missense_Mutation_p.S151F|HNF1B_ENST00000561193.1_Missense_Mutation_p.S151F|HNF1B_ENST00000560016.1_Missense_Mutation_p.S151F NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 151 S -> P (in RCAD). endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GAGATGCTGGGAGAGGTGCGA 0.557000 329 376 0 0 0.000781405 0 0 TRHDE 29953 broad.mit.edu 37 12 72771779 72771779 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:72771779G>A ENST00000261180.4 + 3 1154 c.1058G>A c.(1057-1059)cGa>cAa p.R353Q NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 353 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.R353Q(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 aattaGGTACGATTATATGCA 0.313000 15 29 0 0 0.00244969 0 0 IQCA1 79781 broad.mit.edu 37 2 237246975 237246975 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:237246975C>T ENST00000409907.3 - 17 2281 c.2007G>A c.(2005-2007)ctG>ctA p.L669L IQCA1_ENST00000431676.2_Silent_p.L628L|IQCA1_ENST00000309507.5_Silent_p.L666L Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 669 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CATCTGGTTTCAGGAGTTTCA 0.413000 22 63 0 0 0.000878237 0 0 A2ML1 144568 broad.mit.edu 37 12 8998761 8998761 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:8998761T>C ENST00000299698.7 + 14 1806 c.1626T>C c.(1624-1626)agT>agC p.S542S A2ML1_ENST00000539547.1_Silent_p.S51S|A2ML1_ENST00000540049.1_3'UTR NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 386 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTTTTCCCAGTGGAGGTGTTG 0.463000 37 67 0 0 0.000814825 0 0 AKAP6 9472 broad.mit.edu 37 14 33069899 33069899 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:33069899G>A ENST00000280979.4 + 7 2801 c.2631G>A c.(2629-2631)cgG>cgA p.R877R AKAP6_ENST00000557354.1_Silent_p.R877R|AKAP6_ENST00000557272.1_Silent_p.R877R NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 877 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAATCAAACGGCAGCACAGCT 0.532000 22 24 0 0 0.00047179 0 0 CTNND2 1501 broad.mit.edu 37 5 11565081 11565081 + Missense_Mutation SNP C C T rs139706540 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:11565081C>T ENST00000304623.8 - 3 451 c.262G>A c.(262-264)Gag>Aag p.E88K CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E88K|CTNND2_ENST00000503622.1_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 88 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 CTGCCAGTCTCGGATCCGAGC 0.527000 9 23 0 0 0.000442599 0 0 PPL 5493 broad.mit.edu 37 16 4935273 4935273 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:4935273C>T ENST00000345988.2 - 22 3472 c.3383G>A c.(3382-3384)aGg>aAg p.R1128K PPL_ENST00000590782.2_Missense_Mutation_p.R1126K NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1128 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCTGACCTCCCTCTCGGTGGC 0.617000 10 22 0 0 0.000442599 0 0 ALG5 29880 broad.mit.edu 37 13 37573378 37573378 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:37573378G>A ENST00000239891.3 - 1 126 c.60C>T c.(58-60)ctC>ctT p.L20L ALG5_ENST00000443765.1_Silent_p.L20L|ALG5_ENST00000413537.2_Silent_p.L20L|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000496689.1_Intron NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 20 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TCACCAGTACGAGGGCTGCGG 0.697000 12 18 0 0 0.000308642 0 0 AMPD3 272 broad.mit.edu 37 11 10516551 10516551 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:10516551G>A ENST00000444303.2 + 7 1235 c.763G>A c.(763-765)Gga>Aga p.G255R AMPD3_ENST00000396554.3_Missense_Mutation_p.G423R NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 414 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) CTATCTGGGAGGAGAGTACTT 0.532000 35 101 0 0 0.00170553 0 0 RYR2 6262 broad.mit.edu 37 1 237777442 237777442 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:237777442G>A ENST00000366574.2 + 37 5331 c.5014G>A c.(5014-5016)Gtg>Atg p.V1672M RYR2_ENST00000542537.1_Missense_Mutation_p.V1656M|RYR2_ENST00000360064.6_Missense_Mutation_p.V1670M NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1672 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) GAACCACCGGGTGGCCCATGC 0.522000 14 33 0 0 0.000422831 0 0 PSD3 23362 broad.mit.edu 37 8 18729234 18729234 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:18729234G>A ENST00000440756.2 - 3 1242 c.1140C>T c.(1138-1140)tcC>tcT p.S380S PSD3_ENST00000327040.8_Silent_p.S380S|PSD3_ENST00000523619.1_Silent_p.S315S Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 380 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GACGCACAGGGGAAAATGTCC 0.468000 16 31 0 0 0.000566183 0 0 TRAV5 28688 broad.mit.edu 37 14 22217917 22217917 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:22217917G>A ENST00000390427.3 + 0 280 GAATAAAAAGGATAAACATCT 0.433000 17 28 0 0 0.00074312 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879626 39879626 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:39879626C>T ENST00000530275.1 + 1 3476 c.3281C>T c.(3280-3282)tCc>tTc p.S1094F MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 1094 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) GAGCCTGCCTCCCTAGCAGCT 0.647000 3 10 0 0 6.4e-05 0 0 NRXN2 9379 broad.mit.edu 37 11 64416209 64416209 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64416209C>T ENST00000265459.6 - 16 3741 c.3280G>A c.(3280-3282)Gat>Aat p.D1094N NRXN2_ENST00000377559.3_Missense_Mutation_p.D1054N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D1094N|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.D1087N NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1094 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CACTCACCATCACAGCCCCTC 0.647000 17 15 0 0 0.000958276 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673292 141673292 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 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 28 77 0 0 0.00106085 0 0 MUC16 94025 broad.mit.edu 37 19 9073481 9073481 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9073481G>A ENST00000397910.4 - 3 14168 c.13965C>T c.(13963-13965)ttC>ttT p.F4655F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4657 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 AAATATCTGGGAACTTTGTTG 0.463000 29 61 0 0 0.00178596 0 0 KCTD3 51133 broad.mit.edu 37 1 215777493 215777493 + Silent SNP C C T rs138597417 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:215777493C>T ENST00000259154.4 + 13 1452 c.1158C>T c.(1156-1158)atC>atT p.I386I NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 386 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GTAACTGGATCGAGATCGCCT 0.443000 15 47 0 0 0.00074312 0 0 ADAM7 8756 broad.mit.edu 37 8 24342819 24342819 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24342819G>A ENST00000175238.6 + 10 988 c.905G>A c.(904-906)gGa>gAa p.G302E RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G74E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G302E NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 302 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G302E(2) 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) CATGTGCAAGGAATTTCTTAT 0.343000 22 89 0 0 0.000878237 0 0 SDK2 54549 broad.mit.edu 37 17 71348736 71348736 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:71348736C>T ENST00000392650.3 - 41 5634 c.5634G>A c.(5632-5634)aaG>aaA p.K1878K SDK2_ENST00000388726.3_Silent_p.K1859K|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1878 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGCTCACCTCCTTGGGGATGT 0.597000 14 38 0 0 0.000422831 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308473 205308473 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205308473C>T ENST00000367156.3 - 7 1422 c.606G>A c.(604-606)tgG>tgA p.W202* KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.W202*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.W68*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.W202*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.W89* NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 202 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) GAAACTTGGTCCAGGAGCGAG 0.582000 7 16 0 0 0.000274275 0 0 PNMA5 114824 broad.mit.edu 37 X 152159968 152159968 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:152159968C>T ENST00000439251.1 - 2 613 c.175G>A c.(175-177)Gaa>Aaa p.E59K PNMA5_ENST00000452693.1_Missense_Mutation_p.E59K|PNMA5_ENST00000535214.1_Missense_Mutation_p.E59K|PNMA5_ENST00000361887.5_Missense_Mutation_p.E59K NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 59 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) gcattgtcttccctcctgaac 0.527000 44 15 0 0 0.0025221 0 0 MKS1 54903 broad.mit.edu 37 17 56293523 56293523 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:56293523C>T ENST00000393119.2 - 4 417 c.343G>A c.(343-345)Gag>Aag p.E115K MKS1_ENST00000313863.6_Missense_Mutation_p.E115K|MKS1_ENST00000537529.2_Missense_Mutation_p.E105K|MKS1_ENST00000337050.7_Missense_Mutation_p.E115K|MKS1_ENST00000546108.1_5'UTR NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 115 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCCGAATTCTCCAGCTTCAGG 0.428000 31 107 0 0 0.0024448 0 0 SPTAN1 6709 broad.mit.edu 37 9 131353854 131353854 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131353854C>T ENST00000372739.3 + 22 3215 c.3105C>T c.(3103-3105)ctC>ctT p.L1035L SPTAN1_ENST00000358161.5_Silent_p.L1035L|SPTAN1_ENST00000372731.4_Silent_p.L1035L NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1035 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGGAGAATCTCCTGGAGGAGC 0.572000 49 83 0 0 0.000781405 0 0 MCU 90550 broad.mit.edu 37 10 74631160 74631160 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:74631160C>T ENST00000536019.1 + 6 981 c.536C>T c.(535-537)gCt>gTt p.A179V MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.A228V|MCU_ENST00000357157.6_Missense_Mutation_p.A207V NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 228 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 AGCAGAAAAGCTGAGAAGAGG 0.448000 71 84 0 0 0.000781405 0 0 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168100111G>A ENST00000409195.1 + 9 2298 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E737K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E515K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 562 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 AAAATGTTTCGAAACTCAACC 0.373000 24 31 0 0 0.00229938 0 0 DSG2 1829 broad.mit.edu 37 18 29102112 29102112 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:29102112C>T ENST00000261590.8 + 6 799 c.590C>T c.(589-591)tCc>tTc p.S197F DSG2_ENST00000585206.1_Missense_Mutation_p.S197F NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 197 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TCGAAAATTTCCTATAGAATC 0.378000 19 34 0 0 0.00152264 0 0 LMBRD1 55788 broad.mit.edu 37 6 70408946 70408946 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:70408946A>G ENST00000370577.3 - 13 1556 c.1327T>C c.(1327-1329)Tac>Cac p.Y443H LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y370H NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 443 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TCTATTAAGTAATTTTGGCTT 0.289000 15 43 0 0 0.00074312 0 0 CTR9 9646 broad.mit.edu 37 11 10797129 10797129 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:10797129C>T ENST00000361367.2 + 24 3470 c.3044C>T c.(3043-3045)tCa>tTa p.S1015L NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 1015 Ser-rich. 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) GCCATAATTTCATCAAGTGAT 0.343000 8 16 0 0 0.000157383 0 0 GJA10 84694 broad.mit.edu 37 6 90605712 90605712 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:90605712G>A ENST00000369352.1 + 1 1525 c.1525G>A c.(1525-1527)Ggg>Agg p.G509R NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 509 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CTTTCTTCCTGGGGTGTGTAT 0.403000 16 53 0 0 0.000422831 0 0 RIMS1 22999 broad.mit.edu 37 6 72889377 72889377 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:72889377G>A ENST00000264839.7 + 5 571 c.571G>A c.(571-573)Gga>Aga p.G191R RIMS1_ENST00000348717.5_Missense_Mutation_p.G191R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G191R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G191R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G191R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G191R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G191R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G191R Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 191 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) AAGTCAGGATGGAACCCTGAG 0.493000 13 36 0 0 0.000308642 0 0 AHNAK 79026 broad.mit.edu 37 11 62299704 62299704 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:62299704G>A ENST00000378024.4 - 5 2459 c.2185C>T c.(2185-2187)Cca>Tca p.P729S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 729 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) TCCACTTTTGGGCCTTTGAGT 0.468000 89 106 0 0 0.000781405 0 0 ADAM28 10863 broad.mit.edu 37 8 24201064 24201064 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24201064C>T ENST00000265769.4 + 18 2067 c.1957C>T c.(1957-1959)Cct>Tct p.P653S RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.P400S|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 653 EGF-like. 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) AGGATGGATCCCTCCCGACTG 0.483000 13 35 0 0 0.000422831 0 0 C8orf37 157657 broad.mit.edu 37 8 96259868 96259868 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:96259868G>A ENST00000286688.5 - 6 612 c.601C>T c.(601-603)Cgc>Tgc p.R201C NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 201 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) CAAACCCAGCGAAGCTGATGA 0.433000 165 360 0 0 0.000781405 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032418 142032418 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142032418C>T ENST00000547918.2 + 0 271 ATCGGGGCTTCCCCGTGATCG 0.552000 10 12 0 0 0.000442599 0 0 KRT13 3860 broad.mit.edu 37 17 39659251 39659251 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39659251C>T ENST00000246635.3 - 4 881 c.835G>A c.(835-837)Gag>Aag p.E279K KRT13_ENST00000587544.1_Missense_Mutation_p.E279K|KRT13_ENST00000336861.3_Missense_Mutation_p.E279K NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 279 Coil 2.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) TCGTACTGCTCCCTCATCTCT 0.602000 104 134 0 0 0.000781405 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:11058353T>C ENST00000470054.1 - 0 324 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) GAAATCTCTTTATAAAACCTT 0.343000 5 92 0 0 0.000602214 0 0 RANBP2 5903 broad.mit.edu 37 2 109371668 109371668 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:109371668C>T ENST00000283195.6 + 17 2545 c.2419C>T c.(2419-2421)Cag>Tag p.Q807* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 807 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GGCAGAAGATCAGAATTCTTT 0.328000 84 248 0 0 0.000781405 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226541 152226541 + Silent SNP G G A rs144393744 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:152226541G>A ENST00000243347.3 + 4 477 c.402G>A c.(400-402)gaG>gaA p.E134E NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 134 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) CAGCAAAGGAGTGTGGTGGCG 0.358000 18 57 0 0 0.00152264 0 0 JADE2 23338 broad.mit.edu 37 5 133895527 133895527 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:133895527C>T ENST00000395003.1 + 5 498 c.319C>T c.(319-321)Cca>Tca p.P107S PHF15_ENST00000282605.4_Missense_Mutation_p.P107S|PHF15_ENST00000361895.2_Missense_Mutation_p.P107S|PHF15_ENST00000402835.1_Missense_Mutation_p.P107S NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 107 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TAGGATCCTCCCACCACTGGA 0.637000 4 25 0 0 0.000602214 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997691 19997691 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:19997691G>A ENST00000391403.2 - 1 187 c.84C>T c.(82-84)ttC>ttT p.F28F NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 28 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) TTCTCCACAAGAAGAGAACAG 0.413000 13 32 0 0 0.00136819 0 0 SLC5A9 200010 broad.mit.edu 37 1 48697256 48697256 + Missense_Mutation SNP C C G rs147266128 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:48697256C>G ENST00000236495.5 + 7 775 c.725C>G c.(724-726)aCg>aGg p.T242R SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Missense_Mutation_p.T238R|SLC5A9_ENST00000438567.2_Missense_Mutation_p.T217R NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 217 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 GCTCTGCAGACGGTGATCATG 0.542000 14 13 0 0 0.00074312 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21940530 21940530 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:21940530G>A ENST00000542643.2 - 9 646 c.344C>T c.(343-345)tCa>tTa p.S115L RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S146L|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S115L|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S115L|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S179L NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 115 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GTACTTGAGTGAGAAGACAAG 0.607000 5 5 0 0 0.00116845 0 0 MECOM 2122 broad.mit.edu 37 3 168810796 168810796 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:168810796G>A ENST00000464456.1 - 12 3723 c.2523C>T c.(2521-2523)ttC>ttT p.F841F MECOM_ENST00000433243.2_Silent_p.F851F|MECOM_ENST00000472280.1_Silent_p.F851F|MECOM_ENST00000468789.1_Silent_p.F850F|MECOM_ENST00000392736.3_Silent_p.F850F|MECOM_ENST00000494292.1_Silent_p.F1029F|MECOM_ENST00000460814.1_Silent_p.F841F|MECOM_ENST00000264674.3_Silent_p.F915F NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGTTCCCAATGAAATTTCGAA 0.433000 34 69 0 0 0.000692331 0 0 C2orf16 84226 broad.mit.edu 37 2 27802554 27802554 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:27802554G>A ENST00000408964.2 + 1 3166 c.3115G>A c.(3115-3117)Gat>Aat p.D1039N NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1039 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) CATATTTTACGATAGAGAAGA 0.453000 49 81 0 0 0.000781405 0 0 CENPQ 55166 broad.mit.edu 37 6 49459879 49459879 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:49459879C>T ENST00000335783.3 + 9 792 c.698C>T c.(697-699)cCa>cTa p.P233L NM_018132.3 NP_060602.2 Q7L2Z9 CENPQ_HUMAN centromere protein Q 233 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1) 11 Lung NSC(77;0.0128) GCGCTAATTCCAAACCAGAAT 0.328000 13 29 0 0 0.000422831 0 0 MUC17 140453 broad.mit.edu 37 7 100692607 100692607 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100692607G>A ENST00000306151.4 + 6 12730 c.12666G>A c.(12664-12666)atG>atA p.M4222I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4222 SEA. 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) CCTTTCAGATGAATATTGTGT 0.577000 32 117 0 0 0.000814825 0 0 KCNS2 3788 broad.mit.edu 37 8 99441541 99441541 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:99441541G>A ENST00000287042.4 + 2 1684 c.1334G>A c.(1333-1335)aGg>aAg p.R445K KCNS2_ENST00000521839.1_Missense_Mutation_p.R445K NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 445 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GTCAATTTAAGGGACTATTAT 0.463000 34 61 0 0 0.000814825 0 0 WRNIP1 56897 broad.mit.edu 37 6 2779538 2779538 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:2779538C>T ENST00000380769.4 + 4 869 c.638C>T c.(637-639)gCt>gTt p.A213V WRNIP1_ENST00000380764.1_Missense_Mutation_p.A49V|WRNIP1_ENST00000380771.4_Missense_Mutation_p.A408V|WRNIP1_ENST00000380773.4_Missense_Mutation_p.A433V Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 433 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) GACACCCTGGCTTACCTCAGT 0.532000 19 82 0 0 0.00047179 0 0 CNTN3 5067 broad.mit.edu 37 3 74350890 74350890 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:74350890C>T ENST00000263665.6 - 14 1880 c.1853G>A c.(1852-1854)tGg>tAg p.W618* NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 618 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACCTTCTTTCCAAGAGAGTTG 0.453000 16 47 0 0 0.000958276 0 0 NACAP1 83955 broad.mit.edu 37 8 102381355 102381355 + RNA SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:102381355A>T ENST00000419462.1 + 0 767 NR_002182.1 CGGAGTGAAAAGAAGGCACGG 0.463000 25 86 0 0 0.000878237 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100004371 100004371 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100004371G>A ENST00000398027.2 - 12 1363 c.1116C>T c.(1114-1116)atC>atT p.I372I ZCWPW1_ENST00000324725.6_Silent_p.I252I|ZCWPW1_ENST00000360951.4_Silent_p.I373I|ZCWPW1_ENST00000490721.1_Silent_p.I252I NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 372 PWWP. zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGTTGACTGGGATCCATGCAC 0.448000 19 61 0 0 0.00152264 0 0 SI 6476 broad.mit.edu 37 3 164767579 164767579 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:164767579C>T ENST00000264382.3 - 14 1659 c.1597_splice c.e14+1 p.D533_splice NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 533 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) TAAATTTTACCAGGAGTAAAC 0.264000 HNSCC(35;0.089) 28 61 0 0 0.00106085 0 0 TNFSF14 8740 broad.mit.edu 37 19 6667151 6667151 + Nonsense_Mutation SNP C C A rs143854617 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6667151C>A ENST00000326176.9 - 4 544 c.163G>T c.(163-165)Gag>Tag p.E55* TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.E91*|TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.E55* NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 91 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding p.E91*(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 GGGTTGACCTCGTGAGACCTT 0.587000 11 48 5.50884e-06 2.13894e-05 0.00136819 1 0 HERC2 8924 broad.mit.edu 37 15 28436199 28436199 + Missense_Mutation SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:28436199C>G ENST00000261609.7 - 55 8669 c.8561G>C c.(8560-8562)gGa>gCa p.G2854A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2854 DOC. 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) CAGGGAATTTCCACCTAGGAA 0.368000 10 19 0 0 0.000442599 0 0 FAT2 2196 broad.mit.edu 37 5 150911369 150911369 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:150911369G>A ENST00000261800.5 - 13 9602 c.9590C>T c.(9589-9591)cCg>cTg p.P3197L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3197 Cadherin 28. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGTGGACAGCGGTATTGGGGT 0.667000 26 51 0 0 0.000692331 0 0 AKAP6 9472 broad.mit.edu 37 14 33293360 33293360 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:33293360C>T ENST00000280979.4 + 13 6511 c.6341C>T c.(6340-6342)tCt>tTt p.S2114F AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2114 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCGTACTTATCTCTCTCATCT 0.463000 29 30 0 0 0.001512 0 0 OR6B1 135946 broad.mit.edu 37 7 143701246 143701246 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143701246C>T ENST00000408922.2 + 1 225 c.157C>T c.(157-159)Cgg>Tgg p.R53W NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) GCTGCAAAATCGGCCACTGCA 0.473000 16 38 0 0 0.000308642 0 0 THSD7B 80731 broad.mit.edu 37 2 138414466 138414466 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:138414466G>A ENST00000409968.1 + 23 4384 c.4206G>A c.(4204-4206)agG>agA p.R1402R THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.R1405R|THSD7B_ENST00000413152.2_Silent_p.R1374R 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) CTAGATCAAGGACTTTTATAA 0.448000 47 76 0 0 0.000781405 0 0 COX10 1352 broad.mit.edu 37 17 14110257 14110257 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:14110257C>T ENST00000261643.3 + 7 1136 c.1059C>T c.(1057-1059)tgC>tgT p.C353C COX10_ENST00000537334.1_Silent_p.C136C|COX10_ENST00000536205.1_Silent_p.C161C NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 353 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CGGGCCTGTGCCGGCGCGTGG 0.667000 18 16 0 0 0.00152264 0 0 SEC16B 89866 broad.mit.edu 37 1 177911163 177911163 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:177911163G>A ENST00000308284.6 - 16 1983 c.1894C>T c.(1894-1896)Ctt>Ttt p.L632F 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) 632 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 GAAGCATAAAGGAGCTTATAC 0.493000 5 14 0 0 0.000602214 0 0 RAB6C 84084 broad.mit.edu 37 2 130738127 130738127 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:130738127G>A ENST00000410061.2 + 1 893 c.439G>A c.(439-441)Ggg>Agg p.G147R NM_032144.2 NP_115520.2 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 147 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 5 Colorectal(110;0.1) GAAAGCCAAAGGGCTGAATGT 0.453000 56 143 0 0 0.000781405 0 0 NKAPL 222698 broad.mit.edu 37 6 28227361 28227361 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:28227361C>T ENST00000343684.3 + 1 264 c.212C>T c.(211-213)tCg>tTg p.S71L NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 71 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CGCTCTGGGTCGCGAGGGCGG 0.607000 18 59 0 0 0.00074312 0 0 SUSD2 56241 broad.mit.edu 37 22 24579559 24579559 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:24579559C>T ENST00000358321.3 + 3 645 c.384C>T c.(382-384)ttC>ttT p.F128F NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 128 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 GCATCCCCTTCACTGTGTCAC 0.637000 18 35 0 0 0.00074312 0 0 GLT1D1 144423 broad.mit.edu 37 12 129442178 129442178 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:129442178C>T ENST00000442111.2 + 11 957 c.869C>T c.(868-870)tCc>tTc p.S290F GLT1D1_ENST00000281703.6_Missense_Mutation_p.S210F|GLT1D1_ENST00000537468.1_Missense_Mutation_p.S295F|GLT1D1_ENST00000542193.1_Missense_Mutation_p.S207F Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 290 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CTACTGTTTTCCAATCCTCAG 0.448000 7 20 0 0 0.000157383 0 0 MYH13 8735 broad.mit.edu 37 17 10248823 10248823 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10248823G>A ENST00000418404.3 - 13 1537 c.1374C>T c.(1372-1374)ttC>ttT p.F458F MYH13_ENST00000252172.4_Silent_p.F458F|MYH13_ENST00000570743.1_Silent_p.F458F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 458 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGACCCCGATGAAGTACTGCC 0.512000 46 45 0 0 0.000781405 0 0 ZHX2 22882 broad.mit.edu 37 8 123966097 123966097 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:123966097G>A ENST00000314393.4 + 3 3182 c.2347G>A c.(2347-2349)Gac>Aac p.D783N NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 783 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CCAGGGTAGCGACGAGAACGA 0.602000 7 15 0 0 0.00198382 0 0 CCDC146 57639 broad.mit.edu 37 7 76908345 76908345 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:76908345G>A ENST00000285871.4 + 13 1748 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K CCDC146_ENST00000431197.1_Missense_Mutation_p.E255K|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 541 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GAAAGTAAATGAAATAAAAGA 0.308000 15 35 0 0 0.000422831 0 0 SERPINA1 5265 broad.mit.edu 37 14 94845793 94845793 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:94845793G>A ENST00000402629.1 - 4 1106 c.1073C>T c.(1072-1074)tCa>tTa p.S358L SERPINA1_ENST00000393088.4_Intron|SERPINA1_ENST00000440909.1_Intron|SERPINA1_ENST00000404814.4_Intron|SERPINA1_ENST00000449399.3_Intron|SERPINA1_ENST00000448921.1_Intron|SERPINA1_ENST00000393087.4_Intron|SERPINA1_ENST00000437397.1_Intron|SERPINA1_ENST00000355814.4_Intron P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 0 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TCGTCAGGGTGATCTCACCTT 0.582000 24 34 0 0 0.000586117 0 0 PDE1C 5137 broad.mit.edu 37 7 32109955 32109955 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:32109955T>A ENST00000396184.3 - 2 255 c.51A>T c.(49-51)aaA>aaT p.K17N PDE1C_ENST00000396182.2_Missense_Mutation_p.K17N|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.K17N|PDE1C_ENST00000396191.1_Missense_Mutation_p.K17N NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 17 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) GTTGCAGGTATTTCAGAGAGT 0.507000 35 65 0 0 0.00148497 0 0 HNF1A 6927 broad.mit.edu 37 12 121416709 121416709 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:121416709G>A ENST00000257555.6 + 1 364 c.138G>A c.(136-138)aaG>aaA p.K46K HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000544413.1_Silent_p.K46K|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000402929.1_Silent_p.K46K|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000400024.2_Silent_p.K46K|HNF1A_ENST00000541395.1_Silent_p.K46K|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000543427.1_Intron P20823 HNF1A_HUMAN HNF1 homeobox A 46 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.D45fs*9(1)|p.D45fs*102(1)|p.Y36fs*107(1)|p.?(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCTGGACAAGGGGGAGTCCT 0.697000 Hepatic Adenoma, Familial Clustering of 63 139 0 0 0.000781405 0 0 TLL2 7093 broad.mit.edu 37 10 98205860 98205860 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:98205860C>T ENST00000357947.3 - 3 577 c.352G>A c.(352-354)Gaa>Aaa p.E118K TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 118 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TTTCCAGCTTCCTTGGTGCCA 0.483000 44 50 0 0 0.000781405 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21069035 21069035 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21069035G>A ENST00000381545.3 + 16 2182 c.1963G>A c.(1963-1965)Gat>Aat p.D655N LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D655N NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 655 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) TCAAGGAAAAGATACCAAGGC 0.333000 16 47 0 0 0.000422831 0 0 FGF13 2258 broad.mit.edu 37 X 137715134 137715134 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:137715134C>T ENST00000315930.6 - 5 1276 c.615G>A c.(613-615)aaG>aaA p.K205K FGF13_ENST00000305414.4_Silent_p.K152K|FGF13_ENST00000370603.3_Silent_p.K215K|FGF13_ENST00000541469.1_Silent_p.K159K|FGF13_ENST00000441825.2_Silent_p.K186K NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 205 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GTGATGGCTCCTTGTACATGG 0.478000 18 10 0 0 0.00121646 0 0 DNAH10 196385 broad.mit.edu 37 12 124350521 124350521 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:124350521C>T ENST00000409039.3 + 40 6739 c.6714C>T c.(6712-6714)tcC>tcT p.S2238S NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2238 AAA 2 (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) AGTATGCCTCCCCTGCAACTG 0.363000 27 72 0 0 0.0024448 0 0 CRAT 1384 broad.mit.edu 37 9 131870247 131870247 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131870247G>A ENST00000318080.2 - 2 431 c.137C>T c.(136-138)tCc>tTc p.S46F CRAT_ENST00000464290.1_5'UTR|CRAT_ENST00000393384.3_Missense_Mutation_p.S46F NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 46 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GTGGTCCAGGGACTGCTGGAG 0.622000 10 60 0 0 0.000442599 0 0 PCDH17 27253 broad.mit.edu 37 13 58207409 58207409 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:58207409C>T ENST00000377918.3 + 1 755 c.729C>T c.(727-729)ttC>ttT p.F243F NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 243 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GCCCGGTCTTCGAGGCGCCAT 0.612000 20 61 0 0 0.000958276 0 0 TGFBR3 7049 broad.mit.edu 37 1 92262983 92262983 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:92262983G>A ENST00000212355.4 - 3 572 c.107C>T c.(106-108)tCc>tTc p.S36F TGFBR3_ENST00000525962.1_Missense_Mutation_p.S36F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S36F NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 36 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) GACAGGATGGGAGGCACTGAC 0.547000 30 78 0 0 0.00283554 0 0 ALS2 57679 broad.mit.edu 37 2 202622460 202622460 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:202622460G>A ENST00000264276.6 - 5 1508 c.1136C>T c.(1135-1137)cCt>cTt p.P379L NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 379 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 GTGGAGATTAGGAATTGCTTC 0.393000 11 36 0 0 0.00136819 0 0 SPTA1 6708 broad.mit.edu 37 1 158597434 158597434 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158597434C>T ENST00000368148.3 - 40 5825 c.5645G>A c.(5644-5646)gGa>gAa p.G1882E SPTA1_ENST00000368147.3_Missense_Mutation_p.G1882E|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1882 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) GATGTCTTCTCCTTGTGCACA 0.418000 26 67 0 0 0.00106085 0 0 MEPE 56955 broad.mit.edu 37 4 88767097 88767097 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:88767097T>C ENST00000497649.2 + 6 1383 c.1005T>C c.(1003-1005)gaT>gaC p.D335D MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000361056.3_Silent_p.D359D|MEPE_ENST00000560249.1_Silent_p.D246D|MEPE_ENST00000424957.3_Silent_p.D359D|MEPE_ENST00000395102.4_Silent_p.D390D|MEPE_ENST00000540395.1_Silent_p.D246D Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 359 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) ACAGAGTGGATGCTGGCAGCC 0.473000 12 31 0 0 0.00185496 0 0 INSC 387755 broad.mit.edu 37 11 15257208 15257208 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:15257208G>A ENST00000379554.3 + 10 1418 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K INSC_ENST00000530161.1_Missense_Mutation_p.E411K|INSC_ENST00000424273.1_Missense_Mutation_p.E369K|INSC_ENST00000525218.1_Missense_Mutation_p.E369K|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.E411K|INSC_ENST00000528567.1_Missense_Mutation_p.E411K NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 458 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 CATCATTCAGGAAAATGGTAT 0.413000 42 57 0 0 0.000680045 0 0 DNAH2 146754 broad.mit.edu 37 17 7701560 7701560 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:7701560C>T ENST00000572933.1 + 54 9776 c.8316C>T c.(8314-8316)gcC>gcT p.A2772A DNAH2_ENST00000389173.2_Silent_p.A2772A Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2772 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGAGTCTGGCCCGCCTGGCTT 0.612000 22 17 0 0 0.00047179 0 0 DNAH11 8701 broad.mit.edu 37 7 21765493 21765493 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:21765493C>T ENST00000328843.6 + 46 7383 c.7352C>T c.(7351-7353)cCg>cTg p.P2451L DNAH11_ENST00000409508.3_Missense_Mutation_p.P2444L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2451 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 GTGAAATTTCCGTCGCAGGGA 0.403000 Kartagener syndrome 5 15 0 0 0.00116845 0 0 ZNF169 169841 broad.mit.edu 37 9 97062705 97062705 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:97062705C>T ENST00000395395.2 + 5 955 c.865C>T c.(865-867)Ccg>Tcg p.P289S ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 289 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GGGGGAGAAGCCGTATGTGTG 0.557000 28 50 0 0 0.00106085 0 0 CACNA1B 774 broad.mit.edu 37 9 140953056 140953056 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:140953056C>T ENST00000277549.5 + 30 4501 c.1932C>T c.(1930-1932)ccC>ccT p.P644P CACNA1B_ENST00000277551.2_Silent_p.P1448P|CACNA1B_ENST00000371355.4_Silent_p.P1449P|CACNA1B_ENST00000371357.1_Silent_p.P1449P|CACNA1B_ENST00000371363.1_Silent_p.P1448P|CACNA1B_ENST00000371372.1_Silent_p.P1448P Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1448 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCGCCAAACCCCTGACACGGT 0.527000 14 17 0 0 0.00074312 0 0 GRN 2896 broad.mit.edu 37 17 42429912 42429912 + Silent SNP G G A rs34100802 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:42429912G>A ENST00000053867.3 + 12 1679 c.1617G>A c.(1615-1617)caG>caA p.Q539Q GRN_ENST00000589265.1_Silent_p.Q382Q NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 539 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ACAACCGACAGGGCTGGGCCT 0.652000 42 35 0 0 0.00148497 0 0 CBX7 23492 broad.mit.edu 37 22 39530028 39530028 + Silent SNP G G A rs148637787 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:39530028G>A ENST00000216133.5 - 6 829 c.624C>T c.(622-624)ccC>ccT p.P208P CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Silent_p.P115P NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 208 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) TCCAGGGAGGGGGCCCCTCGG 0.662000 20 52 0 0 0.000586117 0 0 KLHL30 377007 broad.mit.edu 37 2 239049908 239049908 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:239049908C>T ENST00000409223.1 + 2 620 c.513C>T c.(511-513)ttC>ttT p.F171F KLHL30_ENST00000305959.4_Silent_p.F153F Q0D2K2 KLH30_HUMAN kelch-like family member 30 171 BACK. lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGGACGAGTTCCTGCAGCTTC 0.657000 4 13 0 0 0.00024832 0 0 SIRT5 23408 broad.mit.edu 37 6 13588655 13588655 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:13588655T>C ENST00000606117.1 + 4 504 c.208T>C c.(208-210)Ttc>Ctc p.F70L SIRT5_ENST00000379262.4_Missense_Mutation_p.F70L|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000359782.3_Missense_Mutation_p.F70L NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 70 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TGTTCCGACCTTCAGAGGAGC 0.423000 13 51 0 0 0.00185496 0 0 NLRP11 204801 broad.mit.edu 37 19 56321612 56321612 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56321612G>A ENST00000443188.1 - 5 1074 c.364C>T c.(364-366)Cgt>Tgt p.R122C NLRP11_ENST00000589824.2_Missense_Mutation_p.R122C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R122C|NLRP11_ENST00000592953.1_Missense_Mutation_p.R23C|NLRP11_ENST00000589093.1_Missense_Mutation_p.R122C NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 122 ATP binding p.R122C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GAAACGTCACGAAAAAATTTA 0.383000 11 33 0 0 0.000978159 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813486 24813486 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:24813486C>T ENST00000376451.2 + 8 2000 c.1740C>T c.(1738-1740)tcC>tcT p.S580S KIAA1217_ENST00000376452.3_Silent_p.S862S|KIAA1217_ENST00000458595.1_Silent_p.S862S|KIAA1217_ENST00000376462.1_Silent_p.S817S|KIAA1217_ENST00000396446.1_Silent_p.S580S|KIAA1217_ENST00000376454.3_Silent_p.S897S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Silent_p.S580S|KIAA1217_ENST00000396445.1_Silent_p.S580S Q5T5P2 SKT_HUMAN KIAA1217 897 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 TCCAGCCCTCCCAGCACTCCG 0.647000 8 18 0 0 0.000274275 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121510 38121510 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38121510C>T ENST00000406386.3 + 7 3202 c.2947C>T c.(2947-2949)Cca>Tca p.P983S RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 983 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) CTCCCATAACCCAGGCCACCA 0.642000 37 87 0 0 0.00128727 0 0 IFNK 56832 broad.mit.edu 37 9 27524689 27524689 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:27524689G>A ENST00000276943.2 + 1 378 c.355G>A c.(355-357)Gat>Aat p.D119N MOB3B_ENST00000262244.5_Intron NM_020124.2 NP_064509.2 Q9P0W0 IFNK_HUMAN interferon, kappa 119 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) AATAGGACTTGATCAGCAAGC 0.413000 39 69 0 0 0.000680045 0 0 MAPK4 5596 broad.mit.edu 37 18 48190850 48190850 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:48190850C>T ENST00000400384.2 + 2 1558 c.522C>T c.(520-522)atC>atT p.I174I MAPK4_ENST00000588540.1_Silent_p.I174I|MAPK4_ENST00000592595.1_Silent_p.I174I|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 174 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) TGGCAAGGATCGTTGATCAGC 0.532000 23 49 0 0 0.000720815 0 0 CPSF7 79869 broad.mit.edu 37 11 61183697 61183697 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:61183697G>A ENST00000340437.4 - 6 1054 c.974C>T c.(973-975)cCt>cTt p.P325L CPSF7_ENST00000394888.4_Missense_Mutation_p.P282L|CPSF7_ENST00000439958.3_Missense_Mutation_p.P273L|CPSF7_ENST00000448745.1_Missense_Mutation_p.P273L NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 282 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GATGGCCCCAGGGGGAGGTAC 0.592000 14 19 0 0 0.000308642 0 0 SLC26A5 375611 broad.mit.edu 37 7 103061940 103061940 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:103061940C>T ENST00000306312.3 - 3 283 c.22G>A c.(22-24)Gaa>Aaa p.E8K SLC26A5_ENST00000432958.2_Missense_Mutation_p.E8K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E8K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Missense_Mutation_p.E8K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E8K|SLC26A5_ENST00000393735.2_Missense_Mutation_p.E8K NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 8 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 GCAAGGATTTCATTTTCTTCA 0.428000 15 39 0 0 0.000958276 0 0 UNC45B 146862 broad.mit.edu 37 17 33475450 33475450 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:33475450G>A ENST00000268876.5 + 2 265 c.168_splice c.e2+1 p.T56_splice UNC45B_ENST00000591048.1_Splice_Site_p.T56_splice|UNC45B_ENST00000378449.1_Splice_Site_p.T56_splice|UNC45B_ENST00000433649.1_Splice_Site_p.T56_splice|UNC45B_ENST00000394570.2_Splice_Site_p.T56_splice NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 56 cell differentiation|muscle organ development cytosol binding p.T56T(1) 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) GCCTGAAAACGGTCTGGGGCA 0.627000 25 20 0 0 0.000720815 0 0 MDC1 9656 broad.mit.edu 37 6 30672586 30672586 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30672586G>A ENST00000376406.3 - 10 5021 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S MDC1_ENST00000376405.2_Silent_p.S1194S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1458 Interaction with the PRKDC complex.|Pro-rich. 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 CTGTGGAGGTGGAAGGCTGGA 0.567000 Other conserved DNA damage response genes 32 127 0 0 0.00209593 0 0 SAMD4A 23034 broad.mit.edu 37 14 55168868 55168868 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:55168868C>T ENST00000251091.5 + 2 590 c.285C>T c.(283-285)ctC>ctT p.L95L SAMD4A_ENST00000392067.3_Silent_p.L95L|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.L94L|SAMD4A_ENST00000554335.1_Silent_p.L95L NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 95 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CAGGAAACCTCGACGCGAAAG 0.458000 14 27 0 0 0.00185496 0 0 ASIC5 51802 broad.mit.edu 37 4 156775465 156775465 + Splice_Site SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:156775465A>G ENST00000537611.2 - 3 395 c.347_splice c.e3-1 p.F117_splice NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 117 integral to membrane|plasma membrane TCTGTTTGGAACCTATTAGCA 0.343000 15 48 0 0 0.000308642 0 0 HIVEP2 3097 broad.mit.edu 37 6 143090817 143090817 + Missense_Mutation SNP T T G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:143090817T>G ENST00000367603.2 - 5 5801 c.5059A>C c.(5059-5061)Acc>Ccc p.T1687P HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1687P|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1687P NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTGGTCTTGGTGTTCAATCCT 0.448000 24 65 0 0 0.00106085 0 0 C16orf92 146378 broad.mit.edu 37 16 30035385 30035385 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30035385C>A ENST00000300575.2 + 3 376 c.355C>A c.(355-357)Ctt>Att p.L119I NM_001109659.1|NM_001109660.1 NP_001103129.1|NP_001103130.1 Q96LL3 CP092_HUMAN chromosome 16 open reading frame 92 119 integral to membrane breast(3)|lung(3) 6 CTTCTTTCTCCTTTTCCAGTT 0.587000 18 47 2.94398e-08 1.14544e-07 0.000958276 1 0 HHIPL1 84439 broad.mit.edu 37 14 100129338 100129338 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:100129338C>T ENST00000330710.5 + 6 1726 c.1628C>T c.(1627-1629)tCc>tTc p.S543F HHIPL1_ENST00000357223.2_Missense_Mutation_p.S543F NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 543 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity p.S543F(1) breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) TACATCATCTCCTTCGGGGAG 0.607000 16 12 0 0 0.000422831 0 0 ZNF12 7559 broad.mit.edu 37 7 6730531 6730531 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:6730531C>T ENST00000405858.1 - 5 2583 c.2042G>A c.(2041-2043)aGa>aAa p.R681K ZNF12_ENST00000404360.1_Missense_Mutation_p.R607K|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R643K NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 681 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CCTATGAATTCTCTGATGGCT 0.378000 8 36 0 0 0.000157383 0 0 OR14C36 127066 broad.mit.edu 37 1 248512475 248512475 + Silent SNP C C T rs150366522 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248512475C>T ENST00000317861.1 + 1 399 c.399C>T c.(397-399)atC>atT p.I133I NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ACCCTGTGATCGTGAACTCTC 0.507000 19 35 0 0 0.00229938 0 0 WISP3 8838 broad.mit.edu 37 6 112386127 112386127 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:112386127G>A ENST00000361714.1 + 3 615 c.570G>A c.(568-570)aaG>aaA p.K190K WISP3_ENST00000604763.1_Silent_p.K172K|WISP3_ENST00000230529.5_Silent_p.K172K|WISP3_ENST00000368666.2_Silent_p.K172K|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Silent_p.K149K O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 172 cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding p.K190N(1) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) AAGGTGGAAAGAAGTCTGATC 0.483000 33 50 0 0 0.00058488 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693211 187693211 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:187693211C>T ENST00000295131.2 - 9 1441 c.1402G>A c.(1402-1404)Gat>Aat p.D468N NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 468 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) CATAGATTATCTATTGTTGTA 0.289000 19 52 0 0 0.00229938 0 0 AIP 9049 broad.mit.edu 37 11 67256782 67256782 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:67256782C>T ENST00000279146.3 + 3 442 c.324C>T c.(322-324)atC>atT p.I108I NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 108 PPIase FKBP-type. protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 TCCGCAACATCGCGGTGGGCA 0.687000 Familial Isolated Pituitary Adenoma 6 12 0 0 0.00198382 0 0 CTNND2 1501 broad.mit.edu 37 5 10992745 10992745 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:10992745G>A ENST00000304623.8 - 19 3318 c.3129C>T c.(3127-3129)atC>atT p.I1043I CTNND2_ENST00000511377.1_Silent_p.I952I|CTNND2_ENST00000458100.2_Silent_p.I610I|CTNND2_ENST00000359640.2_Silent_p.I985I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I706I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1043 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 GGTCCCTCTCGATGGTTGAAG 0.572000 26 51 0 0 0.00127121 0 0 CERS4 79603 broad.mit.edu 37 19 8319473 8319473 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8319473C>T ENST00000558331.1 + 4 570 c.111C>T c.(109-111)ttC>ttT p.F37F CERS4_ENST00000559336.1_Silent_p.F88F|CERS4_ENST00000559450.1_Silent_p.F88F|CERS4_ENST00000251363.5_Silent_p.F88F|CERS4_ENST00000595722.1_3'UTR Q9HA82 CERS4_HUMAN ceramide synthase 4 88 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AGAAACACTTCCTCACGGAAG 0.652000 4 7 0 0 0.000602214 0 0 CTAG2 30848 broad.mit.edu 37 X 153880690 153880690 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:153880690C>T ENST00000247306.4 - 2 548 c.485G>A c.(484-486)gGg>gAg p.G162E CTAG2_ENST00000369585.3_Intron NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 162 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) AGCTTTCTGCCCCTCCGGGGA 0.632000 35 15 0 0 0.00128727 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284533 52284533 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52284533G>A ENST00000301190.6 + 5 1030 c.803G>A c.(802-804)gGg>gAg p.G268E ANKRD33_ENST00000538991.1_Missense_Mutation_p.G74E|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G143E|ANKRD33_ENST00000547119.1_3'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 143 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GCCTTGTCCGGGCTCGTggcc 0.667000 9 17 0 0 0.000442599 0 0 PRTG 283659 broad.mit.edu 37 15 55930825 55930825 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:55930825C>T ENST00000389286.4 - 14 2421 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 792 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ACGGCAAATTCGTATTTGGTG 0.393000 18 19 0 0 0.00121646 0 0 MIR543 100126335 broad.mit.edu 37 14 101498377 101498377 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:101498377C>T ENST00000390751.1 + 0 54 NR_030619.1 ACGAAACATTCGCGGTGCACT 0.498000 12 20 0 0 0.00244969 0 0 IL36A 27179 broad.mit.edu 37 2 113765561 113765561 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:113765561C>T ENST00000259211.6 + 4 828 c.417C>T c.(415-417)atC>atT p.I139I NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36, alpha 139 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 GTCCTCTCATCCTTACCCAAG 0.507000 13 44 0 0 0.00185496 0 0 OR2J2 26707 broad.mit.edu 37 6 29141693 29141693 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29141693C>T ENST00000377167.2 + 1 383 c.281C>T c.(280-282)tCg>tTg p.S94L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S94*(1) endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AAGACCATCTCGTATGCTGGT 0.473000 40 122 0 0 0.00128727 0 0 CLCA1 1179 broad.mit.edu 37 1 86951181 86951181 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:86951181C>T ENST00000234701.3 + 7 1242 c.891C>T c.(889-891)ttC>ttT p.F297F CLCA1_ENST00000394711.1_Silent_p.F297F A8K7I4 CLCA1_HUMAN chloride channel accessory 1 297 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) ATCCCACCTTCTCATTGCTGC 0.443000 24 97 0 0 0.00106085 0 0 ZNF16 7564 broad.mit.edu 37 8 146157923 146157923 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:146157923C>T ENST00000276816.4 - 4 436 c.250G>A c.(250-252)Gaa>Aaa p.E84K ZNF16_ENST00000394909.2_Missense_Mutation_p.E84K NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E84K(1) breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCCAAATCTTCATGAATGTCT 0.423000 27 50 0 0 0.000878237 0 0 OR1L6 392390 broad.mit.edu 37 9 125512453 125512453 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125512453G>A ENST00000373684.1 + 1 435 c.435G>A c.(433-435)ggG>ggA p.G145G OR1L6_ENST00000304720.2_Silent_p.G109G Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 TGGCATTTGGGAACACTGACA 0.502000 54 74 0 0 0.000781405 0 0 BAI3 577 broad.mit.edu 37 6 70071080 70071080 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:70071080A>T ENST00000370598.1 + 29 4736 c.3915A>T c.(3913-3915)gaA>gaT p.E1305D BAI3_ENST00000238918.8_Missense_Mutation_p.E511D|BAI3_ENST00000546190.1_Missense_Mutation_p.E269D NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1305 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) GAATGATGGAAAGTGACTATA 0.388000 15 21 0 0 0.000308642 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883546 51883546 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:51883546C>T ENST00000453097.2 + 19 2728 c.2511C>T c.(2509-2511)atC>atT p.I837I SLC4A8_ENST00000358657.3_Silent_p.I864I NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 837 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) TCTGCTCCATCATGGGCCTGC 0.532000 21 62 0 0 0.00278032 0 0 PLCZ1 89869 broad.mit.edu 37 12 18852779 18852779 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:18852779C>T ENST00000266505.7 - 10 1386 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K PLCZ1_ENST00000539875.1_Missense_Mutation_p.E182K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E157K|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E373K|PLCZ1_ENST00000541695.1_Missense_Mutation_p.E238K|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E180K Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 375 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) GAATTATTTTCATTAAATTGC 0.313000 27 63 0 0 0.00127121 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829085 96829085 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96829085C>T ENST00000371270.3 - 1 169 c.75G>A c.(73-75)agG>agA p.R25R CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 25 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCTTCCTTCTCCTACAGCTCT 0.433000 20 16 0 0 0.00121646 0 0 CFAP54 144535 broad.mit.edu 37 12 97073486 97073486 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:97073486G>A ENST00000524981.3 + 7 1025 c.1025G>A c.(1024-1026)cGa>cAa p.R342Q Q6ZTY8 CL063_HUMAN 316 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 AGATCAATCCGACACAGCAGA 0.453000 40 82 0 0 0.00222228 0 0 CPED1 79974 broad.mit.edu 37 7 120884392 120884392 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:120884392G>A ENST00000310396.5 + 18 2777 c.2310_splice c.e18+1 p.K770_splice CPED1_ENST00000423795.1_Splice_Site_p.K550_splice|CPED1_ENST00000450913.2_Splice_Site_p.K770_splice NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GAGGAAGGAAGGTAGGTTCTG 0.478000 12 39 0 0 0.00185496 0 0 RIMS2 9699 broad.mit.edu 37 8 105261748 105261748 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:105261748G>A ENST00000507740.1 + 20 3301 c.3065G>A c.(3064-3066)gGa>gAa p.G1022E RIMS2_ENST00000436393.2_Missense_Mutation_p.G1226E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G1208E|RIMS2_ENST00000339750.2_Missense_Mutation_p.G144E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G1047E NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1270 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) GACAAAAAGGGACAGCTGGAG 0.403000 HNSCC(12;0.0054) 20 44 0 0 0.00229938 0 0 CHAD 1101 broad.mit.edu 37 17 48542684 48542684 + Missense_Mutation SNP C C T rs142153342 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48542684C>T ENST00000508540.1 - 3 1207 c.1055G>A c.(1054-1056)aGg>aAg p.R352K ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R352K|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 352 regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TTTCTTGGACCTCTTGGTGGG 0.592000 19 22 0 0 0.00188189 0 0 DEFB115 245929 broad.mit.edu 37 20 29847306 29847306 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:29847306G>A ENST00000400552.1 + 2 138 c.138G>A c.(136-138)agG>agA p.R46R NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 46 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) GCAGATGCAGGAAATCATGCA 0.328000 11 37 0 0 0.00185496 0 0 NBEAL1 65065 broad.mit.edu 37 2 204000556 204000556 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:204000556G>A ENST00000449802.1 + 27 4216 c.3883G>A c.(3883-3885)Gat>Aat p.D1295N NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1295 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GAAAGACAATGATAAAAATAT 0.348000 159 305 0 0 0.000781405 0 0 ANKS1A 23294 broad.mit.edu 37 6 34949646 34949646 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:34949646C>T ENST00000360359.3 + 4 753 c.615C>T c.(613-615)caC>caT p.H205H ANKS1A_ENST00000535627.1_Silent_p.H205H NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 205 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTAATGCACACCCCAACCTCC 0.572000 29 85 0 0 0.001512 0 0 KIAA1549 57670 broad.mit.edu 37 7 138522763 138522763 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:138522763G>A ENST00000440172.1 - 20 5741 c.5693C>T c.(5692-5694)tCc>tTc p.S1898F KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1914F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S1848F|TMEM213_ENST00000413208.1_Missense_Mutation_p.E102K NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1914 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTCTTCCGTGGAGCTGGTGGG 0.647000 O BRAF pilocytic astrocytoma 7 3 0 0 0.000157383 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752225 15752225 + Translation_Start_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15752225G>A ENST00000221307.7 + 0 48 CYP4F3_ENST00000586182.1_De_novo_Start_InFrame|CYP4F3_ENST00000585846.1_De_novo_Start_InFrame|CYP4F3_ENST00000591058.1_De_novo_Start_InFrame NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGCCCTGCAGGATGCCACAGC 0.677000 19 32 0 0 0.00152264 0 0 NWD1 284434 broad.mit.edu 37 19 16860421 16860421 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:16860421G>A ENST00000524140.2 + 6 1386 c.968G>A c.(967-969)gGg>gAg p.G323E NWD1_ENST00000523826.1_Missense_Mutation_p.G117E|NWD1_ENST00000552788.1_Missense_Mutation_p.G323E|NWD1_ENST00000339803.6_Missense_Mutation_p.G188E|NWD1_ENST00000379808.3_Missense_Mutation_p.G323E|NWD1_ENST00000549814.1_Missense_Mutation_p.G323E NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 323 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCCCGGCTTGGGCAGCAGCTC 0.617000 13 33 0 0 0.000308642 0 0 LIPJ 142910 broad.mit.edu 37 10 90362355 90362355 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:90362355C>T ENST00000371939.3 + 9 1060 c.746C>T c.(745-747)tCa>tTa p.S249L NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 249 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) GTGTATTTTTCACACAACCCA 0.313000 25 22 0 0 0.00283554 0 0 PHC3 80012 broad.mit.edu 37 3 169824618 169824618 + Splice_Site SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169824618A>G ENST00000494943.1 - 12 2501 c.e12+1 PHC3_ENST00000467570.1_Splice_Site|PHC3_ENST00000495893.1_Splice_Site Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655) GCACAGAAATACCTTTTGGCA 0.373000 14 30 0 0 0.00185496 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17190814 17190814 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:17190814G>A ENST00000265970.7 - 1 474 c.475C>T c.(475-477)Cct>Tct p.P159S PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 159 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TAAGTAGAAGGATAAATAGAA 0.418000 24 58 0 0 0.000878237 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49344405 49344405 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:49344405C>T ENST00000263265.6 - 17 2461 c.e17+1 PLEKHA4_ENST00000355496.5_Intron NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCTCCCCTCACCCTTTGCTCC 0.617000 5 9 0 0 0.00116845 0 0 MYBPC2 4606 broad.mit.edu 37 19 50964891 50964891 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50964891C>T ENST00000357701.5 + 25 3075 c.3024C>T c.(3022-3024)acC>acT p.T1008T NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 1008 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GAGTTTACACCGAGAACATCT 0.537000 OREG0025636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 10 0 0 0.000602214 0 0 ACBD4 79777 broad.mit.edu 37 17 43216425 43216425 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:43216425G>A ENST00000431281.1 + 11 1194 c.725G>A c.(724-726)tGg>tAg p.W242* ACBD4_ENST00000586346.1_Nonsense_Mutation_p.W242*|ACBD4_ENST00000591859.1_Nonsense_Mutation_p.W242*|ACBD4_ENST00000376955.4_Nonsense_Mutation_p.W226*|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000398322.3_Silent_p.L229L|ACBD4_ENST00000321854.8_Silent_p.L229L NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 226 R -> G (in dbSNP:rs16939879). fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 CCCAGGAGTTGGACGTGTGGC 0.687000 29 29 0 0 0.00058488 0 0 PPBP 5473 broad.mit.edu 37 4 74853054 74853054 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:74853054G>A ENST00000296028.3 - 3 415 c.322C>T c.(322-324)Cca>Tca p.P108S NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 108 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) GGAGCATCTGGGTCCAGGCAG 0.423000 25 51 0 0 0.000720815 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481726 27481726 + Missense_Mutation SNP C C T rs141176570 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:27481726C>T ENST00000233535.4 - 2 524 c.172G>A c.(172-174)Gac>Aac p.D58N SLC30A3_ENST00000447008.2_Missense_Mutation_p.D53N NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 58 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGGGGGTCCCTGTGGCAG 0.607000 9 34 0 0 0.000673444 0 0 KCNK13 56659 broad.mit.edu 37 14 90650698 90650698 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:90650698C>T ENST00000282146.4 + 2 1019 c.578C>T c.(577-579)tCc>tTc p.S193F NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 193 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TGGAAGCCCTCCGTGTACTAC 0.627000 31 42 0 0 0.0024448 0 0 ANO5 203859 broad.mit.edu 37 11 22283727 22283727 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:22283727C>T ENST00000324559.8 + 16 2000 c.1683C>T c.(1681-1683)ttC>ttT p.F561F CTD-3064C13.1_ENST00000526935.1_RNA NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 561 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 TGAAAATGTTCCTGTTTCAGT 0.323000 35 65 0 0 0.00111076 0 0 MIR548I1 100302204 broad.mit.edu 37 3 125509351 125509351 + RNA SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:125509351T>C ENST00000408810.1 - 0 44 NR_031687.1 aatccgcaattacttttgcac 0.413000 23 37 0 0 0.000586117 0 0 OR51F2 119694 broad.mit.edu 37 11 4843204 4843204 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4843204G>A ENST00000322110.5 + 1 654 c.589G>A c.(589-591)Gat>Aat p.D197N MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 197 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) CTACCATGTTGATCTCATCCA 0.463000 50 96 0 0 0.000781405 0 0 ZNF346 23567 broad.mit.edu 37 5 176471497 176471497 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176471497G>A ENST00000503039.1 + 5 559 c.555G>A c.(553-555)aaG>aaA p.K185K ZNF346_ENST00000261948.4_Silent_p.K185K|ZNF346_ENST00000358149.3_Silent_p.K160K|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Silent_p.K128K|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000511834.1_Silent_p.K160K Q9UL40 ZN346_HUMAN zinc finger protein 346 160 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) CCCACGCAAAGAACTTAAAGC 0.547000 21 75 0 0 0.00047179 0 0 SMARCA1 6594 broad.mit.edu 37 X 128605256 128605256 + Silent SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:128605256T>C ENST00000371122.4 - 20 2619 c.2490A>G c.(2488-2490)gaA>gaG p.E830E SMARCA1_ENST00000371123.1_Silent_p.E818E|SMARCA1_ENST00000371121.3_Silent_p.E818E NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 830 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTTTTTGCTCTTCTCTTTGAG 0.343000 57 40 0 0 0.000781405 0 0 CD33 945 broad.mit.edu 37 19 51729165 51729165 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51729165G>A ENST00000436584.2 + 2 199 c.144G>A c.(142-144)ccG>ccA p.P48P CD33_ENST00000421133.2_Silent_p.P48P|CD33_ENST00000262262.4_Silent_p.P175P|CD33_ENST00000391796.3_Silent_p.P175P P20138 CD33_HUMAN CD33 molecule 175 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GAACACCCCCGATCTTCTCCT 0.627000 23 46 0 0 0.00229938 0 0 PLEC 5339 broad.mit.edu 37 8 144998577 144998577 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144998577G>A ENST00000322810.4 - 31 6100 c.5931C>T c.(5929-5931)gcC>gcT p.A1977A PLEC_ENST00000398774.2_Silent_p.A1808A|PLEC_ENST00000356346.3_Silent_p.A1826A|PLEC_ENST00000357649.2_Silent_p.A1844A|PLEC_ENST00000345136.3_Silent_p.A1840A|PLEC_ENST00000527096.1_Silent_p.A1863A|PLEC_ENST00000354589.3_Silent_p.A1840A|PLEC_ENST00000354958.2_Silent_p.A1818A|PLEC_ENST00000436759.2_Silent_p.A1867A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1977 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCCGATGGCGGCCAGCTTCT 0.741000 5 12 0 0 0.00116845 0 0 YTHDC2 64848 broad.mit.edu 37 5 112888986 112888986 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:112888986C>T ENST00000161863.4 + 13 2010 c.1797C>T c.(1795-1797)ttC>ttT p.F599F YTHDC2_ENST00000515883.1_Silent_p.F599F NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 599 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) ATCATAGTTTCGATGATGAAA 0.378000 9 36 0 0 0.000442599 0 0 MUC16 94025 broad.mit.edu 37 19 9088636 9088636 + Missense_Mutation SNP C C T rs148517753 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9088636C>T ENST00000397910.4 - 1 3382 c.3179G>A c.(3178-3180)gGa>gAa p.G1060E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1060 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 AGCTGTGGTTCCAATGGGCAG 0.483000 44 67 0 0 0.000781405 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625386 43625386 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43625386G>A ENST00000332857.6 - 4 3329 c.3301C>T c.(3301-3303)Ccc>Tcc p.P1101S NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TGAATAGGGGGAAACATTGGC 0.488000 62 141 0 0 0.000781405 0 0 GPR158 57512 broad.mit.edu 37 10 25701229 25701229 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:25701229G>A ENST00000376351.3 + 4 1521 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 388 integral to membrane|plasma membrane G-protein coupled receptor activity p.E388*(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTGTCAGAAGAAGCCTATGT 0.473000 38 97 0 0 0.00195071 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257013 140257013 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140257013G>A ENST00000398631.2 + 1 1956 c.1956G>A c.(1954-1956)aaG>aaA p.K652K PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGTGAAGGACCACGGTG 0.687000 9 34 0 0 0.000442599 0 0 DSG4 147409 broad.mit.edu 37 18 28989707 28989707 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:28989707G>A ENST00000308128.4 + 14 2208 c.e14-1 RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000578477.1_RNA NM_177986.3 NP_817123.1 Q86SJ6 DSG4_HUMAN desmoglein 4 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.?(1) 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) TTTCTTTTCAGGATGTGTCAA 0.333000 13 33 0 0 0.00244969 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167741 140167741 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140167741C>T ENST00000504120.2 + 1 1866 c.1866C>T c.(1864-1866)ttC>ttT p.F622F PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.F622F NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCCCGTTCCGCGTGGGGC 0.657000 25 43 0 0 0.000878237 0 0 SPRYD3 84926 broad.mit.edu 37 12 53470942 53470942 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:53470942G>A ENST00000301463.4 - 2 213 c.127C>T c.(127-129)Cag>Tag p.Q43* SPRYD3_ENST00000547837.1_Nonsense_Mutation_p.Q80* NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 43 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 AACCTCTCCTGATATCGGAAA 0.468000 23 48 0 0 0.000586117 0 0 HTT 3064 broad.mit.edu 37 4 3230432 3230432 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:3230432C>T ENST00000355072.5 + 58 8084 c.7939C>T c.(7939-7941)Cct>Tct p.P2647S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2647 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) ggCCGACGCCCCTGCACCTTC 0.517000 7 25 0 0 0.000157383 0 0 OR6T1 219874 broad.mit.edu 37 11 123814011 123814011 + Missense_Mutation SNP G G A rs140103246 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:123814011G>A ENST00000321252.2 - 1 569 c.535C>T c.(535-537)Cgt>Tgt p.R179C NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R179C(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CAACTGTCACGAAAGAAGTGG 0.572000 15 20 0 0 0.000308642 0 0 ACKR3 57007 broad.mit.edu 37 2 237489660 237489660 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:237489660G>A ENST00000272928.3 + 2 862 c.552G>A c.(550-552)aaG>aaA p.K184K NM_020311.2 NP_064707.1 atypical chemokine receptor 3 ACTACCTGAAGACCGTCACGT 0.592000 45 65 0 0 0.000781405 0 0 C10orf120 399814 broad.mit.edu 37 10 124459259 124459259 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124459259C>T ENST00000329446.4 - 1 79 c.48G>A c.(46-48)agG>agA p.R16R NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 16 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) TGTCACTAGCCCTCTGTTTTT 0.433000 16 40 0 0 0.00188189 0 0 MYOCD 93649 broad.mit.edu 37 17 12666750 12666750 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:12666750C>T ENST00000425538.1 + 14 2950 c.2750C>T c.(2749-2751)tCa>tTa p.S917L RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.S869L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 869 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) ACACAGTTTTCACCCTCTTCT 0.522000 19 23 0 0 0.00229938 0 0 ZFP42 132625 broad.mit.edu 37 4 188924639 188924639 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:188924639C>T ENST00000326866.4 + 4 1086 c.678C>T c.(676-678)ttC>ttT p.F226F ZFP42_ENST00000509524.1_Silent_p.F226F NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 226 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAAAGCGTTCGTTGAGAGCT 0.507000 22 65 0 0 0.00278032 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596214 24596214 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:24596214G>A ENST00000535378.1 - 4 1303 c.661C>T c.(661-663)Cct>Tct p.P221S KIAA0319_ENST00000430948.2_Missense_Mutation_p.P185S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P230S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P230S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 230 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTTCTCTCAGGGAGTTTTGGG 0.552000 12 49 0 0 0.000978159 0 0 REEP2 51308 broad.mit.edu 37 5 137780970 137780970 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:137780970C>T ENST00000378339.2 + 6 663 c.471C>T c.(469-471)acC>acT p.T157T REEP2_ENST00000254901.5_Silent_p.T155T|REEP2_ENST00000506158.1_Silent_p.T117T NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 155 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGGACCTGACCCTGATCCGGG 0.692000 11 35 0 0 0.00185496 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73190268 73190268 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:73190268C>T ENST00000545377.1 + 29 3885 c.3709C>T c.(3709-3711)Ctg>Ttg p.L1237L ARHGEF28_ENST00000296794.6_Silent_p.L1237L|ARHGEF28_ENST00000512883.1_Silent_p.L201L|ARHGEF28_ENST00000426542.2_Silent_p.L1237L|ARHGEF28_ENST00000287898.5_Silent_p.L1237L|ARHGEF28_ENST00000513042.2_Silent_p.L1237L|ARHGEF28_ENST00000437974.1_Silent_p.L1237L|ARHGEF28_ENST00000296799.4_Silent_p.L924L NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GGAGGAGAAGCTGCATATCTA 0.438000 4 21 0 0 0.00024832 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43630529 43630529 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43630529G>A ENST00000332857.6 - 1 201 c.173C>T c.(172-174)tCg>tTg p.S58L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTCCCAGGCGATGGTGAGGG 0.463000 35 100 0 0 0.00222228 0 0 EGFLAM 133584 broad.mit.edu 37 5 38431313 38431313 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:38431313G>A ENST00000322350.5 + 15 2435 c.2089G>A c.(2089-2091)Gag>Aag p.E697K EGFLAM_ENST00000354891.3_Missense_Mutation_p.E697K|EGFLAM_ENST00000397202.2_Missense_Mutation_p.E63K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E463K NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 697 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CAACTGGCACGAGCTTCGTGT 0.448000 11 39 0 0 0.000308642 0 0 ACSS3 79611 broad.mit.edu 37 12 81503382 81503382 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:81503382C>T ENST00000548058.1 + 2 1265 c.355C>T c.(355-357)Cgt>Tgt p.R119C ACSS3_ENST00000261206.3_Missense_Mutation_p.R118C|RP11-543H12.1_ENST00000547123.1_RNA Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 119 mitochondrion acetate-CoA ligase activity|ATP binding p.R119C(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TGCCGTTGATCGTCATATTGA 0.338000 22 46 0 0 0.00229938 0 0 DLGAP2 9228 broad.mit.edu 37 8 1574988 1574988 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:1574988C>T ENST00000421627.2 + 4 1419 c.1285C>T c.(1285-1287)Cgc>Tgc p.R429C NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 508 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCCGAAATTCCGCTCCCGGAA 0.617000 8 8 0 0 0.000442599 0 0 TBC1D1 23216 broad.mit.edu 37 4 38091654 38091654 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38091654C>T ENST00000261439.4 + 13 2507 c.2152C>T c.(2152-2154)Cgt>Tgt p.R718C TBC1D1_ENST00000508802.1_Missense_Mutation_p.R812C NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 718 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AAGGACATCTCGTGAGCTCCG 0.488000 35 54 0 0 0.000953801 0 0 SLC6A13 6540 broad.mit.edu 37 12 369043 369043 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:369043G>A ENST00000343164.4 - 2 228 c.176C>T c.(175-177)cCc>cTc p.P59L SLC6A13_ENST00000436453.1_Missense_Mutation_p.P59L|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P59L NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 59 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) GCAGAGATAGGGAAACCTCCA 0.562000 42 91 0 0 0.000781405 0 0 QARS 5859 broad.mit.edu 37 3 49138819 49138819 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:49138819T>C ENST00000306125.6 - 10 1182 c.845A>G c.(844-846)aAa>aGa p.K282R QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_Silent_p.Q271Q|QARS_ENST00000414533.1_Missense_Mutation_p.K271R P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 282 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) ATTGATGGCTTTGGCATGTCC 0.473000 21 16 0 0 0.00047179 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073510 74073510 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:74073510C>T ENST00000370367.3 + 3 634 c.581C>T c.(580-582)tCc>tTc p.S194F NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member ACCCAGCGATCCCCCGAAGCT 0.642000 10 19 0 0 0.00136819 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152181 151152181 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:151152181C>T ENST00000367328.1 + 16 2246 c.1934C>T c.(1933-1935)cCc>cTc p.P645L PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P645L NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 645 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGATGACTCCCTTTGGGTCA 0.458000 12 25 0 0 0.00244969 0 0 DNAJC8 22826 broad.mit.edu 37 1 28527822 28527822 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:28527822C>T ENST00000263697.4 - 9 725 c.699G>A c.(697-699)aaG>aaA p.K233K DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 233 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TCTTCTCTTTCTTCCCCTTCG 0.493000 113 124 0 0 0.000781405 0 0 CYP4F12 66002 broad.mit.edu 37 19 15795991 15795991 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15795991C>T ENST00000550308.1 + 9 1479 c.1099C>T c.(1099-1101)Cct>Tct p.P367S CYP4F12_ENST00000324632.9_Missense_Mutation_p.P367S NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GGACCGCGATCCTAAAGAGAT 0.562000 23 67 0 0 0.00209593 0 0 THSD7B 80731 broad.mit.edu 37 2 138030160 138030160 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:138030160G>A ENST00000409968.1 + 11 2502 c.2324G>A c.(2323-2325)gGa>gAa p.G775E THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G775E|THSD7B_ENST00000413152.2_Missense_Mutation_p.G744E 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) GCAGCCAATGGAGGCCAGGAA 0.388000 12 22 0 0 0.00136819 0 0 BCAN 63827 broad.mit.edu 37 1 156617345 156617345 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156617345C>T ENST00000329117.4 + 4 848 c.512C>T c.(511-513)tCc>tTc p.S171F RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.S171F NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 171 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TATGCTTTCTCCTTTTCTGGG 0.642000 7 20 0 0 0.000157383 0 0 XIRP1 165904 broad.mit.edu 37 3 39227663 39227663 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39227663C>T ENST00000340369.3 - 2 3502 c.3274G>A c.(3274-3276)Ggt>Agt p.G1092S XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1092 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) TTCCGAAGACCGTCCTGGATG 0.602000 17 25 0 0 0.00188189 0 0 USH2A 7399 broad.mit.edu 37 1 215960078 215960078 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:215960078C>T ENST00000366943.2 - 52 10707 c.10321G>A c.(10321-10323)Gaa>Aaa p.E3441K USH2A_ENST00000307340.3_Missense_Mutation_p.E3441K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3441 Fibronectin type-III 19. 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) CACATTTCTTCAATTGATGCC 0.453000 HNSCC(13;0.011) 26 61 0 0 0.0024448 0 0 SPRR4 163778 broad.mit.edu 37 1 152944375 152944375 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152944375C>T ENST00000328051.2 + 2 58 c.9C>T c.(7-9)tcC>tcT p.S3S NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 3 keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAATGTCTTCCcagcagcagc 0.532000 29 47 0 0 0.00178596 0 0 SLC9C1 285335 broad.mit.edu 37 3 111958766 111958766 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111958766G>A ENST00000305815.5 - 12 1619 c.1367C>T c.(1366-1368)gCc>gTc p.A456V SLC9C1_ENST00000487372.1_Missense_Mutation_p.A408V NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 456 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity AAATTTAAGGGCAGAGGCTGC 0.363000 18 45 0 0 0.000958276 0 0 JADE2 23338 broad.mit.edu 37 5 133895526 133895526 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:133895526C>T ENST00000395003.1 + 5 497 c.318C>T c.(316-318)ctC>ctT p.L106L PHF15_ENST00000282605.4_Silent_p.L106L|PHF15_ENST00000361895.2_Silent_p.L106L|PHF15_ENST00000402835.1_Silent_p.L106L NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 106 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTAGGATCCTCCCACCACTGG 0.637000 4 25 0 0 0.000602214 0 0 PID1 55022 broad.mit.edu 37 2 230020561 230020561 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:230020561C>T ENST00000392054.3 - 3 582 c.243G>A c.(241-243)atG>atA p.M81I PID1_ENST00000482518.2_5'UTR|PID1_ENST00000354069.6_Missense_Mutation_p.M83I|PID1_ENST00000409462.1_Intron|PID1_ENST00000392055.3_Missense_Mutation_p.M50I NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 83 cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TCCTTGTCTTCATCAGCGGTG 0.522000 21 54 0 0 0.000586117 0 0 ZNF554 115196 broad.mit.edu 37 19 2832352 2832352 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:2832352C>T ENST00000317243.5 + 4 503 c.305C>T c.(304-306)tCc>tTc p.S102F ZNF554_ENST00000591265.1_Missense_Mutation_p.S102F NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 102 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCCACTTTCCCCAGCACAA 0.438000 40 98 0 0 0.00170553 0 0 MPP2 4355 broad.mit.edu 37 17 41975676 41975676 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:41975676A>C ENST00000269095.4 - 3 408 c.104T>G c.(103-105)tTc>tGc p.F35C MPP2_ENST00000523501.1_Missense_Mutation_p.F24C|MPP2_ENST00000377184.3_Missense_Mutation_p.F52C|MPP2_ENST00000518766.1_Missense_Mutation_p.F80C|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000536246.1_Missense_Mutation_p.F24C|MPP2_ENST00000461854.1_Missense_Mutation_p.F35C NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 35 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GCCTCGAAGGAAGATCAGGTC 0.592000 28 43 0 0 0.00209593 0 0 TMEM132D 121256 broad.mit.edu 37 12 129569278 129569278 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:129569278G>A ENST00000389441.4 - 1 1267 c.27C>T c.(25-27)ttC>ttT p.F9F TMEM132D_ENST00000422113.2_Intron Q14C87 T132D_HUMAN transmembrane protein 132D 0 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AAAGGGGAGGGAAAGGTGAGC 0.527000 7 11 0 0 0.00198382 0 0 GHITM 27069 broad.mit.edu 37 10 85912039 85912039 + Missense_Mutation SNP G G A rs143660911 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:85912039G>A ENST00000372134.3 + 9 1166 c.973G>A c.(973-975)Gat>Aat p.D325N NM_014394.2 NP_055209.2 Q9H3K2 GHITM_HUMAN growth hormone inducible transmembrane protein 325 apoptosis integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2) 10 TATCTACATGGATACATTAAA 0.333000 14 18 0 0 0.000422831 0 0 FCER1A 2205 broad.mit.edu 37 1 159275794 159275794 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159275794G>A ENST00000368115.1 + 5 447 c.348G>A c.(346-348)caG>caA p.Q116Q FCER1A_ENST00000368114.1_Silent_p.Q83Q NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 116 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TGCTCCTTCAGGCCTCTGCTG 0.458000 11 22 0 0 0.00136819 0 0 C9orf153 389766 broad.mit.edu 37 9 88844513 88844513 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:88844513G>A ENST00000339137.3 - 2 139 c.6C>T c.(4-6)ttC>ttT p.F2F C9orf153_ENST00000376001.3_Silent_p.F2F|C9orf153_ENST00000469914.1_5'UTR NM_001276367.1|NM_001276368.1 NP_001263296.1|NP_001263297.1 Q5TBE3 CI153_HUMAN chromosome 9 open reading frame 153 2 breast(1)|lung(1) 2 CTCCAGTGAGGAACATCGTGC 0.398000 16 41 0 0 0.000958276 0 0 UGT1A7 54577 broad.mit.edu 37 2 234591056 234591056 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:234591056C>T ENST00000373426.3 + 1 473 c.473C>T c.(472-474)gCc>gTc p.A158V UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TTAATTGTTGCCAAATATTTC 0.438000 62 162 0 0 0.000781405 0 0 OR2A25 392138 broad.mit.edu 37 7 143771684 143771684 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143771684C>T ENST00000408898.2 + 1 410 c.372C>T c.(370-372)gcC>gcT p.A124A NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 124 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) GGTACGTGGCCATCTGCCACC 0.478000 25 76 0 0 0.000720815 0 0 NACA 4666 broad.mit.edu 37 12 57112116 57112116 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57112116G>A ENST00000454682.1 - 3 3479 c.3198C>T c.(3196-3198)tcC>tcT p.S1066S NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTCCTTTTGGGGAGGGAAGAG 0.662000 T BCL6 NHL 10 27 0 0 0.000673444 0 0 STXBP5L 9515 broad.mit.edu 37 3 120924828 120924828 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:120924828A>T ENST00000273666.6 + 10 1207 c.936A>T c.(934-936)gaA>gaT p.E312D STXBP5L_ENST00000472879.1_Missense_Mutation_p.E312D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E312D|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E312D|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E312D NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 312 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) TTAAAGTAGAATACAAGACCT 0.279000 27 44 0 0 0.00209593 0 0 DNAH11 8701 broad.mit.edu 37 7 21827025 21827025 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:21827025G>A ENST00000328843.6 + 61 9800 c.9769G>A c.(9769-9771)Gat>Aat p.D3257N DNAH11_ENST00000409508.3_Missense_Mutation_p.D3250N Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3257 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 GCAGGTTGATGATTTTTTGCA 0.343000 Kartagener syndrome 15 49 0 0 0.00152264 0 0 PRR16 51334 broad.mit.edu 37 5 120022286 120022286 + Missense_Mutation SNP G G A rs148660943 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:120022286G>A ENST00000379551.2 + 3 1085 c.728G>A c.(727-729)gGa>gAa p.G243E PRR16_ENST00000407149.2_Missense_Mutation_p.G266E|PRR16_ENST00000505123.1_Missense_Mutation_p.G196E|PRR16_ENST00000446965.1_Missense_Mutation_p.G196E NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 266 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GAAAATGGGGGAATGGGAATA 0.542000 11 26 0 0 0.00136819 0 0 MYH7B 57644 broad.mit.edu 37 20 33589751 33589751 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:33589751G>A ENST00000262873.7 + 42 5895 c.5802_splice c.e42-1 p.E1935_splice NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1893 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) GTGCCCCCAGGAGCAGCAGGC 0.612000 19 46 0 0 0.00047179 0 0 DGKK 139189 broad.mit.edu 37 X 50136221 50136221 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:50136221G>A ENST00000376025.2 - 0 1583 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) ATTTTCGGAGGAAGACGATCC 0.453000 17 7 0 0 0.00074312 0 0 TENM4 26011 broad.mit.edu 37 11 78412733 78412733 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:78412733A>G ENST00000278550.7 - 28 5387 c.4925T>C c.(4924-4926)cTg>cCg p.L1642P NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGGGACCACCAGCCAGAGGGG 0.547000 11 18 0 0 0.00136819 0 0 FRY 10129 broad.mit.edu 37 13 32802675 32802675 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:32802675C>T ENST00000380250.3 + 40 5785 c.5289C>T c.(5287-5289)atC>atT p.I1763I NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1763 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTCTAGCATCAGTCTGGGAG 0.542000 35 82 0 0 0.00283554 0 0 ZAN 7455 broad.mit.edu 37 7 100350287 100350287 + RNA SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100350287C>A ENST00000542585.1 + 0 2707 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCACCATCTCCACAGAAAAAC 0.493000 30 69 4.65686e-17 1.82168e-16 0.000692331 1 0 ZMYM4 9202 broad.mit.edu 37 1 35851166 35851166 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:35851166T>C ENST00000314607.6 + 10 1773 c.1693T>C c.(1693-1695)Tac>Cac p.Y565H ZMYM4_ENST00000373297.2_Intron NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 565 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTATCTGCTTACAGAGTTAA 0.343000 18 53 0 0 0.00152264 0 0 NBEAL1 65065 broad.mit.edu 37 2 203976774 203976774 + Nonsense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:203976774G>T ENST00000449802.1 + 15 2401 c.2068G>T c.(2068-2070)Gga>Tga p.G690* NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 690 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CTATGACAATGGACAACAGAA 0.418000 11 462 0.000978159 0.00378232 0.000978159 1 0 PSG5 5673 broad.mit.edu 37 19 43679591 43679591 + Missense_Mutation SNP G G A rs144866823 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43679591G>A ENST00000404580.1 - 4 828 c.740C>T c.(739-741)tCa>tTa p.S247L PSG5_ENST00000342951.6_Missense_Mutation_p.S247L|PSG5_ENST00000366175.3_Missense_Mutation_p.S247L|PSG5_ENST00000599812.1_Missense_Mutation_p.S340L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Missense_Mutation_p.S247L Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 247 Ig-like C2-type 2. female pregnancy extracellular region p.S247L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATAGGTGAATGAAGGGTAAAT 0.483000 52 136 0 0 0.000781405 0 0 TPTE2 93492 broad.mit.edu 37 13 20025365 20025365 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:20025365C>T ENST00000400230.2 - 11 786 c.741_splice c.e11-1 p.E248_splice TPTE2_ENST00000255310.6_Splice_Site_p.E171_splice|TPTE2_ENST00000457266.2_Splice_Site_p.E137_splice|TPTE2_ENST00000400103.2_Splice_Site_p.E137_splice|TPTE2_ENST00000390680.2_Splice_Site_p.E171_splice|TPTE2_ENST00000382975.4_Splice_Site_p.E208_splice|TPTE2_ENST00000382978.1_Splice_Site_p.E208_splice|TPTE2_ENST00000382977.4_Splice_Site_p.E248_splice Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 248 Phosphatase tensin-type. 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) CGCACAACTTCCTAAAAAAGA 0.333000 13 42 0 0 0.000308642 0 0 TG 7038 broad.mit.edu 37 8 134031881 134031881 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:134031881A>T ENST00000220616.4 + 39 6857 c.6817A>T c.(6817-6819)Acg>Tcg p.T2273S TG_ENST00000377869.1_Missense_Mutation_p.T2216S|TG_ENST00000519543.1_Missense_Mutation_p.T406S|TG_ENST00000542445.1_Missense_Mutation_p.T643S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2273 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGAACATCCACGTCTCCTGG 0.527000 20 33 0 0 0.00278032 0 0 TSSC1 7260 broad.mit.edu 37 2 3341912 3341912 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:3341912G>A ENST00000398659.4 - 3 275 c.135C>T c.(133-135)atC>atT p.I45I TSSC1_ENST00000382125.4_Silent_p.I45I|TSSC1_ENST00000443925.2_Silent_p.I45I Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 45 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) CAAAATCTATGATATGGATCT 0.388000 16 20 0 0 0.000422831 0 0 MTMR4 9110 broad.mit.edu 37 17 56581722 56581722 + Missense_Mutation SNP G G A rs144640723 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:56581722G>A ENST00000323456.5 - 13 1551 c.1427C>T c.(1426-1428)tCt>tTt p.S476F MTMR4_ENST00000579925.1_Missense_Mutation_p.S476F NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 476 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGATGAACAGAATCAAGCCA 0.493000 42 51 0 0 0.00195071 0 0 TBCK 93627 broad.mit.edu 37 4 107165818 107165818 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:107165818G>A ENST00000273980.4 - 12 1482 c.1035C>T c.(1033-1035)atC>atT p.I345I TBCK_ENST00000361687.4_Silent_p.I282I|TBCK_ENST00000394706.3_Silent_p.I306I|TBCK_ENST00000394708.2_Silent_p.I345I|TBCK_ENST00000432496.2_Silent_p.I345I Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 345 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TGGATCGAATGATTTCCTTGT 0.358000 45 74 0 0 0.000781405 0 0 MRPL20 55052 broad.mit.edu 37 1 1342368 1342368 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:1342368C>T ENST00000482352.1 - 2 191 c.119G>A c.(118-120)aGg>aAg p.R40K MRPL20_ENST00000344843.7_Missense_Mutation_p.R40K Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 40 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GACCGCCAACCTGTAGCAGCG 0.592000 79 88 0 0 0.000781405 0 0 VPS8 23355 broad.mit.edu 37 3 184577778 184577778 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:184577778G>A ENST00000287546.4 + 14 1320 c.1149G>A c.(1147-1149)aaG>aaA p.K383K VPS8_ENST00000446204.2_Silent_p.K381K|VPS8_ENST00000437079.3_Silent_p.K383K|VPS8_ENST00000436792.2_Silent_p.K381K NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 383 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) ATCAGGTAAAGAGAGATGAAT 0.323000 16 33 0 0 0.00074312 0 0 FAM167A 83648 broad.mit.edu 37 8 11301779 11301779 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11301779C>T ENST00000284486.4 - 2 680 c.142G>A c.(142-144)Gaa>Aaa p.E48K FAM167A_ENST00000528897.1_Missense_Mutation_p.E48K|FAM167A_ENST00000534308.1_Missense_Mutation_p.E48K NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 48 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 GCCTGCCATTCCAGGTAGGAG 0.706000 17 37 0 0 0.000958276 0 0 MUC16 94025 broad.mit.edu 37 19 9061272 9061272 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9061272C>T ENST00000397910.4 - 3 26377 c.26174G>A c.(26173-26175)aGa>aAa p.R8725K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8727 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 AGAAGCACTTCTCTCTGTTGC 0.512000 13 32 0 0 0.00244969 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188937 32188937 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32188937G>A ENST00000375023.3 - 4 755 c.617C>T c.(616-618)cCc>cTc p.P206L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 206 EGF-like 5; calcium-binding (Potential). P -> L (in dbSNP:rs2071282). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGTGCCTTTGGGGCAGGGTCC 0.652000 97 304 0 0 0.000781405 0 0 CES1 1066 broad.mit.edu 37 16 55862811 55862811 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:55862811C>T ENST00000422046.2 - 2 406 c.125G>A c.(124-126)gGa>gAa p.G42E CES1_ENST00000361503.4_Missense_Mutation_p.G42E|CES1_ENST00000360526.3_Missense_Mutation_p.G43E P23141 EST1_HUMAN carboxylesterase 1 42 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CTGTGCAAATCCTTCTAAGCT 0.562000 6 31 0 0 0.00198382 0 0 FAM46D 169966 broad.mit.edu 37 X 79698637 79698637 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:79698637C>T ENST00000538312.1 + 5 933 c.599C>T c.(598-600)cCt>cTt p.P200L FAM46D_ENST00000308293.5_Missense_Mutation_p.P200L NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 200 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GAATCCTATCCTGTTGTGGTA 0.403000 22 15 0 0 0.00229938 0 0 PRB3 5544 broad.mit.edu 37 12 11420974 11420974 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11420974C>T ENST00000381842.3 - 0 246 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) AGGTGGGGGACCTTGGGACTG 0.627000 37 118 0 0 0.00170553 0 0 SGPL1 8879 broad.mit.edu 37 10 72633179 72633179 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:72633179C>T ENST00000373202.3 + 12 1331 c.1131C>T c.(1129-1131)ttC>ttT p.F377F NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 377 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) ATCAGTTCTTCGTCGATACAG 0.502000 38 47 0 0 0.00222228 0 0 ITIH2 3698 broad.mit.edu 37 10 7745462 7745462 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:7745462C>T ENST00000358415.4 + 1 231 c.65C>T c.(64-66)cCc>cTc p.P22L ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.P22L 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 TTCGAAATCCCCATAAATGGA 0.413000 21 60 0 0 0.00188189 0 0 CPQ 10404 broad.mit.edu 37 8 97892214 97892214 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:97892214G>A ENST00000220763.5 + 4 1040 c.830G>A c.(829-831)gGg>gAg p.G277E NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 277 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GAGATCACTGGGAGCAAATAT 0.433000 41 103 0 0 0.00222228 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519598 113519598 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:113519598C>T ENST00000284601.3 - 4 1617 c.1549G>A c.(1549-1551)Gat>Aat p.D517N NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 517 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTTCTTCATCATCCTTACCA 0.328000 15 45 0 0 0.000308642 0 0 RASGRP3 25780 broad.mit.edu 37 2 33749041 33749041 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:33749041G>A ENST00000403687.3 + 8 1352 c.612G>A c.(610-612)tgG>tgA p.W204* RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.W204*|RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.W204* NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 204 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TCTCTAAGTGGGTCCAGTTGA 0.428000 56 150 0 0 0.000781405 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187673 11187673 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:11187673G>A ENST00000337414.4 - 9 2633 c.1761C>T c.(1759-1761)atC>atT p.I587I ARHGAP6_ENST00000380718.1_Silent_p.I587I|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.I619I|ARHGAP6_ENST00000413512.3_Silent_p.I396I|ARHGAP6_ENST00000534860.1_Silent_p.I412I|ARHGAP6_ENST00000380736.1_Silent_p.I384I|ARHGAP6_ENST00000303025.6_Silent_p.I384I NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 587 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity p.I587I(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CAACAGCGATGATGGCCGTGC 0.493000 25 21 0 0 0.00047179 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65811142 65811142 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:65811142G>A ENST00000312006.4 - 3 413 c.132C>T c.(130-132)ccC>ccT p.P44P GAL3ST3_ENST00000527878.1_Silent_p.P44P NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 44 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGAACAGCTTGGGGTACCTGC 0.662000 5 3 0 0 0.000157383 0 0 F7 2155 broad.mit.edu 37 13 113771786 113771786 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113771786G>A ENST00000375581.3 + 8 716 c.e8-1 F7_ENST00000541084.1_Splice_Site|F7_ENST00000346342.3_Splice_Site NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 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;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CCCCCGCCCAGGTCCTGTTGT 0.557000 19 41 0 0 0.00188189 0 0 OR2J2 26707 broad.mit.edu 37 6 29142018 29142018 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29142018C>T ENST00000377167.2 + 1 708 c.606C>T c.(604-606)gtC>gtT p.V202V NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CCCTCATGGTCATGAGCTCCA 0.478000 28 117 0 0 0.000878237 0 0 PLOD2 5352 broad.mit.edu 37 3 145822082 145822082 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:145822082G>A ENST00000282903.5 - 6 840 c.663C>T c.(661-663)acC>acT p.T221T RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Silent_p.T166T|PLOD2_ENST00000360060.3_Silent_p.T221T NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 221 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 binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) CTCCATTTAAGGTCTGGAAAA 0.328000 30 74 0 0 0.000814825 0 0 AKR1C1 1645 broad.mit.edu 37 10 5014477 5014477 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:5014477C>T ENST00000380872.4 + 6 847 c.655C>T c.(655-657)Ctg>Ttg p.L219L AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Silent_p.L219L NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 CTATAGTGCTCTGGGATCCCA 0.408000 20 42 0 0 0.00188189 0 0 ZNF655 79027 broad.mit.edu 37 7 99169387 99169387 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:99169387T>A ENST00000425063.1 + 4 401 c.299T>A c.(298-300)cTa>cAa p.L100Q ZNF655_ENST00000493277.1_Silent_p.T71T|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Silent_p.T71T|ZNF655_ENST00000454654.1_Missense_Mutation_p.L100Q|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000252713.4_Intron Q8N720 ZN655_HUMAN zinc finger protein 655 0 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) AAACTAAGACTAGAGAAGTCT 0.428000 4 9 0 0 0.00116845 0 0 RPTN 126638 broad.mit.edu 37 1 152127456 152127456 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152127456C>T ENST00000316073.3 - 3 2183 c.2119G>A c.(2119-2121)Gaa>Aaa p.E707K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 707 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 CCCTGCTCTTCCTCTGCCCAG 0.562000 54 117 0 0 0.000781405 0 0 TRHDE 29953 broad.mit.edu 37 12 73012704 73012704 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:73012704G>A ENST00000261180.4 + 13 2316 c.2220G>A c.(2218-2220)gaG>gaA p.E740E TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 740 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 TTCCTCTGGAGATTATCAGAT 0.388000 30 69 0 0 0.00178596 0 0 PCDHA8 56140 broad.mit.edu 37 5 140220910 140220910 + Missense_Mutation SNP G G A rs111298048 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140220910G>A ENST00000531613.1 + 1 4 c.4G>A c.(4-6)Gat>Aat p.D2N PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D2N NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTAACATGGATTATCACTG 0.473000 26 66 0 0 0.001512 0 0 GCLC 2729 broad.mit.edu 37 6 53363632 53363632 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:53363632T>A ENST00000229416.6 - 16 2319 c.1836A>T c.(1834-1836)ttA>ttT p.L612F NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 612 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) GGCATTCACATAATTCATTTG 0.338000 44 106 0 0 0.000680045 0 0 TSPAN32 10077 broad.mit.edu 37 11 2339110 2339110 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:2339110C>T ENST00000182290.4 + 10 1056 c.919C>T c.(919-921)Cgc>Tgc p.R307C TSPAN32_ENST00000451520.2_Missense_Mutation_p.R296C|TSPAN32_ENST00000381121.3_Missense_Mutation_p.S246L NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 307 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) gggcagaagtcgcggtgggct 0.587000 7 16 0 0 0.000673444 0 0 LPA 4018 broad.mit.edu 37 6 160963746 160963746 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:160963746C>T ENST00000447678.1 - 35 5613 c.5493G>A c.(5491-5493)tgG>tgA p.W1831* LPA_ENST00000316300.5_Nonsense_Mutation_p.W1831*|LPA_ENST00000484276.1_5'UTR NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4339 Kringle 16. 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) CTTGCCAGGGCCAGGAATGTG 0.507000 19 47 0 0 0.00121646 0 0 E2F1 1869 broad.mit.edu 37 20 32264940 32264940 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:32264940G>A ENST00000343380.5 - 6 1176 c.1037C>T c.(1036-1038)cCc>cTc p.P346L NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 346 Required for interaction with TRIM28. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 AGACTGGCTGGGATCTGTGGT 0.637000 10 29 0 0 0.00136819 0 0 OBSCN 84033 broad.mit.edu 37 1 228473846 228473846 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:228473846C>T ENST00000570156.2 + 39 10433 c.10359C>T c.(10357-10359)ttC>ttT p.F3453F OBSCN_ENST00000422127.1_Silent_p.F3024F|OBSCN_ENST00000284548.11_Silent_p.F3024F|OBSCN_ENST00000366709.4_Silent_p.F143F|OBSCN_ENST00000366707.4_Silent_p.F143F|OBSCN_ENST00000359599.6_Silent_p.F1871F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2488 Ig-like 35. 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) CGGCCACCTTCCGTTGCCGGA 0.632000 6 10 0 0 0.00198382 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95454674 95454674 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:95454674G>A ENST00000359204.4 - 5 437 c.240C>T c.(238-240)ttC>ttT p.F80F FRA10AC1_ENST00000371430.2_Silent_p.F80F|FRA10AC1_ENST00000536233.1_Silent_p.F80F|FRA10AC1_ENST00000394100.2_Silent_p.F80F NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 80 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 AGTCATTTACGAACTTTGTAT 0.333000 52 83 0 0 0.000781405 0 0 MAATS1 89876 broad.mit.edu 37 3 119466664 119466664 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:119466664C>T ENST00000273390.5 + 16 2135 c.2058C>T c.(2056-2058)acC>acT p.T686T RP11-169N13.4_ENST00000489428.2_RNA NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 TTAGCCGAACCTATCTTCAGT 0.343000 18 26 0 0 0.00152264 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502338 220502338 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:220502338C>T ENST00000358055.3 + 17 3083 c.2571C>T c.(2569-2571)ccC>ccT p.P857P SLC4A3_ENST00000373760.2_Silent_p.P857P|SLC4A3_ENST00000273063.6_Silent_p.P884P|SLC4A3_ENST00000317151.3_Silent_p.P857P|SLC4A3_ENST00000373762.3_Silent_p.P884P P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 857 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTTCTACCCCCCTGAGGGGG 0.637000 8 22 0 0 0.000157383 0 0 DYNAP 284254 broad.mit.edu 37 18 52262317 52262317 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:52262317G>A ENST00000321600.1 + 2 329 c.283G>A c.(283-285)Gaa>Aaa p.E95K DYNAP_ENST00000585973.1_Intron NM_173629.1 NP_775900.1 dynactin associated protein TCTACAGTCAGAATCCTGTAA 0.433000 34 84 0 0 0.00111076 0 0 DNAH3 55567 broad.mit.edu 37 16 21115824 21115824 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21115824C>T ENST00000261383.3 - 16 2333 c.2334G>A c.(2332-2334)aaG>aaA p.K778K DNAH3_ENST00000415178.1_Silent_p.K778K NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 778 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCTGATCCCTCTTGTGAAGGA 0.473000 55 141 0 0 0.000781405 0 0 PXDNL 137902 broad.mit.edu 37 8 52359645 52359645 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:52359645C>T ENST00000356297.4 - 12 1544 c.1444G>A c.(1444-1446)Gat>Aat p.D482N PXDNL_ENST00000543296.1_Missense_Mutation_p.D482N NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 482 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) TGGCCTTGATCGTGCTGTGCT 0.473000 41 98 0 0 0.000781405 0 0 TRIM69 140691 broad.mit.edu 37 15 45047536 45047536 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:45047536G>A ENST00000559390.1 + 3 1373 c.445G>A c.(445-447)Gag>Aag p.E149K TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.E149K|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR Q86WT6 TRI69_HUMAN tripartite motif containing 69 149 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) GCAGTCTAAGGAGTTCCTGCA 0.473000 14 18 0 0 0.00244969 0 0 PDLIM5 10611 broad.mit.edu 37 4 95494539 95494539 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:95494539C>T ENST00000317968.4 + 4 422 c.286C>T c.(286-288)Caa>Taa p.Q96* PDLIM5_ENST00000450793.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000538141.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000508216.1_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000318007.5_Nonsense_Mutation_p.Q96*|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000380180.3_Nonsense_Mutation_p.Q96* NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 96 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GGTTCCTGTTCAAAAGGTGTG 0.383000 33 74 0 0 0.000692331 0 0 SPTBN4 57731 broad.mit.edu 37 19 40993709 40993709 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40993709G>A ENST00000352632.3 + 3 361 c.275G>A c.(274-276)gGc>gAc p.G92D SPTBN4_ENST00000338932.3_Missense_Mutation_p.G92D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G92D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G92D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G92D Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 92 Actin-binding.|CH 1. 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) CTCCGGGACGGCTTCGTGCTC 0.672000 12 30 0 0 0.00136819 0 0 SEZ6L 23544 broad.mit.edu 37 22 26694973 26694973 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26694973C>T ENST00000529632.2 + 5 1382 c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S SEZ6L_ENST00000360929.3_Missense_Mutation_p.P396S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P396S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P396S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P396S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P169S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P169S 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 396 Sushi 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGCAACTTTCCCCGCCGGCC 0.592000 14 28 0 0 0.000566183 0 0 CYP4F22 126410 broad.mit.edu 37 19 15648426 15648426 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15648426C>T ENST00000269703.2 + 6 701 c.502C>T c.(502-504)Ctg>Ttg p.L168L CYP4F22_ENST00000601005.2_Silent_p.L168L NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 168 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CTTTGACATCCTGAAGCCTTA 0.567000 24 66 0 0 0.00278032 0 0 MUC16 94025 broad.mit.edu 37 19 9046066 9046066 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9046066C>T ENST00000397910.4 - 5 35768 c.35565G>A c.(35563-35565)ggG>ggA p.G11855G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11857 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 TGGTTTCTGTCCCTGGATGGG 0.488000 31 66 0 0 0.00209593 0 0 ARMC4 55130 broad.mit.edu 37 10 28273152 28273152 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:28273152C>T ENST00000305242.5 - 5 735 c.643G>A c.(643-645)Gga>Aga p.G215R ARMC4_ENST00000239715.3_Missense_Mutation_p.G72R NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 215 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTTTGGTTTCCTTTTCCTGAG 0.308000 46 125 0 0 0.000781405 0 0 ENAM 10117 broad.mit.edu 37 4 71510045 71510045 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71510045G>A ENST00000396073.3 + 9 3183 c.2902G>A c.(2902-2904)Gaa>Aaa p.E968K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 968 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) GGGCCAAAAGGAAATTATGCC 0.433000 19 64 0 0 0.00152264 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192458 133192458 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133192458G>A ENST00000388996.4 - 4 1143 c.723C>T c.(721-723)gaC>gaT p.D241D KCNQ3_ENST00000521134.1_Silent_p.D121D|KCNQ3_ENST00000519445.1_Silent_p.D241D NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 241 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) CACCTCTCCGGTCCATCCGCA 0.602000 14 52 0 0 0.00185496 0 0 ZNF555 148254 broad.mit.edu 37 19 2853213 2853213 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:2853213C>T ENST00000334241.4 + 4 1288 c.1150C>T c.(1150-1152)Cga>Tga p.R384* AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Nonsense_Mutation_p.R383* NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) CCAGTCCTTTCGAAGACATGA 0.478000 9 23 0 0 0.000442599 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173185 207173185 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:207173185G>A ENST00000374423.3 + 5 4319 c.3933G>A c.(3931-3933)agG>agA p.R1311R NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1311 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 ATCTTTTGAGGGAGGAACATG 0.363000 12 32 0 0 0.00185496 0 0 MED13L 23389 broad.mit.edu 37 12 116445418 116445418 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:116445418C>A ENST00000281928.3 - 11 2242 c.2036G>T c.(2035-2037)cGg>cTg p.R679L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 679 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.R679L(1) 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) GATTTTAAACCGTTTGTTAGG 0.368000 6 138 0.00198382 0.00762708 0.00198382 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558795 140558795 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140558795C>T ENST00000239444.2 + 1 1425 c.1180C>T c.(1180-1182)Ctg>Ttg p.L394L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 394 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCTTCCTCCTGAAATCTTC 0.458000 26 110 0 0 0.00047179 0 0 SCAF1 58506 broad.mit.edu 37 19 50149840 50149840 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50149840C>T ENST00000360565.3 + 5 443 c.319C>T c.(319-321)Ccg>Tcg p.P107S NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 107 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CCTGGATCCCCCGGATACCTG 0.657000 21 37 0 0 0.000586117 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724243 7724243 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:7724243G>A ENST00000303635.7 + 9 1843 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K CAMTA1_ENST00000439411.2_Missense_Mutation_p.E546K NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GATGGCCAAAGAAGCGTACTC 0.682000 T WWTR1 epitheliod hemangioendothelioma 27 12 0 0 0.00178596 0 0 FAM135B 51059 broad.mit.edu 37 8 139190802 139190802 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:139190802G>A ENST00000395297.1 - 10 1175 c.1005C>T c.(1003-1005)ctC>ctT p.L335L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 335 p.L335L(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTTCCTGGGTGAGATAAGTGG 0.498000 HNSCC(54;0.14) 17 37 0 0 0.00152264 0 0 ANK1 286 broad.mit.edu 37 8 41519069 41519069 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:41519069C>T ENST00000396942.1 - 42 5716 c.5633G>A c.(5632-5634)gGg>gAg p.G1878E RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000265709.8_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.G128E|ANK1_ENST00000352337.4_Missense_Mutation_p.G1831E|ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000522543.1_Intron|ANK1_ENST00000396945.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.G1853E P16157 ANK1_HUMAN ankyrin 1, erythrocytic 0 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TAGGCCACTCCCTCTCAGCTC 0.607000 17 54 0 0 0.00229938 0 0 CHTOP 26097 broad.mit.edu 37 1 153617696 153617696 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153617696C>T ENST00000368694.3 + 6 1010 c.698C>T c.(697-699)gCt>gTt p.A233V CHTOP_ENST00000403433.1_Missense_Mutation_p.A187V|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368687.1_Missense_Mutation_p.A208V|CHTOP_ENST00000368690.3_Missense_Mutation_p.A187V NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 CACCTGGATGCTGAGTTGGAT 0.502000 21 40 0 0 0.00229938 0 0 COL6A6 131873 broad.mit.edu 37 3 130285619 130285619 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:130285619C>T ENST00000358511.6 + 4 1387 c.1356C>T c.(1354-1356)ttC>ttT p.F452F COL6A6_ENST00000453409.2_Silent_p.F452F NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 452 Nonhelical region.|VWFA 3. 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 CCACAGATTTCCATGAAATGA 0.498000 19 55 0 0 0.00074312 0 0 RBM44 375316 broad.mit.edu 37 2 238738075 238738075 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:238738075C>T ENST00000316997.4 + 13 2951 c.2819C>T c.(2818-2820)tCt>tTt p.S940F RBM44_ENST00000409864.1_Missense_Mutation_p.S940F NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 939 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TTCTCCATTTCTAGATTGCCC 0.413000 41 107 0 0 0.00195071 0 0 OR52D1 390066 broad.mit.edu 37 11 5510709 5510709 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5510709C>T ENST00000322641.5 + 1 795 c.773C>T c.(772-774)gCc>gTc p.A258V HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 258 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) TACATCCCTGCCTTCTTCTCC 0.517000 27 44 0 0 0.00106085 0 0 GPR98 84059 broad.mit.edu 37 5 89989931 89989931 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:89989931C>T ENST00000405460.2 + 33 7454 c.7358C>T c.(7357-7359)tCa>tTa p.S2453L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2453 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) TCAGCGTTTTCATTTTTCAGT 0.493000 16 17 0 0 0.00074312 0 0 SHANK2 22941 broad.mit.edu 37 11 70333102 70333102 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:70333102G>A ENST00000338508.4 - 32 3298 c.3299C>T c.(3298-3300)tCc>tTc p.S1100F SHANK2_ENST00000423696.2_Missense_Mutation_p.S720F|SHANK2_ENST00000449833.2_Missense_Mutation_p.S504F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S503F Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 720 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GAAGGCCGGGGAGTTCCTCCT 0.697000 9 12 0 0 0.000274275 0 0 PPT1 5538 broad.mit.edu 37 1 40557736 40557736 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:40557736A>G ENST00000433473.3 - 3 807 c.343T>C c.(343-345)Tcc>Ccc p.S115P PPT1_ENST00000449045.2_Intron NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 115 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTCCCTGGGAGAATCCCATA 0.388000 34 63 0 0 0.00128727 0 0 IFIT1B 439996 broad.mit.edu 37 10 91143846 91143846 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:91143846A>G ENST00000371809.3 + 2 856 c.776A>G c.(775-777)aAg>aGg p.K259R LIPA_ENST00000371837.1_Intron NM_001010987.2 NP_001010987.1 Q5T764 IFT1B_HUMAN interferon-induced protein with tetratricopeptide repeats 1B 259 binding endometrium(2)|large_intestine(3)|lung(8) 13 TATGCAGCCAAGTTTTATCGA 0.443000 51 71 0 0 0.000781405 0 0 FAM160B1 57700 broad.mit.edu 37 10 116606378 116606378 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:116606378C>T ENST00000369248.4 + 11 1794 c.1459C>T c.(1459-1461)Ctt>Ttt p.L487F FAM160B1_ENST00000369250.3_Missense_Mutation_p.L487F NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 487 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TGAGCACATTCTTTACAACTT 0.308000 21 19 0 0 0.00152264 0 0 SCAI 286205 broad.mit.edu 37 9 127828290 127828290 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:127828290C>T ENST00000373549.4 - 3 204 c.146G>A c.(145-147)aGa>aAa p.R49K SCAI_ENST00000336505.5_Intron NM_173690.4 NP_775961.2 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion 32 Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1) 35 atgttgatatctttccccttg 0.294000 59 84 0 0 0.000781405 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532997 84532997 + RNA SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:84532997T>C ENST00000527857.1 + 0 3019 NR_026851.1 TCTCCTCACCTATTGGCAAAG 0.478000 33 29 0 0 0.00148497 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830535 7830535 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:7830535C>T ENST00000327325.5 + 4 344 c.226C>T c.(226-228)Ccc>Tcc p.P76S CLEC4M_ENST00000359059.5_Missense_Mutation_p.P55S|CLEC4M_ENST00000597522.1_Missense_Mutation_p.P76S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P55S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P48S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.P48S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P64S|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P76S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P55S|CLEC4M_ENST00000357361.2_Missense_Mutation_p.P76S NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 76 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 GTCCAAGGTCCCCAGCTCCCT 0.498000 16 69 0 0 0.000958276 0 0 ANO2 57101 broad.mit.edu 37 12 5848555 5848555 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:5848555G>A ENST00000327087.8 - 13 1421 c.1350C>T c.(1348-1350)ttC>ttT p.F450F ANO2_ENST00000356134.5_Silent_p.F451F|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Silent_p.F451F Q9NQ90 ANO2_HUMAN anoctamin 2 455 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 AGTTTTCCAGGAACATGGTAG 0.438000 7 10 0 0 0.00198382 0 0 SERAC1 84947 broad.mit.edu 37 6 158535902 158535902 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:158535902G>A ENST00000367104.3 - 15 1734 c.1603C>T c.(1603-1605)Cat>Tat p.H535Y SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR NM_032861.3 NP_116250.3 Q96JX3 SRAC1_HUMAN serine active site containing 1 535 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CGTGATCCATGATGAGGGACA 0.383000 74 174 0 0 0.000781405 0 0 ZNF728 388523 broad.mit.edu 37 19 23159500 23159500 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:23159500G>A ENST00000594710.1 - 4 784 c.639C>T c.(637-639)tcC>tcT p.S213S NM_001267716.1 NP_001254645.1 zinc finger protein 728 TAAGGGCTGAGGACCAGTTAA 0.368000 12 36 0 0 0.00136819 0 0 ACACA 31 broad.mit.edu 37 17 35578713 35578713 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:35578713G>A ENST00000353139.5 - 29 4096 c.3615C>T c.(3613-3615)caC>caT p.H1205H ACACA_ENST00000360679.3_Silent_p.H1110H|ACACA_ENST00000335166.5_Silent_p.H1090H|ACACA_ENST00000394406.2_Silent_p.H1168H NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1168 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAAGCTGGCGGTGTTGTACGC 0.438000 21 77 0 0 0.00229938 0 0 OR9A4 130075 broad.mit.edu 37 7 141619260 141619260 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141619260G>A ENST00000548136.1 + 1 644 c.585G>A c.(583-585)acG>acA p.T195T MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CTCTTTTCACGGAGTTTATCC 0.388000 39 113 0 0 0.00128727 0 0 QRICH2 84074 broad.mit.edu 37 17 74287969 74287969 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:74287969A>T ENST00000262765.5 - 4 2520 c.2341T>A c.(2341-2343)Tat>Aat p.Y781N NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 781 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TCATGCAAATATGCACCAGGT 0.502000 52 143 0 0 0.000781405 0 0 OR2F1 26211 broad.mit.edu 37 7 143657982 143657982 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143657982A>G ENST00000392899.1 + 1 956 c.919A>G c.(919-921)Aaa>Gaa p.K307E NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 307 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) ACTATTATGGAAATTCTCTGG 0.433000 14 48 0 0 0.00185496 0 0 BCR 613 broad.mit.edu 37 22 23524071 23524071 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:23524071C>T ENST00000305877.8 + 1 1675 c.924C>T c.(922-924)cgC>cgT p.R308R BCR_ENST00000398512.5_Silent_p.R308R|BCR_ENST00000359540.3_Silent_p.R308R NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 308 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 AGGAGAAGCGCCTTACCTGGC 0.642000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 10 19 0 0 0.000673444 0 0 SLC34A1 6569 broad.mit.edu 37 5 176812783 176812783 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176812783C>T ENST00000324417.5 + 2 132 c.41C>T c.(40-42)tCc>tTc p.S14F SLC34A1_ENST00000512593.1_Missense_Mutation_p.S14F NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 14 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) CCTGCTGTCTCCCCACTCCCA 0.622000 8 17 0 0 0.000442599 0 0 OR52A5 390054 broad.mit.edu 37 11 5152977 5152977 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5152977G>A ENST00000307388.1 - 1 895 c.896C>T c.(895-897)aCc>aTc p.T299I NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AATTTGCTTGGTCTTCACTCC 0.363000 15 50 0 0 0.000422831 0 0 MYOM1 8736 broad.mit.edu 37 18 3126851 3126851 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:3126851G>A ENST00000356443.4 - 19 3172 c.2839C>T c.(2839-2841)Cgt>Tgt p.R947C MYOM1_ENST00000261606.7_Missense_Mutation_p.R851C|MYOM1_ENST00000400569.3_Missense_Mutation_p.R947C|MYOM1_ENST00000582016.1_5'UTR NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 947 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle p.R947C(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTGAGTCACGAAAACTTTCA 0.423000 5 15 0 0 0.00116845 0 0 LRP1 4035 broad.mit.edu 37 12 57597059 57597059 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57597059G>A ENST00000243077.3 + 69 11273 c.10807G>A c.(10807-10809)Ggc>Agc p.G3603S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3603 LDL-receptor class A 27. 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) CTGCGCGGACGGCTCGGACGA 0.672000 5 9 0 0 0.000602214 0 0 SLC26A7 115111 broad.mit.edu 37 8 92352659 92352659 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:92352659G>A ENST00000276609.3 + 8 1145 c.906G>A c.(904-906)atG>atA p.M302I SLC26A7_ENST00000309536.2_Missense_Mutation_p.M302I|SLC26A7_ENST00000523719.1_Missense_Mutation_p.M302I NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 302 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) CTCCCCCGATGAACATCCTCT 0.438000 29 68 0 0 0.00283554 0 0 OR7G3 390883 broad.mit.edu 37 19 9237102 9237102 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9237102G>A ENST00000305444.2 - 1 524 c.525C>T c.(523-525)ccC>ccT p.P175P NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 AGAAAAAGTGGGGAATTTCCA 0.488000 16 48 0 0 0.000308642 0 0 FTSJ3 117246 broad.mit.edu 37 17 61903470 61903470 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:61903470A>G ENST00000427159.2 - 5 891 c.246T>C c.(244-246)ccT>ccC p.P82P NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 82 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CATTGGGGAGAGGCTTGATTG 0.468000 97 104 0 0 0.000781405 0 0 KLF7 8609 broad.mit.edu 37 2 207953206 207953206 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:207953206G>A ENST00000309446.6 - 3 1209 c.833C>T c.(832-834)cCc>cTc p.P278L KLF7_ENST00000458272.1_Missense_Mutation_p.P88L|KLF7_ENST00000421199.1_Missense_Mutation_p.P245L|KLF7_ENST00000423015.1_Missense_Mutation_p.P211S|KLF7_ENST00000412414.2_Missense_Mutation_p.P250L|KLF7_ENST00000467833.1_5'UTR NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 278 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) GCATTTGAAGGGCTTTGCACC 0.537000 25 70 0 0 0.000586117 0 0 B3GNT4 79369 broad.mit.edu 37 12 122690864 122690864 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:122690864G>A ENST00000546192.1 + 2 121 c.e2-1 B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000324189.4_Splice_Site|B3GNT4_ENST00000545141.1_Intron Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TCTCCTTGCAGGGACCGGCGA 0.662000 11 23 0 0 0.00136819 0 0 CDK20 23552 broad.mit.edu 37 9 90584726 90584726 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:90584726G>A ENST00000375883.3 - 5 915 c.609C>T c.(607-609)aaC>aaT p.N203N CDK20_ENST00000336654.5_Silent_p.N216N|CDK20_ENST00000325303.8_Silent_p.N224N|CDK20_ENST00000605159.1_Silent_p.N203N|CDK20_ENST00000375871.4_Intron NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 224 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 AGACTTGAGGGTTTGGGGTGC 0.567000 14 48 0 0 0.000308642 0 0 HAP1 9001 broad.mit.edu 37 17 39881380 39881380 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39881380C>T ENST00000393939.2 - 10 1367 c.1358G>A c.(1357-1359)cGa>cAa p.R453Q JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R461Q|HAP1_ENST00000310778.5_Missense_Mutation_p.R530Q|HAP1_ENST00000347901.4_Missense_Mutation_p.R478Q P54257 HAP1_HUMAN huntingtin-associated protein 1 477 Glu-rich.|HAP1 N-terminal. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CACCTGCTCTCGATCCTCACT 0.607000 92 121 0 0 0.000781405 0 0 C2orf71 388939 broad.mit.edu 37 2 29293647 29293647 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:29293647C>T ENST00000331664.5 - 1 3480 c.3481G>A c.(3481-3483)Gaa>Aaa p.E1161K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1161 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 TTCCAGCATTCTGCTGGGTTC 0.622000 14 22 0 0 0.00244969 0 0 TRANK1 9881 broad.mit.edu 37 3 36874203 36874203 + Missense_Mutation SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:36874203C>G ENST00000429976.2 - 21 6986 c.6739G>C c.(6739-6741)Gaa>Caa p.E2247Q TRANK1_ENST00000301807.6_Missense_Mutation_p.E1697Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1697Q O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2247 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 TTGAGGATTTCTTTGCATGCC 0.433000 35 28 0 0 0.00222228 0 0 TSNARE1 203062 broad.mit.edu 37 8 143412303 143412303 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:143412303G>A ENST00000519651.1 - 4 298 c.195C>T c.(193-195)tcC>tcT p.S65S TSNARE1_ENST00000520166.1_Silent_p.S284S|TSNARE1_ENST00000307180.3_Silent_p.S284S|TSNARE1_ENST00000524325.1_Silent_p.S284S Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 284 vesicle-mediated transport integral to membrane p.S284S(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTGTCCCTAAGGACTGAAGGC 0.627000 9 32 0 0 0.00136819 0 0 PRB3 5544 broad.mit.edu 37 12 11420818 11420818 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:11420818C>T ENST00000381842.3 - 0 402 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TGGGGGTGGTCCTTCTGGCTT 0.637000 36 65 0 0 0.000781405 0 0 MAGI1 9223 broad.mit.edu 37 3 65439006 65439006 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:65439006C>T ENST00000330909.8 - 6 968 c.969G>A c.(967-969)acG>acA p.T323T MAGI1_ENST00000402939.2_Silent_p.T323T|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Silent_p.T323T|MAGI1_ENST00000483466.1_Silent_p.T323T NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 323 WW 1. 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) ATGTTGTTTTCGTGTTATGGC 0.403000 38 80 0 0 0.00148497 0 0 TXNDC11 51061 broad.mit.edu 37 16 11785896 11785896 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:11785896G>A ENST00000356957.3 - 9 1338 c.1231C>T c.(1231-1233)Cag>Tag p.Q411* TXNDC11_ENST00000283033.5_Nonsense_Mutation_p.Q384* Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 411 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TCCACCACCTGGTCCCCATGA 0.617000 15 20 0 0 0.000566183 0 0 COL5A2 1290 broad.mit.edu 37 2 189931166 189931166 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:189931166G>A ENST00000374866.3 - 23 1787 c.1513C>T c.(1513-1515)Ccc>Tcc p.P505S NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 505 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) TCACCTCTGGGACCTCTTTTG 0.483000 77 122 0 0 0.000781405 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12888155 12888155 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:12888155G>A ENST00000379672.5 + 20 2547 c.2247G>A c.(2245-2247)tcG>tcA p.S749S ARHGAP44_ENST00000340825.3_Silent_p.S743S|ARHGAP44_ENST00000262444.9_Silent_p.S749S NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 749 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TAAACCTCTCGGCCTCTAGTC 0.567000 13 21 0 0 0.00244969 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061655 13061655 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13061655A>G ENST00000014914.5 + 2 1362 c.472A>G c.(472-474)Aat>Gat p.N158D GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 158 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CCTGACCATGAATAGGACCAA 0.517000 57 145 0 0 0.000781405 0 0 MRAP2 112609 broad.mit.edu 37 6 84765138 84765138 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84765138C>T ENST00000257776.4 + 2 236 c.101C>T c.(100-102)tCc>tTc p.S34F NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 34 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 GGACCAGTTTCCTTTGAAGGA 0.373000 17 40 0 0 0.000958276 0 0 NCOR2 9612 broad.mit.edu 37 12 124831144 124831144 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:124831144G>A ENST00000356219.3 - 32 4501 c.4346C>T c.(4345-4347)gCc>gTc p.A1449V NCOR2_ENST00000429285.2_Missense_Mutation_p.A1432V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A1442V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A1432V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A1433V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1003V NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1450 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGGCCGCGGGGCCAGGGGCAG 0.731000 4 9 0 0 0.00024832 0 0 PRSS38 339501 broad.mit.edu 37 1 228033728 228033728 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:228033728G>A ENST00000366757.3 + 5 824 c.800G>A c.(799-801)cGa>cAa p.R267Q NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 267 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGCTGGGGCCGAGGCTGCTCC 0.512000 18 30 0 0 0.00074312 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 6 25 0 0 0.00116845 0 0 BTBD1 53339 broad.mit.edu 37 15 83718904 83718904 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:83718904A>G ENST00000261721.4 - 3 787 c.585T>C c.(583-585)ctT>ctC p.L195L BTBD1_ENST00000379403.2_Silent_p.L195L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 195 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) AAAGACTAGCAAGCTGAGGTT 0.308000 46 24 0 0 0.000781405 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989510 121989510 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121989510G>A ENST00000263707.5 - 13 1330 c.1233C>T c.(1231-1233)acC>acT p.T411T NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 411 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) TCAGCTCCAAGGTGGTCAGCT 0.597000 19 56 0 0 0.00229938 0 0 FAM127A 8933 broad.mit.edu 37 X 134166497 134166497 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:134166497C>T ENST00000257013.7 + 1 165 c.84C>T c.(82-84)ccC>ccT p.P28P FAM127A_ENST00000464369.1_3'UTR NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 28 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) ACCCGATTCCCTTTCCCGAGA 0.632000 28 16 0 0 0.001512 0 0 OR2H1 26716 broad.mit.edu 37 6 29430458 29430458 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29430458G>A ENST00000377136.1 + 4 1377 c.912G>A c.(910-912)ggG>ggA p.G304G OR2H1_ENST00000396792.2_Silent_p.G304G|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.G304G|OR2H1_ENST00000377133.1_Silent_p.G304G|OR2H1_ENST00000442615.1_Silent_p.G304G Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GGTTACTAGGGAAGGAAAGAG 0.433000 10 47 0 0 0.00136819 0 0 TSSK2 23617 broad.mit.edu 37 22 19119524 19119524 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:19119524G>A ENST00000399635.2 + 1 1204 c.612G>A c.(610-612)gtG>gtA p.V204V DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 204 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) GCCTGGGCGTGATCCTGTACA 0.597000 19 51 0 0 0.000958276 0 0 SLC44A5 204962 broad.mit.edu 37 1 75681480 75681480 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:75681480C>T ENST00000370855.5 - 19 1800 c.1687G>A c.(1687-1689)Gaa>Aaa p.E563K SLC44A5_ENST00000370859.3_Missense_Mutation_p.E563K|SLC44A5_ENST00000535611.1_Missense_Mutation_p.E433K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 563 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 ATTGCATTTTCCAAACACCAG 0.338000 28 74 0 0 0.000692331 0 0 SLC6A15 55117 broad.mit.edu 37 12 85277535 85277535 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:85277535T>A ENST00000450363.3 - 5 1317 c.859A>T c.(859-861)Act>Tct p.T287S SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Intron|SLC6A15_ENST00000552192.1_Intron NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 0 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TAGAATGAAGTGTTATGTGTG 0.328000 11 40 0 0 0.000422831 0 0 NLRC4 58484 broad.mit.edu 37 2 32475575 32475575 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:32475575C>T ENST00000404025.2 - 5 1846 c.1358G>A c.(1357-1359)cGa>cAa p.R453Q NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.R453Q|NLRC4_ENST00000402280.1_Missense_Mutation_p.R453Q Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 453 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity p.R453Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTGAGTCTTCGTCCTGCTGT 0.448000 22 56 0 0 0.00127121 0 0 UCK1 83549 broad.mit.edu 37 9 134404515 134404515 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:134404515C>T ENST00000372215.4 - 4 601 c.508_splice c.e4+1 p.V170_splice UCK1_ENST00000372211.3_Splice_Site_p.V175_splice|UCK1_ENST00000372208.3_Splice_Site_p.D170_splice|UCK1_ENST00000372210.3_Splice_Site_p.V161_splice|UCK1_ENST00000459858.1_5'UTR NM_001261450.1|NM_001261451.1|NM_031432.2 NP_001248379.1|NP_001248380.1|NP_113620.1 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 170 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GCCGCCTTACCTCTTCGAGAC 0.657000 18 19 0 0 0.00188189 0 0 GP1BA 2811 broad.mit.edu 37 17 4836164 4836164 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:4836164G>A ENST00000329125.5 + 2 340 c.265G>A c.(265-267)Gat>Aat p.D89N NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 89 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 GCTCCAGGTCGATGGGACGCT 0.587000 29 17 0 0 0.00178596 0 0 POLQ 10721 broad.mit.edu 37 3 121251894 121251894 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121251894G>A ENST00000264233.5 - 6 1031 c.903C>T c.(901-903)tcC>tcT p.S301S POLQ_ENST00000488282.1_5'UTR NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 301 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) AGTCATATATGGAATTTCCAA 0.393000 DNA polymerases (catalytic subunits) 19 46 0 0 0.00121646 0 0 FLNA 2316 broad.mit.edu 37 X 153583356 153583356 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:153583356G>A ENST00000422373.1 - 30 5278 c.5030C>T c.(5029-5031)aCg>aTg p.T1677M FLNA_ENST00000360319.4_Missense_Mutation_p.T1677M|FLNA_ENST00000369850.3_Missense_Mutation_p.T1685M|FLNA_ENST00000369856.3_De_novo_Start_InFrame|FLNA_ENST00000344736.4_Missense_Mutation_p.T1677M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1685 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) CACGGTGCACGTCACTTTGCC 0.622000 OREG0003595 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 14 0 0 0.00229938 0 0 STK31 56164 broad.mit.edu 37 7 23825120 23825120 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:23825120G>A ENST00000354639.3 + 18 2567 c.2103G>A c.(2101-2103)atG>atA p.M701I STK31_ENST00000433467.2_Missense_Mutation_p.M724I|STK31_ENST00000428484.1_Missense_Mutation_p.M701I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.M724I NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 724 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.M724I(1) 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 TCCTTACAATGAGCTTGGAAC 0.393000 34 64 0 0 0.00058488 0 0 PSG3 5671 broad.mit.edu 37 19 43233405 43233405 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43233405C>T ENST00000327495.5 - 5 1297 c.1113G>A c.(1111-1113)aaG>aaA p.K371K PSG3_ENST00000595140.1_Silent_p.K371K NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 371 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) ATAGCTGAAACTTCCCATTAA 0.453000 53 163 0 0 0.000781405 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975989 76975989 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:76975989G>A ENST00000409911.1 - 3 1831 c.1608C>T c.(1606-1608)atC>atT p.I536I LRRTM4_ENST00000409093.1_Silent_p.I535I|LRRTM4_ENST00000409884.1_Silent_p.I535I NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 535 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GGCAGTACCCGATCACAGGCT 0.537000 16 32 0 0 0.000422831 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966907 41966907 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:41966907A>T ENST00000298919.7 + 10 1934 c.1546A>T c.(1546-1548)Atg>Ttg p.M516L PDZRN4_ENST00000402685.2_Missense_Mutation_p.M776L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.M518L Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 776 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GAGAAGCACAATGGCAGCCAC 0.517000 35 88 0 0 0.000953801 0 0 MYH8 4626 broad.mit.edu 37 17 10295881 10295881 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10295881C>T ENST00000403437.2 - 38 5640 c.5546G>A c.(5545-5547)cGa>cAa p.R1849Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1849 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTCTTTTACTCGTCGCTCATG 0.403000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 43 66 0 0 0.000781405 0 0 MCC 4163 broad.mit.edu 37 5 112384869 112384869 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:112384869G>A ENST00000302475.4 - 14 2569 c.2006C>T c.(2005-2007)tCc>tTc p.S669F MCC_ENST00000515367.2_Missense_Mutation_p.S606F|MCC_ENST00000408903.3_Missense_Mutation_p.S859F|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 669 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) CTCCACCTCGGACTTCAGGTG 0.617000 15 35 0 0 0.000308642 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417004 89417004 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:89417004C>T ENST00000490686.1 - 0 206 TCCCTGGTTTCTGCTGATACC 0.527000 57 103 0 0 0.000781405 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402383 47402383 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:47402383G>A ENST00000310638.4 - 4 494 c.463C>T c.(463-465)Ctg>Ttg p.L155L CYP4A11_ENST00000457840.2_Silent_p.L51L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Silent_p.L155L|CYP4A11_ENST00000371905.1_Silent_p.L155L NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 155 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) TAGGGCTTCAGGATGTCATAG 0.547000 29 44 0 0 0.00178596 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425870 71425870 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:71425870T>C ENST00000373657.1 - 3 2980 c.2378A>G c.(2377-2379)gAa>gGa p.E793G PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.E916G Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 916 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ATCAGCTATTTCAATAATGGA 0.403000 20 9 0 0 0.000586117 0 0 ABCC10 89845 broad.mit.edu 37 6 43412653 43412653 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:43412653C>T ENST00000244533.3 + 11 3092 c.2733C>T c.(2731-2733)ctC>ctT p.L911L ABCC10_ENST00000372530.4_Silent_p.L939L NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 939 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CGCAGCTGCTCCTCTTTTCCC 0.617000 24 60 0 0 0.000878237 0 0 OR4C12 283093 broad.mit.edu 37 11 50003394 50003394 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:50003394G>A ENST00000335238.4 - 1 677 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 GATCACATAGGATACCACCAA 0.388000 14 40 0 0 0.000566183 0 0 ECE2 9718 broad.mit.edu 37 3 184008848 184008848 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:184008848G>A ENST00000402825.3 + 17 2209 c.2209G>A c.(2209-2211)Ggg>Agg p.G737R EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.G590R|ECE2_ENST00000357474.5_Missense_Mutation_p.G665R|ECE2_ENST00000404464.3_Missense_Mutation_p.G619R NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 737 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGACAAAGAAGGGAACCTGCG 0.597000 13 54 0 0 0.00244969 0 0 TTN 7273 broad.mit.edu 37 2 179604434 179604434 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179604434G>A ENST00000589042.1 - 48 13750 c.13526C>T c.(13525-13527)tCt>tTt p.S4509F TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S4192F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.S4271F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S4146F|TTN_ENST00000342175.6_Missense_Mutation_p.S4338F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4192 Ig-like 25. 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) ACCTGAAAAAGAATCCATTTC 0.378000 67 146 0 0 0.000781405 0 0 SLC17A4 10050 broad.mit.edu 37 6 25773766 25773766 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:25773766C>T ENST00000377905.4 + 8 970 c.851C>T c.(850-852)cCc>cTc p.P284L SLC17A4_ENST00000397076.2_Missense_Mutation_p.P54L|SLC17A4_ENST00000439485.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 284 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGTCTCTTCCCATTAGGGCT 0.458000 21 59 0 0 0.00152264 0 0 TET3 200424 broad.mit.edu 37 2 74273784 74273784 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:74273784C>T ENST00000409262.3 + 1 335 c.335C>T c.(334-336)tCt>tTt p.S112F NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 112 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAGGGCTGCTCTGCTGGCAGC 0.632000 18 34 0 0 0.000958276 0 0 RSAD1 55316 broad.mit.edu 37 17 48559766 48559766 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48559766C>T ENST00000258955.2 + 4 874 c.789C>T c.(787-789)gtC>gtT p.V263V NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 263 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCCGGGCTGTCCTTCGGGAGG 0.647000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 49 0 0 0.000978159 0 0 LAMC2 3918 broad.mit.edu 37 1 183155554 183155554 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:183155554T>A ENST00000264144.4 + 1 132 c.67T>A c.(67-69)Tcc>Acc p.S23T LAMC2_ENST00000493293.1_Missense_Mutation_p.S23T NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 23 cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CCGGGCCACCTCCAGGAGGGA 0.652000 9 15 0 0 0.000442599 0 0 AK5 26289 broad.mit.edu 37 1 77987620 77987620 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:77987620G>A ENST00000344720.5 + 12 2368 c.1342G>A c.(1342-1344)Gga>Aga p.G448R AK5_ENST00000354567.2_Missense_Mutation_p.G474R NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 474 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GGAAGAGTTCGGACGCAGGGT 0.527000 16 38 0 0 0.000958276 0 0 OR5H2 79310 broad.mit.edu 37 3 98002051 98002051 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:98002051T>A ENST00000355273.2 + 1 320 c.320T>A c.(319-321)tTt>tAt p.F107Y RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 ATTCAATTTTTTTCCTTTGCA 0.368000 44 79 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82581416 82581416 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:82581416C>T ENST00000423517.2 - 5 9190 c.8853G>A c.(8851-8853)agG>agA p.R2951R PCLO_ENST00000333891.8_Silent_p.R2951R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2882 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 CTGTGCAGCTCCTTCCAAATG 0.433000 42 78 0 0 0.00148497 0 0 SEPP1 6414 broad.mit.edu 37 5 42801088 42801088 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:42801088C>T ENST00000514985.1 - 5 1136 c.880G>A c.(880-882)Gag>Aag p.E294K CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.E294K|SEPP1_ENST00000506577.1_Missense_Mutation_p.E294K NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 294 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 GGAGCCAACTCTGAATCTGTG 0.403000 26 57 0 0 0.00058488 0 0 USP5 8078 broad.mit.edu 37 12 6972504 6972504 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6972504A>T ENST00000229268.8 + 15 1969 c.1917A>T c.(1915-1917)gaA>gaT p.E639D USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 639 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 ACGAAGACGAAGACTCCTTCT 0.587000 27 60 0 0 0.00106085 0 0 AMBP 259 broad.mit.edu 37 9 116823280 116823280 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:116823280C>T ENST00000265132.3 - 9 1214 c.952G>A c.(952-954)Ggg>Agg p.G318R NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 318 BPTI/Kunitz inhibitor 2. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity p.G318W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) TGGCAGCCCCCGTAGGGGAAG 0.622000 28 38 0 0 0.000720815 0 0 MAP3K19 80122 broad.mit.edu 37 2 135741363 135741363 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:135741363C>T ENST00000375845.3 - 8 3135 c.3105G>A c.(3103-3105)agG>agA p.R1035R MAP3K19_ENST00000375844.3_Silent_p.R217R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Silent_p.R922R|MAP3K19_ENST00000392918.3_Silent_p.R217R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.R1052R NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 ATTTCTCCTCCCTGTCATATA 0.398000 21 51 0 0 0.00047179 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112076 64112076 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64112076G>A ENST00000356786.5 + 14 2107 c.2063G>A c.(2062-2064)gGg>gAg p.G688E CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 688 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGGCTGGAAGGGACGGTCAGG 0.647000 4 2 0 0 0.000602214 0 0 TNXB 7148 broad.mit.edu 37 6 32017215 32017215 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32017215T>A ENST00000375244.3 - 28 9790 c.9589A>T c.(9589-9591)Acc>Tcc p.T3197S TNXB_ENST00000375247.2_Missense_Mutation_p.T3195S P22105 TENX_HUMAN tenascin XB 3242 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 TACTGCACGGTGAAGGAGTCG 0.682000 95 326 0 0 0.000781405 0 0 LMO3 55885 broad.mit.edu 37 12 16713469 16713469 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:16713469G>A ENST00000320122.6 - 3 732 c.210C>T c.(208-210)ctC>ctT p.L70L LMO3_ENST00000540848.1_Silent_p.L70L|LMO3_ENST00000540445.1_Silent_p.L92L|LMO3_ENST00000261169.6_Silent_p.L81L|LMO3_ENST00000534946.1_Silent_p.L70L|LMO3_ENST00000541295.1_Silent_p.L88L|LMO3_ENST00000354662.1_Silent_p.L70L|LMO3_ENST00000541846.1_Silent_p.L70L|LMO3_ENST00000537304.1_Silent_p.L70L|LMO3_ENST00000447609.1_Silent_p.L70L|LMO3_ENST00000535535.1_Silent_p.L70L|LMO3_ENST00000441439.2_Silent_p.L70L NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 70 LIM zinc-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) TTACACCAAAGAGCCTAGAAT 0.403000 20 28 0 0 0.00121646 0 0 HCN3 57657 broad.mit.edu 37 1 155252281 155252281 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:155252281G>A ENST00000368358.3 + 2 366 c.358G>A c.(358-360)Gag>Aag p.E120K HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 120 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTTCTTCAAGGAGGAGAACTC 0.532000 16 45 0 0 0.00074312 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169550874 169550874 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:169550874C>T ENST00000340806.6 + 4 1433 c.1433C>T c.(1432-1434)cCc>cTc p.P478L NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 478 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ATGGACAATCCCATGGAAGAA 0.433000 18 35 0 0 0.00074312 0 0 SNRNP200 23020 broad.mit.edu 37 2 96956468 96956468 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:96956468G>A ENST00000323853.5 - 19 2584 c.2507C>T c.(2506-2508)cCa>cTa p.P836L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 836 Helicase C-terminal 1. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CCCCTTCTCTGGACTGTACAC 0.488000 36 68 0 0 0.00111076 0 0 GRM4 2914 broad.mit.edu 37 6 34101135 34101135 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:34101135C>T ENST00000374181.3 - 1 308 c.139G>A c.(139-141)Ggg>Agg p.G47R GRM4_ENST00000538487.1_Missense_Mutation_p.G47R|GRM4_ENST00000374177.3_Intron NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 47 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GTGATGTCCCCATCTATGCGG 0.607000 11 36 0 0 0.00136819 0 0 ISLR 3671 broad.mit.edu 37 15 74467805 74467805 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:74467805C>T ENST00000249842.3 + 2 963 c.606C>T c.(604-606)atC>atT p.I202I ISLR_ENST00000395118.1_Silent_p.I202I|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 202 LRRCT. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 CCGTGTCCATCCCGGAGCAGG 0.662000 21 9 0 0 0.00278032 0 0 METTL24 728464 broad.mit.edu 37 6 110620142 110620142 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:110620142C>T ENST00000338882.4 - 4 768 c.769G>A c.(769-771)Gaa>Aaa p.E257K NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 257 extracellular region TGTCCAAATTCATTCAAAATG 0.398000 14 32 0 0 0.00185496 0 0 ZNF567 163081 broad.mit.edu 37 19 37210633 37210633 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:37210633C>T ENST00000585696.1 + 3 2144 c.914C>T c.(913-915)tCg>tTg p.S305L ZNF567_ENST00000392163.2_Missense_Mutation_p.S305L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.S305L|ZNF567_ENST00000536254.2_Missense_Mutation_p.S336L|ZNF567_ENST00000360729.4_Missense_Mutation_p.S305L Q8N184 ZN567_HUMAN zinc finger protein 567 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S305L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGGGAGAAATCGTATGAATGT 0.458000 10 28 0 0 0.000673444 0 0 KCNN1 3780 broad.mit.edu 37 19 18092692 18092692 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:18092692G>A ENST00000601725.1 + 0 308 GGCCGAGGCCGACGTGGACGT 0.672000 7 12 0 0 0.000157383 0 0 TRIM31 11074 broad.mit.edu 37 6 30076814 30076814 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30076814G>A ENST00000376734.3 - 5 881 c.756C>T c.(754-756)gtC>gtT p.V252V TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.V252V NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 252 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TGCACAAGACGACTTTGATAT 0.488000 15 75 0 0 0.00074312 0 0 RC3H2 54542 broad.mit.edu 37 9 125622240 125622240 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125622240G>A ENST00000373670.1 - 10 2405 c.1805C>T c.(1804-1806)cCa>cTa p.P602L RC3H2_ENST00000423239.2_Missense_Mutation_p.P602L|RC3H2_ENST00000357244.2_Missense_Mutation_p.P602L Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 602 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CTGAGTCCTTGGATCTTGAAA 0.378000 150 168 0 0 0.000781405 0 0 PCSK5 5125 broad.mit.edu 37 9 78711007 78711007 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:78711007G>A ENST00000545128.1 + 8 1634 c.1096G>A c.(1096-1098)Gat>Aat p.D366N PCSK5_ENST00000376752.4_Missense_Mutation_p.D366N|PCSK5_ENST00000376767.3_Missense_Mutation_p.D366N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 366 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGAGTCCTACGATAAGAAAAT 0.428000 19 18 0 0 0.00188189 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453303 21453303 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21453303C>T ENST00000307378.6 - 9 1609 c.889G>A c.(889-891)Gaa>Aaa p.E297K SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E295K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E297K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 297 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CCATATTTTTCCTTCTTGACC 0.294000 7 37 0 0 0.00198382 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500389 90500389 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:90500389G>A ENST00000325643.5 + 4 1053 c.987G>A c.(985-987)cgG>cgA p.R329R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCCAGCCACGGCATCTTCCCG 0.612000 9 32 0 0 0.000274275 0 0 BAGE2 85319 broad.mit.edu 37 21 11058362 11058362 + RNA SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:11058362T>C ENST00000470054.1 - 0 324 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) TTATAAAACCTTGAAAAGGAA 0.348000 8 69 0 0 0.000157383 0 0 PCSK5 5125 broad.mit.edu 37 9 78808202 78808202 + Missense_Mutation SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:78808202G>C ENST00000376752.4 + 21 3153 c.2676G>C c.(2674-2676)aaG>aaC p.K892N PCSK5_ENST00000545128.1_Intron NM_006200.3 NP_006191.2 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 892 PLAC. 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 TTGTGAAAAAGAACAATCTGT 0.458000 14 41 0 0 0.000308642 0 0 NRG1 3084 broad.mit.edu 37 8 32621496 32621496 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:32621496C>T ENST00000338921.4 + 13 2040 c.1523C>T c.(1522-1524)tCc>tTc p.S508F NRG1_ENST00000287840.5_Missense_Mutation_p.S500F|NRG1_ENST00000287845.5_Missense_Mutation_p.S471F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.S505F|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.S497F|NRG1_ENST00000405005.2_Missense_Mutation_p.S500F|NRG1_ENST00000539990.1_Missense_Mutation_p.S343F|NRG1_ENST00000519301.1_Missense_Mutation_p.S450F Q02297 NRG1_HUMAN neuregulin 1 500 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CAGTTCAGCTCCTTCCACCAC 0.557000 18 24 0 0 0.00074312 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588761 140588761 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140588761G>A ENST00000239450.2 + 1 471 c.282G>A c.(280-282)gaG>gaA p.E94E PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 94 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.E94D(1) 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) ACAGGGAGGAGCTCTGTGGCT 0.478000 22 49 0 0 0.00152264 0 0 PLXNA3 55558 broad.mit.edu 37 X 153698863 153698863 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:153698863G>A ENST00000369682.3 + 30 5240 c.5065G>A c.(5065-5067)Gcc>Acc p.A1689T PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1689 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) CCTGCCCCTGGCCATCAAGTA 0.612000 30 19 0 0 0.00178596 0 0 MUSK 4593 broad.mit.edu 37 9 113563252 113563252 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:113563252G>A ENST00000416899.2 + 13 2696 c.2570G>A c.(2569-2571)gGa>gAa p.G857E MUSK_ENST00000374448.4_Missense_Mutation_p.G865E|MUSK_ENST00000189978.5_Missense_Mutation_p.G865E O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 865 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AGGGCAGAGGGAACTGTGAGT 0.493000 9 24 0 0 0.000673444 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420485 55420485 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55420485C>T ENST00000242994.3 + 2 640 c.262C>T c.(262-264)Cga>Tga p.R88* NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 88 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R88*(2) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 ATTCAGGGCTCGAAGAGTCAA 0.507000 12 37 0 0 0.00136819 0 0 ITPR2 3709 broad.mit.edu 37 12 26639045 26639045 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:26639045C>T ENST00000381340.3 - 41 6219 c.5803G>A c.(5803-5805)Gaa>Aaa p.E1935K NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1935 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) ACCTGCAATTCCCGGTTGTGA 0.388000 28 49 0 0 0.00283554 0 0 SULF1 23213 broad.mit.edu 37 8 70533414 70533414 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:70533414G>A ENST00000260128.4 + 14 2239 c.1522G>A c.(1522-1524)Gag>Aag p.E508K SULF1_ENST00000458141.2_Missense_Mutation_p.E508K|SULF1_ENST00000419716.3_Missense_Mutation_p.E508K|SULF1_ENST00000402687.4_Missense_Mutation_p.E508K|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 508 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) CAGTTGTAGGGAGTCTGGTTA 0.527000 20 45 0 0 0.00229938 0 0 NFASC 23114 broad.mit.edu 37 1 204923330 204923330 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:204923330G>A ENST00000367172.4 + 6 558 c.230G>A c.(229-231)cGa>cAa p.R77Q NFASC_ENST00000360049.4_Missense_Mutation_p.R71Q|NFASC_ENST00000338586.6_Missense_Mutation_p.R77Q|NFASC_ENST00000401399.1_Missense_Mutation_p.R77Q|NFASC_ENST00000404907.1_Missense_Mutation_p.R71Q|NFASC_ENST00000338515.6_Missense_Mutation_p.R77Q|NFASC_ENST00000367171.4_Missense_Mutation_p.R77Q|NFASC_ENST00000513543.1_Missense_Mutation_p.R71Q|NFASC_ENST00000403080.1_Missense_Mutation_p.R77Q|NFASC_ENST00000367170.4_Missense_Mutation_p.R77Q|NFASC_ENST00000404076.1_Missense_Mutation_p.R71Q|NFASC_ENST00000339876.6_Missense_Mutation_p.R77Q|NFASC_ENST00000367169.4_Missense_Mutation_p.R77Q|NFASC_ENST00000539706.1_Missense_Mutation_p.R71Q O94856 NFASC_HUMAN neurofascin 77 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACTGGACACGAAACAGCAGA 0.617000 7 28 0 0 0.000274275 0 0 MYT1L 23040 broad.mit.edu 37 2 1893142 1893142 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:1893142G>A ENST00000399161.2 - 16 3138 c.2391C>T c.(2389-2391)tcC>tcT p.S797S MYT1L_ENST00000428368.2_Silent_p.S795S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 797 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTGCTGGGGGGACATGGGCT 0.617000 17 27 0 0 0.00074312 0 0 SETX 23064 broad.mit.edu 37 9 135139746 135139746 + Silent SNP G G A rs80296256 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:135139746G>A ENST00000372169.2 - 27 8183 c.8001C>T c.(7999-8001)ttC>ttT p.F2667F SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Silent_p.F2605F|SETX_ENST00000224140.5_Silent_p.F2638F Q7Z333 SETX_HUMAN senataxin 2638 Necessary for nuclear localization. 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) CCCCTTCACTGAAAGCCCTGG 0.592000 150 194 0 0 0.000781405 0 0 ZNF169 169841 broad.mit.edu 37 9 97062706 97062706 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:97062706C>T ENST00000395395.2 + 5 956 c.866C>T c.(865-867)cCg>cTg p.P289L ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 289 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GGGGAGAAGCCGTATGTGTGC 0.562000 28 50 0 0 0.00106085 0 0 MXRA5 25878 broad.mit.edu 37 X 3241590 3241590 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:3241590C>T ENST00000217939.6 - 5 2290 c.2136G>A c.(2134-2136)agG>agA p.R712R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 712 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) GCAGAAGTCTCCTTGAAGTGT 0.502000 27 13 0 0 0.00106085 0 0 SLC6A13 6540 broad.mit.edu 37 12 369044 369044 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:369044G>A ENST00000343164.4 - 2 227 c.175C>T c.(175-177)Ccc>Tcc p.P59S SLC6A13_ENST00000436453.1_Missense_Mutation_p.P59S|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P59S NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 59 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) CAGAGATAGGGAAACCTCCAG 0.562000 42 96 0 0 0.000781405 0 0 DMXL2 23312 broad.mit.edu 37 15 51829950 51829950 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:51829950G>A ENST00000251076.5 - 11 1639 c.1352C>T c.(1351-1353)tCc>tTc p.S451F DMXL2_ENST00000449909.3_Missense_Mutation_p.S451F|DMXL2_ENST00000543779.2_Missense_Mutation_p.S451F NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 451 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) TCTATCCAGGGATAAATCTGA 0.323000 7 14 0 0 0.00198382 0 0 MYH1 4619 broad.mit.edu 37 17 10411972 10411972 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10411972G>A ENST00000226207.5 - 16 1699 c.1605C>T c.(1603-1605)tcC>tcT p.S535S CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 535 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCCAGGATGGAGAAGATGC 0.393000 24 34 0 0 0.00127121 0 0 APOBR 55911 broad.mit.edu 37 16 28507365 28507365 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28507365G>A ENST00000564831.1 + 2 1036 c.1003G>A c.(1003-1005)Gag>Aag p.E335K APOBR_ENST00000328423.5_Missense_Mutation_p.E335K|APOBR_ENST00000431282.1_Missense_Mutation_p.E335K NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 335 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CTCGGGAGGGGAGGAGGCCGG 0.716000 5 12 0 0 0.00116845 0 0 OR8K5 219453 broad.mit.edu 37 11 55927378 55927378 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55927378C>T ENST00000313447.1 - 1 415 c.416G>A c.(415-417)cGa>cAa p.R139Q NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 139 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATGACACAGTCGCTGAGACAT 0.403000 39 39 0 0 0.00170553 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227561 56227561 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:56227561G>A ENST00000341744.3 - 4 731 c.412C>T c.(412-414)Ccg>Tcg p.P138S PMEPA1_ENST00000347215.4_Missense_Mutation_p.P103S|PMEPA1_ENST00000395814.1_Missense_Mutation_p.P88S|PMEPA1_ENST00000395816.3_Missense_Mutation_p.P88S|PMEPA1_ENST00000265626.4_Missense_Mutation_p.P88S NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 138 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 TGCAGGTACGGATAGGTGGGC 0.716000 10 7 0 0 0.000978159 0 0 SCRIB 23513 broad.mit.edu 37 8 144874934 144874934 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144874934G>A ENST00000356994.2 - 30 4127 c.4121C>T c.(4120-4122)cCt>cTt p.P1374L SCRIB_ENST00000377533.3_Missense_Mutation_p.P1293L|SCRIB_ENST00000320476.3_Missense_Mutation_p.P1374L|SCRIB_ENST00000546337.1_5'UTR NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1374 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACGCGCTTAGGGGGGCCCTC 0.697000 7 10 0 0 0.00198382 0 0 FLT4 2324 broad.mit.edu 37 5 180057250 180057250 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:180057250G>A ENST00000261937.6 - 4 566 c.488C>T c.(487-489)cCc>cTc p.P163L FLT4_ENST00000502649.1_Missense_Mutation_p.P163L|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.P163L NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 163 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ATTGAGGCCGGGGATGGACAC 0.632000 13 16 0 0 0.00244969 0 0 ADAM7 8756 broad.mit.edu 37 8 24339764 24339764 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:24339764C>T ENST00000175238.6 + 9 898 c.815C>T c.(814-816)tCa>tTa p.S272L RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.S44L|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.S272L NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 272 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding 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) TTGCGTTTTTCATTTTGGCAA 0.338000 28 72 0 0 0.000720815 0 0 RAD23A 5886 broad.mit.edu 37 19 13058990 13058990 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:13058990G>A ENST00000586534.1 + 3 295 c.e3-1 RAD23A_ENST00000541222.1_Splice_Site|RAD23A_ENST00000588826.2_Splice_Site|RAD23A_ENST00000592268.1_Splice_Site|RAD23A_ENST00000316856.3_Splice_Site P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 TGCTGTTGCAGACCAAAGCCG 0.622000 Nucleotide excision repair (NER) 13 28 0 0 0.00244969 0 0 GARNL3 84253 broad.mit.edu 37 9 130098439 130098439 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:130098439C>T ENST00000373387.4 + 11 1258 c.906C>T c.(904-906)atC>atT p.I302I GARNL3_ENST00000435213.2_Silent_p.I280I|GARNL3_ENST00000314904.5_Silent_p.I302I NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 302 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity p.I284I(1) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 GAAACGATATCGTCACCATTG 0.433000 36 39 0 0 0.00195071 0 0 HAO2 51179 broad.mit.edu 37 1 119927482 119927482 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:119927482G>A ENST00000361035.4 + 5 689 c.406G>A c.(406-408)Ggc>Agc p.G136S HAO2_ENST00000325945.3_Missense_Mutation_p.G123S NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 123 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AGCTCCCGAAGGCCTCCGATG 0.493000 26 104 0 0 0.00047179 0 0 GPR98 84059 broad.mit.edu 37 5 89930994 89930994 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:89930994G>A ENST00000405460.2 + 10 1999 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 635 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) TAGATTTGGGGAAATCTGCAA 0.348000 23 63 0 0 0.00188189 0 0 IL4 3565 broad.mit.edu 37 5 132018273 132018273 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:132018273G>A ENST00000231449.2 + 4 521 c.456G>A c.(454-456)tcG>tcA p.S152S IL4_ENST00000350025.2_Silent_p.S136S NM_000589.3 NP_000580.1 P05112 IL4_HUMAN interleukin 4 152 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding NS(1)|large_intestine(3)|lung(3)|prostate(1) 8 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CAAAGTGTTCGAGCTGAATAT 0.299000 11 40 0 0 0.000673444 0 0 WDR52 55779 broad.mit.edu 37 3 113120439 113120439 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:113120439A>G ENST00000393845.2 - 10 1384 c.1318T>C c.(1318-1320)Ttg>Ctg p.L440L WDR52_ENST00000295868.2_Silent_p.L440L NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 440 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 ACCTGAGCCAACCAAAAGTTA 0.343000 17 34 0 0 0.00074312 0 0 MARCH3 115123 broad.mit.edu 37 5 126206432 126206432 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:126206432G>A ENST00000308660.5 - 5 1169 c.655C>T c.(655-657)Cag>Tag p.Q219* NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 219 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) ATCACCCTCTGATTGGTCCGA 0.488000 20 28 0 0 0.00278032 0 0 PCDH15 65217 broad.mit.edu 37 10 55582522 55582522 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:55582522G>A ENST00000361849.3 - 34 5364 c.4970C>T c.(4969-4971)tCt>tTt p.S1657F PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1655F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1632F|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1652F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1586F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1615F|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1655 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) TGAAGAGAGAGATTTCAACTG 0.403000 HNSCC(58;0.16) 27 28 0 0 0.000878237 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481727 27481727 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:27481727C>T ENST00000233535.4 - 2 523 c.171G>A c.(169-171)agG>agA p.R57R SLC30A3_ENST00000447008.2_Silent_p.R52R NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 57 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGGGGGTCCCTGTGGCAGT 0.612000 9 31 0 0 0.000673444 0 0 GABRR2 2570 broad.mit.edu 37 6 89967511 89967511 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:89967511G>A ENST00000402938.3 - 9 1409 c.1276C>T c.(1276-1278)Ctg>Ttg p.L426L GABRR2_ENST00000602399.1_Silent_p.L451L P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 451 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGGCCCTTCAGAAGCCCCTTC 0.473000 16 26 0 0 0.000566183 0 0 SEPN1 57190 broad.mit.edu 37 1 26138011 26138011 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:26138011C>T ENST00000361547.2 + 8 1132 c.1077C>T c.(1075-1077)atC>atT p.I359I SEPN1_ENST00000354177.4_Silent_p.I325I|SEPN1_ENST00000374315.1_Silent_p.I325I NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 359 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) AGGTGGACATCGGCTACATAC 0.607000 OREG0013258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 168 0 0 0.000781405 0 0 RYR1 6261 broad.mit.edu 37 19 38939053 38939053 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:38939053G>T ENST00000355481.4 + 10 990 c.859G>T c.(859-861)Ggg>Tgg p.G287W RYR1_ENST00000360985.3_Missense_Mutation_p.G287W|RYR1_ENST00000359596.3_Missense_Mutation_p.G287W NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 287 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) TGTCACTACCGGGCAGTACCT 0.652000 5 91 0.00116845 0.0045107 0.00116845 1 0 CRYGN 155051 broad.mit.edu 37 7 151127230 151127230 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:151127230G>A ENST00000337323.2 - 4 579 c.453C>T c.(451-453)ttC>ttT p.F151F CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 151 central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTCAGCTGGAAGTCCTCAG 0.562000 30 40 0 0 0.001512 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988779 64988779 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:64988779C>T ENST00000358738.3 + 2 948 c.557C>T c.(556-558)cCt>cTt p.P186L ZBTB1_ENST00000554015.1_Missense_Mutation_p.P186L|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P186L 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) GGTAATTTTCCTGAGCCACTA 0.413000 17 25 0 0 0.00074312 0 0 TCOF1 6949 broad.mit.edu 37 5 149754238 149754238 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:149754238C>T ENST00000451292.1 + 9 1250 c.1142C>T c.(1141-1143)tCc>tTc p.S381F TCOF1_ENST00000504761.2_Missense_Mutation_p.S381F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S304F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S304F|TCOF1_ENST00000394269.3_Missense_Mutation_p.S381F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S381F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S381F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S381F Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 381 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) GCCAAGGAGTCCCCCAGGAAA 0.657000 11 38 0 0 0.000978159 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406562 33406562 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33406562C>T ENST00000418600.2 + 10 1643 c.1542C>T c.(1540-1542)atC>atT p.I514I SYNGAP1_ENST00000293748.5_Silent_p.I514I|SYNGAP1_ENST00000428982.2_Silent_p.I455I|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 514 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GAGAATTCATCCGTGCTCTGT 0.557000 34 134 0 0 0.000953801 0 0 C6 729 broad.mit.edu 37 5 41176764 41176764 + Silent SNP C C T rs146851023 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41176764C>T ENST00000263413.3 - 8 1245 c.981G>A c.(979-981)acG>acA p.T327T C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T327T NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 327 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.T327T(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTTTAGCTTTCGTTGTGAAGT 0.338000 17 29 0 0 0.000958276 0 0 ARID2 196528 broad.mit.edu 37 12 46230641 46230641 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:46230641C>T ENST00000334344.6 + 8 1062 c.890C>T c.(889-891)tCc>tTc p.S297F ARID2_ENST00000422737.1_Missense_Mutation_p.S148F|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 297 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAAATCTTTCCTTTGAGGAG 0.398000 """N, S, F""" hepatocellular carcinoma 28 68 0 0 0.001512 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216060 20216060 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:20216060C>T ENST00000331723.1 + 1 474 c.474C>T c.(472-474)atC>atT p.I158I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 158 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) TCCACTCTATCATGCAGGTCA 0.507000 9 13 0 0 0.000442599 0 0 KCNQ4 9132 broad.mit.edu 37 1 41298783 41298783 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:41298783C>T ENST00000347132.5 + 11 1693 c.1611C>T c.(1609-1611)atC>atT p.I537I KCNQ4_ENST00000509682.2_Silent_p.I483I|KCNQ4_ENST00000506017.1_3'UTR NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 537 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCCGCTCCATCAGGTAAGACT 0.597000 5 21 0 0 0.000602214 0 0 RSPH3 83861 broad.mit.edu 37 6 159420880 159420880 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:159420880C>T ENST00000252655.1 - 1 318 c.129G>A c.(127-129)ggG>ggA p.G43G RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000297262.3_Silent_p.G43G NM_031924.4 NP_114130.3 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 43 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCCCAGGTTTCCCGGGAAGGA 0.687000 6 20 0 0 0.00198382 0 0 SLC26A8 116369 broad.mit.edu 37 6 35959503 35959503 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:35959503C>T ENST00000490799.1 - 7 1228 c.875G>A c.(874-876)cGa>cAa p.R292Q SLC26A8_ENST00000394602.2_Intron|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R292Q NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 292 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 TTTGTTGATTCGCAGAGCAAC 0.333000 25 29 0 0 0.00047179 0 0 HAUS1 115106 broad.mit.edu 37 18 43698189 43698189 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:43698189C>T ENST00000282058.6 + 3 328 c.248C>T c.(247-249)tCc>tTc p.S83F HAUS1_ENST00000585518.1_Intron|HAUS1_ENST00000588704.1_3'UTR NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 83 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 GTGAATTTTTCCCCCGCCAAT 0.418000 27 64 0 0 0.00127121 0 0 MPP2 4355 broad.mit.edu 37 17 41975675 41975675 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:41975675G>A ENST00000269095.4 - 3 409 c.105C>T c.(103-105)ttC>ttT p.F35F MPP2_ENST00000523501.1_Silent_p.F24F|MPP2_ENST00000377184.3_Silent_p.F52F|MPP2_ENST00000518766.1_Silent_p.F80F|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.F24F|MPP2_ENST00000461854.1_Silent_p.F35F NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 35 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) TGCCTCGAAGGAAGATCAGGT 0.587000 29 42 0 0 0.0024448 0 0 LILRB4 11006 broad.mit.edu 37 19 55175926 55175926 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55175926C>T ENST00000391736.1 + 6 960 c.645C>T c.(643-645)ctC>ctT p.L215L LILRB4_ENST00000270452.2_Silent_p.L215L|LILRB4_ENST00000391733.3_Silent_p.L215L|LILRB4_ENST00000430952.2_Silent_p.L215L|LILRB4_ENST00000391734.3_Silent_p.L215L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 215 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCCTGGAGCTCATAGTCTCAG 0.622000 10 33 0 0 0.000673444 0 0 AMER3 205147 broad.mit.edu 37 2 131520966 131520966 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:131520966G>A ENST00000423981.1 + 2 1431 c.1321G>A c.(1321-1323)Gac>Aac p.D441N AMER3_ENST00000321420.4_Missense_Mutation_p.D441N 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 CCCAGATGATGACCTGTGCGT 0.662000 15 37 0 0 0.00074312 0 0 GRIK3 2899 broad.mit.edu 37 1 37307391 37307391 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:37307391C>T ENST00000373091.3 - 10 1492 c.1476G>A c.(1474-1476)ggG>ggA p.G492G GRIK3_ENST00000373093.4_Silent_p.G492G NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 492 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATCCTGTGCCCCGTACTTGC 0.597000 49 77 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179636071 179636071 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179636071C>T ENST00000589042.1 - 34 8207 c.7983G>A c.(7981-7983)ctG>ctA p.L2661L TTN_ENST00000591111.1_Silent_p.L2661L|TTN_ENST00000342992.6_Silent_p.L2661L|TTN_ENST00000359218.5_Silent_p.L2615L|TTN_ENST00000360870.5_Silent_p.L2661L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L2615L|TTN_ENST00000342175.6_Silent_p.L2615L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2397 Ig-like 15. 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) TGTTGTTAGTCAGTGGTAGGT 0.458000 20 43 0 0 0.00188189 0 0 COL7A1 1294 broad.mit.edu 37 3 48617237 48617237 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:48617237C>T ENST00000328333.8 - 57 5242 c.5135G>A c.(5134-5136)gGa>gAa p.G1712E COL7A1_ENST00000454817.1_Missense_Mutation_p.G1712E NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1712 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.G1712V(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGCTCCAGGTCCTGTGTCTAC 0.582000 20 27 0 0 0.00278032 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312110 102312110 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:102312110C>T ENST00000561463.1 + 0 13478 CAGTGAGAGCCTCCCCTGCCC 0.632000 39 36 0 0 0.000781405 0 0 NUAK2 81788 broad.mit.edu 37 1 205277745 205277745 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205277745G>A ENST00000367157.3 - 3 594 c.468C>T c.(466-468)ttC>ttT p.F156F NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 156 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CGATCTGCCGGAAGAAATGCC 0.572000 11 30 0 0 0.000673444 0 0 MICAL1 64780 broad.mit.edu 37 6 109767004 109767004 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:109767004T>A ENST00000368952.4 - 20 2990 c.2700A>T c.(2698-2700)gaA>gaT p.E900D MICAL1_ENST00000358807.3_Missense_Mutation_p.E881D|MICAL1_ENST00000358577.3_Missense_Mutation_p.E795D Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 881 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) AAGGCACATCTTCTTCTTCCT 0.537000 10 15 0 0 0.00244969 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137358 40137358 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:40137358C>T ENST00000278198.2 - 2 2448 c.485G>A c.(484-486)aGc>aAc p.S162N LRRC4C_ENST00000528697.1_Missense_Mutation_p.S162N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.S162N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.S162N Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 162 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) AGAAGGGATGCTTTCAATGGG 0.423000 14 51 0 0 0.000566183 0 0 GLRB 2743 broad.mit.edu 37 4 158043524 158043524 + Missense_Mutation SNP T T G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:158043524T>G ENST00000264428.4 + 4 542 c.272T>G c.(271-273)tTt>tGt p.F91C GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.F91C|GLRB_ENST00000541722.1_Missense_Mutation_p.F91C NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 91 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) ATTAACAGTTTTGGATCCATT 0.254000 5 27 0 0 0.00116845 0 0 SLC22A9 114571 broad.mit.edu 37 11 63141131 63141131 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:63141131C>T ENST00000279178.3 + 3 771 c.522C>T c.(520-522)ttC>ttT p.F174F SLC22A9_ENST00000310969.4_Intron NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 174 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 GGAGAAGGTTCGTGCTCAGAT 0.458000 21 25 0 0 0.00229938 0 0 FRAS1 80144 broad.mit.edu 37 4 79369463 79369463 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:79369463C>T ENST00000264895.6 + 44 6707 c.6267C>T c.(6265-6267)ctC>ctT p.L2089L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2088 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 GCCTACAGCTCTCAGCAGGTA 0.463000 4 3 0 0 0.00024832 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355470 21355470 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21355470G>A ENST00000256958.2 + 10 1277 c.1181G>A c.(1180-1182)gGa>gAa p.G394E NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 394 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.G394E(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTTTTAGGAGGATATATCATT 0.289000 18 40 0 0 0.00074312 0 0 LPPR5 163404 broad.mit.edu 37 1 99418669 99418669 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:99418669G>A ENST00000370188.3 - 3 938 c.578C>T c.(577-579)tCc>tTc p.S193F LPPR5_ENST00000263177.4_Missense_Mutation_p.S193F NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 193 integral to membrane hydrolase activity TGCTTCTTTGGATGGAAAGGT 0.408000 21 69 0 0 0.00188189 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927151 111927151 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:111927151C>T ENST00000305815.5 - 16 2112 c.1860G>A c.(1858-1860)gtG>gtA p.V620V SLC9C1_ENST00000487372.1_Silent_p.V572V NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 620 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TCATTAATATCACAAGGTATC 0.294000 45 143 0 0 0.000781405 0 0 CASR 846 broad.mit.edu 37 3 121980867 121980867 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121980867G>A ENST00000498619.1 + 4 1423 c.985G>A c.(985-987)Ggc>Agc p.G329S CASR_ENST00000490131.1_Missense_Mutation_p.G329S|CASR_ENST00000296154.5_Missense_Mutation_p.G329S NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 329 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) GCAGATCCCAGGCTTCCGGGA 0.557000 15 30 0 0 0.000308642 0 0 NLRP10 338322 broad.mit.edu 37 11 7982828 7982828 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:7982828C>T ENST00000328600.2 - 2 492 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 111 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCTGCCATTCCTCTAGGCAG 0.517000 19 56 0 0 0.00278032 0 0 ARPP21 10777 broad.mit.edu 37 3 35732458 35732458 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:35732458G>A ENST00000187397.4 + 9 1103 c.647G>A c.(646-648)gGa>gAa p.G216E ARPP21_ENST00000417925.1_Missense_Mutation_p.G216E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G216E|ARPP21_ENST00000337271.5_Missense_Mutation_p.G216E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G216E NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 216 R3H. 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 GATCAAACAGGAAAATCTGTT 0.378000 39 49 0 0 0.00195071 0 0 LPHN2 23266 broad.mit.edu 37 1 82435023 82435023 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:82435023C>T ENST00000370728.1 + 17 3318 c.2673C>T c.(2671-2673)ttC>ttT p.F891F LPHN2_ENST00000370713.1_Silent_p.F878F|LPHN2_ENST00000370717.2_Silent_p.F891F|LPHN2_ENST00000359929.3_Silent_p.F878F|LPHN2_ENST00000370723.1_Silent_p.F878F|LPHN2_ENST00000370715.1_Silent_p.F878F|LPHN2_ENST00000370727.1_Silent_p.F891F|LPHN2_ENST00000335786.5_Silent_p.F891F|LPHN2_ENST00000319517.6_Silent_p.F878F|LPHN2_ENST00000370730.1_Silent_p.F891F|LPHN2_ENST00000271029.4_Silent_p.F891F|LPHN2_ENST00000370721.1_Silent_p.F816F|LPHN2_ENST00000370725.1_Silent_p.F891F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000394879.1_Silent_p.F878F O95490 LPHN2_HUMAN latrophilin 2 891 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCAACCTTTTCATTGCTGAAT 0.378000 36 94 0 0 0.000692331 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247385 142247385 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142247385G>A ENST00000390361.3 - 0 120 GGGGGTCTGGGAGACTCCAGC 0.478000 11 35 0 0 0.00136819 0 0 BMP10 27302 broad.mit.edu 37 2 69093461 69093461 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:69093461C>T ENST00000295379.1 - 2 735 c.577G>A c.(577-579)Gga>Aga p.G193R NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 193 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 CTGTTGGTTCCATATATCTCC 0.483000 11 37 0 0 0.000978159 0 0 BCL11A 53335 broad.mit.edu 37 2 60688963 60688963 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:60688963G>A ENST00000335712.6 - 4 1311 c.1084C>T c.(1084-1086)Cct>Tct p.P362S BCL11A_ENST00000356842.4_Missense_Mutation_p.P362S|BCL11A_ENST00000358510.4_Missense_Mutation_p.P328S|BCL11A_ENST00000538214.1_Missense_Mutation_p.P328S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 362 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GATTGCAGAGGAGGGAGGGGG 0.637000 T IGH@ B-CLL 88 124 0 0 0.000781405 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6473925 6473925 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:6473925T>A ENST00000382599.4 - 1 248 c.32A>T c.(31-33)aAc>aTc p.N11I PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 11 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 GAAGCTGTGGTTAATTTTCCG 0.657000 47 96 0 0 0.000781405 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996397 140996397 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:140996397C>T ENST00000285879.4 + 4 3493 c.3207C>T c.(3205-3207)ttC>ttT p.F1069F MAGEC1_ENST00000406005.2_Silent_p.F136F NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1069 MAGE. protein binding p.F1069F(1) 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) GTTACGAATTCCTGTGGGGTC 0.488000 HNSCC(15;0.026) 48 37 0 0 0.000781405 0 0 LRBA 987 broad.mit.edu 37 4 151770044 151770044 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:151770044G>A ENST00000535741.1 - 26 4738 c.4265C>T c.(4264-4266)tCt>tTt p.S1422F LRBA_ENST00000510413.1_Missense_Mutation_p.S1422F|LRBA_ENST00000357115.3_Missense_Mutation_p.S1422F|LRBA_ENST00000507224.1_Missense_Mutation_p.S1422F P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1422 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AAAGCCAAGAGAACTTGCAAA 0.413000 36 111 0 0 0.00148497 0 0 CBLL1 79872 broad.mit.edu 37 7 107399438 107399438 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:107399438C>T ENST00000440859.2 + 6 1758 c.1291C>T c.(1291-1293)Cag>Tag p.Q431* CBLL1_ENST00000222597.2_Nonsense_Mutation_p.Q430* NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 431 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CTCATTACCCCAGTTCACTGA 0.522000 18 63 0 0 0.00121646 0 0 ASNS 440 broad.mit.edu 37 7 97498279 97498279 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:97498279C>T ENST00000175506.4 - 4 718 c.190G>A c.(190-192)Gtg>Atg p.V64M ASNS_ENST00000422745.1_Missense_Mutation_p.V43M|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.V43M|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394309.3_Missense_Mutation_p.V64M|ASNS_ENST00000394308.3_Missense_Mutation_p.V64M NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 64 Glutamine amidotransferase type-2. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TATTTCTTCACTCGAATTGGC 0.433000 15 30 0 0 0.00074312 0 0 KCND2 3751 broad.mit.edu 37 7 119914607 119914607 + Translation_Start_Site SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:119914607A>T ENST00000331113.4 + 0 886 NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCTTGACTGGAGGAAGTGGGT 0.517000 21 53 0 0 0.00152264 0 0 IDE 3416 broad.mit.edu 37 10 94291658 94291658 + Silent SNP G G A rs34747737 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:94291658G>A ENST00000265986.6 - 4 564 c.508C>T c.(508-510)Ctg>Ttg p.L170L NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 170 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGGGGCACAGAAAAAACTGT 0.353000 126 132 0 0 0.000781405 0 0 LRP5L 91355 broad.mit.edu 37 22 25755824 25755824 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:25755824G>A ENST00000444995.3 - 4 936 c.236C>T c.(235-237)cCc>cTc p.P79L LRP5L_ENST00000402785.2_Missense_Mutation_p.P79L|LRP5L_ENST00000402859.2_Missense_Mutation_p.P79L A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 79 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 AATGGCACGGGGCTCGTCCAT 0.607000 19 62 0 0 0.00188189 0 0 COL4A6 1288 broad.mit.edu 37 X 107447583 107447583 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:107447583G>A ENST00000394872.2 - 13 972 c.741C>T c.(739-741)ttC>ttT p.F247F COL4A6_ENST00000372216.4_Silent_p.F250F|COL4A6_ENST00000334504.7_Silent_p.F249F|COL4A6_ENST00000545689.1_Silent_p.F249F|COL4A6_ENST00000538570.1_Silent_p.F249F Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 250 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GGAATCCCATGAATTCCAGCT 0.398000 Alport syndrome with Diffuse Leiomyomatosis 20 9 0 0 0.00047179 0 0 SPACA7 122258 broad.mit.edu 37 13 113052392 113052392 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113052392C>T ENST00000375699.3 + 2 260 c.88C>T c.(88-90)Ctg>Ttg p.L30L SPACA7_ENST00000283550.3_Silent_p.L61L Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 61 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 GATTTTAGATCTGAATAAAAC 0.478000 27 76 0 0 0.001512 0 0 LONP2 83752 broad.mit.edu 37 16 48296762 48296762 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:48296762C>T ENST00000285737.4 + 6 1054 c.961C>T c.(961-963)Cct>Tct p.P321S LONP2_ENST00000535754.1_Missense_Mutation_p.P277S NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 321 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTAGAACTTCCTTGGAACAA 0.348000 15 18 0 0 0.000566183 0 0 C6orf58 352999 broad.mit.edu 37 6 127898383 127898383 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:127898383C>T ENST00000329722.7 + 1 65 c.53C>T c.(52-54)tCc>tTc p.S18F C6orf58_ENST00000498112.1_Intron NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 18 extracellular region p.S18F(1) kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TTTTCTGCTTCCTTAGCAGGG 0.502000 18 67 0 0 0.00121646 0 0 LCN9 392399 broad.mit.edu 37 9 138555263 138555263 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:138555263G>A ENST00000277526.3 + 1 96 c.96_splice c.e1+1 p.R32_splice LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 32 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) ACGTGGCCAGGGTGTGTCTGC 0.617000 15 22 0 0 0.000566183 0 0 PSG2 5670 broad.mit.edu 37 19 43579626 43579626 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43579626C>T ENST00000406487.1 - 3 687 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 197 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CTGTTGGTTTCGGACAGCTGA 0.498000 89 196 0 0 0.000781405 0 0 OR10X1 128367 broad.mit.edu 37 1 158549368 158549368 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158549368T>C ENST00000368150.1 - 1 321 c.322A>G c.(322-324)Att>Gtt p.I108V NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GTGACTGAAATGCTTCTGTCC 0.478000 27 52 0 0 0.000878237 0 0 MUC16 94025 broad.mit.edu 37 19 9075932 9075932 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9075932C>T ENST00000397910.4 - 3 11717 c.11514G>A c.(11512-11514)gtG>gtA p.V3838V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3839 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 TGTGTGGGATCACATCCAGAG 0.512000 36 80 0 0 0.000692331 0 0 OR6C4 341418 broad.mit.edu 37 12 55945125 55945125 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55945125G>A ENST00000394256.2 + 1 143 c.115G>A c.(115-117)Gga>Aga p.G39R RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 AAGTATCCTAGGAAATCTGAC 0.423000 46 110 0 0 0.000781405 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096357 73096357 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:73096357C>T ENST00000450736.2 + 4 1014 c.599C>T c.(598-600)aCc>aTc p.T200I SLC16A5_ENST00000329783.4_Missense_Mutation_p.T200I|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T240I|SLC16A5_ENST00000580123.1_Missense_Mutation_p.T200I O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 200 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCCCCTGAGACCAAAGAATGT 0.647000 15 15 0 0 0.00244969 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359170 64359170 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64359170C>T ENST00000377574.1 + 1 889 c.142C>T c.(142-144)Cgc>Tgc p.R48C SLC22A12_ENST00000377572.1_Missense_Mutation_p.R48C|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R48C|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R48C NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 48 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity p.S41fs*22(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GCCCAGCCACCGCTGCTGGGC 0.637000 7 12 0 0 0.000157383 0 0 DNMT1 1786 broad.mit.edu 37 19 10246816 10246816 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10246816G>A ENST00000340748.4 - 37 4824 c.4589C>T c.(4588-4590)cCc>cTc p.P1530L DNMT1_ENST00000359526.4_Missense_Mutation_p.P1546L|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1533L P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1530 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.P1530L(1) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CATGGGCTCGGGGTTGGTGAC 0.652000 7 29 0 0 0.000274275 0 0 CFAP54 144535 broad.mit.edu 37 12 97102521 97102521 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:97102521G>A ENST00000524981.3 + 15 2017 c.2017G>A c.(2017-2019)Gaa>Aaa p.E673K Q6ZTY8 CL063_HUMAN 647 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 TTGTGTCCCAGAAAATAAATT 0.333000 23 66 0 0 0.000586117 0 0 LCA5 167691 broad.mit.edu 37 6 80196870 80196870 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:80196870G>A ENST00000392959.1 - 9 2556 c.1945C>T c.(1945-1947)Caa>Taa p.Q649* LCA5_ENST00000369846.4_Nonsense_Mutation_p.Q649* NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 649 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TCATGTTCTTGATCTCTGCTG 0.413000 37 95 0 0 0.00148497 0 0 SLC2A2 6514 broad.mit.edu 37 3 170716075 170716075 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:170716075G>A ENST00000314251.3 - 10 1360 c.1281C>T c.(1279-1281)ttC>ttT p.F427F SLC2A2_ENST00000382808.4_Silent_p.F308F NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 427 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GTCCTTGACTGAAAAACTCAG 0.473000 19 54 0 0 0.00152264 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761582 13761582 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13761582G>A ENST00000279593.3 - 9 2174 c.1965C>T c.(1963-1965)atC>atT p.I655I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 655 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATTCCTCTTGGATCATGAAGG 0.498000 16 24 0 0 0.000422831 0 0 ACSL6 23305 broad.mit.edu 37 5 131308513 131308513 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:131308513G>A ENST00000379264.2 - 13 1350 c.1242C>T c.(1240-1242)ctC>ctT p.L414L ACSL6_ENST00000296869.4_Silent_p.L414L|ACSL6_ENST00000379246.1_Silent_p.L400L|ACSL6_ENST00000379249.3_Silent_p.L389L|ACSL6_ENST00000379240.1_Silent_p.L389L|ACSL6_ENST00000379255.1_Silent_p.L314L|ACSL6_ENST00000357096.1_Silent_p.L314L|ACSL6_ENST00000543479.1_Silent_p.L389L|ACSL6_ENST00000379244.1_Silent_p.L389L|ACSL6_ENST00000544770.1_Silent_p.L298L|ACSL6_ENST00000379272.2_Silent_p.L404L|ACSL6_ENST00000431707.1_Silent_p.L369L NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 389 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAAACTCCAGGAGCCAGCGCT 0.453000 24 50 0 0 0.000878237 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157146 65157146 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:65157146C>T ENST00000323544.4 + 6 660 c.532C>T c.(532-534)Ccg>Tcg p.P178S AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 178 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCTTGATGTTCCGGACAGTGG 0.592000 54 38 0 0 0.000781405 0 0 OR3A1 4994 broad.mit.edu 37 17 3195490 3195490 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:3195490G>A ENST00000323404.1 - 1 386 c.387C>T c.(385-387)atC>atT p.I129I RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 GGGGCCGGCAGATGGCCAGGA 0.597000 22 27 0 0 0.00229938 0 0 CD163L1 283316 broad.mit.edu 37 12 7556136 7556136 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7556136C>T ENST00000313599.3 - 6 1460 c.1403G>A c.(1402-1404)tGt>tAt p.C468Y CD163L1_ENST00000416109.2_Missense_Mutation_p.C478Y|CD163L1_ENST00000396630.1_Missense_Mutation_p.C468Y Q9NR16 C163B_HUMAN CD163 molecule-like 1 468 SRCR 4. 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 CTTACCAGAACAAATTACTCC 0.393000 18 45 0 0 0.00152264 0 0 MME 4311 broad.mit.edu 37 3 154859807 154859807 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:154859807G>A ENST00000460393.1 + 11 1105 c.985G>A c.(985-987)Gaa>Aaa p.E329K MME_ENST00000462745.1_Missense_Mutation_p.E329K|MME_ENST00000360490.2_Missense_Mutation_p.E329K|MME_ENST00000492661.1_Missense_Mutation_p.E329K|MME_ENST00000493237.1_Missense_Mutation_p.E329K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 329 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTTCACAAATGAAATCATGTC 0.343000 21 56 0 0 0.00121646 0 0 ZNF653 115950 broad.mit.edu 37 19 11609119 11609119 + Nonsense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:11609119C>A ENST00000585656.1 - 2 246 c.247G>T c.(247-249)Gga>Tga p.G83* ZNF653_ENST00000293771.5_Missense_Mutation_p.R112L|ZNF653_ENST00000593191.1_5'UTR ACTTTTCTTCCGCTTTGGCTT 0.607000 6 195 0.00198382 0.00762708 0.00198382 1 0 HIVEP2 3097 broad.mit.edu 37 6 143081087 143081087 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:143081087G>A ENST00000367603.2 - 9 7080 c.6338C>T c.(6337-6339)cCa>cTa p.P2113L HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2113L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2113L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2113 10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGGCCTCCTTGGAGACAAATG 0.468000 11 26 0 0 0.000673444 0 0 CCDC62 84660 broad.mit.edu 37 12 123273346 123273346 + Nonsense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:123273346T>A ENST00000253079.6 + 5 884 c.540T>A c.(538-540)tgT>tgA p.C180* CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Nonsense_Mutation_p.C180*|CCDC62_ENST00000537566.1_Intron NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 180 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TTGCAGATTGTTCGGGTAAAT 0.348000 24 66 0 0 0.000720815 0 0 FLNB 2317 broad.mit.edu 37 3 58141800 58141800 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:58141800C>T ENST00000295956.4 + 41 7051 c.6886C>T c.(6886-6888)Cag>Tag p.Q2296* FLNB_ENST00000429972.2_Nonsense_Mutation_p.Q2285*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.Q2116*|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Nonsense_Mutation_p.Q2327*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.Q2272*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.Q2103*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.Q2255* NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2296 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) TATGAGCCTTCAGGTGAGATG 0.602000 8 20 0 0 0.000157383 0 0 LRP1 4035 broad.mit.edu 37 12 57585135 57585135 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57585135C>T ENST00000243077.3 + 44 7735 c.7269C>T c.(7267-7269)ttC>ttT p.F2423F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2423 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) TCCACCCCTTCGGGCTGGCCG 0.617000 7 21 0 0 0.00198382 0 0 SEC14L1 6397 broad.mit.edu 37 17 75186987 75186987 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:75186987G>A ENST00000413679.2 + 4 469 c.166G>A c.(166-168)Gaa>Aaa p.E56K SEC14L1_ENST00000585618.1_Missense_Mutation_p.E56K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E56K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E56K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E22K|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E56K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E56K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E22K NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 56 PRELI/MSF1. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TCATGTCATTGAAAGGCGCTG 0.512000 29 90 0 0 0.0024448 0 0 RNASET2 8635 broad.mit.edu 37 6 167343100 167343100 + Silent SNP G G A rs76894173 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:167343100G>A ENST00000366855.6 - 10 1308 c.633C>T c.(631-633)ccC>ccT p.P211P RNASET2_ENST00000476238.2_Silent_p.P249P|RNASET2_ENST00000508775.1_Silent_p.P249P|RP11-514O12.4_ENST00000507747.1_Intron O00584 RNT2_HUMAN ribonuclease T2 249 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) TTTTAGGTGGGGGATAGAAGA 0.502000 100 234 0 0 0.000781405 0 0 HTR2A 3356 broad.mit.edu 37 13 47409042 47409042 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:47409042C>T ENST00000378688.4 - 3 1477 c.1346G>A c.(1345-1347)gGa>gAa p.G449E HTR2A_ENST00000543956.1_Missense_Mutation_p.G365E|HTR2A_ENST00000542664.1_Missense_Mutation_p.G449E P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 449 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) ATGCTGCTTTCCTAGAGCAAC 0.448000 41 92 0 0 0.0025221 0 0 LTN1 26046 broad.mit.edu 37 21 30365209 30365209 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:30365209G>A ENST00000389194.2 - 1 61 c.56C>T c.(55-57)tCt>tTt p.S19F LTN1_ENST00000389195.2_Missense_Mutation_p.S19F|LTN1_ENST00000361371.4_5'UTR O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 0 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GGCGGCGGAAGAGGACACCCT 0.632000 4 6 0 0 0.00024832 0 0 NRP2 8828 broad.mit.edu 37 2 206580965 206580965 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:206580965C>T ENST00000360409.3 + 3 1091 c.300C>T c.(298-300)ctC>ctT p.L100L NRP2_ENST00000357118.4_Silent_p.L100L|NRP2_ENST00000357785.5_Silent_p.L100L|NRP2_ENST00000540841.1_Silent_p.L100L|NRP2_ENST00000355117.4_Silent_p.L100L|NRP2_ENST00000412873.2_Silent_p.L100L|NRP2_ENST00000272849.3_Silent_p.L100L|NRP2_ENST00000540178.1_Silent_p.L100L|NRP2_ENST00000417189.1_Silent_p.L100L NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 100 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCGCAGACCTCCTGGGCAAAC 0.577000 28 58 0 0 0.00127121 0 0 ZBBX 79740 broad.mit.edu 37 3 167051674 167051674 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:167051674C>T ENST00000392766.2 - 10 968 c.628G>A c.(628-630)Gaa>Aaa p.E210K ZBBX_ENST00000307529.5_Missense_Mutation_p.E210K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E210K|ZBBX_ENST00000392767.2_Missense_Mutation_p.E210K|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.E181K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 210 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TTACTGGTTTCCTTTGTAGAA 0.348000 30 49 0 0 0.00127121 0 0 PTPDC1 138639 broad.mit.edu 37 9 96859746 96859746 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:96859746C>T ENST00000375360.3 + 7 1076 c.736C>T c.(736-738)Cct>Tct p.P246S PTPDC1_ENST00000288976.3_Missense_Mutation_p.P298S NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 246 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GTTTCTAACTCCTCTCCGCAA 0.453000 47 57 0 0 0.000781405 0 0 OR4A15 81328 broad.mit.edu 37 11 55135991 55135991 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55135991C>T ENST00000314706.3 + 1 632 c.632C>T c.(631-633)cCc>cTc p.P211L NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GATTTGTATCCCTTATTGAAA 0.413000 30 29 0 0 0.00058488 0 0 DMRT1 1761 broad.mit.edu 37 9 847071 847071 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:847071C>T ENST00000382276.3 + 2 615 c.466C>T c.(466-468)Ccg>Tcg p.P156S DMRT1_ENST00000569227.1_5'UTR NM_021951.2 NP_068770.2 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 1 156 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(10)|ovary(1) 13 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) TGGCAGTAACCCGTGCCTCAT 0.607000 13 16 0 0 0.000308642 0 0 KLF3 51274 broad.mit.edu 37 4 38690447 38690447 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38690447C>T ENST00000261438.5 + 3 604 c.299C>T c.(298-300)tCc>tTc p.S100F KLF3_ENST00000514033.1_Missense_Mutation_p.S100F NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 100 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 ATGCCTTCTTCCAGCCCACCG 0.617000 18 50 0 0 0.00188189 0 0 FOXJ2 55810 broad.mit.edu 37 12 8192620 8192620 + Silent SNP C C T rs148966560 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:8192620C>T ENST00000162391.3 + 2 1337 c.192C>T c.(190-192)gaC>gaT p.D64D FOXJ2_ENST00000428177.2_Silent_p.D64D NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 64 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TGCACCAGGACGGCAAGCCAC 0.587000 18 35 0 0 0.00074312 0 0 FGGY 55277 broad.mit.edu 37 1 59805663 59805663 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:59805663C>T ENST00000371218.4 + 3 419 c.235C>T c.(235-237)Cga>Tga p.R79* FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Nonsense_Mutation_p.R79*|FGGY_ENST00000371212.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 79 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AAACCAAATTCGAGGACTTGG 0.363000 25 24 0 0 0.00178596 0 0 TNXB 7148 broad.mit.edu 37 6 32037450 32037450 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32037450C>T ENST00000375244.3 - 15 5668 c.5467G>A c.(5467-5469)Gag>Aag p.E1823K TNXB_ENST00000375247.2_Missense_Mutation_p.E1823K P22105 TENX_HUMAN tenascin XB 1905 Fibronectin type-III 10. 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 AGGCTGCCCTCCACGGGCACC 0.662000 59 170 0 0 0.000781405 0 0 KRT80 144501 broad.mit.edu 37 12 52579308 52579308 + Missense_Mutation SNP C C T rs142483540 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52579308C>T ENST00000313234.5 - 2 461 c.364G>A c.(364-366)Gac>Aac p.D122N KRT80_ENST00000394815.2_Missense_Mutation_p.D122N NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 122 Linker 1.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) ATGGCTGAGTCCTGGCCCTGC 0.637000 9 16 0 0 0.000978159 0 0 PLA2G6 8398 broad.mit.edu 37 22 38508283 38508283 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38508283A>C ENST00000332509.3 - 17 2489 c.2306T>G c.(2305-2307)aTg>aGg p.M769R PLA2G6_ENST00000335539.3_Missense_Mutation_p.M715R|PLA2G6_ENST00000402064.1_Missense_Mutation_p.M715R NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 769 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) CTCATCCAGCATGATGTCCGT 0.617000 5 12 0 0 0.000602214 0 0 ZNF235 9310 broad.mit.edu 37 19 44791596 44791596 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:44791596G>A ENST00000291182.4 - 5 2094 c.1992C>T c.(1990-1992)ttC>ttT p.F664F ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CACTCCAACTGAATTCTTTCC 0.483000 25 42 0 0 0.00278032 0 0 UBE4A 9354 broad.mit.edu 37 11 118252157 118252157 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:118252157C>T ENST00000252108.3 + 12 2059 c.1928C>T c.(1927-1929)gCc>gTc p.A643V UBE4A_ENST00000545354.1_Missense_Mutation_p.A115V|UBE4A_ENST00000431736.2_Missense_Mutation_p.A650V NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 643 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CGCCGCTTTGCCGATGACATT 0.398000 45 50 0 0 0.000781405 0 0 KRT9 3857 broad.mit.edu 37 17 39724826 39724826 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39724826C>T ENST00000246662.4 - 5 1169 c.1104G>A c.(1102-1104)aaG>aaA p.K368K KRT9_ENST00000588431.1_Silent_p.K135K NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 368 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GGGTCACCTCCTTGGCACTGG 0.547000 164 183 0 0 0.000781405 0 0 MRPL4 51073 broad.mit.edu 37 19 10369321 10369321 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10369321C>T ENST00000393733.2 + 8 726 c.699C>T c.(697-699)gcC>gcT p.A233A CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000253099.6_Silent_p.A233A|MRPL4_ENST00000307422.5_Silent_p.A233A|MRPL4_ENST00000590669.1_Silent_p.A233A Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 233 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TCGTGGAGGCCACCTCTAGGC 0.592000 20 39 0 0 0.000958276 0 0 SACS 26278 broad.mit.edu 37 13 23906653 23906653 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:23906653G>A ENST00000382298.3 - 10 11950 c.11362C>T c.(11362-11364)Cgt>Tgt p.R3788C SACS_ENST00000402364.1_Missense_Mutation_p.R3038C|SACS_ENST00000382292.3_Missense_Mutation_p.R3788C NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3788 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.R3641C(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTGAAAACGAAATTCCCTT 0.383000 25 40 0 0 0.000720815 0 0 IGHG1 3500 broad.mit.edu 37 14 106208459 106208459 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:106208459C>T ENST00000390548.2 - 0 440 GGCTCACGTCCACCACCACGC 0.592000 39 34 0 0 0.000814825 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140753756 140753756 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140753756C>T ENST00000517434.1 + 1 106 c.106C>T c.(106-108)Ccc>Tcc p.P36S PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTCTATTCCCGAGGAGCT 0.662000 8 14 0 0 0.000274275 0 0 MAN1A2 10905 broad.mit.edu 37 1 117984892 117984892 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:117984892C>T ENST00000356554.3 + 6 1630 c.895C>T c.(895-897)Ctt>Ttt p.L299F NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 299 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGAGAAACTCCTTCCTGCCTT 0.343000 23 108 0 0 0.000878237 0 0 TCTN1 79600 broad.mit.edu 37 12 111066746 111066746 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:111066746C>T ENST00000550703.2 + 4 803 c.647C>T c.(646-648)tCt>tTt p.S216F TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551590.1_Intron|HVCN1_ENST00000548312.1_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 218 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 TTGATTGATTCTTTTCATCCC 0.348000 9 32 0 0 0.000274275 0 0 IPO5 3843 broad.mit.edu 37 13 98645155 98645155 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:98645155G>A ENST00000261574.5 + 10 913 c.733G>A c.(733-735)Gac>Aac p.D245N IPO5_ENST00000539640.1_Missense_Mutation_p.D102N|IPO5_ENST00000490680.1_Missense_Mutation_p.D227N NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 227 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GGCGGTAAATGACTCGTGCTA 0.403000 29 65 0 0 0.001512 0 0 MSR1 4481 broad.mit.edu 37 8 16012621 16012621 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:16012621G>A ENST00000350896.3 - 6 1047 c.850C>T c.(850-852)Cga>Tga p.R284* MSR1_ENST00000381998.4_Nonsense_Mutation_p.R284*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.R284*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.R302*|MSR1_ENST00000536385.1_Nonsense_Mutation_p.R58*|MSR1_ENST00000262101.5_Nonsense_Mutation_p.R284* NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 284 Collagen-like. 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) GTGGGACCTCGATCTCCTTTT 0.393000 18 33 0 0 0.000958276 0 0 CD86 942 broad.mit.edu 37 3 121828152 121828152 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121828152G>A ENST00000330540.2 + 5 860 c.744G>A c.(742-744)tgG>tgA p.W248* CD86_ENST00000469710.1_Nonsense_Mutation_p.W166*|CD86_ENST00000264468.5_Nonsense_Mutation_p.W35*|CD86_ENST00000493101.1_Nonsense_Mutation_p.W136*|CD86_ENST00000393627.2_Nonsense_Mutation_p.W242* NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 248 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ACATTCCTTGGATTACAGCTG 0.413000 28 64 0 0 0.000878237 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175450 140175450 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140175450G>A ENST00000526136.1 + 1 901 c.901G>A c.(901-903)Gaa>Aaa p.E301K PCDHA2_ENST00000520672.2_Missense_Mutation_p.E301K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E301K|PCDHA1_ENST00000504120.2_Intron 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) CATCTCAGGGGAAATCAGAAC 0.433000 12 26 0 0 0.00185496 0 0 HYDIN 54768 broad.mit.edu 37 16 70884501 70884501 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:70884501C>T ENST00000393567.2 - 74 12651 c.12501G>A c.(12499-12501)ttG>ttA p.L4167L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4167 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) CATTGCAGATCAAATTAAAGT 0.443000 8 22 0 0 0.000442599 0 0 SLC30A9 10463 broad.mit.edu 37 4 42037347 42037347 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:42037347C>T ENST00000264451.6 + 7 846 c.666C>T c.(664-666)acC>acT p.T222T NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 222 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 TGGGAAATACCAAGGTATGGA 0.303000 20 55 0 0 0.00278032 0 0 GCNT4 51301 broad.mit.edu 37 5 74324903 74324903 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:74324903G>A ENST00000322348.4 - 1 1821 c.960C>T c.(958-960)atC>atT p.I320I NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 320 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) AGTCTTGAACGATGGAGTTGT 0.408000 18 30 0 0 0.00229938 0 0 BTBD11 121551 broad.mit.edu 37 12 108013935 108013935 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:108013935G>A ENST00000280758.5 + 11 3153 c.2625G>A c.(2623-2625)gcG>gcA p.A875A BTBD11_ENST00000357167.4_Silent_p.A412A|BTBD11_ENST00000420571.2_Silent_p.A756A|BTBD11_ENST00000490090.2_Silent_p.A875A NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 875 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCCTGAAAGCGAGCAAGGTAT 0.507000 18 41 0 0 0.00121646 0 0 GABRA4 2557 broad.mit.edu 37 4 46930372 46930372 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:46930372C>T ENST00000264318.3 - 9 2517 c.1535G>A c.(1534-1536)gGa>gAa p.G512E NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 512 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 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTGCCAGATCCAGAAGGTGG 0.433000 39 93 0 0 0.000680045 0 0 OR13C3 138803 broad.mit.edu 37 9 107298427 107298427 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107298427G>A ENST00000374781.2 - 1 710 c.668C>T c.(667-669)tCc>tTc p.S223F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 223 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 AATATTGAGGGATATATCAGC 0.393000 25 89 0 0 0.000720815 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77529010 77529010 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:77529010G>A ENST00000373304.3 - 3 526 c.234C>T c.(232-234)ctC>ctT p.L78L NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 78 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AGACCACACGGAGAGGCAGTG 0.423000 7 9 0 0 0.000274275 0 0 MYOC 4653 broad.mit.edu 37 1 171621335 171621335 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:171621335C>T ENST00000037502.5 - 1 476 c.417G>A c.(415-417)gaG>gaA p.E139E NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 139 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) TGTAGGCAGTCTCCAACTCTC 0.592000 29 66 0 0 0.000878237 0 0 FNDC1 84624 broad.mit.edu 37 6 159692442 159692442 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:159692442G>A ENST00000297267.9 + 23 5853 c.5653G>A c.(5653-5655)Gag>Aag p.E1885K FNDC1_ENST00000340366.6_Missense_Mutation_p.E1822K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1885 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GGGCTGGTACGAGTGTGGGGT 0.577000 5 11 0 0 0.000602214 0 0 PROL1 58503 broad.mit.edu 37 4 71275427 71275427 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71275427C>T ENST00000399575.2 + 3 556 c.382C>T c.(382-384)Cct>Tct p.P128S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 128 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity p.P128S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) TCCTCCTATTCCTTTTTTTCT 0.433000 36 93 0 0 0.000692331 0 0 ANKH 56172 broad.mit.edu 37 5 14751205 14751205 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:14751205G>A ENST00000284268.6 - 5 990 c.660C>T c.(658-660)atC>atT p.I220I ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.I22I NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 220 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TTCTGTCAGGGATGATGTCGT 0.542000 18 40 0 0 0.000958276 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53639522 53639522 + Missense_Mutation SNP G G A rs151332923 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:53639522G>A ENST00000262135.4 - 24 3559 c.3466C>T c.(3466-3468)Cgc>Tgc p.R1156C RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R1236C|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1190C|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1202C NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1236 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ACGGTGAAGCGAAGGCTGGTA 0.517000 15 146 0 0 0.000308642 0 0 MCTP1 79772 broad.mit.edu 37 5 94275859 94275859 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:94275859G>A ENST00000515393.1 - 5 1101 c.1102C>T c.(1102-1104)Cct>Tct p.P368S MCTP1_ENST00000429576.2_Missense_Mutation_p.P147S|MCTP1_ENST00000312216.8_Missense_Mutation_p.P147S|MCTP1_ENST00000505208.1_Missense_Mutation_p.P147S NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 368 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) TCATGGTCAGGATAATGAGGA 0.403000 45 94 0 0 0.000781405 0 0 ADCY8 114 broad.mit.edu 37 8 131859750 131859750 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:131859750C>T ENST00000286355.5 - 11 4514 c.2422G>A c.(2422-2424)Gat>Aat p.D808N ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 808 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) TTGTCAAAATCACACCACAGC 0.393000 HNSCC(32;0.087) 18 42 0 0 0.000958276 0 0 OR2A25 392138 broad.mit.edu 37 7 143771942 143771942 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143771942C>T ENST00000408898.2 + 1 668 c.630C>T c.(628-630)ttC>ttT p.F210F NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F210F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGGGAGCCTTCTTTTCCACTG 0.473000 35 66 0 0 0.000692331 0 0 DYRK2 8445 broad.mit.edu 37 12 68051932 68051932 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:68051932C>T ENST00000344096.3 + 3 1658 c.1245C>T c.(1243-1245)ctC>ctT p.L415L DYRK2_ENST00000393555.3_Silent_p.L342L NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 415 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TAGCAGAGCTCCTGACGGGTT 0.552000 9 16 0 0 0.000442599 0 0 GRM3 2913 broad.mit.edu 37 7 86416063 86416063 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86416063G>A ENST00000361669.2 + 3 2054 c.955G>A c.(955-957)Ggc>Agc p.G319S GRM3_ENST00000394720.2_Missense_Mutation_p.G317S|GRM3_ENST00000439827.1_Missense_Mutation_p.G319S|GRM3_ENST00000536043.1_Missense_Mutation_p.G191S|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 319 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGTGGCCTACGGCGCCATCAC 0.672000 12 20 0 0 0.00136819 0 0 ITGA8 8516 broad.mit.edu 37 10 15573138 15573138 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:15573138G>A ENST00000378076.3 - 28 3246 c.2893C>T c.(2893-2895)Ccc>Tcc p.P965S NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 965 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AGAGCATAGGGATCATTTTTT 0.338000 21 60 0 0 0.00188189 0 0 R3HDM1 23518 broad.mit.edu 37 2 136433040 136433040 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:136433040C>T ENST00000264160.4 + 19 2556 c.2186C>T c.(2185-2187)tCa>tTa p.S729L R3HDM1_ENST00000410054.1_Missense_Mutation_p.S674L|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S730L|R3HDM1_ENST00000409478.1_Missense_Mutation_p.S601L|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S600L NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 729 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CCCTATACTTCAGTGCCAACA 0.418000 24 68 0 0 0.00106085 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322296 67322296 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:67322296C>T ENST00000360461.5 + 19 5982 c.3447C>T c.(3445-3447)ccC>ccT p.P1149P PLEKHG4_ENST00000379344.3_Silent_p.P1149P|PLEKHG4_ENST00000450733.1_Silent_p.P1068P|PLEKHG4_ENST00000427155.2_Silent_p.P1149P NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1149 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GCGGCCAGCCCTCTTTGAGTA 0.627000 11 20 0 0 0.000673444 0 0 ADAM18 8749 broad.mit.edu 37 8 39486947 39486947 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:39486947G>A ENST00000265707.5 + 7 622 c.577G>A c.(577-579)Gaa>Aaa p.E193K ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.E193K NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 193 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTATAGTGGAAAAAGCTTT 0.318000 25 59 0 0 0.000878237 0 0 FOXK1 221937 broad.mit.edu 37 7 4798970 4798970 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:4798970C>T ENST00000328914.4 + 7 1440 c.1440C>T c.(1438-1440)atC>atT p.I480I FOXK1_ENST00000446823.1_Silent_p.I317I NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 480 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGCCAGTGATCATGGCCGTGC 0.746000 7 10 0 0 0.000978159 0 0 FLNC 2318 broad.mit.edu 37 7 128478071 128478071 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128478071C>T ENST00000325888.8 + 6 1261 c.1000C>T c.(1000-1002)Cgc>Tgc p.R334C FLNC_ENST00000346177.6_Missense_Mutation_p.R334C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 334 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 TGACAAGGATCGCACCTATGC 0.537000 29 45 0 0 0.000814825 0 0 TEX26 122046 broad.mit.edu 37 13 31513914 31513914 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:31513914C>T ENST00000380473.3 + 2 158 c.146_splice c.e2+1 p.R49_splice NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 49 TGCCTTAATTCGGTAGATCAT 0.383000 14 41 0 0 0.000422831 0 0 GBF1 8729 broad.mit.edu 37 10 104126904 104126904 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:104126904C>T ENST00000369983.3 + 20 2753 c.2493C>T c.(2491-2493)atC>atT p.I831I NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 831 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ATGCTGTCATCATGCTTAATA 0.493000 46 47 0 0 0.000781405 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475713 42475713 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:42475713G>A ENST00000434000.1 - 9 3780 c.3498C>T c.(3496-3498)ctC>ctT p.L1166L GPATCH8_ENST00000591680.1_Silent_p.L1244L Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1244 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGGGGTCGGGGAGGTAGTTAT 0.597000 70 85 0 0 0.000781405 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380147 380147 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:380147G>A ENST00000329962.6 + 17 2660 c.2660G>A c.(2659-2661)cGa>cAa p.R887Q NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 887 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TACCTGAGACGAACCGGGAAC 0.687000 5 13 0 0 0.00198382 0 0 TEX19 400629 broad.mit.edu 37 17 80320140 80320140 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:80320140C>T ENST00000333437.4 + 2 424 c.114C>T c.(112-114)ttC>ttT p.F38F NM_207459.3 NP_997342.1 Q8NA77 TEX19_HUMAN testis expressed 19 38 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 TCACCTGCTTCAAGGCTGCCT 0.512000 43 116 0 0 0.000781405 0 0 GALNT14 79623 broad.mit.edu 37 2 31147628 31147628 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:31147628C>T ENST00000349752.5 - 12 1852 c.1213G>A c.(1213-1215)Gag>Aag p.E405K GALNT14_ENST00000406653.1_Missense_Mutation_p.E385K|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.E370K|GALNT14_ENST00000356174.3_Missense_Mutation_p.E372K|GALNT14_ENST00000324589.5_Missense_Mutation_p.E410K NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 405 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) TAGATATTCTCCAGGTACCAC 0.532000 11 38 0 0 0.000308642 0 0 FAM131C 348487 broad.mit.edu 37 1 16386022 16386022 + Missense_Mutation SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:16386022C>G ENST00000375662.4 - 6 712 c.529G>C c.(529-531)Gag>Cag p.E177Q FAM131C_ENST00000494078.1_5'UTR NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C 177 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GGGCTGTTCTCGGGGTGCAGC 0.652000 5 14 0 0 0.000274275 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830919 43830919 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:43830919G>A ENST00000372458.3 - 3 292 c.175C>T c.(175-177)Cgt>Tgt p.R59C ELOVL1_ENST00000413844.2_Missense_Mutation_p.R59C|ELOVL1_ENST00000470769.1_5'UTR NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 59 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGAAGCCACGGAGCTGGAAG 0.542000 28 32 0 0 0.001512 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830536 7830536 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:7830536C>T ENST00000327325.5 + 4 345 c.227C>T c.(226-228)cCc>cTc p.P76L CLEC4M_ENST00000359059.5_Missense_Mutation_p.P55L|CLEC4M_ENST00000597522.1_Missense_Mutation_p.P76L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P55L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P48L|CLEC4M_ENST00000596363.1_Missense_Mutation_p.P48L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P64L|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P76L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P55L|CLEC4M_ENST00000357361.2_Missense_Mutation_p.P76L NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 76 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 TCCAAGGTCCCCAGCTCCCTA 0.498000 16 67 0 0 0.000958276 0 0 ABCC9 10060 broad.mit.edu 37 12 21998642 21998642 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21998642C>T ENST00000261200.4 - 24 2990 c.2991G>A c.(2989-2991)atG>atA p.M997I RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.M961I|ABCC9_ENST00000261201.4_Missense_Mutation_p.M997I NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 997 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) TAGAGAAAATCATCAGGATGA 0.438000 19 27 0 0 0.00152264 0 0 TRPC4 7223 broad.mit.edu 37 13 38211422 38211422 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:38211422C>T ENST00000379705.3 - 11 3409 c.2552G>A c.(2551-2553)cGa>cAa p.R851Q TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.R678Q|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.R856Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.R678Q|TRPC4_ENST00000379673.2_Intron Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 851 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGTTTTGATCGTCTATGAAA 0.438000 17 33 0 0 0.00074312 0 0 CARS 833 broad.mit.edu 37 11 3047965 3047965 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:3047965G>A ENST00000397114.3 - 10 1191 c.815C>T c.(814-816)tCc>tTc p.S272F CARS_ENST00000278224.9_Missense_Mutation_p.S282F|CARS_ENST00000401769.3_Missense_Mutation_p.S295F|CARS_ENST00000397111.5_Missense_Mutation_p.S282F|CARS_ENST00000380525.4_Missense_Mutation_p.S365F P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 282 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTTCCCATAGGAGTGCTTCTC 0.522000 T ALK ALCL 23 62 0 0 0.00047179 0 0 RGPD3 653489 broad.mit.edu 37 2 107041046 107041046 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:107041046G>A ENST00000409886.3 - 20 3464 c.3377C>T c.(3376-3378)tCa>tTa p.S1126L RGPD3_ENST00000304514.7_Missense_Mutation_p.S1126L NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1126 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TGCTCTATCTGATCCAGAGAG 0.428000 53 125 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9063888 9063888 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9063888G>A ENST00000397910.4 - 3 23761 c.23558C>T c.(23557-23559)tCt>tTt p.S7853F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7855 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 GGGCACTTTAGAGAGGACAGT 0.547000 11 29 0 0 0.000673444 0 0 ABCA12 26154 broad.mit.edu 37 2 215890416 215890416 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:215890416G>A ENST00000272895.7 - 11 1487 c.1268C>T c.(1267-1269)cCt>cTt p.P423L ABCA12_ENST00000389661.4_Missense_Mutation_p.P105L|AC072062.3_ENST00000437897.3_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 423 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) TAGGACTTCAGGAACTGGAGG 0.299000 25 51 0 0 0.00127121 0 0 ACTN2 88 broad.mit.edu 37 1 236912487 236912487 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:236912487C>T ENST00000366578.4 + 14 1745 c.1579C>T c.(1579-1581)Cct>Tct p.P527S ACTN2_ENST00000542672.1_Missense_Mutation_p.P527S|ACTN2_ENST00000546208.1_Missense_Mutation_p.P21S NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 527 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GAGGGCTGCTCCTTTCAACAA 0.433000 23 61 0 0 0.00278032 0 0 COL4A5 1287 broad.mit.edu 37 X 107865086 107865086 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:107865086G>A ENST00000328300.6 + 32 2975 c.2731G>A c.(2731-2733)Gga>Aga p.G911R COL4A5_ENST00000361603.2_Missense_Mutation_p.G911R NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 911 Triple-helical region. G -> E (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGACCTTTGGGAATTCCTGG 0.428000 Alport syndrome with Diffuse Leiomyomatosis 22 10 0 0 0.00188189 0 0 CCDC87 55231 broad.mit.edu 37 11 66359695 66359695 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:66359695G>A ENST00000333861.3 - 1 859 c.792C>T c.(790-792)ttC>ttT p.F264F NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 264 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCCAGTGGAAAGGCTTTT 0.532000 16 19 0 0 0.000422831 0 0 MAPT 4137 broad.mit.edu 37 17 44039838 44039838 + Splice_Site SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:44039838T>C ENST00000344290.5 + 2 455 c.e2+2 MAPT_ENST00000446361.3_Splice_Site|MAPT_ENST00000347967.5_Splice_Site|MAPT_ENST00000334239.8_Splice_Site|MAPT_ENST00000535772.1_Splice_Site|MAPT_ENST00000431008.3_Splice_Site|MAPT_ENST00000420682.2_Splice_Site|MAPT_ENST00000415613.2_Splice_Site|MAPT_ENST00000571987.1_Splice_Site|MAPT_ENST00000262410.5_Splice_Site|MAPT_ENST00000351559.5_Splice_Site|MAPT_ENST00000570299.1_Splice_Site|MAPT_ENST00000574436.1_Splice_Site|MAPT_ENST00000340799.5_Splice_Site NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GCCTGAAAGGTTAGTGGACAG 0.527000 9 12 0 0 0.000274275 0 0 MS4A6A 64231 broad.mit.edu 37 11 59942973 59942973 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:59942973A>G ENST00000528851.1 - 5 591 c.451T>C c.(451-453)Ttg>Ctg p.L151L MS4A6A_ENST00000412309.2_Silent_p.L179L|MS4A6A_ENST00000323961.3_Silent_p.L151L|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000529054.1_Silent_p.L179L|MS4A6A_ENST00000426738.2_Silent_p.L106L|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000530839.1_Silent_p.L151L Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 151 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTTTGTCCAACTCACACTGC 0.438000 13 21 0 0 0.00185496 0 0 BLK 640 broad.mit.edu 37 8 11406606 11406606 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11406606C>T ENST00000259089.4 + 5 935 c.343C>T c.(343-345)Cga>Tga p.R115* BLK_ENST00000529894.1_Nonsense_Mutation_p.R44* NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 115 SH3. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CTTTGTGGCCCGAGTGGAGAG 0.577000 6 12 0 0 0.00198382 0 0 INO80 54617 broad.mit.edu 37 15 41276081 41276081 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:41276081G>A ENST00000361937.3 - 34 4540 c.4116C>T c.(4114-4116)ccC>ccT p.P1372P INO80_ENST00000401393.3_Silent_p.P1372P Q9ULG1 INO80_HUMAN INO80 complex subunit 1372 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCTCGTCCAGGGGAATGGAGC 0.572000 17 20 0 0 0.00152264 0 0 OR8K1 390157 broad.mit.edu 37 11 56113937 56113937 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56113937C>T ENST00000279783.2 + 1 517 c.423C>T c.(421-423)atC>atT p.I141I NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 141 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) ACGTGATCATCATGGCAGAGA 0.388000 HNSCC(65;0.19) 47 71 0 0 0.000680045 0 0 MEF2D 4209 broad.mit.edu 37 1 156437976 156437976 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156437976G>A ENST00000348159.4 - 11 1843 c.1363C>T c.(1363-1365)Cct>Tct p.P455S MEF2D_ENST00000360595.3_Missense_Mutation_p.P448S|MEF2D_ENST00000353795.3_Missense_Mutation_p.P409S|MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000340875.5_Missense_Mutation_p.P454S|MEF2D_ENST00000368240.2_Missense_Mutation_p.P448S NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 455 Poly-Pro. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACAGCTGGAGGGGGAGGCGCA 0.687000 9 20 0 0 0.000442599 0 0 GPN2 54707 broad.mit.edu 37 1 27216268 27216268 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27216268A>C ENST00000374135.4 - 1 520 c.320T>G c.(319-321)tTc>tGc p.F107C NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 107 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 GTCGAAGAGGAAGTAGTGGCC 0.662000 44 50 0 0 0.000781405 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36104692 36104692 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:36104692G>A ENST00000258840.6 - 32 4802 c.4412C>T c.(4411-4413)tCt>tTt p.S1471F RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1424F|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1424F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1437F Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1424 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATTGAGAACAGATTTTTCTGT 0.358000 11 11 0 0 0.000978159 0 0 GATA3-AS1 399717 broad.mit.edu 37 10 8093113 8093113 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:8093113G>A ENST00000355358.1 - 0 1513 NR_024256.1 TCGCCCCTGGGAGGGCGGGTG 0.627000 8 13 0 0 0.000442599 0 0 ASXL3 80816 broad.mit.edu 37 18 31323767 31323767 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:31323767G>A ENST00000269197.5 + 12 3955 c.3955G>A c.(3955-3957)Gat>Aat p.D1319N NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1319 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 AAGCTCCATGGATGATAAGCA 0.453000 60 127 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13769624C>T ENST00000265104.4 - 57 9810 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 50 99 0 0 0.000781405 0 0 PDZD2 23037 broad.mit.edu 37 5 32089406 32089406 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:32089406C>T ENST00000438447.1 + 20 6240 c.5852C>T c.(5851-5853)cCc>cTc p.P1951L PDZD2_ENST00000282493.3_Missense_Mutation_p.P1951L O15018 PDZD2_HUMAN PDZ domain containing 2 1951 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACAGCTGCCCCCAGGTCCCCC 0.577000 17 47 0 0 0.00074312 0 0 COBLL1 22837 broad.mit.edu 37 2 165551054 165551054 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:165551054G>A ENST00000375458.2 - 11 3069 c.2848C>T c.(2848-2850)Ccc>Tcc p.P950S COBLL1_ENST00000342193.4_Missense_Mutation_p.P988S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P1026S|COBLL1_ENST00000194871.6_Missense_Mutation_p.P1055S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P988S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 1026 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 GGAGCTATGGGAGGAGGGGAG 0.463000 12 37 0 0 0.00185496 0 0 ADGRG6 57211 broad.mit.edu 37 6 142737042 142737042 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:142737042G>A ENST00000230173.6 + 20 3255 c.2779G>A c.(2779-2781)Gat>Aat p.D927N GPR126_ENST00000367609.3_Missense_Mutation_p.D927N|GPR126_ENST00000296932.8_Missense_Mutation_p.D899N|GPR126_ENST00000367608.2_Missense_Mutation_p.D899N NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 927 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTTCAATGTGGATGGACTTTG 0.473000 57 120 0 0 0.000781405 0 0 CYP2C8 1558 broad.mit.edu 37 10 96826976 96826976 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:96826976C>T ENST00000371270.3 - 3 564 c.470G>A c.(469-471)aGa>aAa p.R157K CYP2C8_ENST00000539050.1_Missense_Mutation_p.R71K|CYP2C8_ENST00000535898.1_Missense_Mutation_p.R55K NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 157 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CTTGGTTTTTCTCAACTCCTC 0.517000 52 49 0 0 0.000781405 0 0 RNF144A 9781 broad.mit.edu 37 2 7154674 7154674 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:7154674C>T ENST00000320892.6 + 4 667 c.225C>T c.(223-225)caC>caT p.H75H RNF144A_ENST00000467276.1_Intron NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 75 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) AACAGGGCCACCTACAGGAGA 0.473000 21 44 0 0 0.00229938 0 0 CDKL5 6792 broad.mit.edu 37 X 18606210 18606210 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:18606210C>T ENST00000379989.3 + 10 976 c.691C>T c.(691-693)Cca>Tca p.P231S CDKL5_ENST00000379996.3_Missense_Mutation_p.P231S NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 231 Protein kinase. neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) AGGACCACTTCCATCTGAGCA 0.443000 122 54 0 0 0.000781405 0 0 C3orf67 200844 broad.mit.edu 37 3 58739519 58739519 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:58739519G>A ENST00000295966.7 - 15 2059 c.1556C>T c.(1555-1557)tCc>tTc p.S519F C3orf67_ENST00000482387.1_Missense_Mutation_p.S645F NM_198463.2 NP_940865.1 Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 511 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) ACTTTCACAGGAATCTGGACG 0.388000 25 39 0 0 0.00209593 0 0 UBASH3A 53347 broad.mit.edu 37 21 43829558 43829558 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43829558C>T ENST00000319294.6 + 3 226 c.195C>T c.(193-195)tcC>tcT p.S65S UBASH3A_ENST00000398367.1_Silent_p.S65S|UBASH3A_ENST00000450356.1_Silent_p.S65S|UBASH3A_ENST00000291535.6_Silent_p.S65S NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 65 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ATGACCCTTCCCTAGACGACC 0.527000 17 80 0 0 0.00121646 0 0 BAGE2 85319 broad.mit.edu 37 21 11047490 11047490 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:11047490C>T ENST00000470054.1 - 0 764 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) CTTTGCATTTCCAGCCGTTGG 0.358000 10 226 0 0 0.00136819 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87459344 87459344 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:87459344G>A ENST00000338056.3 + 12 1832 c.1421G>A c.(1420-1422)tGa>tAa p.*474* RUNDC3B_ENST00000394654.3_Silent_p.*457*|RUNDC3B_ENST00000493037.1_Silent_p.*408* NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 0 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) ACTCCATCCTGAAAATTTTTG 0.353000 15 45 0 0 0.000958276 0 0 ZNF714 148206 broad.mit.edu 37 19 21299951 21299951 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:21299951C>T ENST00000596143.1 + 5 806 c.481C>T c.(481-483)Caa>Taa p.Q161* ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ACACCTACATCAACATAAAAG 0.323000 16 53 0 0 0.000566183 0 0 FAM13A 10144 broad.mit.edu 37 4 89671049 89671049 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:89671049G>A ENST00000264344.5 - 16 2159 c.1952C>T c.(1951-1953)tCc>tTc p.S651F FAM13A_ENST00000503556.1_Missense_Mutation_p.S311F|FAM13A_ENST00000395002.2_Missense_Mutation_p.S325F|FAM13A_ENST00000513837.1_Missense_Mutation_p.S297F|FAM13A_ENST00000511976.1_Missense_Mutation_p.S237F|FAM13A_ENST00000508369.1_Missense_Mutation_p.S325F NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 651 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 CCCCAGAGAGGAGCTTCGCCG 0.547000 13 32 0 0 0.00185496 0 0 GORAB 92344 broad.mit.edu 37 1 170501292 170501292 + Translation_Start_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:170501292G>A ENST00000367763.3 + 1 23 c.3G>A c.(1-3)atG>atA p.M1I GORAB_ENST00000367762.1_Start_Codon_SNP_p.M1I|RP11-576I22.2_ENST00000456083.1_RNA NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 1 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 AAACCCGGATGAGCTGGGCAG 0.662000 9 21 0 0 0.000274275 0 0 MROH2B 133558 broad.mit.edu 37 5 41054925 41054925 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:41054925G>A ENST00000399564.4 - 11 1501 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GAAATGATGTGATCCCTCAAC 0.373000 29 61 0 0 0.0024448 0 0 COL6A3 1293 broad.mit.edu 37 2 238303736 238303736 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:238303736G>A ENST00000295550.4 - 3 655 c.203C>T c.(202-204)tCc>tTc p.S68F COL6A3_ENST00000347401.3_Missense_Mutation_p.S68F|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.S68F|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 68 Nonhelical region.|VWFA 1. 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) CACAGCTAAGGATTTTACAAC 0.403000 15 29 0 0 0.000308642 0 0 CHAT 1103 broad.mit.edu 37 10 50828588 50828588 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:50828588C>T ENST00000395562.2 + 5 850 c.381C>T c.(379-381)gcC>gcT p.A127A CHAT_ENST00000351556.3_Silent_p.A91A|CHAT_ENST00000337653.2_Silent_p.A209A|CHAT_ENST00000455728.2_Silent_p.A91A|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Silent_p.A91A|CHAT_ENST00000395559.2_Silent_p.A91A NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 209 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACCGCCTGGCCCTGCCTGTCA 0.602000 22 23 0 0 0.00152264 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35144265 35144265 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:35144265G>A ENST00000436258.1 - 0 1801 CCTGTCGAGAGCATATCAAGG 0.368000 18 30 0 0 0.00188189 0 0 AGBL1 123624 broad.mit.edu 37 15 87531227 87531227 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:87531227A>G ENST00000441037.2 + 23 3188 c.3093A>G c.(3091-3093)tcA>tcG p.S1031S AGBL1_ENST00000389298.3_Silent_p.S762S|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Silent_p.S1031S NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1031 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 gattaaaatcatccaatttcc 0.318000 197 78 0 0 0.000781405 0 0 C3 718 broad.mit.edu 37 19 6682022 6682022 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6682022C>T ENST00000245907.6 - 35 4372 c.4280G>A c.(4279-4281)aGa>aAa p.R1427K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1427 Properdin-binding. 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) GGAGATGTATCTGTCAACACC 0.552000 30 61 0 0 0.0024448 0 0 TRPC1 7220 broad.mit.edu 37 3 142523420 142523420 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:142523420G>A ENST00000273482.6 + 11 2391 c.2000G>A c.(1999-2001)tGg>tAg p.W667* TRPC1_ENST00000476941.1_Nonsense_Mutation_p.W701* NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 701 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 CTCAGTAAGTGGATTTGCTCT 0.373000 24 49 0 0 0.001512 0 0 ITPR2 3709 broad.mit.edu 37 12 26811014 26811014 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:26811014G>A ENST00000381340.3 - 17 2352 c.1936C>T c.(1936-1938)Cct>Tct p.P646S NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 646 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) TGAGTTACAGGGATAGCAGTG 0.338000 11 27 0 0 0.000978159 0 0 PBX1 5087 broad.mit.edu 37 1 164790786 164790786 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:164790786C>T ENST00000420696.2 + 8 1311 c.1123C>T c.(1123-1125)Cgc>Tgc p.R375C PBX1_ENST00000367897.1_Missense_Mutation_p.S337L|PBX1_ENST00000559240.1_Missense_Mutation_p.R284C|PBX1_ENST00000401534.1_Missense_Mutation_p.S337L|PBX1_ENST00000560641.1_Missense_Mutation_p.R270C|PBX1_ENST00000540236.1_Missense_Mutation_p.R375C|PBX1_ENST00000540246.1_Missense_Mutation_p.R270C NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 375 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GGATACCCTTCGCCATGTTAT 0.498000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 23 51 0 0 0.00127121 0 0 CCDC141 285025 broad.mit.edu 37 2 179732807 179732807 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179732807G>A ENST00000420890.2 - 16 2637 c.2520C>T c.(2518-2520)ctC>ctT p.L840L CCDC141_ENST00000295723.5_Silent_p.L265L NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 265 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCAGTCTGTGGAGATGGTCTA 0.512000 16 50 0 0 0.00121646 0 0 BLK 640 broad.mit.edu 37 8 11406605 11406605 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11406605C>T ENST00000259089.4 + 5 934 c.342C>T c.(340-342)gcC>gcT p.A114A BLK_ENST00000529894.1_Silent_p.A43A NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 114 SH3. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ACTTTGTGGCCCGAGTGGAGA 0.577000 5 12 0 0 0.00116845 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67174403 67174403 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:67174403C>T ENST00000312390.5 + 8 783 c.754C>T c.(754-756)Ctg>Ttg p.L252L TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000542590.1_Silent_p.L252L NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 252 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTGCTGTACCTGCCCGAGTG 0.677000 39 54 0 0 0.00285205 0 0 DCLK1 9201 broad.mit.edu 37 13 36410263 36410263 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:36410263C>T ENST00000255448.4 - 8 1347 c.1136G>A c.(1135-1137)gGc>gAc p.G379D DCLK1_ENST00000379893.1_Missense_Mutation_p.G72D|DCLK1_ENST00000360631.3_Missense_Mutation_p.G379D NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 379 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AATCTGGAAGCCTTCCTCCGA 0.353000 34 103 0 0 0.000953801 0 0 RETNLB 84666 broad.mit.edu 37 3 108476028 108476028 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:108476028C>T ENST00000295755.6 - 1 203 c.5G>A c.(4-6)gGg>gAg p.G2E NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 2 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AGAGGACGGCCCCATCCTGTA 0.522000 18 26 0 0 0.00152264 0 0 ACSF2 80221 broad.mit.edu 37 17 48551159 48551159 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:48551159G>A ENST00000427954.2 + 14 1727 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K ACSF2_ENST00000541920.1_Missense_Mutation_p.E377K|ACSF2_ENST00000300441.4_Missense_Mutation_p.E537K|ACSF2_ENST00000502667.1_Missense_Mutation_p.E524K|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000504392.1_Missense_Mutation_p.E494K Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 537 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GAAGGTGCAGGAAGTGCAGGT 0.532000 25 63 0 0 0.00106085 0 0 SHANK3 85358 broad.mit.edu 37 22 51160137 51160137 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:51160137C>T ENST00000414786.2 + 21 4061 c.3834C>T c.(3832-3834)tcC>tcT p.S1278S SHANK3_ENST00000262795.3_Silent_p.S1308S|SHANK3_ENST00000445220.2_Silent_p.S1294S F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1308 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) AGCTGTCGTCCAGCGATGAGG 0.672000 7 10 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179616439 179616439 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179616439G>A ENST00000360870.5 - 46 10910 c.10688C>T c.(10687-10689)tCc>tTc p.S3563F TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3558 Ig-like 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTAAGCTGGAAGAGTGATG 0.413000 47 60 0 0 0.000781405 0 0 SPATC1 375686 broad.mit.edu 37 8 145094817 145094817 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:145094817C>T ENST00000377470.3 + 2 321 c.219C>T c.(217-219)ttC>ttT p.F73F SPATC1_ENST00000447830.2_Silent_p.F73F NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 73 Necessary for targeting centrosomes (By similarity). 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) CAGGTGTCTTCCTGCCCCCGT 0.632000 15 44 0 0 0.000422831 0 0 NLRP9 338321 broad.mit.edu 37 19 56235485 56235485 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56235485C>T ENST00000332836.2 - 4 2047 c.2020G>A c.(2020-2022)Gat>Aat p.D674N NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 674 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AATTCTGAATCATGTCCAAAG 0.413000 12 20 0 0 0.00136819 0 0 ELTD1 64123 broad.mit.edu 37 1 79383582 79383582 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:79383582G>A ENST00000370742.3 - 11 1678 c.1615C>T c.(1615-1617)Cta>Tta p.L539L NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 539 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) GCTGGGCTTAGATAGCCAAAG 0.383000 106 109 0 0 0.000781405 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58187627 58187627 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58187627G>A ENST00000318203.5 + 3 811 c.114G>A c.(112-114)ggG>ggA p.G38G NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 38 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGAAGAAGGGATTTCTGAGT 0.383000 15 47 0 0 0.000422831 0 0 SLFN13 146857 broad.mit.edu 37 17 33772608 33772608 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:33772608C>T ENST00000285013.6 - 3 367 c.92G>A c.(91-93)aGa>aAa p.R31K SLFN13_ENST00000542635.1_Missense_Mutation_p.R31K|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.R31K|SLFN13_ENST00000526861.1_Missense_Mutation_p.R31K NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 31 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TAGCTTTTTTCTGTTTTCTTC 0.478000 44 59 0 0 0.00285205 0 0 MUC21 394263 broad.mit.edu 37 6 30955265 30955265 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:30955265C>T ENST00000376296.3 + 2 1554 c.1313C>T c.(1312-1314)tCt>tTt p.S438F MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 438 Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GCCACCAACTCTGGGTCCAGT 0.577000 15 70 0 0 0.000422831 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778985 31778985 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31778985G>A ENST00000375654.4 - 2 954 c.765C>T c.(763-765)atC>atT p.I255I HSPA1L_ENST00000417199.3_Silent_p.I255I NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 255 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 TGTTCTGGCTGATGTCCTTTT 0.587000 274 286 0 0 0.000781405 0 0 OR5M11 219487 broad.mit.edu 37 11 56310057 56310057 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56310057C>T ENST00000528616.2 - 1 700 c.677G>A c.(676-678)cGg>cAg p.R226Q NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TGATTTGATCCGGAGGATGGC 0.493000 25 21 0 0 0.000586117 0 0 KRT24 192666 broad.mit.edu 37 17 38859395 38859395 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:38859395C>T ENST00000264651.2 - 1 607 c.551G>A c.(550-552)gGa>gAa p.G184E NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 184 Linker 1.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) TCCACCGTCTCCAGACCCAGG 0.438000 84 86 0 0 0.000781405 0 0 ATP2A1 487 broad.mit.edu 37 16 28912174 28912174 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28912174G>A ENST00000395503.4 + 15 2221 c.2037G>A c.(2035-2037)gtG>gtA p.V679V ATP2A1_ENST00000357084.3_Silent_p.V679V|ATP2A1_ENST00000536376.1_Silent_p.V554V NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 679 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TCGCCCGTGTGGAGCCCTCGC 0.637000 24 38 0 0 0.00127121 0 0 TLE4 7091 broad.mit.edu 37 9 82322050 82322050 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:82322050G>A ENST00000376520.4 + 12 1777 c.949G>A c.(949-951)Ggg>Agg p.G317R TLE4_ENST00000376552.2_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.G317R|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Intron O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GAGGGATATGGGGAAATTGAG 0.368000 80 99 0 0 0.000781405 0 0 SCAND3 114821 broad.mit.edu 37 6 28543043 28543043 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:28543043C>T ENST00000452236.2 - 3 2056 c.1439G>A c.(1438-1440)cGa>cAa p.R480Q NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 480 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 AATCCTCTTTCGGATATCCTC 0.428000 27 94 0 0 0.000878237 0 0 KMT2E 55904 broad.mit.edu 37 7 104722179 104722179 + Nonsense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:104722179T>A ENST00000334877.4 + 13 1827 c.1293T>A c.(1291-1293)taT>taA p.Y431* KMT2E_ENST00000311117.3_Nonsense_Mutation_p.Y431*|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.Y431*|KMT2E_ENST00000476671.1_Nonsense_Mutation_p.Y431* lysine (K)-specific methyltransferase 2E TTTATATTTATTCTATACACA 0.303000 45 93 0 0 0.000781405 0 0 DENND6A 201627 broad.mit.edu 37 3 57649398 57649398 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:57649398G>A ENST00000311128.5 - 5 548 c.478C>T c.(478-480)Cga>Tga p.R160* NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A GTTTTATCTCGAACTTGTCGG 0.308000 21 66 0 0 0.00127121 0 0 CSMD3 114788 broad.mit.edu 37 8 114111130 114111130 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:114111130G>A ENST00000297405.5 - 5 1016 c.772C>T c.(772-774)Cct>Tct p.P258S CSMD3_ENST00000343508.3_Missense_Mutation_p.P218S|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.P258S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P258S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 258 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACTCATTAGGAAAACTAGGG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 35 0 0 0.00074312 0 0 TP63 8626 broad.mit.edu 37 3 189604206 189604206 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:189604206C>T ENST00000264731.3 + 11 1462 c.1373C>T c.(1372-1374)tCa>tTa p.S458L TP63_ENST00000392463.2_Missense_Mutation_p.S364L|TP63_ENST00000456148.1_Missense_Mutation_p.S360L|TP63_ENST00000320472.5_Missense_Mutation_p.S458L|TP63_ENST00000449992.1_Missense_Mutation_p.S279L|TP63_ENST00000392461.3_Missense_Mutation_p.S364L|TP63_ENST00000354600.5_Missense_Mutation_p.S364L|TP63_ENST00000382063.4_Missense_Mutation_p.S373L|TP63_ENST00000392460.3_Missense_Mutation_p.S458L|TP63_ENST00000440651.2_Missense_Mutation_p.S454L NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 458 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) TCTCCATCTTCATATGGTAAC 0.473000 HNSCC(45;0.13) 18 51 0 0 0.00047179 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49965880 49965880 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:49965880G>A ENST00000293350.4 + 8 1129 c.966G>A c.(964-966)cgG>cgA p.R322R ALDH16A1_ENST00000433981.2_Silent_p.R157R|ALDH16A1_ENST00000540132.1_Silent_p.R159R|ALDH16A1_ENST00000455361.2_Silent_p.R271R NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 322 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCATGAGACGGCTGCAGGAGC 0.652000 27 59 0 0 0.00178596 0 0 FAT4 79633 broad.mit.edu 37 4 126241933 126241933 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126241933C>T ENST00000394329.3 + 1 4380 c.4367C>T c.(4366-4368)tCc>tTc p.S1456F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1456 Cadherin 14. 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 GGTCAACTATCCTACACAATC 0.393000 25 58 0 0 0.000878237 0 0 IARS2 55699 broad.mit.edu 37 1 220312353 220312353 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:220312353A>G ENST00000366922.1 + 18 2294 c.1963A>G c.(1963-1965)Agg>Ggg p.R655G IARS2_ENST00000302637.5_Missense_Mutation_p.R727G Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 727 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGAATAGCTTAGGAATACACT 0.333000 29 41 0 0 0.000814825 0 0 TRIM50 135892 broad.mit.edu 37 7 72732989 72732989 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72732989C>T ENST00000333149.2 - 4 758 c.558G>A c.(556-558)gtG>gtA p.V186V TRIM50_ENST00000453152.1_Silent_p.V186V NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 186 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 TCTCCTCATCCACCAGGTGGT 0.662000 24 66 0 0 0.001512 0 0 KCNAB1 7881 broad.mit.edu 37 3 156249266 156249266 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:156249266G>A ENST00000302490.8 + 13 1967 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.E337K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.E384K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E373K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E355K NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 384 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACAACTCATTGAAAACCTTGG 0.512000 32 73 0 0 0.00058488 0 0 DNAH8 1769 broad.mit.edu 37 6 38862525 38862525 + Nonsense_Mutation SNP C C T rs149070832 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38862525C>T ENST00000359357.3 + 57 8235 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2625*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2878* 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 CTTCAATCTTCGAGATCTTTC 0.393000 16 36 0 0 0.000566183 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6984794 6984794 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6984794C>T ENST00000600751.1 - 0 321 NR_024075.1 ATGTAACCTCCAACTTTATTC 0.353000 10 17 0 0 0.000673444 0 0 NPAS1 4861 broad.mit.edu 37 19 47535945 47535945 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:47535945C>T ENST00000602212.1 + 5 697 c.477C>T c.(475-477)ttC>ttT p.F159F NPAS1_ENST00000449844.2_Silent_p.F159F|NPAS1_ENST00000602189.1_5'UTR Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 159 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) AAGGAAAATTCCTCTACATCT 0.577000 OREG0025585 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 46 0 0 0.00278032 0 0 SELP 6403 broad.mit.edu 37 1 169582930 169582930 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:169582930G>A ENST00000263686.6 - 4 520 c.481_splice c.e4-1 p.A161_splice SELP_ENST00000367791.2_Splice_Site_p.A161_splice|SELP_ENST00000367792.2_Splice_Site_p.A161_splice|SELP_ENST00000367786.2_Splice_Site_p.A161_splice|SELP_ENST00000367788.2_Splice_Site_p.A161_splice|SELP_ENST00000458599.2_Splice_Site_p.A161_splice|SELP_ENST00000367794.2_Splice_Site_p.A161_splice|SELP_ENST00000367793.2_Splice_Site_p.A161_splice NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 161 EGF-like. 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) CCTGGCAGGAGGCTGCATAGA 0.507000 19 25 0 0 0.000958276 0 0 OBSCN 84033 broad.mit.edu 37 1 228487623 228487623 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:228487623G>A ENST00000570156.2 + 51 13589 c.13515G>A c.(13513-13515)aaG>aaA p.K4505K OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.K1195K|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3548 Ig-like 46. 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) GAAACCAGAAGGCCACAGAAG 0.522000 26 58 0 0 0.000878237 0 0 VCL 7414 broad.mit.edu 37 10 75854043 75854043 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:75854043C>T ENST00000211998.4 + 11 1461 c.1367C>T c.(1366-1368)tCt>tTt p.S456F VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.S456F NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 456 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) AAAGGAGATTCTCCAGAGGCT 0.512000 18 17 0 0 0.00278032 0 0 ERICH1 157697 broad.mit.edu 37 8 614675 614675 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:614675G>A ENST00000262109.7 - 6 1337 c.1258_splice c.e6-1 p.D420_splice ERICH1_ENST00000522706.1_Intron NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 420 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CTCTGGCATGGTCTAGAAAGC 0.348000 25 77 0 0 0.000878237 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976780 47976780 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47976780C>T ENST00000543600.1 - 2 485 c.446G>A c.(445-447)cGg>cAg p.R149Q PTCHD4_ENST00000339488.4_Missense_Mutation_p.R166Q Q6ZW05 CF138_HUMAN patched domain containing 4 166 integral to membrane hedgehog receptor activity TGACTTGACCCGCTGATCTTT 0.493000 7 23 0 0 0.00198382 0 0 STXBP5L 9515 broad.mit.edu 37 3 121097680 121097680 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:121097680G>A ENST00000273666.6 + 22 2637 c.2366G>A c.(2365-2367)cGa>cAa p.R789Q STXBP5L_ENST00000472879.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R765Q|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R789Q NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 789 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) CCACCATTTCGAAAGGCCCAG 0.398000 10 31 0 0 0.00136819 0 0 AXDND1 126859 broad.mit.edu 37 1 179398701 179398701 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179398701G>A ENST00000367618.3 + 13 1666 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K AXDND1_ENST00000457238.2_Missense_Mutation_p.E427K|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 427 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 TTACCTTAATGAAAAAGGCTG 0.318000 20 46 0 0 0.00278032 0 0 C2orf44 80304 broad.mit.edu 37 2 24261392 24261392 + Nonsense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:24261392T>A ENST00000295148.4 - 2 1030 c.973A>T c.(973-975)Aag>Tag p.K325* C2orf44_ENST00000406895.3_Nonsense_Mutation_p.K325* NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 325 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGCCTTCTTAAAGGTCACA 0.413000 T ALK NSCLC 18 41 0 0 0.00188189 0 0 TG 7038 broad.mit.edu 37 8 133919002 133919002 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133919002C>T ENST00000220616.4 + 17 3744 c.3704C>T c.(3703-3705)tCg>tTg p.S1235L TG_ENST00000377869.1_Missense_Mutation_p.S1235L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1235 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGACAATCTCGGGCCCCACA 0.622000 12 35 0 0 0.00244969 0 0 RBM19 9904 broad.mit.edu 37 12 114261086 114261086 + Silent SNP G G A rs140794490 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:114261086G>A ENST00000545145.2 - 24 2904 c.2826C>T c.(2824-2826)atC>atT p.I942I RBM19_ENST00000392561.3_Silent_p.I942I|RBM19_ENST00000261741.5_Silent_p.I942I NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 942 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCTGCTCCAGGATCTCGTCCA 0.632000 11 31 0 0 0.000978159 0 0 PIF1 80119 broad.mit.edu 37 15 65114806 65114806 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:65114806C>T ENST00000268043.4 - 3 656 c.562G>A c.(562-564)Gcc>Acc p.A188T PIF1_ENST00000333425.6_Missense_Mutation_p.A188T|PIF1_ENST00000559239.1_Missense_Mutation_p.A188T Q9H611 PIF1_HUMAN PIF1 5'-to-3' DNA helicase 188 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 CACCTTGGGGCTTCCTGGGGG 0.617000 13 5 0 0 0.000308642 0 0 CACNA1C 775 broad.mit.edu 37 12 2714944 2714944 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:2714944C>T ENST00000399655.1 + 24 3413 c.3148C>T c.(3148-3150)Ctc>Ttc p.L1050F CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1050F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1075F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1050F|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L1070F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1070F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1050F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1050F 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 1070 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) CGGGGTCCAGCTCTTCAAGGT 0.547000 6 27 0 0 0.00116845 0 0 COLGALT2 23127 broad.mit.edu 37 1 183909790 183909790 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:183909790A>G ENST00000361927.4 - 11 1900 c.1529T>C c.(1528-1530)cTg>cCg p.L510P COLGALT2_ENST00000367520.3_Missense_Mutation_p.L247P|COLGALT2_ENST00000546159.1_Missense_Mutation_p.L510P|COLGALT2_ENST00000367521.1_Missense_Mutation_p.L118P|COLGALT2_ENST00000486375.1_5'UTR NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 GGCTCCAACCAGCTTCTGTGC 0.542000 29 66 0 0 0.00127121 0 0 OR13D1 286365 broad.mit.edu 37 9 107457211 107457211 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107457211G>A ENST00000318763.5 + 1 552 c.509G>A c.(508-510)gGa>gAa p.G170E NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 ATCATGAACGGAGTGCTGTAT 0.512000 38 77 0 0 0.00111076 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119222389 119222389 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:119222389A>T ENST00000494664.1 + 3 573 c.371A>T c.(370-372)cAt>cTt p.H124L TIMMDC1_ENST00000493694.1_Intron NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 124 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 CAATCTGCACATCGTGCTGCC 0.408000 7 15 0 0 0.00198382 0 0 ESYT3 83850 broad.mit.edu 37 3 138192384 138192384 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:138192384G>A ENST00000389567.4 + 19 2430 c.2244G>A c.(2242-2244)ggG>ggA p.G748G ESYT3_ENST00000460133.1_3'UTR NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 748 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ACAGAGGTGGGGACCTCAGGC 0.562000 72 194 0 0 0.000781405 0 0 TMEM255B 348013 broad.mit.edu 37 13 114498161 114498161 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:114498161C>T ENST00000375353.3 + 4 320 c.293C>T c.(292-294)gCc>gTc p.A98V NM_182614.2 NP_872420.1 transmembrane protein 255B GGCGTGGTGGCCGCCTTCTGC 0.547000 22 21 0 0 0.000720815 0 0 ANXA9 8416 broad.mit.edu 37 1 150957108 150957108 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:150957108G>A ENST00000368947.4 + 7 904 c.428G>A c.(427-429)cGa>cAa p.R143Q NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 143 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTGCCACTCGAACCCCACCC 0.542000 15 25 0 0 0.000308642 0 0 PRKCQ 5588 broad.mit.edu 37 10 6483980 6483980 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:6483980C>T ENST00000263125.5 - 16 1810 c.1711G>A c.(1711-1713)Gaa>Aaa p.E571K PRKCQ_ENST00000397176.2_Intron|PRKCQ_ENST00000539722.1_Missense_Mutation_p.E446K NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 571 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 ATCAGCATTTCATAAAGGAGA 0.512000 12 46 0 0 0.00185496 0 0 BCAN 63827 broad.mit.edu 37 1 156617346 156617346 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:156617346C>T ENST00000329117.4 + 4 849 c.513C>T c.(511-513)tcC>tcT p.S171S RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S171S NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 171 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATGCTTTCTCCTTTTCTGGGG 0.642000 7 20 0 0 0.000157383 0 0 AKR1B10 57016 broad.mit.edu 37 7 134215542 134215542 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:134215542G>A ENST00000359579.4 + 2 534 c.214G>A c.(214-216)Gac>Aac p.D72N AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 72 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 GAAGCGGGAGGACCTGTTCAT 0.517000 26 69 0 0 0.00127121 0 0 IL6ST 3572 broad.mit.edu 37 5 55265424 55265424 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:55265424G>A ENST00000381298.2 - 4 636 c.324C>T c.(322-324)ttC>ttT p.F108F IL6ST_ENST00000381287.4_Silent_p.F108F|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000502326.3_Silent_p.F108F|IL6ST_ENST00000522633.2_Silent_p.F108F|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000336909.5_Silent_p.F108F|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Silent_p.F108F|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Silent_p.F108F NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 108 Ig-like C2-type. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) CAAGCTGTCCGAATGTAAGAA 0.338000 O hepatocellular ca 15 31 0 0 0.000422831 0 0 A2M 2 broad.mit.edu 37 12 9262611 9262611 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9262611G>A ENST00000318602.7 - 6 832 c.525C>T c.(523-525)atC>atT p.I175I NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 175 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding p.I175I(1) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GCCATTGTGCGATGCGATTTC 0.433000 49 97 0 0 0.000781405 0 0 COL5A1 1289 broad.mit.edu 37 9 137717651 137717651 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:137717651C>T ENST00000371817.3 + 63 5382 c.4968C>T c.(4966-4968)gtC>gtT p.V1656V NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1656 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AATACTGGGTCGATCCTAACC 0.557000 28 20 0 0 0.00127121 0 0 STAB2 55576 broad.mit.edu 37 12 104084258 104084258 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:104084258C>T ENST00000388887.2 + 30 3443 c.3239C>T c.(3238-3240)tCt>tTt p.S1080F NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1080 FAS1 3. 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 CTGTCTTCTTCTGACATGTTG 0.418000 34 52 0 0 0.00195071 0 0 HCN1 348980 broad.mit.edu 37 5 45396681 45396681 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:45396681G>A ENST00000303230.4 - 4 1200 c.1143C>T c.(1141-1143)gtC>gtT p.V381V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 381 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 AGGTGGCCCCGACGATCATGC 0.507000 18 35 0 0 0.000958276 0 0 FANCC 2176 broad.mit.edu 37 9 97873870 97873870 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:97873870C>T ENST00000289081.3 - 13 1458 c.1204G>A c.(1204-1206)Gga>Aga p.G402R FANCC_ENST00000375305.1_Missense_Mutation_p.G402R NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 402 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) TCAGCCCATCCTCCGAAGTGA 0.567000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 27 77 0 0 0.00209593 0 0 SPRY3 10251 broad.mit.edu 37 X 155004345 155004345 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:155004345G>A ENST00000302805.2 + 2 1243 c.812G>A c.(811-813)aGa>aAa p.R271K NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 271 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTGTGTGCAGAAAGATCTCT 0.562000 41 87 0 0 0.00128727 0 0 GPALPP1 55425 broad.mit.edu 37 13 45582997 45582997 + Translation_Start_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:45582997G>A ENST00000357537.3 + 0 302 RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000361121.2_Missense_Mutation_p.D131N|KIAA1704_ENST00000379151.4_Missense_Mutation_p.D131N Q8IXQ4 K1704_HUMAN breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) CAAGGGCAGAGATGATCCAGG 0.363000 11 29 0 0 0.000308642 0 0 LEP 3952 broad.mit.edu 37 7 127894690 127894690 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:127894690G>A ENST00000308868.4 + 3 429 c.378G>A c.(376-378)gaG>gaA p.E126E NM_000230.2 NP_000221.1 P41159 LEP_HUMAN leptin 126 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 GTGGCCTGGAGACCTTGGACA 0.607000 9 37 0 0 0.000274275 0 0 TCTN2 79867 broad.mit.edu 37 12 124192218 124192218 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:124192218C>T ENST00000303372.5 + 18 2180 c.2052C>T c.(2050-2052)ttC>ttT p.F684F RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Silent_p.F683F NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 684 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TGGCCTTGTTCCTCAGCAACC 0.448000 42 76 0 0 0.000781405 0 0 GRM3 2913 broad.mit.edu 37 7 86469060 86469060 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86469060G>A ENST00000361669.2 + 4 3329 c.2230G>A c.(2230-2232)Gat>Aat p.D744N GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D616N|GRM3_ENST00000546348.1_Missense_Mutation_p.D336N NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 744 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TCTTACCTACGATGTGATCCT 0.463000 16 35 0 0 0.000422831 0 0 OR3A2 4995 broad.mit.edu 37 17 3181445 3181445 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:3181445C>T ENST00000408891.2 - 1 823 c.785G>A c.(784-786)gGa>gAa p.G262E NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 262 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GATACCTCTTCCAAAGAAAAG 0.502000 19 24 0 0 0.00152264 0 0 TLR4 7099 broad.mit.edu 37 9 120470925 120470925 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:120470925G>A ENST00000355622.6 + 2 279 c.178G>A c.(178-180)Gac>Aac p.D60N TLR4_ENST00000394487.4_Missense_Mutation_p.D20N|TLR4_ENST00000472304.1_Intron NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 60 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 CAAGAACCTGGACCTGAGCTT 0.433000 99 86 0 0 0.000781405 0 0 IYD 389434 broad.mit.edu 37 6 150713596 150713596 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:150713596G>A ENST00000344419.3 + 3 626 c.486G>A c.(484-486)atG>atA p.M162I IYD_ENST00000229447.5_Missense_Mutation_p.M162I|IYD_ENST00000392256.2_Missense_Mutation_p.M162I|IYD_ENST00000425615.3_Missense_Mutation_p.M107I|IYD_ENST00000392255.3_Missense_Mutation_p.M162I|IYD_ENST00000500320.3_Missense_Mutation_p.M162I NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 162 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TCAACTACATGAAAAGGATGG 0.488000 12 30 0 0 0.00185496 0 0 TTN 7273 broad.mit.edu 37 2 179596691 179596691 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179596691A>G ENST00000589042.1 - 58 17135 c.16911T>C c.(16909-16911)ccT>ccC p.P5637P TTN_ENST00000591111.1_Silent_p.P5320P|TTN_ENST00000342992.6_Silent_p.P4393P|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5320 Ig-like 37. 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) TGGTAAAATAAGGTGACTCTA 0.443000 17 56 0 0 0.00121646 0 0 DLK1 8788 broad.mit.edu 37 14 101200607 101200607 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:101200607C>T ENST00000341267.4 + 5 768 c.526C>T c.(526-528)Ccc>Tcc p.P176S DLK1_ENST00000331224.6_Missense_Mutation_p.P176S NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 176 EGF-like 5. 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) CAGCTGCACCCCCAACCCATG 0.662000 21 18 0 0 0.00152264 0 0 SPAG17 200162 broad.mit.edu 37 1 118570916 118570916 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:118570916G>A ENST00000336338.5 - 26 3776 c.3711C>T c.(3709-3711)ttC>ttT p.F1237F NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1237 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTTGTCCAATGAAAGTCAACA 0.448000 38 117 0 0 0.00170553 0 0 MORC1 27136 broad.mit.edu 37 3 108703568 108703568 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:108703568C>T ENST00000232603.5 - 23 2401 c.2319G>A c.(2317-2319)tgG>tgA p.W773* MORC1_ENST00000483760.1_Nonsense_Mutation_p.W752* NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 773 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 CTCACCTTTTCCAGCTAGGTA 0.333000 7 27 0 0 0.00198382 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77529033 77529033 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:77529033G>A ENST00000373304.3 - 3 503 c.211C>T c.(211-213)Ctt>Ttt p.L71F NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 71 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CACACACAAAGTAGATCTGCT 0.433000 12 11 0 0 0.00185496 0 0 CAPSL 133690 broad.mit.edu 37 5 35910057 35910057 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:35910057G>A ENST00000397367.2 - 4 562 c.436C>T c.(436-438)Cca>Tca p.P146S CAPSL_ENST00000397366.1_Missense_Mutation_p.P146S|CAPSL_ENST00000514524.1_Missense_Mutation_p.P146S NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 146 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TGGTACTTTGGGTGGTGTTTT 0.368000 41 108 0 0 0.000680045 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110376775 110376775 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110376775G>A ENST00000378402.5 + 2 177 c.e2-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATATTTTTCAGATGGCTCTCA 0.348000 HNSCC(38;0.096) 9 18 0 0 0.000442599 0 0 XIRP2 129446 broad.mit.edu 37 2 168104261 168104261 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168104261C>T ENST00000409195.1 + 9 6448 c.6359C>T c.(6358-6360)aCc>aTc p.T2120I XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2120I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1898I NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1945 Pro-rich. 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 GCTGGTAAAACCGTTGGAAAG 0.353000 9 37 0 0 0.000442599 0 0 TMCO4 255104 broad.mit.edu 37 1 20021023 20021023 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:20021023G>A ENST00000294543.6 - 15 1645 c.1404C>T c.(1402-1404)ttC>ttT p.F468F TMCO4_ENST00000375122.2_Silent_p.F428F|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Silent_p.F468F NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 468 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) TGCGGTACACGAAACTCAGCA 0.632000 16 32 0 0 0.00121646 0 0 ANKK1 255239 broad.mit.edu 37 11 113270613 113270613 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:113270613T>A ENST00000303941.3 + 8 2016 c.1922T>A c.(1921-1923)gTg>gAg p.V641E NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 641 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GAGGAGGCGGTGGTGTCAGCA 0.627000 6 11 0 0 0.00116845 0 0 KPRP 448834 broad.mit.edu 37 1 152733053 152733053 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152733053C>T ENST00000368773.1 + 2 1047 c.989C>T c.(988-990)tCc>tTc p.S330F KPRP_ENST00000606109.1_Missense_Mutation_p.S330F NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 330 Pro-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) ATCGAGATTTCCTCCCCGTGC 0.632000 5 29 0 0 0.000602214 0 0 ITIH5 80760 broad.mit.edu 37 10 7608105 7608105 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:7608105G>A ENST00000256861.6 - 13 2493 c.2415C>T c.(2413-2415)gcC>gcT p.A805A ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.A591A|ITIH5_ENST00000446830.2_Silent_p.A587A NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 805 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GGATGACAAAGGCTATGGAGC 0.602000 10 30 0 0 0.000673444 0 0 TRHR 7201 broad.mit.edu 37 8 110100443 110100443 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110100443G>A ENST00000518632.1 + 2 1053 c.702G>A c.(700-702)tgG>tgA p.W234* TRHR_ENST00000311762.2_Nonsense_Mutation_p.W234* P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 234 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) CTAAGACATGGAAAAATGATT 0.378000 11 30 0 0 0.000978159 0 0 MYOM2 9172 broad.mit.edu 37 8 2033405 2033405 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:2033405G>A ENST00000262113.4 + 14 1668 c.1527G>A c.(1525-1527)caG>caA p.Q509Q MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 509 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) GTGACGCCCAGGTTCCAGGGC 0.627000 5 30 0 0 0.00116845 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7806666 7806666 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:7806666G>A ENST00000443676.1 + 3 144 c.28G>A c.(28-30)Gaa>Aaa p.E10K ZNF705B_ENST00000400120.3_Missense_Mutation_p.E10K P0CI00 Z705L_HUMAN zinc finger protein 705B 10 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(2)|lung(2) 4 AGTGACTTTTGAAGATGTAGC 0.408000 41 75 0 0 0.000781405 0 0 AKNA 80709 broad.mit.edu 37 9 117143571 117143571 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:117143571G>A ENST00000307564.4 - 2 204 c.43C>T c.(43-45)Ctg>Ttg p.L15L AKNA_ENST00000312033.3_Silent_p.L15L|AKNA_ENST00000374088.3_Silent_p.L15L NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 15 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 CCCTTCCCCAGGCCAGGCTCA 0.632000 4 14 0 0 0.00024832 0 0 CLU 1191 broad.mit.edu 37 8 27462697 27462697 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:27462697G>A ENST00000316403.10 - 5 978 c.573C>T c.(571-573)ttC>ttT p.F191F CLU_ENST00000405140.3_Silent_p.F191F|CLU_ENST00000523500.1_Silent_p.F191F|CLU_ENST00000546343.1_Silent_p.F202F|CLU_ENST00000560366.1_Silent_p.F243F P10909 CLUS_HUMAN clusterin 191 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ACCTGTCCTGGAAGAGCTCGT 0.612000 6 23 0 0 0.000157383 0 0 KL 9365 broad.mit.edu 37 13 33635671 33635671 + Nonsense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:33635671G>T ENST00000380099.3 + 4 2463 c.2455G>T c.(2455-2457)Gaa>Taa p.E819* KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 819 Glycosyl hydrolase-1 2. 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) CTCAGAAAAAGAAGATCCAAT 0.428000 17 35 2.48551e-13 9.70265e-13 0.000566183 1 0 TBX15 6913 broad.mit.edu 37 1 119427676 119427676 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:119427676G>A ENST00000369429.3 - 8 1497 c.1488C>T c.(1486-1488)ttC>ttT p.F496F TBX15_ENST00000207157.3_Silent_p.F390F Q96SF7 TBX15_HUMAN T-box 15 496 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGCTGCCCCCGAACATGTGTG 0.552000 19 15 0 0 0.000958276 0 0 RAB3IP 117177 broad.mit.edu 37 12 70206777 70206777 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70206777C>T ENST00000550536.1 + 10 1769 c.1312C>T c.(1312-1314)Cga>Tga p.R438* RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.R129*|RAB3IP_ENST00000483530.2_Silent_p.F388F|AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.R63*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.R216*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.R422*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.R216*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.R216*|RAB3IP_ENST00000362025.5_Silent_p.F404F NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 438 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TACATACATTCGATACATTCA 0.333000 41 89 0 0 0.000781405 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719247 140719247 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140719247G>A ENST00000394576.2 + 1 709 c.709G>A c.(709-711)Gac>Aac p.D237N 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) GGATGCGAACGACAATGCGCC 0.587000 15 42 0 0 0.000422831 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321894 79321894 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:79321894G>A ENST00000428286.1 - 8 5419 c.4219C>T c.(4219-4221)Ccc>Tcc p.P1407S PRUNE2_ENST00000376718.3_Missense_Mutation_p.P1766S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1766 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AAAGTCCAGGGATCAGGGCTG 0.438000 16 46 0 0 0.000566183 0 0 PIK3CB 5291 broad.mit.edu 37 3 138384011 138384011 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:138384011G>A ENST00000477593.1 - 19 2612 c.2539C>T c.(2539-2541)Cgc>Tgc p.R847C PIK3CB_ENST00000544716.1_Missense_Mutation_p.R298C|PIK3CB_ENST00000289153.2_Missense_Mutation_p.R847C P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 847 PI3K/PI4K. 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 p.R847G(1) 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 AGGCCAGAGCGATCTCCTGTT 0.418000 116 234 0 0 0.000781405 0 0 TPTE 7179 broad.mit.edu 37 21 10934955 10934955 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:10934955G>A ENST00000298232.7 - 14 1151 c.784C>T c.(784-786)Cga>Tga p.R262* TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R242*|TPTE_ENST00000361285.4_Nonsense_Mutation_p.R280* NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 280 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R262*(2) 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) TTGTAGACTCGATAGTGGTTT 0.333000 15 156 0 0 0.000958276 0 0 ZNF800 168850 broad.mit.edu 37 7 127013995 127013995 + Silent SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:127013995A>T ENST00000393313.1 - 5 1986 c.1395T>A c.(1393-1395)gcT>gcA p.A465A ZNF800_ENST00000265827.3_Silent_p.A465A|ZNF800_ENST00000393312.1_Silent_p.A465A Q2TB10 ZN800_HUMAN zinc finger protein 800 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GGCCACCTGCAGCCGACGGAC 0.388000 44 72 0 0 0.000781405 0 0 KCNIP1 30820 broad.mit.edu 37 5 169931626 169931626 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:169931626G>A ENST00000328939.4 + 1 587 c.50G>A c.(49-51)cGa>cAa p.R17Q KCNIP1_ENST00000390656.4_Missense_Mutation_p.R17Q|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000411494.1_Missense_Mutation_p.R17Q|KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000434108.1_Missense_Mutation_p.R17Q NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 17 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAACAAAGGCGACCCTCGAAA 0.632000 16 43 0 0 0.000422831 0 0 DDX43 55510 broad.mit.edu 37 6 74115448 74115448 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:74115448A>G ENST00000370336.4 + 6 855 c.697A>G c.(697-699)Aaa>Gaa p.K233E DDX43_ENST00000539829.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 233 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GGATGGGGAGAAACGACCTAT 0.393000 6 24 0 0 0.00198382 0 0 MYH1 4619 broad.mit.edu 37 17 10408571 10408571 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10408571C>T ENST00000226207.5 - 21 2438 c.2344G>A c.(2344-2346)Gat>Aat p.D782N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 782 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGCTTCTCATCTCGCATCTCC 0.458000 17 21 0 0 0.00074312 0 0 IGSF10 285313 broad.mit.edu 37 3 151155338 151155338 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151155338C>T ENST00000282466.3 - 6 7010 c.7011G>A c.(7009-7011)ccG>ccA p.P2337P IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2337 Ig-like C2-type 10. 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) TTCTAAATGTCGGTCTTCTCA 0.433000 24 73 0 0 0.000586117 0 0 MCTP1 79772 broad.mit.edu 37 5 94275892 94275892 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:94275892C>T ENST00000515393.1 - 5 1068 c.1069G>A c.(1069-1071)Gat>Aat p.D357N MCTP1_ENST00000429576.2_Missense_Mutation_p.D136N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D136N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D136N NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 357 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) AGGGTCACATCTGTGGGCCTG 0.333000 30 63 0 0 0.001512 0 0 CECR2 27443 broad.mit.edu 37 22 18028630 18028630 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:18028630C>T ENST00000262608.8 + 16 3590 c.3590C>T c.(3589-3591)cCc>cTc p.P1197L CECR2_ENST00000400585.2_Missense_Mutation_p.P1054L|CECR2_ENST00000400573.4_Missense_Mutation_p.P1196L NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 1238 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) CCTCTCCATCCCCAGGGAAGC 0.582000 11 27 0 0 0.000673444 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283782 151283782 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:151283782G>A ENST00000509345.2 - 0 554 TCCATAGAGTGAAATCGATGG 0.607000 27 18 0 0 0.000878237 0 0 TMC5 79838 broad.mit.edu 37 16 19460898 19460898 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:19460898C>T ENST00000396229.2 + 5 1742 c.993C>T c.(991-993)gtC>gtT p.V331V TMC5_ENST00000541464.1_Silent_p.V331V|TMC5_ENST00000381414.4_Silent_p.V331V|TMC5_ENST00000542583.2_Silent_p.V331V NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 331 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTGGTCCTGTCCATGCTTATG 0.478000 34 100 0 0 0.000814825 0 0 B3GNT4 79369 broad.mit.edu 37 12 122690865 122690865 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:122690865G>A ENST00000324189.4 + 3 423 c.66_splice c.e3-1 p.G23_splice B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_5'UTR|B3GNT4_ENST00000545141.1_Intron NM_030765.2 NP_110392.1 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 23 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CTCCTTGCAGGGACCGGCGAT 0.662000 11 23 0 0 0.00136819 0 0 MYH1 4619 broad.mit.edu 37 17 10402058 10402058 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10402058C>T ENST00000226207.5 - 30 4160 c.4066G>A c.(4066-4068)Gaa>Aaa p.E1356K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1356 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 GCCTTGGCTTCCTGCTCCTCC 0.567000 42 43 0 0 0.00285205 0 0 TSPYL6 388951 broad.mit.edu 37 2 54482885 54482885 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:54482885C>T ENST00000317802.7 - 1 524 c.404G>A c.(403-405)gGg>gAg p.G135E ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 135 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CTCCGACCTCCCTGCCCCACA 0.597000 20 33 0 0 0.00188189 0 0 ABCA13 154664 broad.mit.edu 37 7 48313737 48313737 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:48313737C>T ENST00000435803.1 + 17 4498 c.4474C>T c.(4474-4476)Ctt>Ttt p.L1492F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1492 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 TTTATTAGCTCTTTTAAATGA 0.289000 10 16 0 0 0.000673444 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16528960 16528960 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:16528960G>A ENST00000270747.3 - 13 2153 c.2017C>T c.(2017-2019)Ctc>Ttc p.L673F ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 673 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCGTGGAGGAGCTGGAGG 0.647000 4 11 0 0 0.00024832 0 0 AFF4 27125 broad.mit.edu 37 5 132227973 132227973 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:132227973G>A ENST00000265343.5 - 13 2899 c.2520C>T c.(2518-2520)tcC>tcT p.S840S AFF4_ENST00000378595.3_Silent_p.S840S NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 840 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGACTTTAAGGAAGAAGACT 0.463000 49 102 0 0 0.000781405 0 0 MAEL 84944 broad.mit.edu 37 1 166959042 166959042 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:166959042G>A ENST00000367872.4 + 2 445 c.201G>A c.(199-201)aaG>aaA p.K67K MAEL_ENST00000367870.2_Intron NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 67 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 CTCAGGGAAAGGACCCTGGGC 0.502000 11 37 0 0 0.00185496 0 0 OMA1 115209 broad.mit.edu 37 1 59002379 59002379 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:59002379T>A ENST00000371226.3 - 3 648 c.535A>T c.(535-537)Aac>Tac p.N179Y OMA1_ENST00000358603.2_Missense_Mutation_p.N179Y|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 179 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TCCTTCTTGTTAGGAGGAAGT 0.348000 30 105 0 0 0.000692331 0 0 ATP6V1C2 245973 broad.mit.edu 37 2 10912726 10912726 + Silent SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:10912726C>A ENST00000381661.3 + 8 737 c.628C>A c.(628-630)Cga>Aga p.R210R ATP6V1C2_ENST00000272238.4_Silent_p.R210R NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 210 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain p.R210R(2) 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) GGTGGTCCCTCGATCAACCAA 0.512000 6 212 0.00116845 0.0045107 0.00116845 1 0 SERPINB12 89777 broad.mit.edu 37 18 61234211 61234211 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61234211C>T ENST00000382768.1 + 7 1245 c.1245C>T c.(1243-1245)acC>acT p.T415T SERPINB12_ENST00000269491.1_Silent_p.T395T Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 395 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AAACCCAAACCATTCTCTTTT 0.453000 25 50 0 0 0.00106085 0 0 USHBP1 83878 broad.mit.edu 37 19 17370418 17370418 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:17370418C>T ENST00000252597.3 - 6 1065 c.892G>A c.(892-894)Gag>Aag p.E298K USHBP1_ENST00000431146.2_Missense_Mutation_p.E234K NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 298 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CGGAGTTGCTCCATCTGGGCT 0.567000 68 149 0 0 0.000781405 0 0 ZNF324B 388569 broad.mit.edu 37 19 58966498 58966498 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58966498G>A ENST00000391696.1 + 3 1089 c.157G>A c.(157-159)Ggt>Agt p.G53S ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron Q6AW86 Z324B_HUMAN zinc finger protein 324B 204 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGCCTGCCCTGGTCCTCTCCT 0.582000 8 28 0 0 0.000157383 0 0 OR7E24 26648 broad.mit.edu 37 19 9362289 9362289 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9362289G>A ENST00000456448.1 + 1 684 c.570G>A c.(568-570)gtG>gtA p.V190V NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCAAGGATGTGGACATTTCTA 0.403000 15 31 0 0 0.00244969 0 0 TUSC5 286753 broad.mit.edu 37 17 1183440 1183440 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:1183440G>A ENST00000333813.3 + 1 484 c.145G>A c.(145-147)Ggg>Agg p.G49R NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 49 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GACCCTCTCGGGGCCTCTGGA 0.637000 20 21 0 0 0.00229938 0 0 EVPL 2125 broad.mit.edu 37 17 74019640 74019640 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:74019640G>A ENST00000301607.3 - 3 547 c.294C>T c.(292-294)ttC>ttT p.F98F EVPL_ENST00000586740.1_Silent_p.F98F NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 98 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CCACGTCCAGGAAGAGGTCCT 0.662000 20 25 0 0 0.00188189 0 0 NOS1 4842 broad.mit.edu 37 12 117665347 117665347 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:117665347G>A ENST00000317775.6 - 23 4190 c.3505C>T c.(3505-3507)Ctg>Ttg p.L1169L NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.L1203L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1169 FAD-binding FR-type. 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) AGCTGGGTCAGGAGCAGGGTG 0.582000 28 60 0 0 0.00111076 0 0 PER3 8863 broad.mit.edu 37 1 7886711 7886711 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:7886711C>T ENST00000377532.3 + 16 2353 c.2129C>T c.(2128-2130)cCc>cTc p.P710L PER3_ENST00000361923.2_Missense_Mutation_p.P702L|RP3-467L1.4_ENST00000451646.1_RNA P56645 PER3_HUMAN period circadian clock 3 702 CSNK1E binding domain (By similarity). 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) CTGTCATCACCCTACAGCTCC 0.388000 9 17 0 0 0.000978159 0 0 KDR 3791 broad.mit.edu 37 4 55956220 55956220 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:55956220C>T ENST00000263923.4 - 23 3390 c.3095G>A c.(3094-3096)cGa>cAa p.R1032Q RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1032 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R1032Q(2) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGATATTTCGTGCCGCCAG 0.448000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 29 55 0 0 0.0024448 0 0 FAM214B 80256 broad.mit.edu 37 9 35107468 35107468 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:35107468G>A ENST00000378561.1 - 2 3859 c.804C>T c.(802-804)tcC>tcT p.S268S FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000378554.2_Silent_p.S268S|FAM214B_ENST00000378557.1_Silent_p.S268S|FAM214B_ENST00000603301.1_Silent_p.S268S|FAM214B_ENST00000322813.5_Silent_p.S268S|FAM214B_ENST00000605244.1_Silent_p.S268S|FAM214B_ENST00000488109.2_Silent_p.S268S Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 268 nucleus GGTGGCCCAGGGATCCCCGGC 0.637000 40 42 0 0 0.000680045 0 0 HMCN1 83872 broad.mit.edu 37 1 186008000 186008000 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:186008000C>T ENST00000271588.4 + 38 6120 c.5891C>T c.(5890-5892)tCc>tTc p.S1964F HMCN1_ENST00000367492.2_Missense_Mutation_p.S1964F NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1964 Ig-like C2-type 17. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CTCTCAGGTTCCACCAGCATG 0.363000 23 67 0 0 0.000878237 0 0 BNC2 54796 broad.mit.edu 37 9 16437449 16437449 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:16437449A>T ENST00000380672.4 - 6 800 c.743T>A c.(742-744)tTt>tAt p.F248Y BNC2_ENST00000380666.2_Missense_Mutation_p.F248Y|BNC2_ENST00000545497.1_Missense_Mutation_p.F153Y|BNC2_ENST00000380667.2_Missense_Mutation_p.F181Y NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AAACCGCAGAAACTGCTGAAG 0.502000 18 27 0 0 0.00074312 0 0 APOB 338 broad.mit.edu 37 2 21230775 21230775 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:21230775G>A ENST00000233242.1 - 26 9092 c.8965C>T c.(8965-8967)Caa>Taa p.Q2989* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2989 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) ACTTGTGATTGAATTTCAAGT 0.428000 173 353 0 0 0.000781405 0 0 LAMA3 3909 broad.mit.edu 37 18 21426417 21426417 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:21426417C>T ENST00000313654.9 + 31 4117 c.3876C>T c.(3874-3876)atC>atT p.I1292I LAMA3_ENST00000399516.3_Silent_p.I1292I NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1292 Domain III B.|Laminin EGF-like 9. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.I1292I(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAACGTCATCGGGCGGCAGT 0.657000 6 15 0 0 0.00198382 0 0 AADACL2 344752 broad.mit.edu 37 3 151475216 151475216 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:151475216G>A ENST00000356517.3 + 5 1149 c.1040G>A c.(1039-1041)gGa>gAa p.G347E RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 347 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGAGATGATGGACTTATGTAT 0.378000 26 61 0 0 0.00106085 0 0 XIRP2 129446 broad.mit.edu 37 2 168107053 168107053 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:168107053G>A ENST00000409195.1 + 9 9240 c.9151G>A c.(9151-9153)Gaa>Aaa p.E3051K XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3051K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2829K NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2876 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 TAGTCTTGATGAAACATCATC 0.353000 42 79 0 0 0.000781405 0 0 SSTR5 6755 broad.mit.edu 37 16 1129186 1129186 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:1129186C>T ENST00000293897.4 + 1 406 c.318C>T c.(316-318)ccC>ccT p.P106P SSTR5_ENST00000562758.1_Silent_p.P106P|SSTR5_ENST00000397547.2_Silent_p.P106P NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 106 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) CCTTCTGGCCCTTCGGCCCCG 0.627000 16 24 0 0 0.000958276 0 0 PRRT3 285368 broad.mit.edu 37 3 9991216 9991216 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:9991216C>T ENST00000412055.1 - 2 713 c.584G>A c.(583-585)aGg>aAg p.R195K PRRT3_ENST00000411976.2_Missense_Mutation_p.R195K|PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 195 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 GGGTGGGACCCTGCTCTTAGT 0.597000 14 18 0 0 0.000308642 0 0 FMN2 56776 broad.mit.edu 37 1 240492397 240492397 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:240492397G>A ENST00000319653.9 + 9 4467 c.4237G>A c.(4237-4239)Gaa>Aaa p.E1413K FMN2_ENST00000545751.1_Missense_Mutation_p.E9K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1413 FH2. 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) AGACGAACTCGAAAAAATAGA 0.378000 23 64 0 0 0.00229938 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390527 61390527 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:61390527G>A ENST00000544088.1 + 0 1135 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GCTGTAAAAAGCCTACCAATG 0.502000 22 42 0 0 0.00278032 0 0 STXBP4 252983 broad.mit.edu 37 17 53084923 53084923 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:53084923C>T ENST00000376352.2 + 8 838 c.631C>T c.(631-633)Ccc>Tcc p.P211S STXBP4_ENST00000405898.1_Missense_Mutation_p.P211S|STXBP4_ENST00000434978.2_Missense_Mutation_p.P211S|STXBP4_ENST00000398391.2_Missense_Mutation_p.P136S|STXBP4_ENST00000299341.4_Missense_Mutation_p.P136S NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 211 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 CTCCCTAAATCCCTCTGTTCG 0.368000 157 512 0 0 0.000781405 0 0 ANTXR1 84168 broad.mit.edu 37 2 69240670 69240670 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:69240670C>T ENST00000303714.4 + 1 361 c.39C>T c.(37-39)ttC>ttT p.F13F ANTXR1_ENST00000409829.3_Silent_p.F13F|ANTXR1_ENST00000409349.3_Silent_p.F13F NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 13 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 GCATCGGCTTCCAGTGGCTCT 0.692000 Familial Infantile Hemangioma 6 10 0 0 0.00198382 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233494 56233494 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:56233494G>A ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA CAAGACCCACGGACTCCTGGT 0.537000 5 11 0 0 0.000602214 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518733 113518733 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:113518733G>A ENST00000284601.3 - 4 2482 c.2414C>T c.(2413-2415)tCa>tTa p.S805L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 805 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACCTAAACGTGATTCCTTTTC 0.383000 18 36 0 0 0.000958276 0 0 C10orf118 55088 broad.mit.edu 37 10 115891749 115891749 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:115891749G>A ENST00000369287.3 - 11 2116 c.1850C>T c.(1849-1851)tCc>tTc p.S617F C10orf118_ENST00000543782.1_Missense_Mutation_p.S215F NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 617 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) TTCACTACAGGAAACTTTATC 0.333000 28 39 0 0 0.00178596 0 0 PTPRN2 5799 broad.mit.edu 37 7 157691392 157691392 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:157691392C>T ENST00000389413.3 - 11 1777 c.1674G>A c.(1672-1674)ctG>ctA p.L558L PTPRN2_ENST00000389416.4_Silent_p.L570L|PTPRN2_ENST00000389418.4_Silent_p.L587L|PTPRN2_ENST00000409483.1_Silent_p.L549L|PTPRN2_ENST00000404321.2_Silent_p.L610L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 587 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GAAGAATTTTCAGTCCAGAGG 0.522000 72 145 0 0 0.000781405 0 0 FABP9 646480 broad.mit.edu 37 8 82373741 82373741 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:82373741C>A ENST00000379071.2 - 1 73 c.18G>T c.(16-18)ttG>ttT p.L6F RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 6 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) TCCAGGTTCCCAAGAAGGGCT 0.403000 6 140 0.00198382 0.00762708 0.00198382 1 0 ATP1A2 477 broad.mit.edu 37 1 160105045 160105045 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:160105045C>T ENST00000361216.3 + 15 2164 c.2075C>T c.(2074-2076)cCc>cTc p.P692L ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.P692L NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 692 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) CGAACGTCTCCCCAGCAGAAG 0.597000 21 45 0 0 0.00047179 0 0 ORAI1 84876 broad.mit.edu 37 12 122079438 122079438 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:122079438G>A ENST00000330079.7 + 2 994 c.801G>A c.(799-801)aaG>aaA p.K267K NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 265 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) TTAGCCATAAGACTGACCGAC 0.622000 19 62 0 0 0.00152264 0 0 GSX2 170825 broad.mit.edu 37 4 54967785 54967785 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:54967785G>A ENST00000326902.2 + 2 925 c.611G>A c.(610-612)aGg>aAg p.R204K GSX2_ENST00000503800.1_Missense_Mutation_p.G134R|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 204 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) AATGGCAAGAGGATGAGGACG 0.587000 20 41 0 0 0.00229938 0 0 TSIX 9383 broad.mit.edu 37 X 73047456 73047456 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:73047456G>A ENST00000604411.1 + 0 35417 XIST_ENST00000429829.1_lincRNA NR_003255.2 TAAAACGAACGAGAAGGGGAA 0.398000 6 0 0 0 0.00116845 0 0 KMT2B 9757 broad.mit.edu 37 19 36218489 36218489 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:36218489C>T ENST00000222270.7 + 16 4268 c.4268C>T c.(4267-4269)tCc>tTc p.S1423F KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.S1423F NM_014727.1 NP_055542.1 CTGCTGAGCTCCAAGGTGGTG 0.741000 7 17 0 0 0.000157383 0 0 OR14C36 127066 broad.mit.edu 37 1 248512472 248512472 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248512472G>A ENST00000317861.1 + 1 396 c.396G>A c.(394-396)gtG>gtA p.V132V NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 ACTACCCTGTGATCGTGAACT 0.507000 19 34 0 0 0.00229938 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704083 60704083 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:60704083G>A ENST00000005286.4 + 11 2932 c.2779G>A c.(2779-2781)Gag>Aag p.E927K TMEM132A_ENST00000453848.2_Missense_Mutation_p.E926K NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 926 Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTGCCCCTGTGAGAGTGGGGG 0.726000 4 9 0 0 0.000602214 0 0 ZNF318 24149 broad.mit.edu 37 6 43322558 43322558 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:43322558G>A ENST00000361428.2 - 4 2591 c.2514C>T c.(2512-2514)atC>atT p.I838I ZNF318_ENST00000318149.3_Silent_p.I838I NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 838 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCACAGTGGGGATCACACGAA 0.512000 16 47 0 0 0.00152264 0 0 ANXA10 11199 broad.mit.edu 37 4 169099070 169099070 + Silent SNP G G A rs145284874 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:169099070G>A ENST00000359299.3 + 8 750 c.564G>A c.(562-564)acG>acA p.T188T NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 188 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) AGCAGAAGACGGGGGAGCACA 0.502000 26 49 0 0 0.00127121 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123201852 123201852 + Missense_Mutation SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:123201852C>G ENST00000349780.4 - 24 3726 c.3547G>C c.(3547-3549)Gtg>Ctg p.V1183L CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.V1151L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.V1183L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.V1142L NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1183 Interaction with MAPRE1. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGGATTTTCACGTGTTTCACG 0.522000 OREG0019438 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 60 0 0 0.000602214 0 0 HYDIN 54768 broad.mit.edu 37 16 70926327 70926327 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:70926327G>A ENST00000393567.2 - 56 9504 c.9354C>T c.(9352-9354)gtC>gtT p.V3118V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3118 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) AGAAAACTTGGACATTTGTGG 0.473000 21 71 0 0 0.00188189 0 0 C10orf12 26148 broad.mit.edu 37 10 98742252 98742252 + Missense_Mutation SNP G G A rs139771197 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:98742252G>A ENST00000286067.2 + 1 1212 c.1105G>A c.(1105-1107)Ggg>Agg p.G369R NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 369 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AAGCTTTTCCGGGGGAGTCAG 0.488000 26 40 0 0 0.000878237 0 0 MUC16 94025 broad.mit.edu 37 19 9065348 9065348 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9065348C>T ENST00000397910.4 - 3 22301 c.22098G>A c.(22096-22098)gaG>gaA p.E7366E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7368 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 GAGTGGTTATCTCTGAGTGTG 0.498000 7 40 0 0 0.00198382 0 0 OSBP2 23762 broad.mit.edu 37 22 31091508 31091508 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:31091508C>T ENST00000332585.6 + 1 716 c.612C>T c.(610-612)ttC>ttT p.F204F OSBP2_ENST00000446658.2_Silent_p.F204F|OSBP2_ENST00000382310.3_Silent_p.F204F|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 204 PH. lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GCCGCTGGTTCGTGCTGGGCA 0.602000 23 59 0 0 0.000878237 0 0 TFCP2L1 29842 broad.mit.edu 37 2 121989507 121989507 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121989507C>T ENST00000263707.5 - 13 1333 c.1236G>A c.(1234-1236)ttG>ttA p.L412L NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 412 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) CAATCAGCTCCAAGGTGGTCA 0.592000 22 54 0 0 0.00106085 0 0 DRD2 1813 broad.mit.edu 37 11 113286233 113286233 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:113286233C>T ENST00000362072.3 - 5 977 c.633G>A c.(631-633)aaG>aaA p.K211K DRD2_ENST00000544518.1_Silent_p.K210K|DRD2_ENST00000538967.1_Silent_p.K211K|DRD2_ENST00000355319.2_Silent_p.K211K|DRD2_ENST00000542968.1_Silent_p.K211K|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Silent_p.K211K NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 211 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAATGTAGATCTTGATGTAGA 0.562000 25 28 0 0 0.000586117 0 0 OR6B3 150681 broad.mit.edu 37 2 240985208 240985208 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:240985208G>A ENST00000319423.4 - 1 281 c.282C>T c.(280-282)ttC>ttT p.F94F NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TGCACCCGACGAAAGAGATGC 0.567000 10 22 0 0 0.000308642 0 0 GPR115 221393 broad.mit.edu 37 6 47682214 47682214 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47682214C>T ENST00000283303.2 + 6 1491 c.1233C>T c.(1231-1233)gtC>gtT p.V411V GPR115_ENST00000371220.1_Silent_p.V468V|GPR115_ENST00000327753.3_Silent_p.V411V NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 411 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 GGCTCAGCGTCTCAATCCTAA 0.488000 17 36 0 0 0.000566183 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562928 140562928 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140562928C>T ENST00000361016.2 + 1 1949 c.794C>T c.(793-795)tCc>tTc p.S265F NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 265 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S265C(2) 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) GCCACCGTCTCCGCCAGGGAT 0.478000 19 46 0 0 0.00152264 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560508 44560508 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:44560508G>A ENST00000332567.4 - 1 1480 c.1128C>T c.(1126-1128)ttC>ttT p.F376F KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 376 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGGGCTGCTCGAATTCCTCAG 0.507000 21 47 0 0 0.00229938 0 0 BRD8 10902 broad.mit.edu 37 5 137500762 137500762 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:137500762G>A ENST00000254900.5 - 12 1743 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S BRD8_ENST00000230901.5_Missense_Mutation_p.P531S|BRD8_ENST00000455658.2_Missense_Mutation_p.P417S|BRD8_ENST00000411594.2_Missense_Mutation_p.P461S|BRD8_ENST00000402931.1_Missense_Mutation_p.P458S NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 458 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGCTCCCAGGGGCCAGGCAGG 0.537000 24 46 0 0 0.00229938 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017372 93017372 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:93017372C>T ENST00000523629.1 - 6 1166 c.712G>A c.(712-714)Gaa>Aaa p.E238K RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 238 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E238K(1)|p.E201K(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCCCGTTTTCGTTCACATCG 0.542000 25 81 0 0 0.000878237 0 0 SEMA5B 54437 broad.mit.edu 37 3 122631110 122631110 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:122631110A>G ENST00000195173.4 - 19 3105 c.2802T>C c.(2800-2802)cgT>cgC p.R934R SEMA5B_ENST00000451055.2_Silent_p.R989R|SEMA5B_ENST00000357599.3_Silent_p.R935R Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 935 TSP type-1 4. 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) TGGTGCAGGAACGGGTGCGTT 0.637000 4 8 0 0 0.000602214 0 0 C1orf94 84970 broad.mit.edu 37 1 34666597 34666597 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:34666597C>T ENST00000488417.1 + 3 1354 c.1234C>T c.(1234-1236)Cga>Tga p.R412* C1orf94_ENST00000373374.3_Nonsense_Mutation_p.R222* NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 222 protein binding p.R222*(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GCCGAGACTTCGAAACAAAGT 0.577000 5 7 0 0 0.000602214 0 0 FBN3 84467 broad.mit.edu 37 19 8136957 8136957 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8136957C>T ENST00000600128.1 - 63 8477 c.8063G>A c.(8062-8064)cGa>cAa p.R2688Q FBN3_ENST00000601739.1_Missense_Mutation_p.R2688Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2688Q Q75N90 FBN3_HUMAN fibrillin 3 2688 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGCACTGCGTCGTGGCCGGTC 0.637000 23 48 0 0 0.000720815 0 0 C12orf36 283422 broad.mit.edu 37 12 13526287 13526287 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:13526287G>A ENST00000318426.2 - 3 485 c.268C>T c.(268-270)Ctg>Ttg p.L90L C12orf36_ENST00000527705.2_Silent_p.L90L chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) GGATTTCCCAGGGGAGGAGCT 0.463000 54 112 0 0 0.000781405 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583473 80583473 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:80583473C>T ENST00000305904.6 + 3 292 c.172C>T c.(172-174)Cgt>Tgt p.R58C DYNLRB2_ENST00000568035.1_Intron|RP11-109P11.1_ENST00000568275.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.R87C|DYNLRB2_ENST00000570222.1_3'UTR NM_130897.1 NP_570967.1 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 58 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity large_intestine(1)|lung(4)|prostate(1) 6 AAGCACAGTTCGTGATATTGA 0.403000 9 26 0 0 0.000442599 0 0 RYR1 6261 broad.mit.edu 37 19 39017657 39017657 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:39017657G>A ENST00000355481.4 + 71 10767 c.10636G>A c.(10636-10638)Gaa>Aaa p.E3546K RYR1_ENST00000360985.3_Missense_Mutation_p.E3551K|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000359596.3_Missense_Mutation_p.E3551K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3551 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) GGAGGTCCGGGAATTTCTGCA 0.512000 10 32 0 0 0.000422831 0 0 NLRP3 114548 broad.mit.edu 37 1 247588833 247588833 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:247588833G>A ENST00000366497.2 + 4 2868 c.2088G>A c.(2086-2088)aaG>aaA p.K696K NLRP3_ENST00000336119.3_Silent_p.K696K|NLRP3_ENST00000391828.3_Silent_p.K696K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Silent_p.K696K|NLRP3_ENST00000366496.2_Silent_p.K696K|NLRP3_ENST00000348069.2_Silent_p.K696K NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 696 Poly-Glu. 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) AGGAGGAAAAGGAAGGCCGAC 0.527000 6 38 0 0 0.000157383 0 0 FOXD4 2298 broad.mit.edu 37 9 117520 117520 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:117520G>A ENST00000382500.2 - 1 897 c.600C>T c.(598-600)ttC>ttT p.F200F NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 200 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGTGGCGCTGGAAACGCTTCC 0.692000 54 62 0 0 0.000781405 0 0 OR4X1 390113 broad.mit.edu 37 11 48286288 48286288 + Silent SNP G G A rs140713653 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48286288G>A ENST00000320048.1 + 1 876 c.876G>A c.(874-876)gtG>gtA p.V292V NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V292V(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 ATGCTGAAGTGAAAAATGCCA 0.413000 9 40 0 0 0.000274275 0 0 FAT4 79633 broad.mit.edu 37 4 126241934 126241934 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126241934C>T ENST00000394329.3 + 1 4381 c.4368C>T c.(4366-4368)tcC>tcT p.S1456S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1456 Cadherin 14. 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 GTCAACTATCCTACACAATCA 0.388000 25 58 0 0 0.000878237 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26900643 26900643 + Missense_Mutation SNP C C G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:26900643C>G ENST00000374168.2 + 22 2313 c.2159C>G c.(2158-2160)tCc>tGc p.S720C RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S704C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S628C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S628C|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S709C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S729C NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 720 axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATCGAGTCATCCATCCTGGCC 0.627000 31 36 0 0 0.0024448 0 0 ZNF80 7634 broad.mit.edu 37 3 113955649 113955649 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:113955649G>A ENST00000482457.2 - 1 776 c.273C>T c.(271-273)gaC>gaT p.D91D NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 91 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GTCGAACGAAGTCGACCTTTT 0.532000 12 15 0 0 0.00136819 0 0 A2ML1 144568 broad.mit.edu 37 12 9010680 9010680 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9010680C>T ENST00000299698.7 + 26 3426 c.3246C>T c.(3244-3246)ctC>ctT p.L1082L A2ML1_ENST00000539547.1_Silent_p.L591L NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 926 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGGGAAATCTCCTTCACACAG 0.527000 13 17 0 0 0.000308642 0 0 DRGX 644168 broad.mit.edu 37 10 50594600 50594600 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:50594600G>A ENST00000374139.2 - 5 460 c.450C>T c.(448-450)ttC>ttT p.F150F DRGX_ENST00000434016.1_Silent_p.F155F C9JW76 C9JW76_HUMAN dorsal root ganglia homeobox 155 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 AGCAGGAGGGGAAGAAAGGCC 0.622000 6 3 0 0 0.00198382 0 0 OR52E8 390079 broad.mit.edu 37 11 5878020 5878020 + Nonsense_Mutation SNP G G A rs142656457 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5878020G>A ENST00000537935.1 - 1 944 c.913C>T c.(913-915)Cga>Tga p.R305* TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R305*(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCTCTCTCGAATCTGCTTT 0.418000 46 98 0 0 0.000781405 0 0 COL6A6 131873 broad.mit.edu 37 3 130287097 130287097 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:130287097G>A ENST00000358511.6 + 5 2081 c.2050G>A c.(2050-2052)Gac>Aac p.D684N COL6A6_ENST00000453409.2_Missense_Mutation_p.D684N NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 684 Nonhelical region.|VWFA 4. 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 GTCCCAAAGCGACATTTCAAA 0.478000 54 125 0 0 0.000781405 0 0 BIN3 55909 broad.mit.edu 37 8 22481737 22481737 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:22481737G>A ENST00000276416.6 - 7 546 c.478C>T c.(478-480)Cag>Tag p.Q160* BIN3_ENST00000519513.1_Nonsense_Mutation_p.Q106*|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Nonsense_Mutation_p.Q112* NM_018688.4 NP_061158.1 Q9NQY0 BIN3_HUMAN bridging integrator 3 160 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 9 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) CCTGGTACCTGGTGGAGCTTG 0.627000 10 24 0 0 0.00136819 0 0 ASTN1 460 broad.mit.edu 37 1 176913084 176913084 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:176913084C>T ENST00000367654.2 - 14 2357 c.2344G>A c.(2344-2346)Gag>Aag p.E782K ASTN1_ENST00000424564.2_Missense_Mutation_p.E774K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E774K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E774K|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 782 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 CATTGATTCTCCAGGGGCACA 0.522000 13 37 0 0 0.00185496 0 0 SPON1 10418 broad.mit.edu 37 11 14101558 14101558 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:14101558G>A ENST00000310358.7 + 0 1202 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) ACACCCAAAGGATTACCCTCG 0.483000 15 40 0 0 0.00074312 0 0 LILRA1 11024 broad.mit.edu 37 19 55106319 55106319 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55106319C>T ENST00000453777.1 + 4 430 c.260C>T c.(259-261)tCc>tTc p.S87F LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S87F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 87 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCCATCCCATCCATCACCTGG 0.562000 30 60 0 0 0.00178596 0 0 DMBX1 127343 broad.mit.edu 37 1 46976761 46976761 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:46976761C>T ENST00000371956.4 + 3 518 c.503C>T c.(502-504)cCa>cTa p.P168L DMBX1_ENST00000360032.3_Missense_Mutation_p.P163L NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 168 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) GAGCAGCCCCCACGTCTGCCT 0.647000 45 59 0 0 0.000781405 0 0 MYCT1 80177 broad.mit.edu 37 6 153042884 153042884 + Silent SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:153042884T>A ENST00000367245.5 + 2 212 c.204T>A c.(202-204)ctT>ctA p.L68L MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 68 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CAGAGGACCTTATCATGTCCT 0.373000 21 37 0 0 0.00229938 0 0 SPAM1 6677 broad.mit.edu 37 7 123594010 123594010 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:123594010A>T ENST00000340011.5 + 3 743 c.386A>T c.(385-387)aAa>aTa p.K129I SPAM1_ENST00000223028.7_Missense_Mutation_p.K129I|SPAM1_ENST00000460182.1_Missense_Mutation_p.K129I|SPAM1_ENST00000439500.1_Missense_Mutation_p.K129I|SPAM1_ENST00000402183.2_Missense_Mutation_p.K129I NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 129 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AAAGCTAAGAAAGACATTACA 0.408000 24 51 0 0 0.000586117 0 0 GPR176 11245 broad.mit.edu 37 15 40094123 40094123 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:40094123G>A ENST00000299092.3 - 4 953 c.755C>T c.(754-756)tCt>tTt p.S252F GPR176_ENST00000543580.1_Missense_Mutation_p.S208F|GPR176_ENST00000561100.1_Missense_Mutation_p.S253F|GPR176_ENST00000560729.1_5'UTR NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 253 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) ATAGGGAATAGAGATGGTGTT 0.587000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 27 0 0 0.00278032 0 0 TAS2R38 5726 broad.mit.edu 37 7 141673171 141673171 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141673171G>A ENST00000547270.1 - 1 402 c.319C>T c.(319-321)Ctc>Ttc p.L107F NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 107 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) GCAAGCCAGAGGTTGGCTTGG 0.517000 30 71 0 0 0.00058488 0 0 OR13C8 138802 broad.mit.edu 37 9 107331799 107331799 + Silent SNP G G A rs140558238 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107331799G>A ENST00000335040.1 + 1 351 c.351G>A c.(349-351)acG>acA p.T117T NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 117 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 TCTTAGGCACGATGGCACTGG 0.522000 23 54 0 0 0.00229938 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45644352 45644352 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:45644352C>T ENST00000427229.2 + 0 523 CCTTGAGTTTCGAGTGGGTGA 0.353000 9 12 0 0 0.000673444 0 0 ARMC4 55130 broad.mit.edu 37 10 28149605 28149605 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:28149605G>A ENST00000305242.5 - 19 3062 c.2970C>T c.(2968-2970)ctC>ctT p.L990L ARMC4_ENST00000545014.1_Silent_p.L515L|ARMC4_ENST00000537576.1_Silent_p.L682L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 990 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CGTCTTCTGAGAGTTGGTACA 0.483000 27 61 0 0 0.00106085 0 0 TCF21 6943 broad.mit.edu 37 6 134210846 134210846 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:134210846C>T ENST00000367882.4 + 1 571 c.311C>T c.(310-312)aCc>aTc p.T104I RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T104I NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 104 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AGACTCAAGACCACCCTGCCC 0.667000 20 61 0 0 0.00121646 0 0 SYNE2 23224 broad.mit.edu 37 14 64588807 64588807 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:64588807G>A ENST00000357395.3 + 70 13535 c.2391G>A c.(2389-2391)caG>caA p.Q797Q SYNE2_ENST00000344113.4_Silent_p.Q4412Q|SYNE2_ENST00000553455.1_Silent_p.Q131Q|SYNE2_ENST00000394768.2_Silent_p.Q797Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.Q4412Q|SYNE2_ENST00000554584.1_Silent_p.Q4427Q|SYNE2_ENST00000555002.1_Silent_p.Q1046Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4412 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) TGTGGCCCCAGTATTGCCAAC 0.333000 32 23 0 0 0.00178596 0 0 PDZD2 23037 broad.mit.edu 37 5 32089405 32089405 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:32089405C>T ENST00000438447.1 + 20 6239 c.5851C>T c.(5851-5853)Ccc>Tcc p.P1951S PDZD2_ENST00000282493.3_Missense_Mutation_p.P1951S O15018 PDZD2_HUMAN PDZ domain containing 2 1951 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CACAGCTGCCCCCAGGTCCCC 0.577000 16 49 0 0 0.000566183 0 0 COL11A2 1302 broad.mit.edu 37 6 33154564 33154564 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33154564C>T ENST00000341947.2 - 5 865 c.638G>A c.(637-639)gGg>gAg p.G213E COL11A2_ENST00000374713.1_Missense_Mutation_p.G213E|COL11A2_ENST00000361917.1_Missense_Mutation_p.G213E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G213E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G213E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G213E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G213E|COL11A2_ENST00000395194.1_Missense_Mutation_p.G213E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G213E NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 213 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGCCTGGACCCCTGGGACAAT 0.562000 35 130 0 0 0.00222228 0 0 PROSER1 80209 broad.mit.edu 37 13 39611365 39611365 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:39611365G>A ENST00000352251.3 - 1 848 c.15C>T c.(13-15)tcC>tcT p.S5S PROSER1_ENST00000350125.3_Silent_p.S5S NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 5 CCATTTCAAAGGACTTTTTAT 0.368000 17 34 0 0 0.00121646 0 0 CDH13 1012 broad.mit.edu 37 16 83636148 83636148 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:83636148G>A ENST00000566620.1 + 8 1340 c.1050G>A c.(1048-1050)acG>acA p.T350T CDH13_ENST00000428848.3_Silent_p.T311T|CDH13_ENST00000268613.10_Silent_p.T397T NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 350 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCACAGCCACGATCATGATCG 0.463000 12 143 0 0 0.00136819 0 0 TMEM202 338949 broad.mit.edu 37 15 72700033 72700033 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:72700033G>A ENST00000341689.3 + 5 675 c.619_splice c.e5-1 p.G207_splice TMEM202_ENST00000567679.1_3'UTR NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 207 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TTCCCGTAGGGATCATCTCTC 0.443000 44 8 0 0 0.000781405 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553766 140553766 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140553766C>T ENST00000231137.3 + 1 1524 c.1350C>T c.(1348-1350)gcC>gcT p.A450A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 450 Cadherin 4. 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) ACGCTCCCGCCTTCACCCAAA 0.592000 53 96 0 0 0.000781405 0 0 NELL2 4753 broad.mit.edu 37 12 44902763 44902763 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:44902763C>T ENST00000429094.2 - 20 2909 c.2405G>A c.(2404-2406)gGc>gAc p.G802D NELL2_ENST00000395487.2_Missense_Mutation_p.G801D|NELL2_ENST00000551601.1_Missense_Mutation_p.G754D|NELL2_ENST00000437801.2_Missense_Mutation_p.G852D|NELL2_ENST00000549027.1_Missense_Mutation_p.G801D|NELL2_ENST00000452445.2_Missense_Mutation_p.G802D|NELL2_ENST00000333837.4_Missense_Mutation_p.G825D NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 802 VWFC 5. 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) ACAGATGTGGCCATTCTAGAT 0.323000 17 57 0 0 0.00121646 0 0 OR51L1 119682 broad.mit.edu 37 11 5021082 5021082 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5021082C>T ENST00000321543.1 + 1 870 c.870C>T c.(868-870)aaC>aaT p.N290N NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTCCTTAACCCTATTGTCT 0.453000 18 38 0 0 0.00152264 0 0 AMPD2 271 broad.mit.edu 37 1 110163683 110163683 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:110163683C>T ENST00000256578.3 + 1 408 c.48C>T c.(46-48)ttC>ttT p.F16F AMPD2_ENST00000528667.1_Silent_p.F16F|AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000526301.1_Intron NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 16 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GCCGCTGCTTCCTGCATCAGT 0.682000 4 12 0 0 0.00116845 0 0 SLC12A5 57468 broad.mit.edu 37 20 44663592 44663592 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:44663592G>A ENST00000454036.1 + 2 203 c.127G>A c.(127-129)Ggc>Agc p.G43S SLC12A5_ENST00000372315.1_Missense_Mutation_p.G20S|SLC12A5_ENST00000539566.1_Missense_Mutation_p.G20S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G20S NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 43 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTCAGGTGATGGCAACCCCAA 0.527000 15 78 0 0 0.000958276 0 0 DMXL1 1657 broad.mit.edu 37 5 118484445 118484445 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:118484445T>A ENST00000311085.8 + 18 3003 c.2923T>A c.(2923-2925)Tca>Aca p.S975T DMXL1_ENST00000539542.1_Missense_Mutation_p.S975T NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 975 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACATCTGAGTTCATCTTCTAT 0.313000 28 95 0 0 0.001512 0 0 IGFBP3 3486 broad.mit.edu 37 7 45954538 45954538 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:45954538G>A ENST00000275521.6 - 4 890 c.757C>T c.(757-759)Cct>Tct p.P253S IGFBP3_ENST00000381086.5_Missense_Mutation_p.P156S|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P259S NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 253 Thyroglobulin type-1. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) CCTTTGGAAGGGCGACACTGT 0.587000 20 29 0 0 0.000586117 0 0 CNBD1 168975 broad.mit.edu 37 8 87951846 87951846 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:87951846G>A ENST00000518476.1 + 4 346 c.295G>A c.(295-297)Gaa>Aaa p.E99K NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 99 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AGGCAAAGAGGAAAGTCAACA 0.348000 38 94 0 0 0.000680045 0 0 OR10J1 26476 broad.mit.edu 37 1 159410279 159410279 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159410279G>A ENST00000423932.3 + 1 768 c.731G>A c.(730-732)cGg>cAg p.R244Q RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 244 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) GTTGAGGGCCGGAAGAAGGCT 0.478000 24 47 0 0 0.000586117 0 0 HTR4 3360 broad.mit.edu 37 5 147928410 147928410 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:147928410G>A ENST00000360693.3 - 4 312 c.174C>T c.(172-174)ttC>ttT p.F58F HTR4_ENST00000377888.3_Silent_p.F58F|HTR4_ENST00000517929.1_Silent_p.F58F|HTR4_ENST00000314512.6_Silent_p.F58F|HTR4_ENST00000521735.1_Silent_p.F58F|HTR4_ENST00000362016.2_Silent_p.F58F|HTR4_ENST00000354217.2_Silent_p.F58F|HTR4_ENST00000520514.1_Silent_p.F58F|HTR4_ENST00000521530.1_Silent_p.F58F NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 58 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GAGATACAATGAAATAATTTG 0.453000 6 18 0 0 0.00198382 0 0 OR10J3 441911 broad.mit.edu 37 1 159283508 159283508 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159283508C>T ENST00000332217.5 - 1 941 c.942G>A c.(940-942)atG>atA p.M314I NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AACCTCTCTTCATTAAGGAGA 0.413000 26 70 0 0 0.00127121 0 0 AVP 551 broad.mit.edu 37 20 3065240 3065240 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:3065240C>T ENST00000380293.3 - 1 130 c.81G>A c.(79-81)agG>agA p.R27R NM_000490.4 NP_000481.2 P01185 NEU2_HUMAN arginine vasopressin 27 cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding central_nervous_system(1)|prostate(1)|skin(1) 3 COAD - Colon adenocarcinoma(99;0.00643) TCTTGCCGCCCCTCGGGCAGT 0.647000 29 83 0 0 0.00058488 0 0 LMBR1L 55716 broad.mit.edu 37 12 49497573 49497573 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:49497573C>T ENST00000267102.8 - 6 801 c.459G>A c.(457-459)gaG>gaA p.E153E LMBR1L_ENST00000395141.4_Silent_p.E148E|LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Silent_p.E153E NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 153 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCACCACTGTCTCATAGACCC 0.552000 37 106 0 0 0.00128727 0 0 ANGPT1 284 broad.mit.edu 37 8 108264096 108264096 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:108264096G>A ENST00000520734.1 - 8 1169 c.884C>T c.(883-885)cCt>cTt p.P295L ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.P294L Q15389 ANGP1_HUMAN angiopoietin 1 495 Fibrinogen C-terminal. 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) AAAATCTAAAGGTCGAATCAT 0.418000 26 59 0 0 0.000878237 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185407269 185407269 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:185407269C>A ENST00000382199.2 - 6 646 c.551G>T c.(550-552)gGg>gTg p.G184V IGF2BP2_ENST00000346192.3_Missense_Mutation_p.G184V|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.G190V|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.G127V NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 184 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) AGAAGTGCCCCCAGGGGCGTG 0.607000 8 236 2.17888e-05 8.45304e-05 0.000442599 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077940 19077940 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:19077940T>C ENST00000329773.2 - 2 97 c.10A>G c.(10-12)Acc>Gcc p.T4A NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 4 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 GCCGGGGTGGTTGGATCCATG 0.502000 51 152 0 0 0.000781405 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449092 104449092 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104449092C>T ENST00000361820.3 - 2 1690 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 364 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTCCTCAGTTCCTCCACATTC 0.512000 17 23 0 0 0.000422831 0 0 MCM10 55388 broad.mit.edu 37 10 13214665 13214665 + Silent SNP T T G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:13214665T>G ENST00000378694.1 + 4 567 c.492T>G c.(490-492)gtT>gtG p.V164V MCM10_ENST00000484800.2_Silent_p.V165V|MCM10_ENST00000378714.3_Silent_p.V164V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 165 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AGAGGAGAGTTCAGAGAATTC 0.473000 12 54 0 0 0.00185496 0 0 MYO7B 4648 broad.mit.edu 37 2 128370139 128370139 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:128370139A>G ENST00000389524.4 + 25 3334 c.3281A>G c.(3280-3282)cAc>cGc p.H1094R MYO7B_ENST00000409816.2_Missense_Mutation_p.H1094R|MYO7B_ENST00000428314.1_Missense_Mutation_p.H1094R Q6PIF6 MYO7B_HUMAN myosin VIIB 1094 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GAGAAGGTGCACTTCATCGTG 0.607000 4 6 0 0 0.00024832 0 0 KIAA0368 23392 broad.mit.edu 37 9 114136276 114136276 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:114136276G>A ENST00000259335.4 - 40 4686 c.4687C>T c.(4687-4689)Cct>Tct p.P1563S KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.P1385S NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 AGGTCCTGAGGACACTGAGTA 0.428000 63 76 0 0 0.000781405 0 0 OR2T2 401992 broad.mit.edu 37 1 248616432 248616432 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248616432G>A ENST00000342927.3 + 1 356 c.334G>A c.(334-336)Gaa>Aaa p.E112K NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATTGGAGGGGAATTCTTCCT 0.537000 21 149 0 0 0.00047179 0 0 ENPEP 2028 broad.mit.edu 37 4 111470877 111470877 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:111470877C>T ENST00000265162.5 + 17 2678 c.2336C>T c.(2335-2337)cCc>cTc p.P779L NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 779 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) TCTAGCCTTCCCGTAAATCTC 0.398000 22 49 0 0 0.000586117 0 0 RBM11 54033 broad.mit.edu 37 21 15592007 15592007 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:15592007C>T ENST00000400577.3 + 2 229 c.220C>T c.(220-222)Cgt>Tgt p.R74C RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 74 RRM. nucleotide binding|RNA binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) GAATGGAATTCGTTTATATGG 0.388000 9 30 0 0 0.000673444 0 0 RUFY2 55680 broad.mit.edu 37 10 70161453 70161453 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:70161453G>A ENST00000388768.2 - 3 651 c.325C>T c.(325-327)Cct>Tct p.P109S RUFY2_ENST00000602465.1_Missense_Mutation_p.P74S|RUFY2_ENST00000342616.4_Missense_Mutation_p.P74S|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Missense_Mutation_p.P74S|RUFY2_ENST00000454950.2_Missense_Mutation_p.P16S NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 123 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AGTTCCAAAGGGCCCCAGATG 0.403000 18 16 0 0 0.00074312 0 0 KIAA0100 9703 broad.mit.edu 37 17 26965341 26965341 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:26965341G>A ENST00000528896.2 - 13 1515 c.1441C>T c.(1441-1443)Cag>Tag p.Q481* KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q338*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q338* NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 481 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) GGCGCCCGCTGAATGTGGGAG 0.572000 26 26 0 0 0.000586117 0 0 B4GALNT3 283358 broad.mit.edu 37 12 665942 665942 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:665942G>A ENST00000266383.5 + 15 2303 c.2290G>A c.(2290-2292)Gtc>Atc p.V764I NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 764 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) TAGGAGACAGGTCCTGAATAC 0.647000 11 20 0 0 0.000978159 0 0 ALG14 199857 broad.mit.edu 37 1 95538398 95538398 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:95538398G>A ENST00000370205.4 - 1 103 c.57C>T c.(55-57)atC>atT p.I19I ALG14_ENST00000495856.1_5'UTR NM_144988.3 NP_659425.1 Q96F25 ALG14_HUMAN ALG14, UDP-N-acetylglucosaminyltransferase subunit 19 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 6 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.0615)|Epithelial(280;0.139) ATATTCGCAGGATTAGGAAAA 0.587000 56 55 0 0 0.000781405 0 0 FHOD1 29109 broad.mit.edu 37 16 67265199 67265199 + Silent SNP C C T rs143498229 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:67265199C>T ENST00000258201.4 - 17 2806 c.2559G>A c.(2557-2559)acG>acA p.T853T FHOD1_ENST00000567687.1_Silent_p.T432T NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 853 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTCGACGCACCGTGTCCTTCA 0.587000 15 25 0 0 0.000566183 0 0 NLRP7 199713 broad.mit.edu 37 19 55450450 55450450 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55450450C>T ENST00000446217.1 - 6 2223 c.1821G>A c.(1819-1821)caG>caA p.Q607Q NLRP7_ENST00000448121.2_Silent_p.Q579Q|NLRP7_ENST00000592784.1_Silent_p.Q579Q|NLRP7_ENST00000590030.1_Silent_p.Q579Q|NLRP7_ENST00000588756.1_Silent_p.Q579Q|NLRP7_ENST00000340844.2_Silent_p.Q579Q|NLRP7_ENST00000328092.5_Silent_p.Q579Q Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 579 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCTCCTCCTCCTGAGACTCAT 0.493000 17 42 0 0 0.000958276 0 0 CEP192 55125 broad.mit.edu 37 18 13068116 13068116 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:13068116C>T ENST00000506447.1 + 23 4718 c.4638C>T c.(4636-4638)ttC>ttT p.F1546F CEP192_ENST00000430049.2_Silent_p.F1071F|CEP192_ENST00000325971.8_Silent_p.F950F NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1141 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGCGCTGTTTCACGTTTTCCA 0.463000 28 91 0 0 0.00127121 0 0 LINC01566 283914 broad.mit.edu 37 16 34624169 34624169 + RNA SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:34624169G>C ENST00000569242.1 + 0 2015 NR_027079.1 CTGCCAGGGTGAATGTGAAAG 0.453000 65 94 0 0 0.000781405 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656152 167656152 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:167656152C>T ENST00000357154.3 - 12 1368 c.1231G>A c.(1231-1233)Gat>Aat p.D411N SPOCK3_ENST00000511531.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D408N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D291N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D411N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D315N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D368N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D360N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D408N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D279N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D313N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D313N NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 411 Asp-rich. 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) tcatcttcatcattcataata 0.358000 12 42 0 0 0.00136819 0 0 TAF1L 138474 broad.mit.edu 37 9 32633981 32633981 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:32633981G>A ENST00000242310.4 - 1 1686 c.1597C>T c.(1597-1599)Cct>Tct p.P533S 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 533 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) TTCTCATCAGGAATTTCCAAA 0.483000 36 44 0 0 0.000814825 0 0 PIGV 55650 broad.mit.edu 37 1 27121059 27121059 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27121059C>T ENST00000374145.1 + 3 1216 c.534C>T c.(532-534)ttC>ttT p.F178F PIGV_ENST00000449950.2_Intron|PIGV_ENST00000078527.4_Silent_p.F178F NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 178 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) TCCTGACATTCAGTGCCATGG 0.562000 21 61 0 0 0.00188189 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443452 17443452 + RNA SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:17443452T>C ENST00000458468.1 + 0 46 NR_027790.1 GAGAACGCTGTCTGGGCTTGG 0.468000 49 120 0 0 0.000781405 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469100 25469100 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25469100G>A ENST00000264709.3 - 11 1695 c.1358C>T c.(1357-1359)cCa>cTa p.P453L DNMT3A_ENST00000321117.5_Missense_Mutation_p.P453L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P264L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P230L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 453 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTTTTGGCTGGTGGAGGTGG 0.562000 """Mis, F, N, S""" AML 32 82 0 0 0.000692331 0 0 PCED1B 91523 broad.mit.edu 37 12 47629900 47629900 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:47629900C>T ENST00000546455.1 + 4 1785 c.1054C>T c.(1054-1056)Caa>Taa p.Q352* PCED1B_ENST00000432328.1_Nonsense_Mutation_p.Q352* PC-esterase domain containing 1B CCAGTCGGATCAATTCTATTG 0.527000 37 77 0 0 0.00111076 0 0 PRF1 5551 broad.mit.edu 37 10 72358237 72358237 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:72358237G>A ENST00000441259.1 - 3 1400 c.1240C>T c.(1240-1242)Ctg>Ttg p.L414L PRF1_ENST00000373209.2_Silent_p.L414L NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 414 apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 AGCTGGGCCAGGCCCCTCTGC 0.652000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 8 2 0 0 0.000274275 0 0 ZNF676 163223 broad.mit.edu 37 19 22363165 22363165 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:22363165C>T ENST00000397121.2 - 3 1671 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 452 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) CCACATTCTTCACATTTGTAG 0.438000 30 83 0 0 0.000814825 0 0 DNAH9 1770 broad.mit.edu 37 17 11631209 11631209 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:11631209C>T ENST00000262442.3 + 28 5852 c.5784C>T c.(5782-5784)tcC>tcT p.S1928S DNAH9_ENST00000454412.2_Silent_p.S1928S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1928 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATCGAATCTCCGTGGAGGTCT 0.483000 12 11 0 0 0.00185496 0 0 SLC5A8 160728 broad.mit.edu 37 12 101581190 101581190 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:101581190C>T ENST00000536262.2 - 7 1495 c.937G>A c.(937-939)Gcc>Acc p.A313T NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 313 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ACTTTCTTGGCTGTCCAAGGA 0.433000 21 32 0 0 0.00278032 0 0 ASIC1 41 broad.mit.edu 37 12 50453691 50453691 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:50453691C>T ENST00000228468.4 + 3 897 c.512C>T c.(511-513)tCc>tTc p.S171F ASIC1_ENST00000447966.2_Missense_Mutation_p.S171F NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 171 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ATGCTGCTCTCCTGCCACTTC 0.597000 15 26 0 0 0.00074312 0 0 KPRP 448834 broad.mit.edu 37 1 152733215 152733215 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152733215C>T ENST00000368773.1 + 2 1209 c.1151C>T c.(1150-1152)cCa>cTa p.P384L KPRP_ENST00000606109.1_Missense_Mutation_p.P384L NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 384 Pro-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) AGCTTCTGTCCACCACGGCGT 0.637000 13 30 0 0 0.00244969 0 0 NEIL2 252969 broad.mit.edu 37 8 11637335 11637335 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11637335C>T ENST00000284503.6 + 3 966 c.367C>T c.(367-369)Cct>Tct p.P123S NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.P62S|NEIL2_ENST00000436750.3_Missense_Mutation_p.P123S|NEIL2_ENST00000455213.2_Missense_Mutation_p.P123S NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) 123 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) GAGAGACGCCCCTGCAGGAGA 0.587000 Base excision repair (BER), DNA glycosylases 15 47 0 0 0.000422831 0 0 FOLH1 2346 broad.mit.edu 37 11 49190808 49190808 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:49190808C>T ENST00000340334.7 - 13 1634 c.1266G>A c.(1264-1266)gaG>gaA p.E422E FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.E437E|FOLH1_ENST00000356696.3_Silent_p.E437E|FOLH1_ENST00000343844.4_Silent_p.E129E|FOLH1_ENST00000533034.1_Silent_p.E422E NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 437 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTCTTGAATTCTCCTATAATA 0.343000 15 36 0 0 0.000958276 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68179591 68179591 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:68179591C>T ENST00000262215.3 - 11 2048 c.1659G>A c.(1657-1659)acG>acA p.T553T ARFGEF1_ENST00000520381.1_Silent_p.T7T NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 553 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CACAAATCCTCGTCAGTGTCT 0.303000 31 82 0 0 0.00111076 0 0 OR52E2 119678 broad.mit.edu 37 11 5079889 5079889 + Silent SNP C C T rs148031312 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5079889C>T ENST00000321522.2 - 1 968 c.969G>A c.(967-969)acG>acA p.T323T NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TTCAGAACCTCGTATGTATTA 0.318000 21 49 0 0 0.00278032 0 0 SLC43A3 29015 broad.mit.edu 37 11 57182185 57182185 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:57182185G>A ENST00000395123.2 - 11 1267 c.963C>T c.(961-963)gcC>gcT p.A321A SLC43A3_ENST00000529554.1_Silent_p.A321A|SLC43A3_ENST00000395124.1_Silent_p.A321A|SLC43A3_ENST00000533524.1_Silent_p.A334A|SLC43A3_ENST00000352187.1_Silent_p.A321A NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 321 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TGAAGGCAAAGGCATTTGTGT 0.522000 62 80 0 0 0.000781405 0 0 SALL2 6297 broad.mit.edu 37 14 21990273 21990273 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:21990273G>A ENST00000317492.5 - 3 509 c.497C>T c.(496-498)cCt>cTt p.P166L SALL2_ENST00000450879.2_Silent_p.L864L|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000327430.3_3'UTR|SALL2_ENST00000538754.1_Missense_Mutation_p.P164L Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 0 Poly-Pro. 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) ACAGTTCCTAGGCCAAACAGC 0.582000 7 6 0 0 0.000157383 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276351 153276351 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153276351G>A ENST00000290722.1 - 4 563 c.511C>T c.(511-513)Cca>Tca p.P171S NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 171 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) GGCATCACTGGATGTTGAGGG 0.532000 23 71 0 0 0.00047179 0 0 SELE 6401 broad.mit.edu 37 1 169697258 169697258 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:169697258G>A ENST00000333360.7 - 8 1359 c.1220C>T c.(1219-1221)tCc>tTc p.S407F SELE_ENST00000367781.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.S407F|SELE_ENST00000367776.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.S407F|SELE_ENST00000367775.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 407 Sushi 4. 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) GAGCCTTTTGGATCCCTTCAA 0.463000 34 82 0 0 0.000953801 0 0 MSLN 10232 broad.mit.edu 37 16 813661 813661 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:813661G>A ENST00000566549.1 + 4 566 c.149G>A c.(148-150)gGa>gAa p.G50E MSLN_ENST00000382862.3_Missense_Mutation_p.G50E|MSLN_ENST00000563941.1_Missense_Mutation_p.G50E|MSLN_ENST00000545450.2_Missense_Mutation_p.G50E Q13421 MSLN_HUMAN mesothelin 50 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CCCCTGGACGGAGTCCTGGCC 0.667000 4 12 0 0 0.00116845 0 0 FAM71C 196472 broad.mit.edu 37 12 100042121 100042121 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:100042121G>A ENST00000324341.1 + 1 591 c.169G>A c.(169-171)Gga>Aga p.G57R ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 57 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CAGCAAAAGAGGAGAAGTGAT 0.527000 22 54 0 0 0.000720815 0 0 BCAS3 54828 broad.mit.edu 37 17 59118169 59118169 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:59118169G>A ENST00000589222.1 + 19 2013 c.1945G>A c.(1945-1947)Gaa>Aaa p.E649K BCAS3_ENST00000408905.3_Missense_Mutation_p.E649K|BCAS3_ENST00000585744.1_Missense_Mutation_p.E435K|BCAS3_ENST00000407086.3_Missense_Mutation_p.E649K|BCAS3_ENST00000588874.1_Missense_Mutation_p.E420K|BCAS3_ENST00000588462.1_Missense_Mutation_p.E664K|BCAS3_ENST00000390652.5_Missense_Mutation_p.E664K|RP11-264B14.1_ENST00000588604.1_RNA Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 664 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TCAATGGAATGAATTGCAGCC 0.413000 80 110 0 0 0.000781405 0 0 CSF3R 1441 broad.mit.edu 37 1 36941240 36941240 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:36941240G>A ENST00000373103.1 - 4 646 c.99C>T c.(97-99)gcC>gcT p.A33A CSF3R_ENST00000440588.2_Silent_p.A33A|CSF3R_ENST00000373106.1_Silent_p.A33A|CSF3R_ENST00000418048.2_Silent_p.A33A|CSF3R_ENST00000331941.5_Silent_p.A33A|CSF3R_ENST00000361632.4_Silent_p.A33A|CSF3R_ENST00000373104.1_Silent_p.A33A|CSF3R_ENST00000338937.5_Silent_p.A33A NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 33 Ig-like C2-type. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGACGATGGGGGCTGAGACAC 0.602000 14 17 0 0 0.000958276 0 0 BPIFC 254240 broad.mit.edu 37 22 32827390 32827390 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:32827390G>A ENST00000397452.1 - 12 1271 c.1161C>T c.(1159-1161)acC>acT p.T387T BPIFC_ENST00000300399.3_Silent_p.T387T|BPIFC_ENST00000534972.1_Silent_p.T111T|BPIFC_ENST00000432451.2_Silent_p.T144T Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 387 extracellular region lipopolysaccharide binding|phospholipid binding GGCCAACACTGGTACTAGCAA 0.373000 8 22 0 0 0.000274275 0 0 CXCL3 2921 broad.mit.edu 37 4 74903826 74903826 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:74903826C>T ENST00000296026.4 - 3 369 c.292G>A c.(292-294)Gaa>Aaa p.E98K CXCL3_ENST00000511669.1_5'UTR NM_002090.2 NP_002081.2 P19876 CXCL3_HUMAN chemokine (C-X-C motif) ligand 3 98 immune response|inflammatory response|neutrophil chemotaxis extracellular space chemokine activity central_nervous_system(1)|endometrium(1) 2 Breast(15;0.00612) all cancers(17;0.00273)|Lung(101;0.196) AGTATCTTTTCGATGATTTTC 0.468000 13 36 0 0 0.00136819 0 0 FAT3 120114 broad.mit.edu 37 11 92085510 92085510 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:92085510G>A ENST00000298047.6 + 1 249 c.232G>A c.(232-234)Gat>Aat p.D78N FAT3_ENST00000409404.2_Missense_Mutation_p.D78N|FAT3_ENST00000541502.1_Missense_Mutation_p.D78N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 78 Cadherin 1. 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) TCTATCCTGGGATATCAAATA 0.413000 TCGA Ovarian(4;0.039) 173 215 0 0 0.000781405 0 0 TTLL2 83887 broad.mit.edu 37 6 167754124 167754124 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:167754124C>T ENST00000239587.5 + 3 824 c.736C>T c.(736-738)Cct>Tct p.P246S NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 246 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TATCTCCAATCCTTTACTTAT 0.383000 31 94 0 0 0.00127121 0 0 INTS9 55756 broad.mit.edu 37 8 28625707 28625707 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:28625707C>T ENST00000416984.2 - 16 2229 c.1870G>A c.(1870-1872)Gtg>Atg p.V624M INTS9_ENST00000521777.1_Missense_Mutation_p.V621M|INTS9_ENST00000521022.1_Missense_Mutation_p.V645M|INTS9_ENST00000397363.4_Missense_Mutation_p.V539M NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 645 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CGCAGTCGCACTCTGAGCATC 0.537000 65 130 0 0 0.000781405 0 0 RUFY3 22902 broad.mit.edu 37 4 71648891 71648891 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:71648891C>T ENST00000226328.4 + 9 1541 c.978C>T c.(976-978)tcC>tcT p.S326S RUFY3_ENST00000417478.2_Silent_p.S386S|RUFY3_ENST00000502653.1_Silent_p.S273S|RUFY3_ENST00000536664.1_Silent_p.S310S|RUFY3_ENST00000381006.3_Silent_p.S326S NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 326 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) TACTGGAATCCAATCGGAAGG 0.358000 12 20 0 0 0.00244969 0 0 KCNQ1 3784 broad.mit.edu 37 11 2591881 2591881 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:2591881C>T ENST00000155840.5 + 3 609 c.501C>T c.(499-501)ttC>ttT p.F167F KCNQ1_ENST00000335475.5_Silent_p.F40F NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 167 FG -> W (in LQT1). 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) TGGTGTTCTTCGGGACGGAGT 0.642000 45 91 0 0 0.000781405 0 0 CORO2A 7464 broad.mit.edu 37 9 100888860 100888860 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:100888860C>T ENST00000343933.5 - 11 1674 c.1417G>A c.(1417-1419)Gaa>Aaa p.E473K CORO2A_ENST00000375077.4_Missense_Mutation_p.E473K NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 473 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.E473K(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GGGGGGCATTCGAAAACGTCA 0.567000 31 133 0 0 0.00111076 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713260 142713260 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:142713260C>T ENST00000369381.2 - 0 1345 TCTTTCATTTCCTTTATTTGC 0.363000 25 52 0 0 0.000878237 0 0 NRK 203447 broad.mit.edu 37 X 105189954 105189954 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:105189954C>T ENST00000428173.2 + 25 4456 c.4153C>T c.(4153-4155)Cca>Tca p.P1385S NRK_ENST00000243300.9_Missense_Mutation_p.P1384S Q7Z2Y5 NRK_HUMAN Nik related kinase 1384 CNH. 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 GGCAGCTGATCCAGTGAACCG 0.448000 HNSCC(51;0.14) 11 6 0 0 0.000673444 0 0 IGDCC3 9543 broad.mit.edu 37 15 65628177 65628177 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:65628177C>T ENST00000327987.4 - 3 778 c.527G>A c.(526-528)aGa>aAa p.R176K NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 176 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AATTGGGACTCTGTTCTTCTC 0.587000 66 35 0 0 0.000781405 0 0 ZNF813 126017 broad.mit.edu 37 19 53994065 53994065 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:53994065G>A ENST00000396403.4 + 4 707 c.579G>A c.(577-579)ggG>ggA p.G193G ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ATAACTATGGGAATAATTTCC 0.363000 54 113 0 0 0.000781405 0 0 CR1L 1379 broad.mit.edu 37 1 207890857 207890857 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:207890857G>A ENST00000508064.2 + 11 1523 c.1463G>A c.(1462-1464)gGa>gAa p.G488E NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 488 Sushi 8. cytoplasm|extracellular region|membrane p.G488E(1)|p.G488A(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGACACACAGGAACTCCCCTT 0.428000 28 81 0 0 0.0024448 0 0 BRAT1 221927 broad.mit.edu 37 7 2583225 2583225 + Splice_Site SNP G G A rs145047426 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:2583225G>A ENST00000340611.4 - 5 1058 c.803_splice c.e5+1 p.R268_splice NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 268 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 GGCCCTGACCGAGCCACACAG 0.677000 12 41 0 0 0.000308642 0 0 FBXO15 201456 broad.mit.edu 37 18 71740773 71740773 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:71740773C>T ENST00000269500.5 - 10 1563 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K FBXO15_ENST00000419743.2_Missense_Mutation_p.E486K|FBXO15_ENST00000580806.1_5'UTR NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 410 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AGGTATTCTTCGGTCTCTCTG 0.453000 49 136 0 0 0.000781405 0 0 OR4S1 256148 broad.mit.edu 37 11 48327915 48327915 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:48327915C>T ENST00000319988.1 + 1 141 c.141C>T c.(139-141)atC>atT p.I47I NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TCATCACCATCAATGCTAGAA 0.448000 38 70 0 0 0.00111076 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123301373 123301373 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:123301373C>T ENST00000349780.4 - 6 632 c.453G>A c.(451-453)aaG>aaA p.K151K CDK5RAP2_ENST00000360822.3_Silent_p.K151K|CDK5RAP2_ENST00000360190.4_Silent_p.K151K|CDK5RAP2_ENST00000359309.3_Silent_p.K151K NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 151 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GCTGCACCTTCTTTCGAGCAT 0.458000 52 167 0 0 0.000781405 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675876 167675876 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:167675876G>A ENST00000357154.3 - 9 860 c.723C>T c.(721-723)ttC>ttT p.F241F SPOCK3_ENST00000511531.1_Silent_p.F241F|SPOCK3_ENST00000504953.1_Silent_p.F238F|SPOCK3_ENST00000506886.1_Silent_p.F241F|SPOCK3_ENST00000511269.1_Silent_p.F238F|SPOCK3_ENST00000541354.1_Silent_p.F121F|SPOCK3_ENST00000502330.1_Silent_p.F241F|SPOCK3_ENST00000534949.1_Silent_p.F145F|SPOCK3_ENST00000510741.1_Silent_p.F198F|SPOCK3_ENST00000421836.2_Silent_p.F190F|SPOCK3_ENST00000357545.4_Silent_p.F238F|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Silent_p.F109F|SPOCK3_ENST00000512648.1_Silent_p.F238F|SPOCK3_ENST00000512681.1_Silent_p.F143F|SPOCK3_ENST00000541637.1_Silent_p.F143F NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 241 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) TGCTGGTATCGAATCCTAAAG 0.383000 16 44 0 0 0.000958276 0 0 TLR10 81793 broad.mit.edu 37 4 38774794 38774794 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:38774794C>T ENST00000308973.4 - 4 3023 c.2418G>A c.(2416-2418)atG>atA p.M806I TLR10_ENST00000508334.1_Missense_Mutation_p.M806I|TLR10_ENST00000506111.1_Missense_Mutation_p.M806I|TLR10_ENST00000361424.2_Missense_Mutation_p.M806I NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 806 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 AATCTGTTCTCATCAGAGAGA 0.393000 21 34 0 0 0.00047179 0 0 MRPS7 51081 broad.mit.edu 37 17 73258480 73258480 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:73258480C>T ENST00000579002.1 + 1 488 c.73C>T c.(73-75)Ccc>Tcc p.P25S MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 0 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) GCGCCGCTCCCCCTCGTCGGC 0.592000 26 25 0 0 0.000586117 0 0 ZNF572 137209 broad.mit.edu 37 8 125989878 125989878 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:125989878C>T ENST00000319286.5 + 3 1522 c.1368C>T c.(1366-1368)atC>atT p.I456I NM_152412.2 NP_689625.2 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 31 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) TTAACCTTATCAGGCACCGGA 0.458000 HNSCC(60;0.17) 44 119 0 0 0.000781405 0 0 ATOH8 84913 broad.mit.edu 37 2 85991120 85991120 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:85991120T>A ENST00000306279.3 + 2 1071 c.775T>A c.(775-777)Tgc>Agc p.C259S ATOH8_ENST00000463422.1_3'UTR NM_032827.6 NP_116216.2 Q96SQ7 ATOH8_HUMAN atonal homolog 8 (Drosophila) 259 Helix-loop-helix motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 TCAGGTGCCGTGCTACTCATA 0.617000 4 13 0 0 0.00116845 0 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768640 31768640 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:31768640C>T ENST00000355459.2 + 1 249 c.236C>T c.(235-237)tCc>tTc p.S79F NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 79 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGCCAGACCTCCTGCTACCGT 0.607000 19 38 0 0 0.00188189 0 0 ACSM1 116285 broad.mit.edu 37 16 20682950 20682950 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:20682950C>T ENST00000307493.4 - 4 722 c.655G>A c.(655-657)Gac>Aac p.D219N ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.D219N NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 219 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 ACCATTGGGTCCAAGGTCTTT 0.483000 23 53 0 0 0.00047179 0 0 MGAM 8972 broad.mit.edu 37 7 141732706 141732706 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:141732706C>T ENST00000475668.2 + 14 1720 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S MGAM_ENST00000549489.2_Missense_Mutation_p.P556S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 556 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) CCCATTCACTCCCAGTAAGTC 0.378000 8 14 0 0 0.000274275 0 0 CFAP54 144535 broad.mit.edu 37 12 97078503 97078503 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:97078503G>A ENST00000524981.3 + 8 1147 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K Q6ZTY8 CL063_HUMAN 357 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 CATCTTCGCAGAAAAGAAAAG 0.323000 29 84 0 0 0.001512 0 0 FAM26E 254228 broad.mit.edu 37 6 116836900 116836900 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:116836900G>A ENST00000368599.3 + 2 729 c.678G>A c.(676-678)ttG>ttA p.L226L TRAPPC3L_ENST00000368602.3_Intron NM_153711.2 NP_714922.1 Q8N5C1 FA26E_HUMAN family with sequence similarity 26, member E 226 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) AGGAGCAGTTGGAAAATACAT 0.438000 33 56 0 0 0.000953801 0 0 MLF1 4291 broad.mit.edu 37 3 158310243 158310243 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:158310243G>A ENST00000355893.5 + 2 206 c.68G>A c.(67-69)cGa>cAa p.R23Q MLF1_ENST00000478894.2_5'UTR|MLF1_ENST00000484955.1_5'UTR|MLF1_ENST00000471745.1_5'UTR|MLF1_ENST00000469452.1_5'UTR|MLF1_ENST00000392822.3_Missense_Mutation_p.R39Q|MLF1_ENST00000359117.5_5'UTR|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000482628.1_5'UTR NM_022443.4 NP_071888.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 23 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) CTTGCACACCGAGAAAATATG 0.363000 T NPM1 AML 14 38 0 0 0.000958276 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887684 30887684 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:30887684G>A ENST00000392772.2 - 11 1072 c.795C>T c.(793-795)ttC>ttT p.F265F SEC14L4_ENST00000255858.7_Silent_p.F319F|SEC14L4_ENST00000381982.3_Silent_p.F319F|SEC14L4_ENST00000540456.1_Silent_p.F304F Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 319 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TGGTCTTCAGGAAAACCCCAA 0.627000 15 65 0 0 0.000958276 0 0 NPY5R 4889 broad.mit.edu 37 4 164272537 164272537 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:164272537C>T ENST00000515560.1 + 4 2634 c.1112C>T c.(1111-1113)aCc>aTc p.T371I NPY5R_ENST00000338566.3_Missense_Mutation_p.T371I|NPY5R_ENST00000506953.1_Missense_Mutation_p.T371I Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 371 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TACAGACTGACCATACTGATA 0.328000 27 54 0 0 0.000878237 0 0 ATAD2B 54454 broad.mit.edu 37 2 23977110 23977110 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:23977110G>A ENST00000238789.5 - 27 4617 c.4274C>T c.(4273-4275)tCt>tTt p.S1425F ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1425 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTAAGAAGAGAATATAATCT 0.308000 8 4 0 0 0.000442599 0 0 RNPEP 6051 broad.mit.edu 37 1 201972423 201972423 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:201972423C>T ENST00000295640.4 + 9 1528 c.1485C>T c.(1483-1485)ctC>ctT p.L495L RNPEP_ENST00000367286.3_Silent_p.L456L|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 495 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCCCTGATCTCTCCCCTGGGG 0.567000 10 25 0 0 0.000673444 0 0 SV2A 9900 broad.mit.edu 37 1 149879344 149879344 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:149879344G>A ENST00000369146.3 - 10 2076 c.1586C>T c.(1585-1587)tCc>tTc p.S529F SV2A_ENST00000369145.1_Missense_Mutation_p.S529F NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 529 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TTCAAACAGGGAATCCTCAAA 0.493000 21 39 0 0 0.00188189 0 0 SCRIB 23513 broad.mit.edu 37 8 144874935 144874935 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144874935G>A ENST00000356994.2 - 30 4126 c.4120C>T c.(4120-4122)Cct>Tct p.P1374S SCRIB_ENST00000377533.3_Missense_Mutation_p.P1293S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P1374S|SCRIB_ENST00000546337.1_5'UTR NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1374 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACGCGCTTAGGGGGGCCCTCG 0.697000 7 10 0 0 0.00198382 0 0 NYAP2 57624 broad.mit.edu 37 2 226446965 226446965 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:226446965G>A ENST00000272907.6 + 4 1245 c.832G>A c.(832-834)Gac>Aac p.D278N NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 278 TATCTTTGACGACTTGGGCCA 0.537000 32 54 0 0 0.001512 0 0 MYO18B 84700 broad.mit.edu 37 22 26219577 26219577 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26219577G>A ENST00000335473.7 + 13 2877 c.2627G>A c.(2626-2628)cGa>cAa p.R876Q MYO18B_ENST00000407587.2_Missense_Mutation_p.R876Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.R876Q NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 876 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CACCACCTTCGACAGATCATC 0.577000 64 161 0 0 0.000781405 0 0 OR51E1 143503 broad.mit.edu 37 11 4674639 4674639 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4674639G>A ENST00000396952.5 + 2 1533 c.883G>A c.(883-885)Gga>Aga p.G295R OR51E1_ENST00000530215.1_Missense_Mutation_p.M71I NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 294 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) AATTGTCTATGGAGTGAAGAC 0.512000 30 63 0 0 0.00283554 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561514 32561514 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:32561514G>A ENST00000345122.3 + 2 1954 c.1639G>A c.(1639-1641)Gga>Aga p.G547R ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G547R|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G547R|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G547R NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 547 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TAAGCATATAGGATTTGTTTA 0.353000 18 19 0 0 0.00152264 0 0 CLUL1 27098 broad.mit.edu 37 18 619283 619283 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:619283G>A ENST00000581619.1 + 3 1099 c.252G>A c.(250-252)atG>atA p.M84I CLUL1_ENST00000400606.2_Missense_Mutation_p.M59I|CLUL1_ENST00000540035.1_Missense_Mutation_p.M111I|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000338387.7_Missense_Mutation_p.M59I|CLUL1_ENST00000579494.1_Missense_Mutation_p.M59I Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 59 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 TTAAGCAAATGAAAATCATGA 0.378000 13 27 0 0 0.00185496 0 0 ARAP2 116984 broad.mit.edu 37 4 36230379 36230379 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:36230379G>A ENST00000303965.4 - 2 1219 c.730C>T c.(730-732)Cca>Tca p.P244S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 244 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 TTAAAGAATGGGGATGGTGGT 0.388000 28 65 0 0 0.00209593 0 0 TCF19 6941 broad.mit.edu 37 6 31129706 31129706 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:31129706C>T ENST00000376257.3 + 3 1475 c.721C>T c.(721-723)Cct>Tct p.P241S TCF19_ENST00000376255.4_Missense_Mutation_p.P241S|TCF19_ENST00000496421.1_3'UTR NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 241 Pro-rich. P -> L (in dbSNP:rs2073724). cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GAGTGAGCCTCCTGAGAACCC 0.577000 14 58 0 0 0.00074312 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356900 104356900 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:104356900C>T ENST00000374806.1 - 1 383 c.313G>A c.(313-315)Gat>Aat p.D105N GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 102 EF-hand 3. 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) CCATCTTTATCCATGTCGTAA 0.532000 54 60 0 0 0.000781405 0 0 PRSS35 167681 broad.mit.edu 37 6 84234203 84234203 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84234203C>T ENST00000536636.1 + 3 1388 c.1043C>T c.(1042-1044)tCg>tTg p.S348L PRSS35_ENST00000369700.3_Missense_Mutation_p.S348L NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 348 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TCCACCGGTTCGGGGGTCTAT 0.517000 23 61 0 0 0.000586117 0 0 LMAN2L 81562 broad.mit.edu 37 2 97373551 97373551 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:97373551G>A ENST00000264963.4 - 7 826 c.804C>T c.(802-804)tcC>tcT p.S268S LMAN2L_ENST00000377079.4_Silent_p.S279S|LMAN2L_ENST00000537039.1_Silent_p.S130S|LMAN2L_ENST00000534882.1_Silent_p.S123S|LMAN2L_ENST00000426463.2_Silent_p.S134S NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 268 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 ACAACTTCAAGGAAATGACAT 0.418000 24 66 0 0 0.001512 0 0 MRC2 9902 broad.mit.edu 37 17 60741970 60741970 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:60741970G>A ENST00000303375.5 + 2 582 c.180G>A c.(178-180)ggG>ggA p.G60G NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 60 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 CCCAGGGCGGGCAGGTCAGAG 0.622000 22 70 0 0 0.00229938 0 0 TEX15 56154 broad.mit.edu 37 8 30703036 30703036 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:30703036G>A ENST00000256246.2 - 1 3572 c.3498C>T c.(3496-3498)ccC>ccT p.P1166P NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1166 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTCCAGAAAAGGGCTGATGTT 0.358000 16 40 0 0 0.000308642 0 0 MYH4 4622 broad.mit.edu 37 17 10353861 10353861 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10353861C>T ENST00000255381.2 - 30 4200 c.4090G>A c.(4090-4092)Gga>Aga p.G1364R CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1364 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 TTGGACATTCCCCTCTGCAGC 0.612000 36 39 0 0 0.00170553 0 0 NDRG2 57447 broad.mit.edu 37 14 21485762 21485762 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:21485762G>A ENST00000556147.1 - 16 2049 c.1109C>T c.(1108-1110)tCc>tTc p.S370F NDRG2_ENST00000298687.5_Missense_Mutation_p.S370F|NDRG2_ENST00000553503.1_Missense_Mutation_p.S356F|NDRG2_ENST00000554143.1_Missense_Mutation_p.S356F|NDRG2_ENST00000397844.2_Missense_Mutation_p.S340F|NDRG2_ENST00000403829.3_Missense_Mutation_p.S366F|NDRG2_ENST00000554104.1_Missense_Mutation_p.S283F|NDRG2_ENST00000360463.3_Missense_Mutation_p.S356F|NDRG2_ENST00000397853.3_Missense_Mutation_p.S370F|NDRG2_ENST00000397856.3_Missense_Mutation_p.S340F|NDRG2_ENST00000298684.5_Missense_Mutation_p.S327F|NDRG2_ENST00000397858.1_Missense_Mutation_p.S370F|NDRG2_ENST00000397847.2_Missense_Mutation_p.S359F|NDRG2_ENST00000350792.3_Missense_Mutation_p.S356F|NDRG2_ENST00000397851.2_Missense_Mutation_p.S370F|NDRG2_ENST00000555158.1_Missense_Mutation_p.S356F|NDRG2_ENST00000397855.3_Missense_Mutation_p.S327F Q9UN36 NDRG2_HUMAN NDRG family member 2 370 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) CATTCAACAGGAGACCTCCAT 0.632000 3 7 0 0 0.00024832 0 0 ADH1C 126 broad.mit.edu 37 4 100263983 100263983 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:100263983G>A ENST00000515683.1 - 0 1148 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 101 210 0 0 0.000781405 0 0 OR1J4 26219 broad.mit.edu 37 9 125281448 125281448 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125281448C>T ENST00000340750.1 + 1 29 c.29C>T c.(28-30)tCt>tTt p.S10F NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 AGCAGTGTGTCTGAGTTCCTC 0.502000 22 96 0 0 0.00278032 0 0 FAM153C 653316 broad.mit.edu 37 5 177468702 177468702 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:177468702G>A ENST00000398106.2 + 6 595 c.142G>A c.(142-144)Gaa>Aaa p.E48K FAM153C_ENST00000507848.1_Missense_Mutation_p.E48K|FAM153C_ENST00000511189.1_Missense_Mutation_p.E77K family with sequence similarity 153, member C kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) AGGTGACCTGGAAGACCTGGA 0.527000 72 139 0 0 0.000781405 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509276 110509276 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110509276G>A ENST00000378402.5 + 64 10560 c.10456G>A c.(10456-10458)Gat>Aat p.D3486N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3486 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) GACATGCTGGGATTATGGAAT 0.338000 HNSCC(38;0.096) 26 83 0 0 0.000878237 0 0 CYCS 54205 broad.mit.edu 37 7 25163633 25163633 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:25163633G>A ENST00000305786.2 - 2 275 c.106C>T c.(106-108)Ctc>Ttc p.L36F CYCS_ENST00000409764.1_Missense_Mutation_p.L36F|CYCS_ENST00000409409.1_Missense_Mutation_p.L36F NM_018947.5 NP_061820.1 P99999 CYC_HUMAN cytochrome c, somatic 36 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 4 Melatonin(DB01065)|Minocycline(DB01017) CGCCCAAAGAGACCATGGAGA 0.448000 20 53 0 0 0.000958276 0 0 CHD4 1108 broad.mit.edu 37 12 6715448 6715448 + Missense_Mutation SNP G G A rs138912992 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6715448G>A ENST00000309577.6 - 2 255 c.92C>T c.(91-93)cCc>cTc p.P31L CHD4_ENST00000544484.1_Missense_Mutation_p.P31L|CHD4_ENST00000357008.2_Missense_Mutation_p.P31L|CHD4_ENST00000544040.1_Missense_Mutation_p.P31L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 31 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACCTGGGTGGGGTGGGGGCAG 0.657000 19 25 0 0 0.00152264 0 0 PCDH15 65217 broad.mit.edu 37 10 55568613 55568613 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:55568613C>T ENST00000395445.1 - 36 5591 c.5197G>A c.(5197-5199)Gaa>Aaa p.E1733K PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.E598K|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E929K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.E667K NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 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) TCCTCACTTTCCACACCTCCT 0.507000 HNSCC(58;0.16) 6 5 0 0 0.000157383 0 0 FAM105A 54491 broad.mit.edu 37 5 14607499 14607499 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:14607499C>T ENST00000274217.3 + 6 679 c.559C>T c.(559-561)Cct>Tct p.P187S NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 187 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) CAGTTTTGGTCCTGAGAAGTA 0.378000 20 51 0 0 0.00229938 0 0 UNC13A 23025 broad.mit.edu 37 19 17741529 17741529 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:17741529C>T ENST00000428389.2 - 30 3722 c.3723G>A c.(3721-3723)ctG>ctA p.L1241L UNC13A_ENST00000519716.2_Silent_p.L1153L|UNC13A_ENST00000252773.7_Silent_p.L1153L|UNC13A_ENST00000550896.1_Silent_p.L1151L|UNC13A_ENST00000552293.1_Silent_p.L1153L|UNC13A_ENST00000551649.1_Silent_p.L1153L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1153 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CATTCTCATCCAGCCACTGGA 0.582000 20 35 0 0 0.00047179 0 0 SPATA6L 55064 broad.mit.edu 37 9 4635384 4635384 + Missense_Mutation SNP G G A rs112181012 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:4635384G>A ENST00000454239.2 - 5 487 c.242C>T c.(241-243)gCc>gTc p.A81V SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Missense_Mutation_p.A95V|SPATA6L_ENST00000381895.5_5'UTR|SPATA6L_ENST00000475086.1_Intron B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 38 TTCGTAGTAGGCCAACTCATC 0.443000 8 13 0 0 0.000274275 0 0 PTGFR 5737 broad.mit.edu 37 1 78958515 78958515 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:78958515C>T ENST00000370756.3 + 2 324 c.87C>T c.(85-87)tcC>tcT p.S29S PTGFR_ENST00000370757.3_Silent_p.S29S|PTGFR_ENST00000370758.1_Silent_p.S29S NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 29 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ACCGGCTTTCCGTATTTTTTT 0.438000 25 80 0 0 0.000586117 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101869 69101869 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:69101869C>T ENST00000332644.5 - 3 401 c.240_splice c.e3+1 p.K80_splice NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 80 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 TCTGATTTACCTTAGTCTCAA 0.284000 11 22 0 0 0.000673444 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093207 30093207 + RNA SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:30093207A>C ENST00000567636.1 + 0 1582 NR_003558.1 GGGAACCCCCACCAAGGATAC 0.532000 3 4 0 0 6.4e-05 0 0 CR1 1378 broad.mit.edu 37 1 207758215 207758215 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:207758215C>T ENST00000367049.4 + 33 5524 c.5524C>T c.(5524-5526)Cgt>Tgt p.R1842C CR1_ENST00000367052.1_Missense_Mutation_p.R1392C|CR1_ENST00000367053.1_Missense_Mutation_p.R1392C|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R1392C|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R1392C NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1392 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 ACTTTCTGTTCGTGCTGGTCA 0.488000 32 61 0 0 0.0024448 0 0 N4BP2 55728 broad.mit.edu 37 4 40104546 40104546 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:40104546C>T ENST00000261435.6 + 4 1497 c.1081C>T c.(1081-1083)Ccg>Tcg p.P361S NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 361 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GCCACCTCCACCGATGTGGAA 0.517000 25 52 0 0 0.000720815 0 0 GNA11 2767 broad.mit.edu 37 19 3118967 3118967 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:3118967C>T ENST00000078429.4 + 5 893 c.651C>T c.(649-651)atC>atT p.I217I AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 217 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GGAAGTGGATCCACTGCTTTG 0.617000 Mis uveal melanoma 17 50 0 0 0.00152264 0 0 CDK13 8621 broad.mit.edu 37 7 40102466 40102466 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:40102466C>T ENST00000181839.4 + 8 3247 c.2642C>T c.(2641-2643)cCa>cTa p.P881L CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.P881L NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 881 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TGGTACCGTCCACCTGAACTG 0.388000 120 248 0 0 0.000781405 0 0 ANKIB1 54467 broad.mit.edu 37 7 91924316 91924316 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:91924316C>T ENST00000265742.3 + 2 400 c.24C>T c.(22-24)ttC>ttT p.F8F NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 8 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CCACCAAATTCCGTAAAGCAC 0.388000 4 13 0 0 0.00024832 0 0 MISP 126353 broad.mit.edu 37 19 757656 757656 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:757656C>T ENST00000215582.6 + 2 813 c.710C>T c.(709-711)cCc>cTc p.P237L NM_173481.2 NP_775752.1 mitotic spindle positioning TTCAACAAGCCCCACCTGGCC 0.682000 4 4 0 0 0.00116845 0 0 OR2L3 391192 broad.mit.edu 37 1 248223987 248223987 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:248223987G>A ENST00000359959.3 + 1 4 c.4G>A c.(4-6)Gaa>Aaa p.E2K OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 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) ATGCCCCATGGAAAATTACAA 0.408000 52 123 0 0 0.000781405 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367188 105367188 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:105367188C>T ENST00000297581.2 + 3 1162 c.1113C>T c.(1111-1113)ttC>ttT p.F371F DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 371 osteoclast differentiation cell surface|integral to membrane|plasma membrane AACCAAAATTCCTTCTATCTG 0.353000 18 57 0 0 0.000958276 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777712 43777712 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:43777712C>T ENST00000389420.3 - 30 4520 c.4521G>A c.(4519-4521)caG>caA p.Q1507Q NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1507 TSP type-1 12. 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) CTTCAACCACCTGACCAACAC 0.502000 29 43 0 0 0.00127121 0 0 ERICH1 157697 broad.mit.edu 37 8 614674 614674 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:614674G>A ENST00000262109.7 - 6 1338 c.1261C>T c.(1261-1263)Cat>Tat p.H421Y ERICH1_ENST00000522706.1_Intron NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 421 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) ACTCTGGCATGGTCTAGAAAG 0.348000 24 77 0 0 0.000720815 0 0 STRBP 55342 broad.mit.edu 37 9 125901814 125901814 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125901814G>A ENST00000447404.2 - 13 1795 c.1491C>T c.(1489-1491)acC>acT p.T497T STRBP_ENST00000360998.3_Silent_p.T483T|STRBP_ENST00000348403.5_Silent_p.T497T Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 497 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ATACCTCTAAGGTACTGGAGG 0.289000 7 41 0 0 0.000157383 0 0 MARC1 64757 broad.mit.edu 37 1 220970051 220970051 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:220970051C>T ENST00000366910.5 + 3 702 c.516C>T c.(514-516)ttC>ttT p.F172F MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 172 molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding TAACCAGCTTCCTGAAGTCAC 0.602000 9 26 0 0 0.000673444 0 0 HDAC9 9734 broad.mit.edu 37 7 18767315 18767315 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:18767315C>T ENST00000406451.3 + 13 1985 c.1835C>T c.(1834-1836)tCc>tTc p.S612F HDAC9_ENST00000432645.2_Missense_Mutation_p.S612F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S571F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S615F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 612 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ACTCACTCTTCCCCTGCTGCC 0.587000 6 11 0 0 0.00116845 0 0 PREX2 80243 broad.mit.edu 37 8 69136817 69136817 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:69136817G>A ENST00000288368.4 + 39 5008 c.4731G>A c.(4729-4731)gcG>gcA p.A1577A 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 1577 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 AGAACACAGCGAAGAATTTGG 0.458000 10 36 0 0 0.000673444 0 0 PPP2CB 5516 broad.mit.edu 37 8 30655114 30655114 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:30655114C>T ENST00000221138.4 - 3 919 c.469G>A c.(469-471)Gct>Act p.A157T PPP2CB_ENST00000518564.1_Intron NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 157 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) TCTACTAAAGCTGTAAGTGGA 0.383000 16 47 0 0 0.000958276 0 0 OR51A7 119687 broad.mit.edu 37 11 4929315 4929315 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4929315C>T ENST00000359350.4 + 1 716 c.716C>T c.(715-717)aCc>aTc p.T239I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCCTAAATACCTGTGTCTCC 0.478000 46 120 0 0 0.000781405 0 0 FAM71B 153745 broad.mit.edu 37 5 156592675 156592675 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156592675C>T ENST00000302938.4 - 1 600 c.505G>A c.(505-507)Gaa>Aaa p.E169K NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 169 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACAAGTTTTTCCCAATAGCAA 0.498000 117 275 0 0 0.000781405 0 0 CLCN1 1180 broad.mit.edu 37 7 143017764 143017764 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143017764C>T ENST00000343257.2 + 3 396 c.309C>T c.(307-309)atC>atT p.I103I NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 103 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) TAGATTGTATCCACCGCCTGG 0.438000 12 37 0 0 0.00136819 0 0 XRN2 22803 broad.mit.edu 37 20 21314391 21314391 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:21314391T>C ENST00000377191.3 + 11 1078 c.983T>C c.(982-984)gTt>gCt p.V328A XRN2_ENST00000539513.1_Missense_Mutation_p.V274A|XRN2_ENST00000430571.2_Missense_Mutation_p.V252A NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 328 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 ACATTTGATGTTGAGAGGAGC 0.428000 70 161 0 0 0.000781405 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83374994 83374994 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:83374994C>T ENST00000262752.2 - 9 695 c.688G>A c.(688-690)Gct>Act p.A230T RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A230T NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 230 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 AATGAGTAAGCCTTCTTTTCT 0.373000 17 15 0 0 0.000958276 0 0 OR5D14 219436 broad.mit.edu 37 11 55563901 55563901 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:55563901G>A ENST00000335605.1 + 1 870 c.870G>A c.(868-870)ctG>ctA p.L290L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 290 L -> P (in dbSNP:rs297055). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L290L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGAACCCTCTGATCTACAGCC 0.408000 24 16 0 0 0.00127121 0 0 CYLC2 1539 broad.mit.edu 37 9 105767772 105767772 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:105767772G>A ENST00000374798.3 + 5 929 c.859G>A c.(859-861)Gat>Aat p.D287N CYLC2_ENST00000487798.1_Missense_Mutation_p.D287N NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 287 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CTCAAAGGATgatgtcaagaa 0.398000 11 29 0 0 0.00136819 0 0 RRN3 54700 broad.mit.edu 37 16 15179506 15179506 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:15179506A>T ENST00000198767.6 - 6 605 c.522T>A c.(520-522)gaT>gaA p.D174E RRN3_ENST00000564131.1_Missense_Mutation_p.D174E|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.D141E|RRN3_ENST00000540462.1_Missense_Mutation_p.D25E|RRN3_ENST00000429751.2_Missense_Mutation_p.D144E|RRN3_ENST00000563559.1_Missense_Mutation_p.D174E NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 174 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 TATCATCTTCATCATCAGAAT 0.403000 12 17 0 0 0.00185496 0 0 MYH15 22989 broad.mit.edu 37 3 108195301 108195301 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:108195301G>A ENST00000273353.3 - 13 1292 c.1236C>T c.(1234-1236)atC>atT p.I412I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 412 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTCTAGGATGGATCAAGCACT 0.388000 14 33 0 0 0.00185496 0 0 ELAC1 55520 broad.mit.edu 37 18 48500853 48500853 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:48500853C>T ENST00000269466.3 + 2 186 c.79C>T c.(79-81)Cgg>Tgg p.R27W ELAC1_ENST00000591429.1_Missense_Mutation_p.R27W|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.R27W|ELAC1_ENST00000588577.1_Missense_Mutation_p.R27W|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_5'UTR NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 27 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) TGTGGTCCTTCGGTGTGAAGG 0.532000 11 36 0 0 0.000978159 0 0 EMR1 2015 broad.mit.edu 37 19 6904109 6904109 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6904109C>T ENST00000312053.4 + 8 902 c.865C>T c.(865-867)Ctg>Ttg p.L289L EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.L237L|EMR1_ENST00000381407.5_Silent_p.L148L|EMR1_ENST00000250572.8_Silent_p.L289L NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 289 EGF-like 6; 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) CACCAATGCCCTGGGCTCCTA 0.473000 24 52 0 0 0.000720815 0 0 ACE2 59272 broad.mit.edu 37 X 15605946 15605946 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:15605946C>T ENST00000427411.1 - 7 948 c.732G>A c.(730-732)gtG>gtA p.V244V ACE2_ENST00000252519.3_Silent_p.V244V NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 244 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) ACTTTGCCCTCACATAGGCAT 0.398000 33 18 0 0 0.00128727 0 0 CD2 914 broad.mit.edu 37 1 117311132 117311132 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:117311132G>A ENST00000369478.3 + 5 891 c.783G>A c.(781-783)agG>agA p.R261R NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 261 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) CTGAAGAAAGGGGCCGGAAGC 0.512000 5 25 0 0 0.000602214 0 0 COBL 23242 broad.mit.edu 37 7 51097239 51097239 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:51097239G>A ENST00000395542.2 - 12 1984 c.1800C>T c.(1798-1800)atC>atT p.I600I COBL_ENST00000265136.7_Silent_p.I518I O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 518 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) ATGCACCATGGATGGAGCTGG 0.488000 27 59 0 0 0.0024448 0 0 AP2A2 161 broad.mit.edu 37 11 993824 993824 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:993824C>T ENST00000448903.2 + 13 1762 c.1621C>T c.(1621-1623)Ctg>Ttg p.L541L AP2A2_ENST00000332231.5_Silent_p.L542L|AP2A2_ENST00000534328.1_Intron NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 541 axon guidance|endocytosis|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|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CGCGCTGCTCCTGTCCACCTA 0.637000 3 10 0 0 0.000602214 0 0 IBTK 25998 broad.mit.edu 37 6 82924094 82924094 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:82924094A>T ENST00000306270.7 - 12 2603 c.2054T>A c.(2053-2055)gTt>gAt p.V685D IBTK_ENST00000510291.1_Missense_Mutation_p.V685D|IBTK_ENST00000503631.1_Intron NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 685 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ACTTTTGTAAACTTCAAATGC 0.333000 23 78 0 0 0.00278032 0 0 ZNF710 374655 broad.mit.edu 37 15 90610516 90610516 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:90610516C>T ENST00000268154.4 + 2 398 c.147C>T c.(145-147)ccC>ccT p.P49P NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 49 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) ACCTGGGGCCCGAGCTTTCAG 0.672000 16 6 0 0 0.000566183 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332526 22332526 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:22332526C>T ENST00000558896.1 + 0 333 TGCTATTGTCCTGGGAAACCT 0.388000 49 44 0 0 0.000781405 0 0 OR4C13 283092 broad.mit.edu 37 11 49974218 49974218 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:49974218G>A ENST00000555099.1 + 1 276 c.244G>A c.(244-246)Gat>Aat p.D82N NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 GCTGATCACAGATTCACTCTA 0.418000 49 140 0 0 0.000781405 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222032 140222032 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140222032G>A ENST00000531613.1 + 1 1126 c.1126G>A c.(1126-1128)Gac>Aac p.D376N PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D376N NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGCGTGAACGACCTCGATTC 0.502000 53 92 0 0 0.000781405 0 0 HYDIN 54768 broad.mit.edu 37 16 70891710 70891710 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:70891710G>A ENST00000393567.2 - 72 12343 c.12193C>T c.(12193-12195)Ccc>Tcc p.P4065S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4065 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) TTGTGCTCGGGAATTAGGAAG 0.468000 6 32 0 0 0.000274275 0 0 VIL1 7429 broad.mit.edu 37 2 219294026 219294026 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:219294026G>A ENST00000248444.5 + 7 674 c.586G>A c.(586-588)Gag>Aag p.E196K VIL1_ENST00000440053.1_Missense_Mutation_p.E196K|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 196 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGGCCAAGGAGATCCGAGA 0.617000 15 37 0 0 0.000566183 0 0 WASF3 10810 broad.mit.edu 37 13 27250709 27250709 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:27250709C>T ENST00000335327.5 + 7 742 c.564C>T c.(562-564)acC>acT p.T188T WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 188 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TAGATGGCACCACCCGTGAGG 0.463000 16 40 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179416592 179416592 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179416592C>T ENST00000589042.1 - 335 91259 c.91035G>A c.(91033-91035)tgG>tgA p.W30345* TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W28704*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W27777*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21405*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21280*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21472* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28704 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) CTGGAGCATCCCAAGTTAGTG 0.408000 67 131 0 0 0.000781405 0 0 GALR1 2587 broad.mit.edu 37 18 74962745 74962745 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:74962745G>A ENST00000299727.3 + 1 241 c.241G>A c.(241-243)Gac>Aac p.D81N NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 81 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) GAGCATCGCCGACCTGGCCTA 0.627000 27 48 0 0 0.00106085 0 0 IK 3550 broad.mit.edu 37 5 140039372 140039372 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140039372C>T ENST00000417647.2 + 14 1366 c.1227C>T c.(1225-1227)tcC>tcT p.S409S NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 409 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCAAGTCCATCAATGAAA 0.478000 4 2 0 0 0.000602214 0 0 AP001347.6 0 broad.mit.edu 37 21 15399842 15399842 + RNA SNP C C T rs13047459 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:15399842C>T ENST00000428809.1 + 0 101 TCTGCCACTCCCTCCGTCGCT 0.577000 9 21 0 0 0.000274275 0 0 POLR3E 55718 broad.mit.edu 37 16 22328451 22328451 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:22328451C>T ENST00000299853.5 + 12 956 c.789C>T c.(787-789)gcC>gcT p.A263A POLR3E_ENST00000418581.2_Silent_p.A227A|POLR3E_ENST00000564209.1_Silent_p.A263A|POLR3E_ENST00000359210.4_Silent_p.A263A NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 263 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) AGCCTGTGGCCCCCAGCAACG 0.632000 25 59 0 0 0.00209593 0 0 TENM1 10178 broad.mit.edu 37 X 123539077 123539077 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:123539077G>A ENST00000422452.2 - 27 5258 c.5195C>T c.(5194-5196)tCc>tTc p.S1732F TENM1_ENST00000371130.3_Missense_Mutation_p.S1725F|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GACACGCAGGGAACCATCTGG 0.537000 23 10 0 0 0.00278032 0 0 UST 10090 broad.mit.edu 37 6 149262487 149262487 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:149262487C>T ENST00000367463.4 + 3 467 c.364C>T c.(364-366)Ctg>Ttg p.L122L NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 122 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) GGTCTTGCTTCTGAGAATCTT 0.438000 34 79 0 0 0.00058488 0 0 STK24 8428 broad.mit.edu 37 13 99115960 99115960 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:99115960G>A ENST00000397517.2 - 7 990 c.914C>T c.(913-915)tCc>tTc p.S305F STK24_ENST00000539966.1_Missense_Mutation_p.S286F|STK24_ENST00000376547.3_Missense_Mutation_p.S317F NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 317 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) GGAATCCTCGGAGCTCGAGTC 0.522000 7 20 0 0 0.000157383 0 0 ZC3H18 124245 broad.mit.edu 37 16 88691074 88691074 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:88691074C>T ENST00000301011.5 + 12 2163 c.1963C>T c.(1963-1965)Cct>Tct p.P655S ZC3H18_ENST00000452588.2_Missense_Mutation_p.P679S NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 655 Ser-rich. nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AACCACTGCTCCTGTCCCCGA 0.692000 7 12 0 0 0.000673444 0 0 KRT9 3857 broad.mit.edu 37 17 39725762 39725762 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:39725762G>A ENST00000246662.4 - 4 1025 c.960C>T c.(958-960)acC>acT p.T320T KRT9_ENST00000588431.1_Silent_p.T87T NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 320 Linker 12.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TGAGGGTCTTGGTGAGATCTT 0.498000 40 54 0 0 0.00170553 0 0 NOS3 4846 broad.mit.edu 37 7 150695477 150695477 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:150695477G>A ENST00000297494.3 + 6 972 c.615G>A c.(613-615)caG>caA p.Q205Q NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Silent_p.Q205Q|NOS3_ENST00000484524.1_Silent_p.Q205Q NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 205 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGTCTGCACAGGAAATGTTCA 0.617000 9 24 0 0 0.000673444 0 0 GPR112 139378 broad.mit.edu 37 X 135429748 135429748 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:135429748G>A ENST00000394143.1 + 6 4174 c.3883G>A c.(3883-3885)Gaa>Aaa p.E1295K GPR112_ENST00000287534.4_Missense_Mutation_p.E1232K|GPR112_ENST00000412101.1_Missense_Mutation_p.E1090K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1090K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1295K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1295 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) TCCATCTTTGGAAATGACAGA 0.433000 27 16 0 0 0.000878237 0 0 DSP 1832 broad.mit.edu 37 6 7580162 7580162 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7580162C>T ENST00000379802.3 + 23 4080 c.3739C>T c.(3739-3741)Cga>Tga p.R1247* DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1247 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) AAGGGAAAATCGAGATCTGAA 0.443000 22 54 0 0 0.00229938 0 0 ABCG1 9619 broad.mit.edu 37 21 43710228 43710228 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43710228G>A ENST00000398437.1 + 12 1915 c.1767G>A c.(1765-1767)ggG>ggA p.G589G ABCG1_ENST00000398457.2_Silent_p.G433G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.G442G|ABCG1_ENST00000340588.4_Silent_p.G551G|ABCG1_ENST00000347800.2_Silent_p.G428G|ABCG1_ENST00000361802.2_Silent_p.G443G|ABCG1_ENST00000398449.3_Silent_p.G431G P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 443 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TGTACTTGGGGATCGGGAACG 0.572000 27 63 0 0 0.00127121 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560087 44560087 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:44560087C>T ENST00000332567.4 - 1 1901 c.1549G>A c.(1549-1551)Ggc>Agc p.G517S KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 517 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCCTGGAGCCCGAGTACACC 0.617000 34 91 0 0 0.00111076 0 0 IVL 3713 broad.mit.edu 37 1 152882513 152882513 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152882513G>A ENST00000368764.3 + 2 304 c.240G>A c.(238-240)aaG>aaA p.K80K IVL_ENST00000392667.2_Intron P07476 INVO_HUMAN involucrin 80 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) aacagcagaaggagccacagg 0.522000 11 34 0 0 0.000673444 0 0 EPHA6 285220 broad.mit.edu 37 3 96533487 96533487 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:96533487C>T ENST00000389672.5 + 1 58 c.20C>T c.(19-21)cCa>cTa p.P7L EPHA6_ENST00000470610.2_Missense_Mutation_p.P7L NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 0 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCCTCGCCTCCAGCCGCGAGG 0.697000 8 23 0 0 0.000673444 0 0 VCAM1 7412 broad.mit.edu 37 1 101197031 101197031 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:101197031C>T ENST00000294728.2 + 6 1583 c.1482C>T c.(1480-1482)ttC>ttT p.F494F VCAM1_ENST00000370119.4_Silent_p.F432F|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Silent_p.F402F NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 494 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ACATGGAATTCGAACCCAAAC 0.378000 26 60 0 0 0.00209593 0 0 ZNF536 9745 broad.mit.edu 37 19 30934939 30934939 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:30934939C>T ENST00000355537.3 + 2 617 c.470C>T c.(469-471)cCc>cTc p.P157L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 157 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) GGCGAGAAGCCCTTCAAGTGC 0.652000 5 24 0 0 0.00116845 0 0 KEL 3792 broad.mit.edu 37 7 142643326 142643326 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142643326G>A ENST00000355265.2 - 11 1756 c.1282C>T c.(1282-1284)Cgt>Tgt p.R428C KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 428 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAGGCCTCACGAACAAACAAA 0.592000 10 27 0 0 0.000978159 0 0 PTPRB 5787 broad.mit.edu 37 12 70988436 70988436 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:70988436C>T ENST00000334414.6 - 6 1371 c.1327G>A c.(1327-1329)Ggt>Agt p.G443S PTPRB_ENST00000451516.2_Missense_Mutation_p.G225S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G442S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G225S|PTPRB_ENST00000261266.5_Missense_Mutation_p.G225S|PTPRB_ENST00000550358.1_Missense_Mutation_p.G443S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G225S|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 225 Fibronectin type-III 5. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCCCAGAACCATGGGACCAG 0.438000 18 40 0 0 0.00188189 0 0 DSC3 1825 broad.mit.edu 37 18 28574293 28574293 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:28574293C>T ENST00000360428.4 - 16 2619 c.2539G>A c.(2539-2541)Gat>Aat p.D847N DSC3_ENST00000434452.1_3'UTR NM_001941.3 NP_001932.2 Q14574 DSC3_HUMAN desmocollin 3 847 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) AGGACATAATCTTGGGATGGC 0.358000 21 42 0 0 0.00229938 0 0 CTU1 90353 broad.mit.edu 37 19 51602353 51602353 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:51602353G>A ENST00000421832.2 - 3 596 c.552C>T c.(550-552)ttC>ttT p.F184F NM_145232.3 NP_660275.2 Q7Z7A3 CTU1_HUMAN cytosolic thiouridylase subunit 1 184 tRNA thio-modification|tRNA wobble uridine modification cytosol ATP binding|protein binding|transferase activity|tRNA binding large_intestine(2)|lung(1)|urinary_tract(1) 4 cgccccgTAGGAAGTTCATGA 0.766000 4 15 0 0 0.00024832 0 0 TMIGD2 126259 broad.mit.edu 37 19 4298254 4298254 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:4298254C>T ENST00000301272.2 - 2 180 c.135G>A c.(133-135)caG>caA p.Q45Q TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Silent_p.Q45Q|TMIGD2_ENST00000600114.1_Intron NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 45 Ig-like. 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) CCTGGTCCACCTGGCAGACCA 0.632000 9 15 0 0 0.000274275 0 0 KAT6A 7994 broad.mit.edu 37 8 41790402 41790402 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:41790402G>A ENST00000396930.3 - 18 5879 c.5336C>T c.(5335-5337)tCc>tTc p.S1779F KAT6A_ENST00000265713.2_Missense_Mutation_p.S1779F|KAT6A_ENST00000406337.1_Missense_Mutation_p.S1779F NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1779 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 GGTTGCATAGGAAGTCACAGC 0.537000 46 115 0 0 0.000781405 0 0 BAI3 577 broad.mit.edu 37 6 69348689 69348689 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:69348689C>T ENST00000370598.1 + 3 943 c.122C>T c.(121-123)tCg>tTg p.S41L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 41 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTTATGGATCGTATTCTGTA 0.368000 20 43 0 0 0.00188189 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101929 82101929 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:82101929G>A ENST00000199936.4 + 2 613 c.420G>A c.(418-420)acG>acA p.T140T RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 140 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) TGGACATCACGAAGCCAGTGC 0.537000 4 18 0 0 0.00024832 0 0 CCBE1 147372 broad.mit.edu 37 18 57103238 57103238 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:57103238G>A ENST00000439986.4 - 11 1160 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S CCBE1_ENST00000398179.2_Missense_Mutation_p.P104S NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 375 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) GGGTAGCTGGGAAATTCCTGA 0.537000 39 99 0 0 0.00111076 0 0 TRPM2 7226 broad.mit.edu 37 21 45861640 45861640 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:45861640C>T ENST00000397928.1 + 32 4897 c.4452C>T c.(4450-4452)ctC>ctT p.L1484L TRPM2_ENST00000397932.2_Silent_p.L1534L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.L1430L|TRPM2_ENST00000300482.5_Silent_p.L1484L NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1484 Nudix hydrolase. integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCATCCCACTCTATGCGAACC 0.642000 13 25 0 0 0.000308642 0 0 BTN1A1 696 broad.mit.edu 37 6 26508836 26508836 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:26508836G>A ENST00000244513.6 + 7 1081 c.1015G>A c.(1015-1017)Gag>Aag p.E339K NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 339 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TGAGAAAACAGAGAGATTTGA 0.517000 37 163 0 0 0.000814825 0 0 DCC 1630 broad.mit.edu 37 18 50432551 50432551 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:50432551C>T ENST00000442544.2 + 3 1166 c.550C>T c.(550-552)Cca>Tca p.P184S DCC_ENST00000412726.1_Missense_Mutation_p.P32S NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 184 Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GACTCCAATCCCAGGTGACTC 0.542000 17 30 0 0 0.000422831 0 0 DHX9 1660 broad.mit.edu 37 1 182856422 182856422 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:182856422C>T ENST00000367549.3 + 28 3776 c.3666C>T c.(3664-3666)tcC>tcT p.S1222S DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1222 NTD. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GAGGAGTTTCCCGAGGTGGCT 0.587000 21 40 0 0 0.00278032 0 0 CACNA1B 774 broad.mit.edu 37 9 140995575 140995575 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:140995575G>A ENST00000371365.2 + 4 379 c.334G>A c.(334-336)Gat>Aat p.D112N CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1748 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCATTATAAGGATATGTACAG 0.527000 4 30 0 0 0.000602214 0 0 GBP3 2635 broad.mit.edu 37 1 89476671 89476671 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:89476671C>T ENST00000370481.4 - 8 1498 c.1278G>A c.(1276-1278)tcG>tcA p.S426S NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 426 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) CCCCTGGTTTCGAATAAATTC 0.413000 69 262 0 0 0.000781405 0 0 RGPD4 285190 broad.mit.edu 37 2 108487530 108487530 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:108487530G>A ENST00000408999.3 + 20 3147 c.3070G>A c.(3070-3072)Gat>Aat p.D1024N RGPD4_ENST00000354986.4_Missense_Mutation_p.D1024N NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1024 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CTTTGAGAAAGATGATGATGC 0.398000 109 222 0 0 0.000781405 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509196 106509196 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:106509196G>A ENST00000359195.3 + 2 1500 c.1190G>A c.(1189-1191)aGg>aAg p.R397K PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397K NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 397 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 CTTTGCCAAAGGAGAACCAGC 0.502000 12 43 0 0 0.000308642 0 0 MAMLD1 10046 broad.mit.edu 37 X 149613849 149613849 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:149613849C>T ENST00000370401.2 + 2 377 c.67C>T c.(67-69)Cgt>Tgt p.R23C MAMLD1_ENST00000426613.2_Missense_Mutation_p.R23C|MAMLD1_ENST00000432680.2_Missense_Mutation_p.R23C|MAMLD1_ENST00000262858.5_Missense_Mutation_p.R23C|MAMLD1_ENST00000468306.1_Intron Q13495 MAMD1_HUMAN mastermind-like domain containing 1 23 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGGAAATCGTCAGGAGCC 0.463000 10 19 0 0 0.000978159 0 0 NRSN1 140767 broad.mit.edu 37 6 24145875 24145875 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:24145875G>A ENST00000378491.4 + 4 590 c.289G>A c.(289-291)Gat>Aat p.D97N NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 97 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 TGGCGAAGCCGATTTTGTGGT 0.507000 18 69 0 0 0.00074312 0 0 SLC27A2 11001 broad.mit.edu 37 15 50528280 50528280 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:50528280C>T ENST00000267842.5 + 10 2082 c.1850C>T c.(1849-1851)aCc>aTc p.T617I SLC27A2_ENST00000544960.1_Missense_Mutation_p.T382I|SLC27A2_ENST00000380902.4_Missense_Mutation_p.T564I NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 617 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AGTGCTAAAACCCTGAAACTC 0.378000 23 26 0 0 0.00127121 0 0 MTFR1 9650 broad.mit.edu 37 8 66619433 66619433 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:66619433C>T ENST00000262146.4 + 6 832 c.706C>T c.(706-708)Cca>Tca p.P236S MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.P203S NM_014637.3 NP_055452.3 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 236 mitochondrion|plasma membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1) 11 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) ACCTGAAATGCCAAATATGCT 0.388000 18 55 0 0 0.000958276 0 0 SPINK9 643394 broad.mit.edu 37 5 147716009 147716009 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:147716009A>G ENST00000511717.2 + 3 413 c.143A>G c.(142-144)aAa>aGa p.K48R RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.K27R Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 27 Kazal-like. Reactive bond (By similarity). extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACAGACGAAACAGATGGTC 0.299000 34 88 0 0 0.00128727 0 0 DNAH17 8632 broad.mit.edu 37 17 76457748 76457748 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:76457748G>A ENST00000389840.5 - 58 9299 c.9175C>T c.(9175-9177)Ctc>Ttc p.L3059F DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.L3068F 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) TTCTGCTTGAGCTCAGCCTCC 0.567000 6 10 0 0 0.00198382 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6422912 6422912 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6422912C>T ENST00000449001.2 + 2 654 c.160C>T c.(160-162)Cat>Tat p.H54Y PLEKHG6_ENST00000536531.1_Missense_Mutation_p.H86Y|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.H86Y|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.H86Y NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 86 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GCACGGGGGCCATGTGGGGGC 0.637000 16 33 0 0 0.00188189 0 0 TIMD4 91937 broad.mit.edu 37 5 156381622 156381622 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:156381622G>A ENST00000274532.2 - 2 260 c.204C>T c.(202-204)ctC>ctT p.L68L TIMD4_ENST00000407087.3_Silent_p.L68L NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 68 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) CAGTGCGGATGAGCGCCTCCT 0.527000 125 328 0 0 0.000781405 0 0 NLRC5 84166 broad.mit.edu 37 16 57054867 57054867 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:57054867G>A ENST00000436936.1 + 3 468 c.243G>A c.(241-243)gaG>gaA p.E81E NLRC5_ENST00000539144.1_Silent_p.E81E|NLRC5_ENST00000262510.6_Silent_p.E81E|NLRC5_ENST00000308149.7_Silent_p.E81E Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 81 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCAGCTGGAGGTGCCTCTGG 0.552000 8 19 0 0 0.000274275 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149099 142149099 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142149099G>A ENST00000390372.3 - 0 178 CCCTGACCCAGGACCTGTTGG 0.498000 17 43 0 0 0.00074312 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800571 185800571 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:185800571G>A ENST00000302277.6 + 4 1042 c.448G>A c.(448-450)Gaa>Aaa p.E150K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 150 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 AAACTGTAATGAAATTTCCCA 0.373000 14 46 0 0 0.00244969 0 0 OR56A3 390083 broad.mit.edu 37 11 5969065 5969065 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:5969065C>T ENST00000329564.6 + 1 496 c.489C>T c.(487-489)atC>atT p.I163I NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCCCATCCCCATCCTTT 0.443000 24 56 0 0 0.00278032 0 0 HTRA1 5654 broad.mit.edu 37 10 124271522 124271522 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124271522C>T ENST00000368984.3 + 8 1343 c.1215C>T c.(1213-1215)ttC>ttT p.F405F NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 405 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACCGGGACTTCCCAGACGTGA 0.483000 23 26 0 0 0.00106085 0 0 CCDC88B 283234 broad.mit.edu 37 11 64108111 64108111 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:64108111G>A ENST00000356786.5 + 2 137 c.93G>A c.(91-93)gcG>gcA p.A31A CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 31 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCggggaggcggaggactcgg 0.682000 20 20 0 0 0.00047179 0 0 CES5A 221223 broad.mit.edu 37 16 55880590 55880590 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:55880590G>A ENST00000521992.1 - 14 1733 c.1588C>T c.(1588-1590)Cct>Tct p.P530S CES5A_ENST00000319165.9_Missense_Mutation_p.P451S|CES5A_ENST00000290567.9_Missense_Mutation_p.P501S|CES5A_ENST00000518005.1_Missense_Mutation_p.P395S|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Missense_Mutation_p.P471S NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 501 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 TTCCCATTAGGATTCCTAGAA 0.542000 17 87 0 0 0.000422831 0 0 CD177 57126 broad.mit.edu 37 19 43866475 43866475 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:43866475C>T ENST00000378009.4 + 0 1478 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) CCTGCTAACTCTATTACCCCC 0.592000 4 7 0 0 0.00024832 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569483 76569483 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:76569483C>T ENST00000307431.8 + 19 3179 c.2794C>T c.(2794-2796)Cgg>Tgg p.R932W CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R860W|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R884W|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R936W NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 933 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGGCTGCATTCGGTCTCTGCA 0.493000 22 38 0 0 0.00047179 0 0 SDPR 8436 broad.mit.edu 37 2 192701434 192701434 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:192701434C>T ENST00000304141.4 - 2 822 c.493G>A c.(493-495)Gag>Aag p.E165K NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 165 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCAGGGATCTCATTTTCCTCC 0.468000 6 12 0 0 0.00198382 0 0 TNS4 84951 broad.mit.edu 37 17 38652320 38652320 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:38652320G>A ENST00000254051.6 - 2 516 c.358C>T c.(358-360)Ccc>Tcc p.P120S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 120 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GTCCCTGGGGGAAGCAGCTGG 0.577000 27 82 0 0 0.00106085 0 0 TTN 7273 broad.mit.edu 37 2 179549655 179549655 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179549655C>T ENST00000589042.1 - 130 32756 c.32532G>A c.(32530-32532)aaG>aaA p.K10844K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.K10527K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.K9600K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10527 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) GCACCTTTTCCTTTTTAGGAA 0.318000 8 23 0 0 0.000274275 0 0 OR13C3 138803 broad.mit.edu 37 9 107298917 107298917 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107298917G>A ENST00000374781.2 - 1 220 c.178C>T c.(178-180)Ctc>Ttc p.L60F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 60 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 ACTAGAATGAGAGCAAAGTAA 0.383000 26 40 0 0 0.00209593 0 0 CD164L2 388611 broad.mit.edu 37 1 27706566 27706566 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:27706566C>T ENST00000374027.3 - 5 556 c.493G>A c.(493-495)Gcc>Acc p.A165T CD164L2_ENST00000374030.1_Missense_Mutation_p.A165T NM_207397.2 NP_997280.1 Q6UWJ8 C16L2_HUMAN CD164 sialomucin-like 2 165 integral to membrane endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CTGTCCTTGGCCTTGAGGAAG 0.602000 53 60 0 0 0.000781405 0 0 MYH8 4626 broad.mit.edu 37 17 10297710 10297710 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10297710C>T ENST00000403437.2 - 35 5116 c.5022G>A c.(5020-5022)ctG>ctA p.L1674L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1674 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCACAATTGCCAGCTGTTCCT 0.542000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 12 17 0 0 0.000978159 0 0 ITGAL 3683 broad.mit.edu 37 16 30495274 30495274 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:30495274C>T ENST00000356798.6 + 8 1029 c.849C>T c.(847-849)atC>atT p.I283I ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I200I|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 283 VWFA. 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) TCCGCTACATCATCGGGGTAG 0.562000 44 87 0 0 0.000781405 0 0 MB21D2 151963 broad.mit.edu 37 3 192516332 192516332 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:192516332G>A ENST00000392452.2 - 2 1639 c.1319C>T c.(1318-1320)cCa>cTa p.P440L NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 440 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GTCAGACTGTGGAGAGGGGAT 0.582000 27 62 0 0 0.00209593 0 0 MBD5 55777 broad.mit.edu 37 2 149247566 149247566 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:149247566C>T ENST00000407073.1 + 12 4663 c.3666C>T c.(3664-3666)atC>atT p.I1222I MBD5_ENST00000404807.1_Silent_p.I1455I NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1222 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) CAGGCCATATCCACAGTAGTC 0.502000 24 61 0 0 0.00229938 0 0 CACNA1E 777 broad.mit.edu 37 1 181708310 181708310 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:181708310G>A ENST00000526775.1 + 24 3748 c.3583G>A c.(3583-3585)Gat>Aat p.D1195N CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1195N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D821N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1165N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1214N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1146N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1214N NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1214 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 GATCCTGCAGGATGGGTCCTA 0.498000 38 108 0 0 0.00148497 0 0 COBL 23242 broad.mit.edu 37 7 51097132 51097132 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:51097132G>A ENST00000395542.2 - 12 2091 c.1907C>T c.(1906-1908)tCg>tTg p.S636L COBL_ENST00000265136.7_Missense_Mutation_p.S554L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 554 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) AAACAACCCCGAATCCACAGG 0.532000 14 17 0 0 0.000308642 0 0 A2M 2 broad.mit.edu 37 12 9264772 9264772 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:9264772G>A ENST00000318602.7 - 4 773 c.466C>T c.(466-468)Cac>Tac p.H156Y NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 156 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TTCAGGGGGTGAAAGTTTTCA 0.418000 16 43 0 0 0.00121646 0 0 TRGC2 6967 broad.mit.edu 37 7 38289004 38289004 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:38289004G>A ENST00000436911.2 - 0 169 TCCCCTCCTGGGATCCCAGAA 0.418000 87 171 0 0 0.000781405 0 0 ZP2 7783 broad.mit.edu 37 16 21218165 21218165 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21218165G>A ENST00000574002.1 - 6 959 c.477C>T c.(475-477)ttC>ttT p.F159F ZP2_ENST00000219593.4_Silent_p.F159F|ZP2_ENST00000574091.1_Silent_p.F159F Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 159 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) TCACAGACATGAAATCCTTCT 0.493000 40 61 0 0 0.00170553 0 0 ZNF626 199777 broad.mit.edu 37 19 20828490 20828490 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:20828490C>T ENST00000601440.1 - 3 372 c.226_splice c.e3+1 p.V76_splice ZNF626_ENST00000291750.6_Splice_Site_p.V76_splice|CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TCACACCTACCTGAGGGTTTG 0.438000 18 48 0 0 0.00074312 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84683372 84683372 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:84683372C>T ENST00000286744.5 + 24 4276 c.4052C>T c.(4051-4053)tCc>tTc p.S1351F ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1351F NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1351 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TTCAATGGATCCCTGTTGTTG 0.438000 104 28 0 0 0.000781405 0 0 USO1 8615 broad.mit.edu 37 4 76714942 76714942 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:76714942C>A ENST00000538159.1 + 13 1346 c.1346C>A c.(1345-1347)gCg>gAg p.A449E USO1_ENST00000514213.2_Missense_Mutation_p.A432E O60763 USO1_HUMAN USO1 vesicle transport factor 447 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTGCCCATGCGTTGCAAGAA 0.453000 17 31 6.49762e-13 2.53542e-12 0.00074312 1 0 KIAA1549 57670 broad.mit.edu 37 7 138603310 138603310 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:138603310G>A ENST00000440172.1 - 2 1110 c.1062C>T c.(1060-1062)ttC>ttT p.F354F KIAA1549_ENST00000422774.1_Silent_p.F354F|KIAA1549_ENST00000242365.4_Silent_p.F304F NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 354 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GTGTCCTGCTGAATGCAAGGG 0.488000 O BRAF pilocytic astrocytoma 39 101 0 0 0.00148497 0 0 TNNT3 7140 broad.mit.edu 37 11 1956059 1956059 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:1956059G>A ENST00000381558.1 + 13 846 c.566_splice c.e13-1 p.R189_splice TNNT3_ENST00000381579.3_Splice_Site_p.R189_splice|TNNT3_ENST00000360603.3_Splice_Site_p.R191_splice|TNNT3_ENST00000446240.1_Splice_Site_p.R178_splice|TNNT3_ENST00000278317.6_Splice_Site_p.R197_splice|TNNT3_ENST00000381548.3_Splice_Site_p.R199_splice|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Splice_Site_p.R195_splice|TNNT3_ENST00000397301.1_Splice_Site_p.R208_splice|TNNT3_ENST00000381549.3_Splice_Site_p.R189_splice|TNNT3_ENST00000397304.2_Splice_Site_p.R178_splice|TNNT3_ENST00000381561.4_Splice_Site_p.R200_splice P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 208 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) TCTGCCCCAGGGACAAGGCCA 0.602000 48 114 0 0 0.000781405 0 0 MDGA1 266727 broad.mit.edu 37 6 37605941 37605941 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:37605941C>T ENST00000505425.1 - 16 2815 c.2816G>A c.(2815-2817)gGg>gAg p.G939E MDGA1_ENST00000434837.2_Intron|MDGA1_ENST00000297153.7_Intron Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 939 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 CGCACAGCTCCCTCCAGATTC 0.557000 5 14 0 0 0.00116845 0 0 MEGF8 1954 broad.mit.edu 37 19 42861645 42861645 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:42861645C>T ENST00000334370.4 + 27 5354 c.4719C>T c.(4717-4719)tcC>tcT p.S1573S MEGF8_ENST00000251268.6_Silent_p.S1640S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1640 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCGGTTACTCCCCGGAAAATG 0.667000 9 31 0 0 0.000673444 0 0 SPANXN3 139067 broad.mit.edu 37 X 142605203 142605203 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:142605203G>A ENST00000370503.2 - 1 100 c.17C>T c.(16-18)tCc>tTc p.S6F NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 6 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) ATTGGTGCTGGAAGTTGGCTG 0.453000 44 44 0 0 0.000781405 0 0 ASGR2 433 broad.mit.edu 37 17 7012104 7012104 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:7012104C>T ENST00000380952.2 - 3 492 c.228G>A c.(226-228)gtG>gtA p.V76V ASGR2_ENST00000254850.7_Silent_p.V57V|ASGR2_ENST00000446679.2_Silent_p.V57V|ASGR2_ENST00000355035.5_Silent_p.V76V NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 76 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GGGACCCAGTCACACAGATGA 0.637000 9 9 0 0 0.000442599 0 0 PLXDC2 84898 broad.mit.edu 37 10 20453483 20453483 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:20453483C>T ENST00000377252.3 + 7 1711 c.870C>T c.(868-870)atC>atT p.I290I PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.I241I NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 290 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCCACAGGATCCAACAAATTC 0.448000 17 21 0 0 0.000958276 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317550 103317550 + Missense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:103317550A>T ENST00000233969.2 + 8 1750 c.1608A>T c.(1606-1608)aaA>aaT p.K536N SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 536 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTGATGATAAATATCTGCGGA 0.294000 17 36 0 0 0.00074312 0 0 HIF3A 64344 broad.mit.edu 37 19 46842805 46842805 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:46842805C>T ENST00000339613.2 + 15 2023 c.1768C>T c.(1768-1770)Ccg>Tcg p.P590S AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.P644S|HIF3A_ENST00000244303.6_Missense_Mutation_p.P577S|HIF3A_ENST00000377670.4_Missense_Mutation_p.P646S Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ACTGCTCTCTCCGTACTCAGA 0.552000 24 69 0 0 0.00047179 0 0 TTC21A 199223 broad.mit.edu 37 3 39172499 39172499 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39172499C>T ENST00000301819.6 + 19 2676 c.2499C>T c.(2497-2499)tcC>tcT p.S833S TTC21A_ENST00000440121.1_Silent_p.S784S|TTC21A_ENST00000431162.2_Silent_p.S832S NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 832 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ACATCCCATCCATGATGAATG 0.433000 23 23 0 0 0.000720815 0 0 PFKFB4 5210 broad.mit.edu 37 3 48576723 48576723 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:48576723G>A ENST00000545984.1 - 5 452 c.407C>T c.(406-408)tCt>tTt p.S136F PFKFB4_ENST00000232375.3_Silent_p.I158I|PFKFB4_ENST00000541519.1_Silent_p.I124I|PFKFB4_ENST00000416568.1_Silent_p.I158I|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Silent_p.I147I|PFKFB4_ENST00000383734.2_Silent_p.I158I Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 0 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GATCCACACAGATGGACTCGA 0.567000 20 17 0 0 0.00047179 0 0 SLC26A9 115019 broad.mit.edu 37 1 205902149 205902149 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205902149G>A ENST00000367135.3 - 3 302 c.189C>T c.(187-189)ccC>ccT p.P63P SLC26A9_ENST00000340781.4_Silent_p.P63P|SLC26A9_ENST00000367134.2_Silent_p.P63P NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 63 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) TCTTGTACTTGGGGAGCCAGG 0.562000 20 41 0 0 0.00229938 0 0 SORCS3 22986 broad.mit.edu 37 10 106970983 106970983 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:106970983G>A ENST00000369701.3 + 17 2577 c.2350G>A c.(2350-2352)Ggt>Agt p.G784S SORCS3_ENST00000369699.4_Missense_Mutation_p.G70S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 784 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) CTGCAGCCTTGGTCAAAGCTA 0.473000 6 21 0 0 0.00198382 0 0 FAT4 79633 broad.mit.edu 37 4 126242698 126242698 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:126242698C>T ENST00000394329.3 + 1 5145 c.5132C>T c.(5131-5133)gCc>gTc p.A1711V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1711 Cadherin 16. 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 GATGTTTATGCCATAGAAAAA 0.398000 23 43 0 0 0.00278032 0 0 SCN10A 6336 broad.mit.edu 37 3 38793949 38793949 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:38793949G>A ENST00000449082.2 - 11 1515 c.1516C>T c.(1516-1518)Cat>Tat p.H506Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 506 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) GACCGGAAATGGAACACACTG 0.567000 7 12 0 0 0.000274275 0 0 MYO3A 53904 broad.mit.edu 37 10 26241088 26241088 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:26241088C>T ENST00000265944.5 + 3 215 c.49C>T c.(49-51)Cct>Tct p.P17S MYO3A_ENST00000376302.1_Missense_Mutation_p.P17S|MYO3A_ENST00000543632.1_Missense_Mutation_p.P17S|MYO3A_ENST00000376301.1_Missense_Mutation_p.P17S NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 17 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 CTTTCCTGATCCTTCTGATAC 0.333000 17 37 0 0 0.000422831 0 0 KCNB2 9312 broad.mit.edu 37 8 73849889 73849889 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:73849889C>T ENST00000523207.1 + 3 2887 c.2299C>T c.(2299-2301)Ccc>Tcc p.P767S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 767 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) GGGAGACAGACCCTTGCTGGG 0.562000 24 48 0 0 0.00047179 0 0 DUSP27 92235 broad.mit.edu 37 1 167097246 167097246 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:167097246G>T ENST00000361200.2 + 6 3044 c.2878G>T c.(2878-2880)Ggg>Tgg p.G960W DUSP27_ENST00000271385.5_Missense_Mutation_p.G960W|DUSP27_ENST00000443333.1_Missense_Mutation_p.G960W|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 960 Ser-rich. 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 AAGTTCCAGAGGGAAGTACAC 0.488000 10 26 7.48243e-07 2.90643e-06 0.000442599 1 0 MRGPRE 116534 broad.mit.edu 37 11 3249748 3249748 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:3249748G>A ENST00000389832.5 - 2 588 c.282C>T c.(280-282)ttC>ttT p.F94F AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.F93F Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 93 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTCTGCACGAAGCCCGGGA 0.662000 7 29 0 0 0.000157383 0 0 AVPR1B 553 broad.mit.edu 37 1 206225064 206225064 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:206225064C>T ENST00000367126.4 + 1 1089 c.624C>T c.(622-624)ttC>ttT p.F208F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 208 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.F208F(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCTATCTTCGTTCTGCCGG 0.612000 30 37 0 0 0.001512 0 0 MIR587 693172 broad.mit.edu 37 6 107231999 107231999 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:107231999C>T ENST00000384845.1 + 0 0 NR_030314.1 tctttctgcccctcctatgca 0.512000 14 36 0 0 0.000308642 0 0 SCARF1 8578 broad.mit.edu 37 17 1540267 1540267 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:1540267G>A ENST00000263071.4 - 9 1503 c.1454C>T c.(1453-1455)tCc>tTc p.S485F SCARF1_ENST00000571272.1_Missense_Mutation_p.S485F|SCARF1_ENST00000348987.3_Missense_Mutation_p.S399F NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 485 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGAGCTGAGGGAACGGCAGGG 0.657000 19 19 0 0 0.000958276 0 0 ZNF132 7691 broad.mit.edu 37 19 58945690 58945690 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:58945690G>A ENST00000254166.3 - 3 1521 c.1121C>T c.(1120-1122)cCt>cTt p.P374L NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 374 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GCACTCAAAAGGCCTTTCTCC 0.458000 13 50 0 0 0.000422831 0 0 WNK2 65268 broad.mit.edu 37 9 96051797 96051797 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:96051797C>T ENST00000297954.4 + 20 4872 c.4872C>T c.(4870-4872)ccC>ccT p.P1624P WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.P1587P|WNK2_ENST00000349097.3_Silent_p.P1236P|WNK2_ENST00000427277.2_Silent_p.P1199P Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1624 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 CCCTGGAGCCCCTGAGAGGGG 0.692000 6 14 0 0 0.00198382 0 0 TMEM71 137835 broad.mit.edu 37 8 133734323 133734323 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:133734323G>A ENST00000356838.3 - 7 800 c.658C>T c.(658-660)Ctg>Ttg p.L220L TMEM71_ENST00000377901.4_Silent_p.L176L|TMEM71_ENST00000523829.1_Silent_p.L239L NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 239 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) ACAGCAAGCAGGATTGCCTGA 0.348000 27 78 0 0 0.00127121 0 0 ROR2 4920 broad.mit.edu 37 9 94493352 94493352 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:94493352G>A ENST00000375708.3 - 7 1221 c.1023C>T c.(1021-1023)gcC>gcT p.A341A ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.A201A NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 341 Kringle. 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 GGTGCTGCAGGGCCCACGGCT 0.627000 42 36 0 0 0.000680045 0 0 NLRP7 199713 broad.mit.edu 37 19 55450931 55450931 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55450931G>A ENST00000446217.1 - 6 1742 c.1340C>T c.(1339-1341)gCc>gTc p.A447V NLRP7_ENST00000448121.2_Missense_Mutation_p.A419V|NLRP7_ENST00000592784.1_Missense_Mutation_p.A419V|NLRP7_ENST00000590030.1_Missense_Mutation_p.A419V|NLRP7_ENST00000588756.1_Missense_Mutation_p.A419V|NLRP7_ENST00000340844.2_Missense_Mutation_p.A419V|NLRP7_ENST00000328092.5_Missense_Mutation_p.A419V Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 419 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GCCCTGCGCGGCCAGGAGGCT 0.701000 9 19 0 0 0.000673444 0 0 SIK3 23387 broad.mit.edu 37 11 116728595 116728595 + Nonsense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:116728595C>A ENST00000375300.1 - 20 3447 c.3442G>T c.(3442-3444)Gaa>Taa p.E1148* SIK3_ENST00000542607.1_Nonsense_Mutation_p.E1030*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.E1088*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.E425*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.E929*|SIK3_ENST00000292055.4_Nonsense_Mutation_p.E1090*|SIK3_ENST00000488337.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 1090 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ATCCCCAATTCTTGGGCATGA 0.507000 121 142 3.16226e-57 1.23805e-56 0.000781405 1 0 MDGA1 266727 broad.mit.edu 37 6 37619992 37619992 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:37619992G>A ENST00000434837.2 - 7 2285 c.1107C>T c.(1105-1107)taC>taT p.Y369Y MDGA1_ENST00000505425.1_Silent_p.Y369Y|MDGA1_ENST00000297153.7_Silent_p.Y369Y NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 369 Ig-like 4. 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 TGAACCACTGGTAGGTCACCT 0.587000 23 80 0 0 0.00106085 0 0 DNAH8 1769 broad.mit.edu 37 6 38994366 38994366 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38994366G>A ENST00000359357.3 + 90 13362 c.13108G>A c.(13108-13110)Ggc>Agc p.G4370S DNAH8_ENST00000441566.1_Missense_Mutation_p.G4334S 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 TGCCCACAAAGGCTGGGCACT 0.493000 20 39 0 0 0.00188189 0 0 CSMD1 64478 broad.mit.edu 37 8 3216752 3216752 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:3216752G>A ENST00000602557.1 - 22 3784 c.3229C>T c.(3229-3231)Cgt>Tgt p.R1077C CSMD1_ENST00000400186.3_Missense_Mutation_p.R1077C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000520002.1_Missense_Mutation_p.R1077C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1076C|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1076C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1077 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTCTAAACGATATCCCAGG 0.557000 17 48 0 0 0.00121646 0 0 TLL1 7092 broad.mit.edu 37 4 166978381 166978381 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:166978381G>A ENST00000061240.2 + 14 2413 c.1766G>A c.(1765-1767)cGa>cAa p.R589Q TLL1_ENST00000507499.1_Missense_Mutation_p.R612Q NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 589 EGF-like 1; calcium-binding (Potential). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGTGAGCAGCGATGTCTGAAC 0.478000 24 48 0 0 0.000720815 0 0 TUFM 7284 broad.mit.edu 37 16 28855798 28855798 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28855798G>A ENST00000313511.3 - 6 897 c.759C>T c.(757-759)ccC>ccT p.P253P NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 250 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 GGTCCCGGGCGGGCACTGGGA 0.597000 10 24 0 0 0.000673444 0 0 C4orf22 255119 broad.mit.edu 37 4 81504291 81504291 + Missense_Mutation SNP C C T rs142731425 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:81504291C>T ENST00000358105.3 + 3 336 c.287C>T c.(286-288)aCg>aTg p.T96M C4orf22_ENST00000508675.1_Missense_Mutation_p.T96M|C4orf22_ENST00000512931.1_3'UTR NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 96 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 AATTTTCTGACGGCCCTGGCA 0.353000 33 57 0 0 0.00128727 0 0 FLT4 2324 broad.mit.edu 37 5 180048217 180048217 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:180048217C>T ENST00000261937.6 - 14 2134 c.2056G>A c.(2056-2058)Gac>Aac p.D686N FLT4_ENST00000502649.1_Missense_Mutation_p.D686N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D686N NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 686 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ACCAGGAGGTCGGTCAAGTTC 0.637000 16 28 0 0 0.000958276 0 0 WNT8A 7478 broad.mit.edu 37 5 137419860 137419860 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:137419860C>T ENST00000506684.1 + 1 280 c.44C>T c.(43-45)cCa>cTa p.P15L WNT8A_ENST00000398754.1_Intron Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 0 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AGTCCTTTCCCAACCCTCACT 0.532000 16 39 0 0 0.000422831 0 0 OR6C4 341418 broad.mit.edu 37 12 55945239 55945239 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:55945239C>T ENST00000394256.2 + 1 257 c.229C>T c.(229-231)Ccc>Tcc p.P77S RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CATTTTTATTCCCAGATTTCT 0.418000 36 84 0 0 0.00058488 0 0 TUFM 7284 broad.mit.edu 37 16 28855799 28855799 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:28855799G>A ENST00000313511.3 - 6 896 c.758C>T c.(757-759)cCc>cTc p.P253L NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 250 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 GTCCCGGGCGGGCACTGGGAT 0.597000 10 24 0 0 0.000673444 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802718 185802718 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:185802718C>T ENST00000302277.6 + 4 3189 c.2595C>T c.(2593-2595)atC>atT p.I865I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 865 intracellular zinc ion binding p.I865I(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTGCAAAAATCGAAAGGAACT 0.358000 20 50 0 0 0.00188189 0 0 CCDC138 165055 broad.mit.edu 37 2 109421374 109421374 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:109421374C>T ENST00000295124.4 + 7 825 c.765C>T c.(763-765)acC>acT p.T255T CCDC138_ENST00000412964.2_Silent_p.T255T NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 255 p.T255T(1) endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 AACACTTAACCGAAGTTCTTA 0.353000 32 83 0 0 0.00283554 0 0 ENTHD1 150350 broad.mit.edu 37 22 40140134 40140134 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:40140134G>A ENST00000325157.6 - 7 1624 c.1374C>T c.(1372-1374)tcC>tcT p.S458S NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 458 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CATCTTTAAAGGAGGTAGAAG 0.468000 9 28 0 0 0.000442599 0 0 MIR520D 574482 broad.mit.edu 37 19 54223374 54223374 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:54223374G>A ENST00000385002.1 + 0 25 NR_030204.1 TCTACAAAGGGAAGCCCTTTC 0.403000 62 142 0 0 0.000781405 0 0 EPHA7 2045 broad.mit.edu 37 6 94066711 94066711 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:94066711C>T ENST00000369303.4 - 5 1232 c.1048G>A c.(1048-1050)Gaa>Aaa p.E350K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 350 Fibronectin type-III 1. 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) GGACTCCATTCCAAACTTACT 0.453000 23 54 0 0 0.000720815 0 0 GPR162 27239 broad.mit.edu 37 12 6936219 6936219 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:6936219C>T ENST00000311268.3 + 5 2404 c.1617C>T c.(1615-1617)tcC>tcT p.S539S GPR162_ENST00000428545.2_Silent_p.S255S|GPR162_ENST00000382315.3_Silent_p.S235S NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 539 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GCCGACTCTCCCTTGGGTCCC 0.647000 22 74 0 0 0.00106085 0 0 DYSF 8291 broad.mit.edu 37 2 71840537 71840537 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:71840537C>T ENST00000258104.3 + 40 4684 c.4407C>T c.(4405-4407)atC>atT p.I1469I DYSF_ENST00000409582.3_Silent_p.I1486I|DYSF_ENST00000409762.1_Silent_p.I1486I|DYSF_ENST00000409366.1_Silent_p.I1470I|DYSF_ENST00000394120.2_Silent_p.I1470I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.I1469I|DYSF_ENST00000413539.2_Silent_p.I1500I|DYSF_ENST00000409651.1_Silent_p.I1501I|DYSF_ENST00000410041.1_Silent_p.I1487I|DYSF_ENST00000409744.1_Silent_p.I1456I|DYSF_ENST00000410020.3_Silent_p.I1487I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1469 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 TCATCCCCATCCAGGTAGGAT 0.582000 9 17 0 0 0.000673444 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181746 47181746 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:47181746G>A ENST00000447411.1 - 4 485 c.279C>T c.(277-279)atC>atT p.I93I SLC38A4_ENST00000266579.4_Silent_p.I93I NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 93 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) ACAAGCCCAGGATCCCACTGC 0.428000 19 42 0 0 0.00188189 0 0 OMA1 115209 broad.mit.edu 37 1 59002382 59002382 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:59002382G>A ENST00000371226.3 - 3 645 c.532C>T c.(532-534)Cct>Tct p.P178S OMA1_ENST00000358603.2_Missense_Mutation_p.P178S|OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 178 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TTCTTGTTAGGAGGAAGTGCC 0.348000 30 106 0 0 0.00058488 0 0 MBD3 53615 broad.mit.edu 37 19 1581157 1581157 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:1581157G>A ENST00000590550.2 - 4 816 c.443C>T c.(442-444)cCc>cTc p.P148L MBD3_ENST00000434436.3_Missense_Mutation_p.P204L|MBD3_ENST00000585967.1_Intron|MBD3_ENST00000156825.1_Missense_Mutation_p.P204L|MBD3_ENST00000592012.1_Missense_Mutation_p.P172L O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 204 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCATACGCCGGGGTTCTTCTC 0.657000 12 19 0 0 0.00136819 0 0 COPS4 51138 broad.mit.edu 37 4 83970440 83970440 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:83970440C>T ENST00000509093.1 + 3 1054 c.276C>T c.(274-276)atC>atT p.I92I COPS4_ENST00000503682.1_Silent_p.I92I|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000264389.2_Silent_p.I92I|COPS4_ENST00000511653.1_Silent_p.I92I NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 92 cullin deneddylation cytoplasm|signalosome protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) TGGAAAAGATCCAGCCTAGAG 0.393000 21 44 0 0 0.00229938 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100004369 100004369 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100004369G>T ENST00000398027.2 - 12 1365 c.1118C>A c.(1117-1119)cCa>cAa p.P373Q ZCWPW1_ENST00000324725.6_Missense_Mutation_p.P253Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.P374Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.P253Q NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 373 PWWP. zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CATGTTGACTGGGATCCATGC 0.448000 20 60 1.50039e-11 5.85221e-11 0.00188189 1 0 UBXN7 26043 broad.mit.edu 37 3 196096312 196096312 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:196096312G>A ENST00000296328.4 - 7 760 c.686C>T c.(685-687)tCc>tTc p.S229F UBXN7_ENST00000535858.1_Missense_Mutation_p.S81F|UBXN7_ENST00000428095.1_Missense_Mutation_p.S67F NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 229 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTCCAATATGGAAACATAGGG 0.333000 13 43 0 0 0.000308642 0 0 TTN 7273 broad.mit.edu 37 2 179645883 179645883 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179645883C>T ENST00000589042.1 - 21 3712 c.3488G>A c.(3487-3489)gGa>gAa p.G1163E TTN_ENST00000591111.1_Missense_Mutation_p.G1163E|TTN_ENST00000342992.6_Missense_Mutation_p.G1163E|TTN_ENST00000359218.5_Missense_Mutation_p.G1117E|TTN_ENST00000360870.5_Missense_Mutation_p.G1163E|TTN_ENST00000460472.2_Missense_Mutation_p.G1117E|TTN_ENST00000342175.6_Missense_Mutation_p.G1117E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1163 Ig-like 4. 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) AGAAGTTTCTCCATGCTTATT 0.408000 12 58 0 0 0.000978159 0 0 TSPAN17 26262 broad.mit.edu 37 5 176079893 176079893 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176079893C>T ENST00000298564.10 + 2 386 c.237C>T c.(235-237)ctC>ctT p.L79L TSPAN17_ENST00000405525.2_Silent_p.L145L|TSPAN17_ENST00000508164.1_Silent_p.L145L|TSPAN17_ENST00000503045.1_Silent_p.L122L|TSPAN17_ENST00000515708.1_Silent_p.L145L|TSPAN17_ENST00000310032.8_Silent_p.L145L Q96FV3 TSN17_HUMAN tetraspanin 17 145 integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 13 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAGAACCTCATTGACTTTG 0.537000 40 110 0 0 0.000781405 0 0 DNER 92737 broad.mit.edu 37 2 230282935 230282935 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:230282935G>A ENST00000341772.4 - 9 1632 c.1498C>T c.(1498-1500)Ctc>Ttc p.L500F NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 500 EGF-like 7. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCACAGTAGAGGCCATGGTAA 0.552000 12 31 0 0 0.00185496 0 0 EPPK1 83481 broad.mit.edu 37 8 144941947 144941947 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:144941947C>T ENST00000525985.1 - 2 5546 c.5475G>A c.(5473-5475)gaG>gaA p.E1825E P58107 EPIPL_HUMAN epiplakin 1 1825 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) CCAGCAATTTCTCCAGGCCCC 0.547000 56 103 0 0 0.000781405 0 0 COL11A2 1302 broad.mit.edu 37 6 33135606 33135606 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:33135606G>A ENST00000341947.2 - 55 4211 c.3984C>T c.(3982-3984)tcC>tcT p.S1328S COL11A2_ENST00000374713.1_Silent_p.S1281S|COL11A2_ENST00000361917.1_Silent_p.S1221S|COL11A2_ENST00000374712.1_Silent_p.S1247S|COL11A2_ENST00000357486.1_Silent_p.S1307S|COL11A2_ENST00000374714.1_Silent_p.S1302S|COL11A2_ENST00000374708.4_Silent_p.S1242S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.S1268S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1328 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCGCCCCTCGGAACCAGGCG 0.652000 9 36 0 0 0.000978159 0 0 IZUMO2 126123 broad.mit.edu 37 19 50655885 50655885 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50655885C>T ENST00000293405.3 - 7 647 c.647G>A c.(646-648)cGa>cAa p.R216Q NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 216 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 CAGGAGTTTTCGGTTTTGTCT 0.403000 87 193 0 0 0.000781405 0 0 NIPBL 25836 broad.mit.edu 37 5 37048731 37048731 + Silent SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:37048731C>A ENST00000282516.8 + 39 7216 c.6717C>A c.(6715-6717)acC>acA p.T2239T NIPBL_ENST00000448238.2_Silent_p.T2239T NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2239 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACCTCCAGACCTACCTACAAG 0.294000 6 54 0.00116845 0.0045107 0.00116845 1 0 DBX2 440097 broad.mit.edu 37 12 45417608 45417608 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:45417608C>T ENST00000332700.6 - 3 740 c.569G>A c.(568-570)aGa>aAa p.R190K NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 190 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) AAAGACAGCTCTTCTTAAAAT 0.443000 37 74 0 0 0.000814825 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 41 45 0 0 0.000680045 0 0 TDRD1 56165 broad.mit.edu 37 10 115985903 115985903 + Missense_Mutation SNP C C T rs141065182 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:115985903C>T ENST00000251864.2 + 22 3256 c.3103C>T c.(3103-3105)Ctt>Ttt p.L1035F TDRD1_ENST00000369282.1_Missense_Mutation_p.L1035F|TDRD1_ENST00000422662.1_Missense_Mutation_p.L639F|TDRD1_ENST00000369280.1_Missense_Mutation_p.L1035F|TDRD1_ENST00000369281.2_Missense_Mutation_p.L921F NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1035 Tudor 4. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) AACCCTGCCTCTTTGCAGAGT 0.438000 11 28 0 0 0.000978159 0 0 IL1R1 3554 broad.mit.edu 37 2 102781300 102781300 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:102781300C>T ENST00000410023.1 + 4 446 c.128C>T c.(127-129)cCc>cTc p.P43L IL1R1_ENST00000424272.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409589.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409288.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409929.1_Missense_Mutation_p.P43L|IL1R1_ENST00000409329.1_Missense_Mutation_p.P43L|IL1R1_ENST00000233946.3_Missense_Mutation_p.P43L P14778 IL1R1_HUMAN interleukin 1 receptor, type I 43 Ig-like C2-type 1. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GATGTTCGTCCCTGTCCTCTT 0.368000 18 39 0 0 0.00188189 0 0 ALK 238 broad.mit.edu 37 2 29462669 29462669 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:29462669C>T ENST00000389048.3 - 13 3138 c.2232G>A c.(2230-2232)ggG>ggA p.G744G ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 744 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) TCCCGCCTTTCCCGCCAGCAG 0.592000 """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 10 28 0 0 0.000978159 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558458 106558458 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:106558458G>A ENST00000526355.1 - 8 2484 c.2016C>T c.(2014-2016)ttC>ttT p.F672F GUCY1A2_ENST00000282249.2_Silent_p.F703F|GUCY1A2_ENST00000347596.2_Silent_p.F693F NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 672 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAATGAATGTGAAACTTTCTT 0.408000 34 43 0 0 0.00058488 0 0 DMBT1 1755 broad.mit.edu 37 10 124336154 124336154 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:124336154G>A ENST00000338354.3 + 7 629 c.523G>A c.(523-525)Gaa>Aaa p.E175K DMBT1_ENST00000368956.2_Missense_Mutation_p.E175K|DMBT1_ENST00000359586.6_Missense_Mutation_p.E175K|DMBT1_ENST00000368955.3_Missense_Mutation_p.E175K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E175K|DMBT1_ENST00000330163.4_Missense_Mutation_p.E175K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E175K Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 175 SRCR 1. 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) CTCAGGACACGAATCCTACCT 0.582000 32 42 0 0 0.000692331 0 0 KCNA6 3742 broad.mit.edu 37 12 4919936 4919936 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:4919936G>A ENST00000433855.1 + 1 1595 c.729G>A c.(727-729)atG>atA p.M243I KCNA6_ENST00000280684.3_Missense_Mutation_p.M243I NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 243 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CTGGGGAAATGGGGACCGGGG 0.547000 HNSCC(72;0.22) 27 51 0 0 0.00178596 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692797 23692797 + Missense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:23692797C>A ENST00000397312.2 - 7 1112 c.838G>T c.(838-840)Gtg>Ttg p.V280L ELAVL2_ENST00000544538.1_Missense_Mutation_p.V280L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V280L|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V267L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.V310L NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 280 RRM 3. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGGTTGTACACAAATATACAC 0.468000 25 35 2.79863e-10 1.09114e-09 0.000720815 1 0 RGS3 5998 broad.mit.edu 37 9 116269582 116269582 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:116269582G>A ENST00000374140.2 + 14 1310 c.1101G>A c.(1099-1101)gaG>gaA p.E367E RGS3_ENST00000317613.6_Silent_p.E255E|RGS3_ENST00000394646.3_Silent_p.E86E|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Silent_p.E367E|RGS3_ENST00000343817.5_Silent_p.E86E NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 367 PDZ. 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 GCCCCAGTGAGATCATCCTAC 0.627000 13 37 0 0 0.000308642 0 0 PAPOLA 10914 broad.mit.edu 37 14 97022680 97022680 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:97022680C>T ENST00000216277.8 + 19 2154 c.1934C>T c.(1933-1935)cCt>cTt p.P645L PAPOLA_ENST00000392990.2_Missense_Mutation_p.P645L NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 645 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ATACCTACTCCTATAGTAGGA 0.403000 38 49 0 0 0.00170553 0 0 GRM3 2913 broad.mit.edu 37 7 86416064 86416064 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86416064G>A ENST00000361669.2 + 3 2055 c.956G>A c.(955-957)gGc>gAc p.G319D GRM3_ENST00000394720.2_Missense_Mutation_p.G317D|GRM3_ENST00000439827.1_Missense_Mutation_p.G319D|GRM3_ENST00000536043.1_Missense_Mutation_p.G191D|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 319 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GTGGCCTACGGCGCCATCACC 0.677000 12 20 0 0 0.00136819 0 0 PRX 57716 broad.mit.edu 37 19 40901188 40901188 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:40901188G>A ENST00000324001.7 - 7 3341 c.3071C>T c.(3070-3072)cCc>cTc p.P1024L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1024 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) CCCAAACTTGGGGAGAGCAAA 0.642000 17 32 0 0 0.00121646 0 0 MYO1A 4640 broad.mit.edu 37 12 57437649 57437649 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:57437649C>T ENST00000442789.2 - 11 1170 c.883G>A c.(883-885)Gat>Aat p.D295N MYO1A_ENST00000544473.1_Missense_Mutation_p.D133N|MYO1A_ENST00000300119.3_Missense_Mutation_p.D295N NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 295 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 CCTCTCCCATCACGGATGCCA 0.527000 10 29 0 0 0.000673444 0 0 STRN 6801 broad.mit.edu 37 2 37085021 37085021 + Silent SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:37085021T>A ENST00000263918.4 - 14 1823 c.1815A>T c.(1813-1815)ctA>ctT p.L605L STRN_ENST00000379213.2_Silent_p.L556L NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 605 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TAAATACACTTAGTGCTGGAG 0.363000 10 30 0 0 0.00136819 0 0 HR 55806 broad.mit.edu 37 8 21978728 21978728 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:21978728G>A ENST00000381418.4 - 10 3697 c.2217C>T c.(2215-2217)tcC>tcT p.S739S HR_ENST00000312841.8_Silent_p.S739S NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 739 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) GGGTCTCAGCGGAATCGGGGG 0.642000 35 67 0 0 0.000953801 0 0 PYHIN1 149628 broad.mit.edu 37 1 158912139 158912139 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:158912139C>T ENST00000368140.1 + 5 1197 c.952C>T c.(952-954)Cac>Tac p.H318Y PYHIN1_ENST00000392254.2_Missense_Mutation_p.H318Y|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H309Y|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H309Y NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 318 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) CAATATTCTTCACAAACAAAC 0.358000 13 34 0 0 0.00244969 0 0 IKZF1 10320 broad.mit.edu 37 7 50444268 50444268 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:50444268G>A ENST00000331340.3 + 4 353 c.198G>A c.(196-198)gaG>gaA p.E66E IKZF1_ENST00000357364.4_Silent_p.E66E|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Silent_p.E66E|IKZF1_ENST00000359197.5_Silent_p.E66E|IKZF1_ENST00000440768.2_Silent_p.E66E|IKZF1_ENST00000349824.4_Silent_p.E66E NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 66 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GTGATGAAGAGAATGGGCGTG 0.443000 """D,T""" BCL6 """ALL, DLBCL""" 27 72 0 0 0.00106085 0 0 STYK1 55359 broad.mit.edu 37 12 10774522 10774522 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:10774522G>A ENST00000075503.3 - 10 1537 c.1017C>T c.(1015-1017)ctC>ctT p.L339L NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 339 Protein kinase. 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 TCCTTCTTTGGAGATGCTCTA 0.428000 HNSCC(73;0.22) 47 72 0 0 0.000781405 0 0 ADAD1 132612 broad.mit.edu 37 4 123301320 123301320 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:123301320G>A ENST00000296513.2 + 3 281 c.96G>A c.(94-96)acG>acA p.T32T ADAD1_ENST00000388725.2_Silent_p.T14T|ADAD1_ENST00000388724.2_Silent_p.T32T NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 32 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CGACAAAGACGATAACTACAC 0.468000 21 43 0 0 0.00229938 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841513 36841513 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:36841513G>A ENST00000279024.4 - 14 3805 c.3534C>T c.(3532-3534)tcC>tcT p.S1178S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 1178 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TCCCCTCTGAGGAGAAGCTGC 0.647000 14 28 0 0 0.000308642 0 0 DPPA3 359787 broad.mit.edu 37 12 7867918 7867918 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:7867918C>T ENST00000345088.2 + 2 339 c.222C>T c.(220-222)atC>atT p.I74I NM_199286.2 NP_954980.1 Q6W0C5 DPPA3_HUMAN developmental pluripotency associated 3 74 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) TCAGGGAAATCGAAGATGAGT 0.468000 13 21 0 0 0.00136819 0 0 FGFR4 2264 broad.mit.edu 37 5 176519753 176519753 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176519753C>T ENST00000292408.4 + 8 1270 c.1025C>T c.(1024-1026)tCc>tTc p.S342F FGFR4_ENST00000292410.3_Missense_Mutation_p.S342F|FGFR4_ENST00000393648.2_Missense_Mutation_p.S342F|FGFR4_ENST00000502906.1_Missense_Mutation_p.S342F|FGFR4_ENST00000393637.1_Missense_Mutation_p.S342F NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 342 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) ATCGGCCTCTCCTACCAGTCT 0.637000 TSP Lung(9;0.080) 17 39 0 0 0.000422831 0 0 MRAP2 112609 broad.mit.edu 37 6 84799131 84799131 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:84799131G>A ENST00000257776.4 + 4 684 c.549G>A c.(547-549)ctG>ctA p.L183L NM_138409.2 NP_612418.2 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 183 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 ATGATCTTCTGATTTCTGAAC 0.478000 25 46 0 0 0.000586117 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754405 140754405 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140754405C>T ENST00000517434.1 + 1 755 c.755C>T c.(754-756)cCt>cTt p.P252L PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAAGTGTTCCTGAAAACCTG 0.493000 10 23 0 0 0.00136819 0 0 TCP10L 140290 broad.mit.edu 37 21 33954638 33954638 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:33954638G>A ENST00000300258.3 - 3 345 c.232C>T c.(232-234)Cat>Tat p.H78Y TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 GCATCTATATGACTCCGGAGT 0.517000 23 69 0 0 0.000586117 0 0 BANK1 55024 broad.mit.edu 37 4 102751320 102751320 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:102751320A>G ENST00000504592.1 + 6 799 c.381A>G c.(379-381)gaA>gaG p.E127E BANK1_ENST00000444316.2_Silent_p.E112E|BANK1_ENST00000322953.4_Silent_p.E142E|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 142 Interaction with ITPR2. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTGAACAGGAACCTGAAGACT 0.328000 16 45 0 0 0.000566183 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881398 111881398 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:111881398C>T ENST00000393256.3 + 2 349 c.76C>T c.(76-78)Ccc>Tcc p.P26S BCL2L11_ENST00000393253.2_Missense_Mutation_p.P26S|BCL2L11_ENST00000405953.1_Missense_Mutation_p.P26S|BCL2L11_ENST00000308659.8_Missense_Mutation_p.P26S|BCL2L11_ENST00000337565.5_Missense_Mutation_p.P26S|BCL2L11_ENST00000357757.2_Missense_Mutation_p.P26S NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 26 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 GGAGAGGCCTCCCCAGCTCAG 0.542000 7 42 0 0 0.000274275 0 0 ANKRD27 84079 broad.mit.edu 37 19 33095330 33095330 + Splice_Site SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:33095330G>T ENST00000306065.4 - 25 2652 c.2493_splice c.e25-1 p.H832_splice NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 832 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) GAGGCCCCGTGCTGGAAAGAG 0.478000 4 9 5.9392e-07 2.30794e-06 0.00116845 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147336289 147336289 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:147336289C>T ENST00000361727.3 + 13 2505 c.1989C>T c.(1987-1989)ctC>ctT p.L663L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 663 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGACACAGCTCGTTTACAGCG 0.498000 HNSCC(39;0.1) 28 61 0 0 0.00106085 0 0 KANK4 163782 broad.mit.edu 37 1 62733963 62733963 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:62733963C>T ENST00000371153.4 - 5 2605 c.2227G>A c.(2227-2229)Gag>Aag p.E743K KANK4_ENST00000354381.3_Missense_Mutation_p.E115K|KANK4_ENST00000371150.1_Missense_Mutation_p.E99K NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 743 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 GCTCACCTCTCGGCCTTGGAG 0.562000 21 18 0 0 0.00278032 0 0 MUC16 94025 broad.mit.edu 37 19 9086952 9086952 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9086952G>A ENST00000397910.4 - 1 5066 c.4863C>T c.(4861-4863)ggC>ggT p.G1621G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1621 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 TGTTTGTTGGGCCAGTCTCAA 0.512000 30 121 0 0 0.001512 0 0 VCAM1 7412 broad.mit.edu 37 1 101198024 101198024 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:101198024G>A ENST00000294728.2 + 7 1677 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K VCAM1_ENST00000370119.4_Missense_Mutation_p.E464K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E327K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E434K NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 526 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CATCCTGGAGGAAGGCAGTTC 0.537000 35 55 0 0 0.00058488 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740672 140740672 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140740672C>T ENST00000522605.1 + 1 970 c.970C>T c.(970-972)Cct>Tct p.P324S PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAAAGATCCTGGAGATCT 0.393000 9 21 0 0 0.000673444 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145758632 145758632 + Silent SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:145758632T>A ENST00000276826.5 - 7 2874 c.2673A>T c.(2671-2673)gcA>gcT p.A891A ARHGAP39_ENST00000377307.2_Silent_p.A922A|ARHGAP39_ENST00000540274.1_Silent_p.A891A Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 891 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CCTCCTGCAGTGCGCTGCCGA 0.647000 11 32 0 0 0.000978159 0 0 OR8H1 219469 broad.mit.edu 37 11 56057731 56057731 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:56057731C>T ENST00000313022.2 - 1 835 c.808G>A c.(808-810)Gat>Aat p.D270N NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GCCACTTGATCCCTTCCCAAA 0.338000 24 35 0 0 0.00278032 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48558162 48558162 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:48558162G>A ENST00000354276.3 - 15 1729 c.1402C>T c.(1402-1404)Ccc>Tcc p.P468S PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P468S|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P468S|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P478S NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 468 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding p.P468T(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TTGAACAGGGGAAAATGCATC 0.517000 20 66 0 0 0.00278032 0 0 KRTDAP 388533 broad.mit.edu 37 19 35979706 35979706 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:35979706C>T ENST00000338897.3 - 2 212 c.124G>A c.(124-126)Gag>Aag p.E42K KRTDAP_ENST00000484218.2_Missense_Mutation_p.E42K|KRTDAP_ENST00000479340.1_5'UTR NM_207392.2 NP_997275.1 P60985 KTDAP_HUMAN keratinocyte differentiation-associated protein 42 cell differentiation extracellular region breast(1)|lung(4)|prostate(1) 6 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGGCTTACCTCGGGTCGTGAC 0.552000 21 32 0 0 0.00229938 0 0 PLA2G6 8398 broad.mit.edu 37 22 38508284 38508284 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:38508284T>A ENST00000332509.3 - 17 2488 c.2305A>T c.(2305-2307)Atg>Ttg p.M769L PLA2G6_ENST00000335539.3_Missense_Mutation_p.M715L|PLA2G6_ENST00000402064.1_Missense_Mutation_p.M715L NM_003560.2 NP_003551.2 O60733 PA2G6_HUMAN phospholipase A2, group VI (cytosolic, calcium-independent) 769 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) TCATCCAGCATGATGTCCGTC 0.617000 5 12 0 0 0.000602214 0 0 CEP350 9857 broad.mit.edu 37 1 179989379 179989379 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179989379C>T ENST00000367607.3 + 12 2888 c.2470C>T c.(2470-2472)Cgt>Tgt p.R824C NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 824 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TAAACTGGATCGTATTGAAGC 0.433000 66 142 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 8999534 8999534 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:8999534C>T ENST00000397910.4 - 56 40844 c.40641G>A c.(40639-40641)gtG>gtA p.V13547V MUC16_ENST00000380951.5_Silent_p.V188V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13549 SEA 10. 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 AGATGGCATCCACTTTGGTGG 0.587000 12 33 0 0 0.00136819 0 0 AP5M1 55745 broad.mit.edu 37 14 57752955 57752955 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:57752955C>T ENST00000261558.3 + 7 1714 c.1308C>T c.(1306-1308)atC>atT p.I436I AP5M1_ENST00000431972.2_Silent_p.I450I NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 436 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex ATTTTAGGATCTTAGATTACA 0.343000 49 55 0 0 0.000781405 0 0 IL17F 112744 broad.mit.edu 37 6 52103575 52103575 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:52103575G>A ENST00000336123.4 - 2 314 c.207C>T c.(205-207)tcC>tcT p.S69S NM_052872.3 NP_443104.1 Q96PD4 IL17F_HUMAN interleukin 17F 69 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity p.M70L(1) NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1) 14 Lung NSC(77;0.116) TACGTGACATGGAAACGCGCT 0.443000 15 27 0 0 0.00244969 0 0 TAF2 6873 broad.mit.edu 37 8 120809338 120809338 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:120809338T>A ENST00000378164.2 - 8 1281 c.983A>T c.(982-984)aAt>aTt p.N328I NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 328 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTGTAAAAGATTTGTGCTGGA 0.328000 8 31 0 0 0.000157383 0 0 POM121 9883 broad.mit.edu 37 7 72413898 72413898 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:72413898C>T ENST00000395270.1 + 14 3612 c.2571C>T c.(2569-2571)acC>acT p.T857T POM121_ENST00000358357.3_Silent_p.T857T|POM121_ENST00000434423.2_Silent_p.T1122T|POM121_ENST00000446813.1_Silent_p.T857T|POM121_ENST00000257622.4_Silent_p.T857T NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCTCCAGCACCACCACCGGAG 0.642000 8 10 0 0 0.000673444 0 0 SPAM1 6677 broad.mit.edu 37 7 123594221 123594221 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:123594221C>T ENST00000340011.5 + 3 954 c.597C>T c.(595-597)ttC>ttT p.F199F SPAM1_ENST00000223028.7_Silent_p.F199F|SPAM1_ENST00000460182.1_Silent_p.F199F|SPAM1_ENST00000439500.1_Silent_p.F199F|SPAM1_ENST00000402183.2_Silent_p.F199F NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 199 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGAAGGATTTCCTGGTAGAGA 0.383000 12 39 0 0 0.00185496 0 0 RCN1 5954 broad.mit.edu 37 11 32124946 32124946 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:32124946C>T ENST00000054950.3 + 5 1101 c.808C>T c.(808-810)Cgc>Tgc p.R270C RCN1_ENST00000532942.1_Missense_Mutation_p.R219C|RP1-65P5.3_ENST00000533009.1_RNA NM_002901.2 NP_002892.1 Q15293 RCN1_HUMAN reticulocalbin 1, EF-hand calcium binding domain 270 EF-hand 5. endoplasmic reticulum lumen calcium ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) AGATGAGATTCGCCACTGGAT 0.473000 30 60 0 0 0.0024448 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846809 47846809 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47846809C>T ENST00000339488.4 - 3 1804 c.1771G>A c.(1771-1773)Gat>Aat p.D591N NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 591 integral to membrane hedgehog receptor activity AAGATGATATCATTTCGAAAA 0.423000 10 30 0 0 0.000673444 0 0 CSMD2 114784 broad.mit.edu 37 1 34498195 34498195 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:34498195C>T ENST00000373381.4 - 3 693 c.517_splice c.e3+1 p.V173_splice NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 133 Sushi 1. 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) AGGCACTTACCTTCATAGGTG 0.562000 8 5 0 0 0.000673444 0 0 IGLV11-55 28770 broad.mit.edu 37 22 22556510 22556510 + RNA SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:22556510G>A ENST00000390286.2 + 0 336 TCCAGCCTGAGGACGAGGCCG 0.512000 24 52 0 0 0.001512 0 0 ODF2 4957 broad.mit.edu 37 9 131260759 131260759 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:131260759A>C ENST00000303890.5 + 21 2593 c.2008A>C c.(2008-2010)Atc>Ctc p.I670L ODF2_ENST00000372807.5_Missense_Mutation_p.I689L|ODF2_ENST00000444119.2_Missense_Mutation_p.I670L|ODF2_ENST00000372796.4_Missense_Mutation_p.I694L|ODF2_ENST00000351030.3_Missense_Mutation_p.I689L|ODF2_ENST00000434106.2_Missense_Mutation_p.I694L NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 694 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GGAGGAGGCAATCCACCAGTC 0.562000 20 62 0 0 0.000586117 0 0 ECE2 9718 broad.mit.edu 37 3 184008849 184008849 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:184008849G>A ENST00000402825.3 + 17 2210 c.2210G>A c.(2209-2211)gGg>gAg p.G737E EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.G590E|ECE2_ENST00000357474.5_Missense_Mutation_p.G665E|ECE2_ENST00000404464.3_Missense_Mutation_p.G619E NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 737 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GACAAAGAAGGGAACCTGCGG 0.597000 13 56 0 0 0.00244969 0 0 AKR1C3 8644 broad.mit.edu 37 10 5141525 5141525 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:5141525G>A ENST00000380554.3 + 5 1106 c.454G>A c.(454-456)Gag>Aag p.E152K AKR1C3_ENST00000605149.1_Missense_Mutation_p.E129K|AKR1C3_ENST00000439082.2_Missense_Mutation_p.E33K NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 152 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) ACAGGCCATGGAGAAGTGTAA 0.478000 23 46 0 0 0.00047179 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75167443 75167443 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:75167443C>T ENST00000395759.2 + 8 988 c.961C>T c.(961-963)Cca>Tca p.P321S MTHFD2L_ENST00000325278.6_Missense_Mutation_p.P263S NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 263 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) CTTTATCACTCCAGTTCCAGG 0.343000 21 41 0 0 0.00047179 0 0 ASB5 140458 broad.mit.edu 37 4 177142371 177142371 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:177142371C>T ENST00000296525.3 - 5 718 c.605G>A c.(604-606)gGa>gAa p.G202E ASB5_ENST00000512254.1_Missense_Mutation_p.G149E NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 202 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GAGAGGAGTTCCCAAATGAGG 0.403000 26 44 0 0 0.000720815 0 0 PLCH1 23007 broad.mit.edu 37 3 155303856 155303856 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:155303856G>A ENST00000460012.1 - 5 865 c.508C>T c.(508-510)Cag>Tag p.Q170* PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q188*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q170*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q170*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.Q188*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.Q188* Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 188 EF-hand 1. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AAACTTACCTGAAACATTTGT 0.333000 27 73 0 0 0.00127121 0 0 COL21A1 81578 broad.mit.edu 37 6 55989070 55989070 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:55989070C>T ENST00000244728.5 - 15 2068 c.1671G>A c.(1669-1671)ggG>ggA p.G557G COL21A1_ENST00000370819.1_Silent_p.G554G|COL21A1_ENST00000535941.1_Silent_p.G557G NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 557 Collagen-like 2. 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) AGCCAGCATTCCCCTTTTCAC 0.353000 6 11 0 0 0.00198382 0 0 FAM46D 169966 broad.mit.edu 37 X 79698500 79698500 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:79698500G>A ENST00000538312.1 + 5 796 c.462G>A c.(460-462)ggG>ggA p.G154G FAM46D_ENST00000308293.5_Silent_p.G154G NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 154 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 ATAACACTGGGAAGAATTTAG 0.378000 28 22 0 0 0.00106085 0 0 RASA1 5921 broad.mit.edu 37 5 86658439 86658439 + Missense_Mutation SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:86658439G>C ENST00000456692.2 + 10 988 c.873G>C c.(871-873)aaG>aaC p.K291N RASA1_ENST00000506290.1_Missense_Mutation_p.K302N|RASA1_ENST00000274376.6_Missense_Mutation_p.K468N|RASA1_ENST00000512763.1_Missense_Mutation_p.K301N NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 468 SH3. 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) GTAAAACAAAGGATGCCTTTT 0.299000 28 104 0 0 0.000720815 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004814 75004814 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:75004814C>T ENST00000373359.2 - 1 265 c.73G>A c.(73-75)Gaa>Aaa p.E25K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 25 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCTTGTATTTCACCTCTGCCG 0.577000 8 9 0 0 0.000274275 0 0 VEPH1 79674 broad.mit.edu 37 3 157177960 157177960 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:157177960C>T ENST00000494677.1 - 5 1061 c.539G>A c.(538-540)cGa>cAa p.R180Q VEPH1_ENST00000537559.1_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.R180Q|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron NM_001167915.1 NP_001161387.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 0 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GCTCAACTTTCGCACCATACC 0.403000 59 107 0 0 0.000781405 0 0 OR4N2 390429 broad.mit.edu 37 14 20295729 20295729 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:20295729G>A ENST00000568211.1 + 1 122 c.122G>A c.(121-123)gGa>gAa p.G41E OR4N2_ENST00000315947.1_Missense_Mutation_p.G41E Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 41 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) ATCCTCCCTGGAAATTTTCTC 0.448000 34 84 0 0 0.00285205 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166324 140166324 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140166324C>T ENST00000504120.2 + 1 449 c.449C>T c.(448-450)tCg>tTg p.S150L PCDHA1_ENST00000394633.3_Missense_Mutation_p.S150L|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S150L NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTGAATTCGCGTTTTCCG 0.443000 22 73 0 0 0.000878237 0 0 OR51G2 81282 broad.mit.edu 37 11 4936891 4936891 + Translation_Start_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:4936891C>T ENST00000322013.3 - 1 31 c.3G>A c.(1-3)atG>atA p.M1I MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCCCAGGGTCATTGTGTGAG 0.527000 14 21 0 0 0.00244969 0 0 SH2D3A 10045 broad.mit.edu 37 19 6760879 6760879 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:6760879G>A ENST00000245908.6 - 3 458 c.189C>T c.(187-189)ttC>ttT p.F63F SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 63 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGGCCACACGGAACACCTCAA 0.622000 13 30 0 0 0.00185496 0 0 HK3 3101 broad.mit.edu 37 5 176308748 176308748 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176308748G>A ENST00000292432.5 - 17 2429 c.2338C>T c.(2338-2340)Cag>Tag p.Q780* NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 780 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAGGCGCTGGATCTGCTGG 0.542000 30 89 0 0 0.00209593 0 0 OR2A25 392138 broad.mit.edu 37 7 143771348 143771348 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:143771348C>T ENST00000408898.2 + 1 74 c.36C>T c.(34-36)ctC>ctT p.L12L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 12 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) CAGAGTTCCTCCTACTGGGAT 0.478000 35 52 0 0 0.000814825 0 0 ROCK1 6093 broad.mit.edu 37 18 18539836 18539836 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:18539836C>T ENST00000399799.1 - 29 4417 c.3477G>A c.(3475-3477)aaG>aaA p.K1159K NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 1159 Auto-inhibitory.|PH. 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) TGGATTGCTCCTTATCTTGTT 0.328000 9 32 0 0 0.000673444 0 0 ZAP70 7535 broad.mit.edu 37 2 98351917 98351917 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:98351917G>A ENST00000264972.5 + 10 1502 c.1287G>A c.(1285-1287)aaG>aaA p.K429K ZAP70_ENST00000451498.2_Silent_p.K122K|ZAP70_ENST00000442208.1_Silent_p.K303K|ZAP70_ENST00000463643.1_3'UTR NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 429 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 TGGTCGGCAAGAGGTGAGCAC 0.697000 15 31 0 0 0.000422831 0 0 GLI2 2736 broad.mit.edu 37 2 121732662 121732662 + Missense_Mutation SNP G G A rs13427953 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:121732662G>A ENST00000452319.1 + 9 1405 c.1345G>A c.(1345-1347)Gac>Aac p.D449N GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.D121N|GLI2_ENST00000361492.4_Missense_Mutation_p.D449N P10070 GLI2_HUMAN GLI family zinc finger 2 449 D -> H (in dbSNP:rs13427953). 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) CAAGGAGTACGACACCCAGGA 0.592000 7 34 0 0 0.000157383 0 0 NRSN1 140767 broad.mit.edu 37 6 24134690 24134690 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:24134690G>A ENST00000378491.4 + 3 436 c.135G>A c.(133-135)gaG>gaA p.E45E NRSN1_ENST00000378478.1_Silent_p.E45E|NRSN1_ENST00000378475.1_Silent_p.E45E NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 45 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 GGGAGTATGAGGATGATTTCC 0.473000 7 39 0 0 0.000157383 0 0 CNTN2 6900 broad.mit.edu 37 1 205034298 205034298 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:205034298G>A ENST00000331830.4 + 13 1887 c.1603G>A c.(1603-1605)Gac>Aac p.D535N NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 535 Ig-like C2-type 6. 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) TGCCTCCCACGACCCCACCAT 0.547000 42 76 0 0 0.00285205 0 0 OR10J3 441911 broad.mit.edu 37 1 159283490 159283490 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:159283490G>A ENST00000332217.5 - 1 959 c.960C>T c.(958-960)ggC>ggT p.G320G NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CAAAGGAAAAGCCTTCACAAC 0.403000 35 69 0 0 0.000814825 0 0 PPIL2 23759 broad.mit.edu 37 22 22043086 22043086 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:22043086C>T ENST00000406385.1 + 15 1147 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C PPIL2_ENST00000412327.1_Missense_Mutation_p.R363C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R363C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R342C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R363C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R363C Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 363 PPIase cyclophilin-type. blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GCACACGGGCCGCGGCATCCT 0.627000 31 60 0 0 0.000953801 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551638 1551638 + Silent SNP C C T rs138084629 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:1551638C>T ENST00000381605.4 - 4 961 c.897G>A c.(895-897)tcG>tcA p.S299S SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 299 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CTATGAGGGTCGAAGCTGTTT 0.562000 22 37 0 0 0.000586117 0 0 ANGPT1 284 broad.mit.edu 37 8 108334231 108334231 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:108334231T>C ENST00000520734.1 - 3 386 c.101A>G c.(100-102)gAa>gGa p.E34G ANGPT1_ENST00000520052.1_Missense_Mutation_p.E34G Q15389 ANGP1_HUMAN angiopoietin 1 234 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) TAATTGCTTTTCCAGCTCCTG 0.428000 36 65 0 0 0.000692331 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476758 110476758 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:110476758A>G ENST00000378402.5 + 49 7801 c.7697A>G c.(7696-7698)aAc>aGc p.N2566S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2566 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) TGGGTCACCAACCCGAACAAT 0.478000 HNSCC(38;0.096) 9 43 0 0 0.000442599 0 0 ACP2 53 broad.mit.edu 37 11 47270236 47270236 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:47270236G>A ENST00000256997.3 - 1 221 c.105C>T c.(103-105)ttC>ttT p.F35F ACP2_ENST00000529444.1_Silent_p.F35F|ACP2_ENST00000444355.2_Silent_p.F35F|ACP2_ENST00000529788.1_Silent_p.F35F|ACP2_ENST00000530453.1_Silent_p.F35F|ACP2_ENST00000537863.1_5'UTR|NR1H3_ENST00000529540.1_3'UTR|ACP2_ENST00000527256.1_Silent_p.F35F NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 35 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 CCAAGGTAACGAAGCGCAGAC 0.632000 5 14 0 0 0.00198382 0 0 DNAH5 1767 broad.mit.edu 37 5 13717512 13717512 + Nonsense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13717512C>T ENST00000265104.4 - 73 12721 c.12617G>A c.(12616-12618)tGg>tAg p.W4206* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4206 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) GGGGATATTCCACCCCAGGGC 0.547000 Kartagener syndrome 7 21 0 0 0.00198382 0 0 RELN 5649 broad.mit.edu 37 7 103197532 103197532 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:103197532C>T ENST00000428762.1 - 38 5848 c.5689G>A c.(5689-5691)Gaa>Aaa p.E1897K RELN_ENST00000424685.2_Missense_Mutation_p.E1897K|RELN_ENST00000343529.5_Missense_Mutation_p.E1897K NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1897 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGTAAAATTCATCCATCAGG 0.408000 19 45 0 0 0.00152264 0 0 DOK3 79930 broad.mit.edu 37 5 176931106 176931106 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:176931106G>A ENST00000501403.2 - 6 1550 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.L457L Q7L591 DOK3_HUMAN docking protein 3 457 Pro-rich. cytoplasm|plasma membrane insulin receptor binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7) 13 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TCCAGCTCCAGCAGCCGCCGG 0.677000 6 13 0 0 0.00116845 0 0 ALPP 250 broad.mit.edu 37 2 233244537 233244537 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:233244537C>T ENST00000392027.2 + 5 817 c.548C>T c.(547-549)gCc>gTc p.A183V AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 183 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGCACCTACGCCCACACGGTG 0.627000 9 14 0 0 0.000442599 0 0 ATAD5 79915 broad.mit.edu 37 17 29219749 29219749 + Silent SNP C C T rs144014973 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:29219749C>T ENST00000321990.4 + 20 4761 c.4383C>T c.(4381-4383)acC>acT p.T1461T NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1461 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GTGCTGAGACCTTGTTTGGCC 0.333000 108 143 0 0 0.000781405 0 0 ENC1 8507 broad.mit.edu 37 5 73931665 73931665 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:73931665T>C ENST00000302351.4 - 2 1776 c.646A>G c.(646-648)Aac>Gac p.N216D ENC1_ENST00000537006.1_Missense_Mutation_p.N216D|ENC1_ENST00000510316.1_Missense_Mutation_p.N143D NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 216 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CTGATCCAGTTAATTGCAGAC 0.498000 21 45 0 0 0.00152264 0 0 NLRC5 84166 broad.mit.edu 37 16 57060873 57060873 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:57060873C>T ENST00000436936.1 + 6 2243 c.2018C>T c.(2017-2019)cCc>cTc p.P673L NLRC5_ENST00000539144.1_Missense_Mutation_p.P673L|NLRC5_ENST00000262510.6_Missense_Mutation_p.P673L|NLRC5_ENST00000308149.7_Missense_Mutation_p.P673L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 673 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GATGGCTGTCCCCTGGAGCCC 0.597000 10 19 0 0 0.000978159 0 0 MYL4 4635 broad.mit.edu 37 17 45286862 45286862 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:45286862C>T ENST00000354968.1 + 2 202 c.74C>T c.(73-75)cCa>cTa p.P25L MYL4_ENST00000393450.1_Missense_Mutation_p.P25L|MYL4_ENST00000572316.1_Missense_Mutation_p.P25L NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic 25 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 gcccctgcaccagcccctgcc 0.587000 38 40 0 0 0.000814825 0 0 PTPN11 5781 broad.mit.edu 37 12 112891006 112891006 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:112891006C>T ENST00000351677.2 + 4 538 c.340C>T c.(340-342)Cat>Tat p.H114Y PTPN11_ENST00000392597.1_Missense_Mutation_p.H114Y NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 114 SH2 2. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 TAGGTGGTTTCATGGACATCT 0.358000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 25 78 0 0 0.000878237 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178699945 178699945 + Missense_Mutation SNP G G A rs146217716 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:178699945G>A ENST00000251582.7 - 3 756 c.655C>T c.(655-657)Cct>Tct p.P219S ADAMTS2_ENST00000274609.5_Missense_Mutation_p.P219S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 219 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P219S(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCGAGAGGAGGGGACGTGGGT 0.672000 11 24 0 0 0.000978159 0 0 SLC22A16 85413 broad.mit.edu 37 6 110778126 110778126 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:110778126G>A ENST00000368919.3 - 2 214 c.148C>T c.(148-150)Cat>Tat p.H50Y SLC22A16_ENST00000439654.1_Missense_Mutation_p.H50Y|SLC22A16_ENST00000456137.2_Missense_Mutation_p.H50Y|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.H48Y NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 50 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CTGCAGACATGATGAGGGGTG 0.488000 20 44 0 0 0.000958276 0 0 MYH14 79784 broad.mit.edu 37 19 50795520 50795520 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:50795520C>T ENST00000440075.2 + 37 5177 c.5130C>T c.(5128-5130)gcC>gcT p.A1710A MYH14_ENST00000596571.1_Silent_p.A1669A|MYH14_ENST00000598205.1_Silent_p.A1677A|MYH14_ENST00000601313.1_Silent_p.A1710A|MYH14_ENST00000425460.1_Silent_p.A1677A|MYH14_ENST00000376970.2_Silent_p.A1702A|MYH14_ENST00000262269.8_Silent_p.A1710A Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1669 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCACCCAGGCCCAGATGAAGG 0.632000 7 3 0 0 0.000274275 0 0 RAVER2 55225 broad.mit.edu 37 1 65296648 65296648 + Nonsense_Mutation SNP A A T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:65296648A>T ENST00000294428.3 + 12 2134 c.2056A>T c.(2056-2058)Aaa>Taa p.K686* RAVER2_ENST00000371072.4_Nonsense_Mutation_p.K673*|RAVER2_ENST00000430964.2_Nonsense_Mutation_p.K225* Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 686 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 AACTTACTTAAAAAAGAAGCG 0.438000 69 69 0 0 0.000781405 0 0 LHCGR 3973 broad.mit.edu 37 2 48914995 48914995 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:48914995C>T ENST00000294954.7 - 11 1962 c.1941G>A c.(1939-1941)cgG>cgA p.R647R LHCGR_ENST00000344775.3_Silent_p.R585R|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Silent_p.R620R|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 647 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) AAAGTTCAGCCCGACGTTTAC 0.383000 27 88 0 0 0.00106085 0 0 LINGO1 84894 broad.mit.edu 37 15 77906604 77906604 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:77906604G>A ENST00000355300.6 - 2 1819 c.1645C>T c.(1645-1647)Cct>Tct p.P549S LINGO1_ENST00000561030.1_Missense_Mutation_p.P543S NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 549 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 AAGGGGAAAGGCACAGTGGCG 0.607000 50 24 0 0 0.000781405 0 0 ABCA4 24 broad.mit.edu 37 1 94526287 94526287 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:94526287G>A ENST00000370225.3 - 14 2052 c.1966C>T c.(1966-1968)Cct>Tct p.P656S ABCA4_ENST00000535735.1_Missense_Mutation_p.P656S NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 656 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) ATGAAGATAGGGAAACAGCGG 0.443000 15 17 0 0 0.00244969 0 0 CNTN1 1272 broad.mit.edu 37 12 41323782 41323782 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:41323782C>T ENST00000551295.2 + 7 798 c.681C>T c.(679-681)atC>atT p.I227I CNTN1_ENST00000348761.2_Silent_p.I216I|CNTN1_ENST00000547849.1_Silent_p.I227I|CNTN1_ENST00000547702.1_Silent_p.I227I|CNTN1_ENST00000347616.1_Silent_p.I227I|CNTN1_ENST00000360099.3_Silent_p.I227I NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 227 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.I227I(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCAAATTCATCCCACTCATTC 0.363000 48 97 0 0 0.000781405 0 0 CATSPERB 79820 broad.mit.edu 37 14 92171042 92171042 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr14:92171042G>A ENST00000256343.3 - 7 626 c.470C>T c.(469-471)cCg>cTg p.P157L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 157 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.P157L(1) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTGAAGAATCGGTTCTGTGGA 0.388000 16 38 0 0 0.000308642 0 0 CRY2 1408 broad.mit.edu 37 11 45868999 45868999 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:45868999C>T ENST00000443527.2 + 1 43 c.21C>T c.(19-21)gcC>gcT p.A7A CRY2_ENST00000417225.2_Intron NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 0 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TCCACGTCGCCTACCGGGGCG 0.736000 7 8 0 0 0.000274275 0 0 SAMD9L 219285 broad.mit.edu 37 7 92760570 92760570 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:92760570G>A ENST00000318238.4 - 5 5931 c.4715C>T c.(4714-4716)tCc>tTc p.S1572F SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1572F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1572F NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1572 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCCTTCAATGGAAAATCCTAG 0.328000 15 40 0 0 0.000566183 0 0 TTC21A 199223 broad.mit.edu 37 3 39171798 39171798 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:39171798C>T ENST00000301819.6 + 17 2469 c.2292C>T c.(2290-2292)tcC>tcT p.S764S TTC21A_ENST00000440121.1_Silent_p.S715S|TTC21A_ENST00000431162.2_Silent_p.S763S NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 763 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ATGACGCCTCCCTGGCCAGCA 0.597000 9 8 0 0 0.000978159 0 0 SLC6A15 55117 broad.mit.edu 37 12 85277534 85277534 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:85277534G>A ENST00000450363.3 - 5 1318 c.860C>T c.(859-861)aCt>aTt p.T287I SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Intron|SLC6A15_ENST00000552192.1_Intron NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 0 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CTAGAATGAAGTGTTATGTGT 0.328000 11 40 0 0 0.000422831 0 0 TRPC4 7223 broad.mit.edu 37 13 38357408 38357408 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:38357408C>T ENST00000379705.3 - 2 920 c.63G>A c.(61-63)agG>agA p.R21R TRPC4_ENST00000358477.2_Silent_p.R21R|TRPC4_ENST00000447043.1_Silent_p.R21R|TRPC4_ENST00000355779.2_Silent_p.R21R|TRPC4_ENST00000379679.1_Silent_p.R21R|TRPC4_ENST00000426868.2_Silent_p.R21R|TRPC4_ENST00000379681.3_Silent_p.R21R|TRPC4_ENST00000338947.5_Silent_p.R21R|TRPC4_ENST00000379673.2_Silent_p.R21R Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 21 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTCTTACTATCCTTAGAGGGA 0.418000 39 87 0 0 0.00128727 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6055779 6055779 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:6055779C>T ENST00000409021.3 - 13 2253 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E602K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E417K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E602K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E437K NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 602 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTCTTACTTCGAGTTCTAGC 0.403000 50 113 0 0 0.000781405 0 0 LPIN1 23175 broad.mit.edu 37 2 11922484 11922484 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:11922484C>T ENST00000256720.2 + 7 1100 c.1007C>T c.(1006-1008)cCt>cTt p.P336L LPIN1_ENST00000425416.2_Missense_Mutation_p.P342L|LPIN1_ENST00000449576.2_Missense_Mutation_p.P421L|LPIN1_ENST00000396097.1_Missense_Mutation_p.P66L|LPIN1_ENST00000396098.1_Missense_Mutation_p.P378L|LPIN1_ENST00000396099.1_Missense_Mutation_p.P378L NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 336 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CAGAACAAGCCTCAGACAGAA 0.512000 13 36 0 0 0.00136819 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997752 72997752 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:72997752C>T ENST00000322038.5 + 2 839 c.255C>T c.(253-255)tcC>tcT p.S85S TSHZ1_ENST00000580243.1_Silent_p.S130S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 130 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCTGCTGGTCCAGCTTAGCTC 0.602000 8 31 0 0 0.000157383 0 0 FSTL1 11167 broad.mit.edu 37 3 120134855 120134855 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:120134855G>A ENST00000295633.3 - 3 439 c.83C>T c.(82-84)tCc>tTc p.S28F FSTL1_ENST00000424703.2_Intron NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 28 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) ACAGATCTTGGATTTGCTCCT 0.453000 49 97 0 0 0.000781405 0 0 NDST4 64579 broad.mit.edu 37 4 115997498 115997498 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:115997498G>A ENST00000264363.2 - 2 1373 c.695C>T c.(694-696)cCt>cTt p.P232L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 232 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TAAAAGTACAGGCTGGTAGGT 0.443000 17 58 0 0 0.00121646 0 0 PTPRU 10076 broad.mit.edu 37 1 29642641 29642641 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:29642641C>T ENST00000373779.3 + 24 3620 c.3491C>T c.(3490-3492)tCc>tTc p.S1164F PTPRU_ENST00000323874.8_Missense_Mutation_p.S1170F|PTPRU_ENST00000428026.2_Missense_Mutation_p.S1161F|PTPRU_ENST00000460170.2_Missense_Mutation_p.S1170F|PTPRU_ENST00000345512.3_Missense_Mutation_p.S1174F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S1170F NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1174 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) AGTAATTCCTCCCAGCTGCGG 0.547000 7 33 0 0 0.000157383 0 0 COLEC10 10584 broad.mit.edu 37 8 120116118 120116118 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:120116118G>A ENST00000332843.2 + 5 467 c.426G>A c.(424-426)atG>atA p.M142I NM_006438.3 NP_006429.2 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 (C-type lectin) 142 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) AGACATCTATGAAGTTTGTCA 0.353000 17 49 0 0 0.000566183 0 0 GRM3 2913 broad.mit.edu 37 7 86394765 86394765 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:86394765G>A ENST00000361669.2 + 2 1403 c.304G>A c.(304-306)Gat>Aat p.D102N GRM3_ENST00000394720.2_Missense_Mutation_p.D100N|GRM3_ENST00000439827.1_Missense_Mutation_p.D102N|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 102 synaptic transmission integral to plasma membrane p.D102N(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATGTTCAAGGGATACCTATGC 0.418000 44 105 0 0 0.000781405 0 0 PAK7 57144 broad.mit.edu 37 20 9543585 9543585 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:9543585C>T ENST00000378429.3 - 7 2115 c.1569G>A c.(1567-1569)atG>atA p.M523I PAK7_ENST00000378423.1_Missense_Mutation_p.M523I|PAK7_ENST00000353224.5_Missense_Mutation_p.M523I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 523 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CTAGAAACTCCATGACCACCC 0.498000 37 81 0 0 0.00170553 0 0 KRT6C 286887 broad.mit.edu 37 12 52864331 52864331 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:52864331C>T ENST00000252250.6 - 6 1208 c.1161G>A c.(1159-1161)atG>atA p.M387I NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 387 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) GCCTCTGGATCATGCGGTTGA 0.547000 29 79 0 0 0.00127121 0 0 GRIK3 2899 broad.mit.edu 37 1 37307518 37307518 + Missense_Mutation SNP C C T rs115314874 by1000genomes TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:37307518C>T ENST00000373091.3 - 10 1365 c.1349G>A c.(1348-1350)cGg>cAg p.R450Q GRIK3_ENST00000373093.4_Missense_Mutation_p.R450Q NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 450 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTCTGATTTCCGAAACATGAC 0.572000 61 80 0 0 0.000781405 0 0 AOC2 314 broad.mit.edu 37 17 40997478 40997478 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:40997478C>T ENST00000253799.3 + 1 862 c.835C>T c.(835-837)Cgg>Tgg p.R279W AOC2_ENST00000452774.2_Missense_Mutation_p.R279W NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 279 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TAAGTCTGGCCGGTTGGAAGT 0.577000 34 51 0 0 0.00283554 0 0 SGCZ 137868 broad.mit.edu 37 8 13959988 13959988 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:13959988G>A ENST00000382080.1 - 7 1356 c.641C>T c.(640-642)tCc>tTc p.S214F SGCZ_ENST00000421524.2_Missense_Mutation_p.S167F NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 201 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CATGATCAAGGATCTGGTGGG 0.413000 8 24 0 0 0.000157383 0 0 EYA4 2070 broad.mit.edu 37 6 133827288 133827288 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:133827288G>A ENST00000367895.5 + 14 1700 c.1236G>A c.(1234-1236)atG>atA p.M412I EYA4_ENST00000525849.1_Missense_Mutation_p.M389I|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.M418I|EYA4_ENST00000355167.3_Missense_Mutation_p.M412I|EYA4_ENST00000431403.2_Missense_Mutation_p.M412I|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.M364I|EYA4_ENST00000452339.2_Missense_Mutation_p.M358I|EYA4_ENST00000355286.6_Missense_Mutation_p.M389I NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 412 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) TGGAAGAAATGATTTTTAATC 0.353000 17 58 0 0 0.00121646 0 0 LDLR 3949 broad.mit.edu 37 19 11240220 11240220 + Missense_Mutation SNP C C T rs139647768 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:11240220C>T ENST00000557933.1 + 17 2570 c.2483C>T c.(2482-2484)tCc>tTc p.S828F LDLR_ENST00000455727.2_Silent_p.F639F|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000545707.1_Silent_p.F629F|LDLR_ENST00000558013.1_Silent_p.F807F|LDLR_ENST00000558518.1_Silent_p.F807F|LDLR_ENST00000535915.1_Silent_p.F766F P01130 LDLR_HUMAN low density lipoprotein receptor 539 Required for MYLIP-triggered down- regulation of LDLR. Y -> C (in FH; J.D.Bari/Syria; dbSNP:rs28942085). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.F807F(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TGGGGGTCTTCCTTCTATGGA 0.552000 69 218 0 0 0.000781405 0 0 RNF157 114804 broad.mit.edu 37 17 74151703 74151703 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:74151703C>T ENST00000269391.6 - 15 1770 c.1638G>A c.(1636-1638)gaG>gaA p.E546E RNF157_ENST00000319945.6_Silent_p.E546E NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 546 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) CCTCTCCCTCCTCTTCAGTGC 0.617000 7 29 0 0 0.000157383 0 0 MERTK 10461 broad.mit.edu 37 2 112705122 112705122 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:112705122C>T ENST00000295408.4 + 4 992 c.735C>T c.(733-735)tcC>tcT p.S245S MERTK_ENST00000409780.1_Silent_p.S69S|MERTK_ENST00000421804.2_Silent_p.S245S Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 245 Ig-like C2-type 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 CTGAAAAATCCCCCTCCGTGC 0.512000 13 43 0 0 0.00244969 0 0 AURKC 6795 broad.mit.edu 37 19 57743539 57743539 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:57743539G>A ENST00000302804.7 + 3 429 c.243G>A c.(241-243)aaG>aaA p.K81K AURKC_ENST00000448930.1_Silent_p.K47K|AURKC_ENST00000415300.2_Silent_p.K62K|AURKC_ENST00000599062.1_Silent_p.K78K|AURKC_ENST00000598785.1_Silent_p.K47K NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 81 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) AGATAGAGAAGGAAGGACTGG 0.522000 11 32 0 0 0.000978159 0 0 POM121L12 285877 broad.mit.edu 37 7 53104076 53104076 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:53104076C>T ENST00000408890.4 + 1 728 c.712C>T c.(712-714)Ccg>Tcg p.P238S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 238 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCTCTGAAGCCGAGCCTCGG 0.657000 13 26 0 0 0.00185496 0 0 CDC25A 993 broad.mit.edu 37 3 48219374 48219374 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:48219374G>A ENST00000302506.3 - 7 1062 c.654C>T c.(652-654)ttC>ttT p.F218F CDC25A_ENST00000351231.3_Silent_p.F178F NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 218 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity p.F218F(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GAAGGTCCACGAAGCCATCAT 0.448000 67 75 0 0 0.000781405 0 0 RARB 5915 broad.mit.edu 37 3 25611335 25611335 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:25611335G>A ENST00000330688.4 + 4 956 c.535G>A c.(535-537)Gat>Aat p.D179N RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.D67N|RARB_ENST00000437042.2_Missense_Mutation_p.D67N|RARB_ENST00000404969.1_Missense_Mutation_p.D186N NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 186 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) TGAGTTGGACGATCTCACAGA 0.483000 17 23 0 0 0.00074312 0 0 VAMP4 8674 broad.mit.edu 37 1 171678874 171678874 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:171678874C>T ENST00000236192.7 - 6 662 c.276G>A c.(274-276)tcG>tcA p.S92S VAMP4_ENST00000367740.2_Silent_p.S91S|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Silent_p.S91S NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 92 v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TTGCATTATCCGATAAGCTTT 0.363000 23 69 0 0 0.000878237 0 0 BRDT 676 broad.mit.edu 37 1 92442946 92442946 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:92442946T>A ENST00000370389.2 + 6 1670 c.746T>A c.(745-747)aTt>aAt p.I249N BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000362005.3_Missense_Mutation_p.I322N|BRDT_ENST00000399546.2_Missense_Mutation_p.I322N|BRDT_ENST00000402388.1_Missense_Mutation_p.I322N|BRDT_ENST00000394530.3_Missense_Mutation_p.I276N NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 322 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) CTTGGAACTATTAAGGTAAAT 0.318000 36 52 0 0 0.000692331 0 0 TFPI 7035 broad.mit.edu 37 2 188361745 188361745 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:188361745C>T ENST00000233156.3 - 3 476 c.182G>A c.(181-183)gGc>gAc p.G61D TFPI_ENST00000339091.4_Missense_Mutation_p.G61D|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.G61D|TFPI_ENST00000392365.1_Missense_Mutation_p.G61D|AC007319.1_ENST00000453517.1_RNA NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 61 BPTI/Kunitz inhibitor 1. 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) TTTACATGGGCCATCATCCGC 0.343000 14 41 0 0 0.00185496 0 0 CUL4A 8451 broad.mit.edu 37 13 113899312 113899312 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr13:113899312C>T ENST00000451881.1 + 13 1332 c.1083C>T c.(1081-1083)ctC>ctT p.L361L CUL4A_ENST00000326335.4_Silent_p.L361L|CUL4A_ENST00000375441.3_Silent_p.L361L|CUL4A_ENST00000375440.4_Silent_p.L461L NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 461 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CAAAAAGACTCCTTGTTGGGA 0.403000 23 39 0 0 0.000878237 0 0 LST3 0 broad.mit.edu 37 12 21196326 21196326 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:21196326C>T ENST00000381541.3 + 7 851 c.786C>T c.(784-786)ttC>ttT p.F262F LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.F262F|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.F215F GGCTTGGTTTCCTTGTGTCTG 0.353000 36 101 0 0 0.000692331 0 0 C1orf106 55765 broad.mit.edu 37 1 200878057 200878057 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:200878057G>A ENST00000367342.4 + 7 1229 c.1029G>A c.(1027-1029)tgG>tgA p.W343* C1orf106_ENST00000413687.2_Nonsense_Mutation_p.W258* NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 343 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTGAGCCCTGGAGCGAGTCCA 0.632000 8 14 0 0 0.000157383 0 0 SLC7A9 11136 broad.mit.edu 37 19 33353099 33353099 + Missense_Mutation SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:33353099G>C ENST00000023064.4 - 6 820 c.629C>G c.(628-630)tCt>tGt p.S210C SLC7A9_ENST00000587772.1_Missense_Mutation_p.S210C|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S210C NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 210 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GCCCTCGAAAGAATTATCAAA 0.527000 23 54 0 0 0.00188189 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407894 148407894 + Silent SNP G G A rs150950962 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:148407894G>A ENST00000538184.1 - 7 930 c.42C>T c.(40-42)ttC>ttT p.F14F SH3TC2_ENST00000512049.1_Silent_p.F460F|SH3TC2_ENST00000394358.2_Silent_p.F352F|SH3TC2_ENST00000515425.1_Silent_p.F467F Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 467 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATGGGGGCGAAGTTCTCAG 0.507000 38 69 0 0 0.000953801 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336469 30336469 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:30336469C>T ENST00000375377.1 - 2 374 c.273G>A c.(271-273)tcG>tcA p.S91S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 91 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACCCCGCCTCCGAGGTTCTGG 0.552000 13 31 0 0 0.000308642 0 0 OR13C8 138802 broad.mit.edu 37 9 107331514 107331514 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:107331514G>A ENST00000335040.1 + 1 66 c.66G>A c.(64-66)aaG>aaA p.K22K NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 22 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 CCCACCCAAAGCTCCAGACAG 0.428000 47 129 0 0 0.000781405 0 0 OGDHL 55753 broad.mit.edu 37 10 50959906 50959906 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:50959906C>T ENST00000374103.4 - 6 801 c.716G>A c.(715-717)cGg>cAg p.R239Q OGDHL_ENST00000432695.1_Missense_Mutation_p.R30Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R182Q NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 239 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CAGCAGGGTCCGCTTCTCCTC 0.612000 29 35 0 0 0.00127121 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214325 140214325 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140214325G>A ENST00000525929.1 + 1 357 c.357G>A c.(355-357)gtG>gtA p.V119V PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.V119V|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCCATGTGGACGTGGAGG 0.587000 43 170 0 0 0.000781405 0 0 TMEM38B 55151 broad.mit.edu 37 9 108536321 108536321 + Missense_Mutation SNP C C T rs140344242 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:108536321C>T ENST00000374688.1 + 6 1384 c.674C>T c.(673-675)tCa>tTa p.S225L TMEM38B_ENST00000374692.3_Missense_Mutation_p.S279L Q9NVV0 TM38B_HUMAN transmembrane protein 38B 279 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 GATGTTGCCTCAGATAATGTT 0.388000 33 44 0 0 0.000692331 0 0 BAI3 577 broad.mit.edu 37 6 70064197 70064197 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:70064197C>T ENST00000370598.1 + 27 4353 c.3532C>T c.(3532-3534)Cct>Tct p.P1178S BAI3_ENST00000238918.8_Missense_Mutation_p.P384S|BAI3_ENST00000546190.1_Missense_Mutation_p.P142S NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1178 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) GAGTTCGTTTCCTAATGGGCA 0.383000 39 94 0 0 0.00222228 0 0 WDR72 256764 broad.mit.edu 37 15 53998203 53998203 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:53998203G>A ENST00000396328.1 - 10 1262 c.1023C>T c.(1021-1023)ttC>ttT p.F341F WDR72_ENST00000557913.1_Silent_p.F338F|WDR72_ENST00000360509.5_Silent_p.F341F|WDR72_ENST00000559418.1_Silent_p.F351F NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 341 p.F341L(1) 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) CTTCTCCAGAGAAAAGTACCT 0.398000 24 18 0 0 0.00278032 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261062 21261062 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:21261062G>A ENST00000311620.5 + 2 248 c.175G>A c.(175-177)Gat>Aat p.D59N NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 59 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) AGGGGACCCTGATAGGTGTGA 0.428000 23 41 0 0 0.000878237 0 0 ACP1 52 broad.mit.edu 37 2 272128 272128 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:272128C>T ENST00000272065.5 + 3 302 c.209C>T c.(208-210)cCc>cTc p.P70L ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000272067.6_Intron|ACP1_ENST00000407983.3_Missense_Mutation_p.P70L|ACP1_ENST00000484464.1_3'UTR NM_004300.3 NP_004291.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 70 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) CACGGCATTCCCATGAGCCAC 0.577000 20 38 0 0 0.00229938 0 0 FCRL5 83416 broad.mit.edu 37 1 157514669 157514669 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:157514669C>T ENST00000361835.3 - 4 668 c.511G>A c.(511-513)Gaa>Aaa p.E171K FCRL5_ENST00000368189.3_Missense_Mutation_p.E171K|FCRL5_ENST00000368191.3_Missense_Mutation_p.E86K|FCRL5_ENST00000356953.4_Missense_Mutation_p.E171K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E171K NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 171 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAACAACTTTCCTTATATCCA 0.393000 54 83 0 0 0.000781405 0 0 NPR1 4881 broad.mit.edu 37 1 153655028 153655028 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:153655028C>T ENST00000368680.3 + 5 1698 c.1226C>T c.(1225-1227)tCc>tTc p.S409F NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 409 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) ACAGACTTCTCCCTCTGGGAT 0.488000 8 17 0 0 0.000442599 0 0 PPL 5493 broad.mit.edu 37 16 4945319 4945319 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:4945319C>T ENST00000345988.2 - 11 1274 c.1185G>A c.(1183-1185)cgG>cgA p.R395R PPL_ENST00000590782.2_Silent_p.R393R NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 395 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCGGAGTCTCCCGGCGGTACT 0.607000 12 25 0 0 0.000308642 0 0 MYH8 4626 broad.mit.edu 37 17 10303854 10303854 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:10303854C>T ENST00000403437.2 - 27 3682 c.3588G>A c.(3586-3588)cgG>cgA p.R1196R CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1196 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGTGCTTCTTCCGAAGAGCAG 0.547000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 21 32 0 0 0.00152264 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178397 140178397 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:140178397C>T ENST00000458420.3 + 7 1198 c.1008C>T c.(1006-1008)tcC>tcT p.S336S RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 336 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 TCTTGCCATCCCCTAGCGCTG 0.557000 HNSCC(16;0.037) 19 51 0 0 0.00152264 0 0 OR2W1 26692 broad.mit.edu 37 6 29012694 29012694 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:29012694C>T ENST00000377175.1 - 1 323 c.259G>A c.(259-261)Gga>Aga p.G87R NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G87*(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 TTATCAGGTCCCCACAAGTTG 0.438000 7 53 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13864741 13864741 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:13864741C>T ENST00000265104.4 - 28 4465 c.4361G>A c.(4360-4362)cGa>cAa p.R1454Q CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1454 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) GGGAAGCTTTCGACATCTGTG 0.468000 Kartagener syndrome 25 48 0 0 0.00127121 0 0 KIAA1551 55196 broad.mit.edu 37 12 32137752 32137752 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:32137752C>T ENST00000312561.4 + 4 4277 c.3863C>T c.(3862-3864)cCc>cTc p.P1288L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 AAACTAAATCCCTTGCAAAAT 0.343000 7 30 0 0 0.00198382 0 0 RAB35 11021 broad.mit.edu 37 12 120536844 120536844 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:120536844G>A ENST00000229340.5 - 4 530 c.342C>T c.(340-342)tgC>tgT p.C114C RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Silent_p.C114C NM_001167606.1|NM_006861.6 NP_001161078.1|NP_006852.1 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 114 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) CTAATATTCGGCACACATCAT 0.597000 16 29 0 0 0.000566183 0 0 BTBD9 114781 broad.mit.edu 37 6 38256186 38256186 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:38256186C>T ENST00000481247.1 - 8 1467 c.1316G>A c.(1315-1317)gGa>gAa p.G439E BTBD9_ENST00000314100.6_Missense_Mutation_p.G371E|BTBD9_ENST00000403056.1_Missense_Mutation_p.G439E|BTBD9_ENST00000419706.2_Missense_Mutation_p.G409E|BTBD9_ENST00000408958.1_Missense_Mutation_p.G371E NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 439 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CCGACTGACTCCTTCAATCAC 0.453000 20 55 0 0 0.00278032 0 0 UBE3A 7337 broad.mit.edu 37 15 25585360 25585360 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:25585360G>A ENST00000232165.3 - 12 3026 c.2370C>T c.(2368-2370)atC>atT p.I790I UBE3A_ENST00000566215.1_Silent_p.I770I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Silent_p.I770I|UBE3A_ENST00000428984.2_Silent_p.I770I|UBE3A_ENST00000397954.2_Silent_p.I793I NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 793 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) ATGAATGAACGATTTCCCAGA 0.363000 20 24 0 0 0.00188189 0 0 SNHG14 104472715 broad.mit.edu 37 15 25307561 25307561 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:25307561C>T ENST00000549804.2 + 0 397 SNORD116-5_ENST00000384462.1_RNA TCGTTCTCATCAGAACTGAGG 0.512000 34 47 0 0 0.00128727 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554011 140554011 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140554011G>A ENST00000231137.3 + 1 1769 c.1595G>A c.(1594-1596)gGc>gAc p.G532D NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 532 Cadherin 5. 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) TTCCGCGTGGGCGCCACAGAC 0.697000 21 41 0 0 0.00188189 0 0 PPBP 5473 broad.mit.edu 37 4 74853053 74853053 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:74853053G>A ENST00000296028.3 - 3 416 c.323C>T c.(322-324)cCa>cTa p.P108L NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 108 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) GGGAGCATCTGGGTCCAGGCA 0.423000 25 53 0 0 0.000878237 0 0 FOLH1 2346 broad.mit.edu 37 11 49175467 49175467 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:49175467G>A ENST00000340334.7 - 18 2224 c.1856C>T c.(1855-1857)tCt>tTt p.S619F FOLH1_ENST00000256999.2_Missense_Mutation_p.S634F|FOLH1_ENST00000356696.3_Missense_Mutation_p.S634F|FOLH1_ENST00000343844.4_Missense_Mutation_p.S326F|FOLH1_ENST00000533034.1_Missense_Mutation_p.S619F NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 634 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTTTACTGCAGAAAAAAGTGA 0.328000 16 47 0 0 0.000566183 0 0 SUSD4 55061 broad.mit.edu 37 1 223465812 223465812 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:223465812G>A ENST00000343846.3 - 2 963 c.330C>T c.(328-330)atC>atT p.I110I SUSD4_ENST00000366878.4_Silent_p.I110I|SUSD4_ENST00000344029.6_Silent_p.I110I|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR Q5VX71 SUSD4_HUMAN sushi domain containing 4 110 Sushi 1. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TATCACTTGGGATCCAGCCTA 0.498000 32 101 0 0 0.000814825 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045754 142045754 + RNA SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:142045754C>T ENST00000390392.3 + 0 393 CTCACTTATTCCTTCACCTAC 0.502000 63 105 0 0 0.000781405 0 0 LILRB4 11006 broad.mit.edu 37 19 55175813 55175813 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55175813G>A ENST00000391736.1 + 6 847 c.532G>A c.(532-534)Gct>Act p.A178T LILRB4_ENST00000270452.2_Missense_Mutation_p.A178T|LILRB4_ENST00000391733.3_Missense_Mutation_p.A178T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A178T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A178T NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 178 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GCAGCACCAGGCTGAATTCCC 0.587000 22 36 0 0 0.000720815 0 0 F13A1 2162 broad.mit.edu 37 6 6305667 6305667 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:6305667C>T ENST00000264870.3 - 3 501 c.236G>A c.(235-237)aGa>aAa p.R79K NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 79 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGACTGCCCTCTGCGGACAAT 0.483000 18 46 0 0 0.00074312 0 0 SORBS1 10580 broad.mit.edu 37 10 97097047 97097047 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:97097047G>A ENST00000371247.2 - 30 3059 c.2870C>T c.(2869-2871)tCc>tTc p.S957F SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S911F|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S957F|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 957 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GCTGTGACTGGAAAACTTaaa 0.478000 7 4 0 0 0.000157383 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112778290 112778290 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:112778290G>A ENST00000374530.3 + 7 733 c.553G>A c.(553-555)Gaa>Aaa p.E185K AKAP2_ENST00000510514.5_Missense_Mutation_p.E185K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E185K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E185K NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 0 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 GAACGCCACAGAAACATCCGG 0.473000 29 47 0 0 0.000692331 0 0 SZT2 23334 broad.mit.edu 37 1 43909142 43909142 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:43909142C>T ENST00000562955.1 + 60 8448 c.8448C>T c.(8446-8448)gaC>gaT p.D2816D SZT2_ENST00000372442.1_Silent_p.D1974D NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2873 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GACCCCCTGACGGGCAGGTAA 0.612000 16 17 0 0 0.000958276 0 0 VPS16 64601 broad.mit.edu 37 20 2843460 2843460 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:2843460C>T ENST00000380445.3 + 13 1283 c.1211C>T c.(1210-1212)tCc>tTc p.S404F VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.S90F|VPS16_ENST00000481812.2_3'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 404 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 CAGGCCGCCTCCTTCGGAAAG 0.632000 46 84 0 0 0.000781405 0 0 ABCF3 55324 broad.mit.edu 37 3 183910650 183910650 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:183910650C>T ENST00000429586.2 + 18 1901 c.1716C>T c.(1714-1716)gtC>gtT p.V572V EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.V566V NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 572 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACCTAAACGTCAGTGCTGTGG 0.542000 7 49 0 0 0.000157383 0 0 LILRA2 11027 broad.mit.edu 37 19 55087437 55087437 + Silent SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:55087437A>G ENST00000251377.3 + 7 1249 c.1116A>G c.(1114-1116)caA>caG p.Q372Q LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.Q372Q|LILRA2_ENST00000391737.1_Silent_p.Q360Q|LILRA2_ENST00000251376.3_Silent_p.Q372Q|LILRB1_ENST00000418536.2_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) CAGAGCACCAAGCTCAGCAGA 0.597000 12 39 0 0 0.00185496 0 0 KCNC1 3746 broad.mit.edu 37 11 17794027 17794027 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr11:17794027G>A ENST00000379472.3 + 2 1416 c.1386G>A c.(1384-1386)cgG>cgA p.R462R KCNC1_ENST00000265969.6_Silent_p.R462R NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 462 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ATATTCCGCGGCCACCGCAGC 0.478000 18 48 0 0 0.000566183 0 0 DNAH9 1770 broad.mit.edu 37 17 11666863 11666863 + Missense_Mutation SNP G G A rs140313224 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:11666863G>A ENST00000262442.3 + 36 7170 c.7102G>A c.(7102-7104)Gaa>Aaa p.E2368K DNAH9_ENST00000454412.2_Missense_Mutation_p.E2368K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2368 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.E2368K(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCCCTAAGGAAATTTATGA 0.493000 19 34 0 0 0.00121646 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018662 161018662 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:161018662C>T ENST00000368013.3 - 12 2469 c.2149G>A c.(2149-2151)Gaa>Aaa p.E717K ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E540K|ARHGAP30_ENST00000368016.3_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 717 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) GACTTCTCTTCCTTGGCCTCT 0.502000 77 140 0 0 0.000781405 0 0 ITIH2 3698 broad.mit.edu 37 10 7763687 7763687 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:7763687G>A ENST00000358415.4 + 8 980 c.814G>A c.(814-816)Gaa>Aaa p.E272K ITIH2_ENST00000379587.4_Missense_Mutation_p.E261K NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 272 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 GGTAGATGGGGAACTGGTGGT 0.552000 31 76 0 0 0.00148497 0 0 PRAMEF10 343071 broad.mit.edu 37 1 12954982 12954982 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:12954982G>A ENST00000235347.4 - 3 380 c.301C>T c.(301-303)Caa>Taa p.Q101* NM_001039361.3 NP_001034450.2 O60809 PRA10_HUMAN PRAME family member 10 101 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCCAGCACTTGAAGTTTCCAC 0.527000 47 37 0 0 0.000781405 0 0 DAPK2 23604 broad.mit.edu 37 15 64222634 64222634 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:64222634C>T ENST00000261891.3 - 5 609 c.604G>A c.(604-606)Gag>Aag p.E202K DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.E202K|DAPK2_ENST00000558069.1_Missense_Mutation_p.E202K|RP11-111E14.1_ENST00000558050.1_RNA Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 202 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) CCCAGGGGCTCGTAGTTCACA 0.478000 52 44 0 0 0.000781405 0 0 TTC39C 125488 broad.mit.edu 37 18 21705489 21705489 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:21705489C>T ENST00000540918.2 + 5 724 c.474C>T c.(472-474)ttC>ttT p.F158F TTC39C_ENST00000317571.3_Silent_p.F465F|TTC39C_ENST00000304621.6_Silent_p.F404F Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 465 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 ACTGTTCCTTCCCCAACCTGC 0.458000 18 39 0 0 0.00074312 0 0 FRAS1 80144 broad.mit.edu 37 4 79462122 79462122 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:79462122G>A ENST00000264895.6 + 74 12323 c.11883G>A c.(11881-11883)cgG>cgA p.R3961R NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3956 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 ACCCGGACCGGGTGGAGAAGA 0.502000 16 69 0 0 0.000566183 0 0 SIM1 6492 broad.mit.edu 37 6 100838545 100838545 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:100838545G>A ENST00000369208.3 - 12 2775 c.1993C>T c.(1993-1995)Cgc>Tgc p.R665C SIM1_ENST00000262901.4_Missense_Mutation_p.R665C P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 665 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TTTGAAATGCGATCCGAATTG 0.458000 37 92 0 0 0.00128727 0 0 MAD1L1 8379 broad.mit.edu 37 7 2108855 2108855 + Nonsense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:2108855G>A ENST00000406869.1 - 12 1749 c.1192C>T c.(1192-1194)Cag>Tag p.Q398* MAD1L1_ENST00000265854.7_Nonsense_Mutation_p.Q398*|MAD1L1_ENST00000402746.1_Nonsense_Mutation_p.Q306*|MAD1L1_ENST00000399654.2_Nonsense_Mutation_p.Q398* Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 398 Necessary for interaction with NEK2. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) ACCCGTTTCTGGAGCCTCCGG 0.632000 24 44 0 0 0.00178596 0 0 COL6A1 1291 broad.mit.edu 37 21 47412099 47412099 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:47412099C>T ENST00000361866.3 + 17 1318 c.1204C>T c.(1204-1206)Ccc>Tcc p.P402S NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 402 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGAGCCTGGGCCCCCCGGAGA 0.642000 10 27 0 0 0.00136819 0 0 C16orf62 57020 broad.mit.edu 37 16 19693631 19693631 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:19693631G>A ENST00000438132.3 + 28 2761 c.2713G>A c.(2713-2715)Gag>Aag p.E905K C16orf62_ENST00000448695.1_Missense_Mutation_p.E666K|C16orf62_ENST00000251143.5_Missense_Mutation_p.E816K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E565K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E812K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E723K NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 816 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CAACAGCGATGAGAAAATCCG 0.532000 16 54 0 0 0.000308642 0 0 BRD2 6046 broad.mit.edu 37 6 32947752 32947752 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32947752C>T ENST00000395289.2 + 12 3695 c.2094C>T c.(2092-2094)ggC>ggT p.G698G BRD2_ENST00000374825.4_Silent_p.G663G|BRD2_ENST00000395287.1_Silent_p.G698G|BRD2_ENST00000449085.2_Silent_p.G616G|BRD2_ENST00000443797.2_Silent_p.G543G|BRD2_ENST00000374831.4_Silent_p.G663G P25440 BRD2_HUMAN bromodomain containing 2 663 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGAAGCTGGGCCGAGTTGTGC 0.483000 9 43 0 0 0.000442599 0 0 DDX23 9416 broad.mit.edu 37 12 49237775 49237775 + Silent SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:49237775G>T ENST00000308025.3 - 3 347 c.268C>A c.(268-270)Cga>Aga p.R90R DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 90 Arg-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.R90R(1) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TCTCGATCTCGGTCCTTCTTA 0.488000 7 218 2.17888e-05 8.45304e-05 0.000442599 1 0 METTL2B 55798 broad.mit.edu 37 7 128119245 128119245 + Missense_Mutation SNP A A C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:128119245A>C ENST00000480046.1 + 2 156 c.41A>C c.(40-42)aAt>aCt p.N14T METTL2B_ENST00000262432.8_Missense_Mutation_p.N79T Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 79 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AAATACTGGAATGACTTCTAC 0.323000 12 27 0 0 0.00074312 0 0 COL6A6 131873 broad.mit.edu 37 3 130282394 130282394 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:130282394C>T ENST00000358511.6 + 2 578 c.547C>T c.(547-549)Cat>Tat p.H183Y COL6A6_ENST00000453409.2_Missense_Mutation_p.H183Y NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 183 Nonhelical region.|VWFA 1. 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 GTCTCAGTTTCATTTCAACCT 0.473000 24 55 0 0 0.00278032 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54913090 54913090 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:54913090G>A ENST00000293373.6 + 16 1678 c.1599G>A c.(1597-1599)gtG>gtA p.V533V NCKAP1L_ENST00000545638.2_Silent_p.V483V NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 533 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AATTGCTGGTGGAAACTTCTG 0.428000 34 67 0 0 0.00170553 0 0 COL5A3 50509 broad.mit.edu 37 19 10088358 10088358 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:10088358C>T ENST00000264828.3 - 42 3123 c.3038G>A c.(3037-3039)gGt>gAt p.G1013D NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1013 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) GCCCAAAGGACCGCGCTCACC 0.577000 8 18 0 0 0.000274275 0 0 XDH 7498 broad.mit.edu 37 2 31605980 31605980 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:31605980C>T ENST00000379416.3 - 11 973 c.925G>A c.(925-927)Gaa>Aaa p.E309K XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 309 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGGGTTTTTTCCACAATGCTC 0.532000 14 35 0 0 0.00244969 0 0 GRIA1 2890 broad.mit.edu 37 5 153078581 153078581 + Missense_Mutation SNP G G T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:153078581G>T ENST00000285900.5 + 10 1743 c.1400G>T c.(1399-1401)cGa>cTa p.R467L GRIA1_ENST00000518142.1_Missense_Mutation_p.R387L|GRIA1_ENST00000518783.1_Missense_Mutation_p.R477L|GRIA1_ENST00000340592.5_Missense_Mutation_p.R467L|GRIA1_ENST00000521843.2_Missense_Mutation_p.R398L|GRIA1_ENST00000448073.4_Missense_Mutation_p.R477L NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 467 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.R467Q(2) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACGGAGCCCGAGACCCTGAC 0.562000 6 20 0.00198382 0.00762708 0.00198382 1 0 RP1L1 94137 broad.mit.edu 37 8 10470341 10470341 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:10470341G>A ENST00000382483.3 - 4 1490 c.1267C>T c.(1267-1269)Cgg>Tgg p.R423W NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 423 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) CACCTCTTCCGAGCTGCCACT 0.667000 12 38 0 0 0.000566183 0 0 MARC2 54996 broad.mit.edu 37 1 220955232 220955232 + Silent SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:220955232C>A ENST00000366913.3 + 7 1195 c.997C>A c.(997-999)Cgg>Agg p.R333R MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 333 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CCCTGTGTATCGGATGGTGTA 0.433000 37 98 1.22674e-20 4.80079e-20 0.00195071 1 0 EPHA7 2045 broad.mit.edu 37 6 93967213 93967213 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:93967213G>A ENST00000369303.4 - 12 2323 c.2139C>T c.(2137-2139)ttC>ttT p.F713F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 713 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) CATTTTCCATGAACTCTATTA 0.363000 20 45 0 0 0.00229938 0 0 NAT16 375607 broad.mit.edu 37 7 100815612 100815612 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100815612G>A ENST00000300303.2 - 4 1096 c.858C>T c.(856-858)atC>atT p.I286I NAT16_ENST00000455377.1_Silent_p.I286I NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 286 N-acetyltransferase activity CTCCGTGCGGGATGGGGAAGG 0.716000 5 9 0 0 0.000602214 0 0 GPR115 221393 broad.mit.edu 37 6 47681738 47681738 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:47681738G>A ENST00000283303.2 + 6 1015 c.757G>A c.(757-759)Gag>Aag p.E253K GPR115_ENST00000371220.1_Missense_Mutation_p.E310K|GPR115_ENST00000327753.3_Missense_Mutation_p.E253K NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 253 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 TAATACCTCAGAGAAAAGCCT 0.403000 19 50 0 0 0.000958276 0 0 MYO18B 84700 broad.mit.edu 37 22 26422462 26422462 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:26422462G>A ENST00000335473.7 + 43 6772 c.6522G>A c.(6520-6522)ctG>ctA p.L2174L MYO18B_ENST00000407587.2_Silent_p.L2175L|MYO18B_ENST00000536101.1_Silent_p.L2174L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2174 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 CATTGGCACTGAGCAGAGCCC 0.517000 50 115 0 0 0.000781405 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813746 100813746 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:100813746G>A ENST00000323346.5 + 12 1892 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SLC17A8_ENST00000392989.3_Missense_Mutation_p.E477K|SLC17A8_ENST00000552697.1_3'UTR NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 527 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 TGACCAGGACGAATTAGCTGA 0.468000 10 23 0 0 0.000442599 0 0 SEMA3E 9723 broad.mit.edu 37 7 83014739 83014739 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:83014739C>T ENST00000307792.3 - 16 2213 c.1746G>A c.(1744-1746)ttG>ttA p.L582L SEMA3E_ENST00000427262.1_Silent_p.L522L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 582 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CAGTCTTATCCAAAGCATCCC 0.363000 25 69 0 0 0.00106085 0 0 CEP250 11190 broad.mit.edu 37 20 34095953 34095953 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:34095953C>T ENST00000397527.1 + 32 7560 c.6840C>T c.(6838-6840)gcC>gcT p.A2280A CEP250_ENST00000342580.4_Silent_p.A2224A NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2280 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGCAGTGGCCCGGCTGGAGA 0.577000 35 87 0 0 0.00195071 0 0 PLCB2 5330 broad.mit.edu 37 15 40590104 40590104 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:40590104G>A ENST00000260402.3 - 12 1461 c.1212C>T c.(1210-1212)atC>atT p.I404I PLCB2_ENST00000557821.1_Silent_p.I404I|PLCB2_ENST00000456256.2_Silent_p.I404I NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 404 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CAAACGACAGGATGATGGGAT 0.542000 11 29 0 0 0.000422831 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547676 44547676 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:44547676G>A ENST00000260649.6 + 10 2032 c.1956G>A c.(1954-1956)acG>acA p.T652T SLC3A1_ENST00000409740.3_Silent_p.T283T|PREPL_ENST00000409957.1_3'UTR|SLC3A1_ENST00000409380.1_Silent_p.T374T|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 652 T -> R (in CSNU1). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) AACACAACACGAAGAATCTCC 0.418000 21 43 0 0 0.00278032 0 0 NLRP8 126205 broad.mit.edu 37 19 56490864 56490864 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:56490864G>A ENST00000291971.3 + 9 3052 c.2981G>A c.(2980-2982)gGa>gAa p.G994E NLRP8_ENST00000590542.1_Missense_Mutation_p.G975E NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 994 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AATGCGATTGGAGTCTATGGT 0.488000 35 95 0 0 0.000953801 0 0 PMFBP1 83449 broad.mit.edu 37 16 72163092 72163092 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:72163092T>A ENST00000537465.1 - 13 1996 c.1838A>T c.(1837-1839)gAt>gTt p.D613V PMFBP1_ENST00000355636.6_Missense_Mutation_p.D463V|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D608V Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 613 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) CTCCTGAAGATCTTCTTCTAA 0.443000 95 166 0 0 0.000781405 0 0 ASXL2 55252 broad.mit.edu 37 2 25967139 25967139 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:25967139G>A ENST00000435504.4 - 13 2360 c.2067C>T c.(2065-2067)acC>acT p.T689T ASXL2_ENST00000404843.1_Silent_p.T429T|ASXL2_ENST00000272341.4_Silent_p.T429T|ASXL2_ENST00000336112.4_Silent_p.T661T Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 689 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCTGGAATGGTCCCTCCAA 0.612000 23 46 0 0 0.00047179 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887442 131887442 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:131887442C>T ENST00000359827.3 - 12 3511 c.2549G>A c.(2548-2550)gGt>gAt p.G850D PLXNA4_ENST00000321063.4_Missense_Mutation_p.G850D Q9HCM2 PLXA4_HUMAN plexin A4 850 PSI 3. 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 GCTTTTGGCACCAGACAGCTC 0.662000 13 23 0 0 0.00136819 0 0 CYP4F3 4051 broad.mit.edu 37 19 15758116 15758116 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:15758116G>A ENST00000221307.7 + 5 555 c.507G>A c.(505-507)gaG>gaA p.E169E CYP4F3_ENST00000586182.1_Silent_p.E169E|CYP4F3_ENST00000585846.1_Silent_p.E169E|CYP4F3_ENST00000591058.1_Silent_p.E169E NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 169 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTTTCAATGAGAGTGTGAACA 0.502000 30 116 0 0 0.00058488 0 0 TTN 7273 broad.mit.edu 37 2 179664632 179664632 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179664632C>T ENST00000589042.1 - 5 813 c.589G>A c.(589-591)Gaa>Aaa p.E197K TTN_ENST00000591111.1_Missense_Mutation_p.E197K|TTN_ENST00000342992.6_Missense_Mutation_p.E197K|TTN_ENST00000359218.5_Missense_Mutation_p.E197K|TTN_ENST00000360870.5_Missense_Mutation_p.E197K|TTN_ENST00000460472.2_Missense_Mutation_p.E197K|TTN_ENST00000342175.6_Missense_Mutation_p.E197K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 197 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) GGTACTTCTTCTTCACCTGTG 0.373000 15 33 0 0 0.000422831 0 0 TTN 7273 broad.mit.edu 37 2 179554320 179554320 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179554320G>A ENST00000589042.1 - 123 32073 c.31849C>T c.(31849-31851)Cct>Tct p.P10617S TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10300S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9373S|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10300 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) TGTACTTCAGGAACTTGAAGA 0.368000 7 23 0 0 0.000157383 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806600 97806600 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:97806600C>T ENST00000358642.2 + 1 584 c.584C>T c.(583-585)tCt>tTt p.S195F NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 AATGGTCCATCTATTAACGCA 0.303000 24 43 0 0 0.00278032 0 0 PTPRR 5801 broad.mit.edu 37 12 71147971 71147971 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:71147971C>T ENST00000283228.2 - 5 1190 c.738_splice c.e5+1 p.M246_splice PTPRR_ENST00000440835.2_Splice_Site_p.M1_splice|PTPRR_ENST00000549308.1_Splice_Site_p.M1_splice|PTPRR_ENST00000378778.1_Splice_Site_p.M40_splice|PTPRR_ENST00000342084.4_Splice_Site_p.M134_splice NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 246 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GCAAACTTACCATCAAACACG 0.373000 8 28 0 0 0.000442599 0 0 RNF133 168433 broad.mit.edu 37 7 122338165 122338165 + Missense_Mutation SNP G G A rs113296018 byFrequency TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:122338165G>A ENST00000340112.2 - 1 1045 c.808C>T c.(808-810)Cgt>Tgt p.R270C CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 270 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 GTCAGAATACGAACTATGTCA 0.388000 44 51 0 0 0.000781405 0 0 USO1 8615 broad.mit.edu 37 4 76714941 76714941 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:76714941G>A ENST00000538159.1 + 13 1345 c.1345G>A c.(1345-1347)Gcg>Acg p.A449T USO1_ENST00000514213.2_Missense_Mutation_p.A432T O60763 USO1_HUMAN USO1 vesicle transport factor 447 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCTTGCCCATGCGTTGCAAGA 0.453000 17 32 0 0 0.00074312 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828092 43828092 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43828092G>A ENST00000377564.3 + 9 1741 c.1348G>A c.(1348-1350)Gat>Aat p.D450N NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 450 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGATTAAACGATGGGCAGTG 0.448000 33 74 0 0 0.00111076 0 0 SSH1 54434 broad.mit.edu 37 12 109210883 109210883 + Missense_Mutation SNP A A G TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:109210883A>G ENST00000326495.5 - 5 425 c.332T>C c.(331-333)gTg>gCg p.V111A SSH1_ENST00000551165.1_Missense_Mutation_p.V111A|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.V122A|SSH1_ENST00000360239.3_5'UTR NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 111 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTGCTGTACACCACCACCAT 0.597000 21 46 0 0 0.00121646 0 0 RYR1 6261 broad.mit.edu 37 19 38979928 38979928 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:38979928G>A ENST00000355481.4 + 35 5790 c.5659G>A c.(5659-5661)Gaa>Aaa p.E1887K RYR1_ENST00000360985.3_Missense_Mutation_p.E1887K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1887K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1887 6 X approximate repeats.|Glu-rich (acidic). 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) gggtgaagaggaagatgagga 0.498000 10 11 0 0 0.000442599 0 0 LPA 4018 broad.mit.edu 37 6 160978539 160978539 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:160978539C>T ENST00000447678.1 - 30 4816 c.4696G>A c.(4696-4698)Gat>Aat p.D1566N LPA_ENST00000316300.5_Missense_Mutation_p.D1566N NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4074 Kringle 14. 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) ACACACGGATCGGTTGTGTAA 0.498000 29 56 0 0 0.00106085 0 0 BPIFB4 149954 broad.mit.edu 37 20 31672707 31672707 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:31672707C>T ENST00000375483.3 + 4 687 c.687C>T c.(685-687)atC>atT p.I229I NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 229 I -> V (in dbSNP:rs2070325). cytoplasm|extracellular region lipid binding GGCTGCGTATCGTGGAGCTGA 0.662000 11 10 0 0 0.00136819 0 0 GRIA1 2890 broad.mit.edu 37 5 153078433 153078433 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:153078433C>T ENST00000285900.5 + 10 1595 c.1252C>T c.(1252-1254)Cct>Tct p.P418S GRIA1_ENST00000518142.1_Missense_Mutation_p.P338S|GRIA1_ENST00000518783.1_Missense_Mutation_p.P428S|GRIA1_ENST00000340592.5_Missense_Mutation_p.P418S|GRIA1_ENST00000521843.2_Missense_Mutation_p.P349S|GRIA1_ENST00000448073.4_Missense_Mutation_p.P428S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 418 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCAGGAAGATCCTTATGTGAT 0.488000 23 41 0 0 0.000586117 0 0 DSP 1832 broad.mit.edu 37 6 7575559 7575559 + Missense_Mutation SNP C C T rs141834182 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:7575559C>T ENST00000379802.3 + 18 2809 c.2468C>T c.(2467-2469)tCg>tTg p.S823L DSP_ENST00000418664.2_Missense_Mutation_p.S823L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 823 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) TTGAAGAAGTCGTTGTTGGCC 0.393000 42 119 0 0 0.00285205 0 0 KIF2C 11004 broad.mit.edu 37 1 45226020 45226020 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:45226020G>A ENST00000372217.1 + 14 1625 c.1274G>A c.(1273-1275)cGa>cAa p.R425Q KIF2C_ENST00000372222.3_Missense_Mutation_p.R366Q|KIF2C_ENST00000372224.4_Missense_Mutation_p.R479Q|KIF2C_ENST00000372218.4_Missense_Mutation_p.R438Q|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA Q99661 KIF2C_HUMAN kinesin family member 2C 479 Kinesin-motor. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) ATTATTCTTCGAGCTAAAGGG 0.527000 25 47 0 0 0.000878237 0 0 WRB 7485 broad.mit.edu 37 21 40765190 40765190 + Missense_Mutation SNP T T A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:40765190T>A ENST00000333781.5 + 4 576 c.435T>A c.(433-435)ttT>ttA p.F145L WRB_ENST00000398753.1_Missense_Mutation_p.F111L|WRB_ENST00000541890.1_Missense_Mutation_p.F145L|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000380708.1_Missense_Mutation_p.F111L NM_004627.4 NP_004618.2 O00258 WRB_HUMAN tryptophan rich basic protein 145 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) TGGTAGCCTTTCCTACTAGAG 0.463000 10 22 0 0 0.000673444 0 0 NEIL2 252969 broad.mit.edu 37 8 11637289 11637289 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11637289C>T ENST00000284503.6 + 3 920 c.321C>T c.(319-321)ctC>ctT p.L107L NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Silent_p.L46L|NEIL2_ENST00000436750.3_Silent_p.L107L|NEIL2_ENST00000455213.2_Silent_p.L107L NM_145043.2 NP_659480.1 Q969S2 NEIL2_HUMAN nei endonuclease VIII-like 2 (E. coli) 107 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) CTGCAGAGCTCGTCCCCCAGG 0.597000 Base excision repair (BER), DNA glycosylases 17 50 0 0 0.00121646 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43628658 43628658 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:43628658G>A ENST00000332857.6 - 3 312 c.284C>T c.(283-285)tCg>tTg p.S95L SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 AAGAAGGTCCGAAGTCTCCTC 0.612000 42 91 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9087822 9087822 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:9087822C>T ENST00000397910.4 - 1 4196 c.3993G>A c.(3991-3993)aaG>aaA p.K1331K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1331 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 AACTTGTATCCTTAGGATCCG 0.522000 16 42 0 0 0.000566183 0 0 FGL2 10875 broad.mit.edu 37 7 76828852 76828852 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:76828852C>T ENST00000248598.5 - 1 291 c.259G>A c.(259-261)Gaa>Aaa p.E87K CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 87 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TTTACGATTTCCTTGAGGTTT 0.507000 18 51 0 0 0.000958276 0 0 CNDP1 84735 broad.mit.edu 37 18 72238423 72238423 + Silent SNP G G C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr18:72238423G>C ENST00000582365.1 + 6 696 c.630G>C c.(628-630)gtG>gtC p.V210V CNDP1_ENST00000358821.3_Silent_p.V253V Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 253 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) CTCTGCAGGTGAAATGCAGAG 0.428000 22 62 0 0 0.00047179 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069466 114069466 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:114069466G>A ENST00000462705.1 - 11 2061 c.1240C>T c.(1240-1242)Ctg>Ttg p.L414L ZBTB20_ENST00000481632.1_Silent_p.L414L|ZBTB20_ENST00000393785.2_Silent_p.L414L|ZBTB20_ENST00000474710.1_Silent_p.L487L|ZBTB20_ENST00000357258.3_Silent_p.L414L|ZBTB20_ENST00000471418.1_Silent_p.L414L|ZBTB20_ENST00000464560.1_Silent_p.L414L NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 487 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GGCATCCTCAGGTTGCTGGTG 0.592000 18 33 0 0 0.00121646 0 0 FAM83B 222584 broad.mit.edu 37 6 54792355 54792355 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:54792355G>A ENST00000306858.7 + 4 775 c.659G>A c.(658-660)gGg>gAg p.G220E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 220 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCAAAAACAGGGGCAAAATTC 0.333000 35 62 0 0 0.000814825 0 0 ATP13A4 84239 broad.mit.edu 37 3 193210763 193210763 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr3:193210763G>A ENST00000342695.4 - 5 798 c.476C>T c.(475-477)tCt>tTt p.S159F ATP13A4_ENST00000295548.3_Missense_Mutation_p.S159F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.S159F NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 159 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TATCTTGGCAGAACTAAGCCA 0.308000 13 37 0 0 0.00244969 0 0 KLF17 128209 broad.mit.edu 37 1 44595472 44595472 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:44595472G>A ENST00000372299.3 + 2 587 c.529G>A c.(529-531)Gtg>Atg p.V177M KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 177 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GAACCCTCCAGTGCCTTACCC 0.597000 27 36 0 0 0.00127121 0 0 CLTCL1 8218 broad.mit.edu 37 22 19221047 19221047 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr22:19221047G>A ENST00000263200.10 - 8 1338 c.1266C>T c.(1264-1266)ctC>ctT p.L422L CLTCL1_ENST00000353891.5_Silent_p.L422L|CLTCL1_ENST00000427926.1_Silent_p.L422L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 422 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GACCCTGGTCGAGCAGGATTC 0.502000 T ? ALCL 9 34 0 0 0.000673444 0 0 CACNG5 27091 broad.mit.edu 37 17 64880956 64880956 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:64880956C>T ENST00000169565.3 + 4 748 c.748C>T c.(748-750)Ccg>Tcg p.P250S CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 0 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) TGGGTCTCCTCCGGCCAGGAT 0.592000 29 41 0 0 0.00178596 0 0 TRERF1 55809 broad.mit.edu 37 6 42231058 42231058 + Splice_Site SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:42231058G>A ENST00000372922.4 - 8 2446 c.1884_splice c.e8+1 p.L628_splice TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Silent_p.L628L NM_033502.2 NP_277037.1 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 628 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCATCCTCACGAGCACAGGCA 0.667000 9 52 0 0 0.000274275 0 0 GPBAR1 151306 broad.mit.edu 37 2 219127952 219127952 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:219127952G>A ENST00000522678.1 + 2 1373 c.505G>A c.(505-507)Gaa>Aaa p.E169K GPBAR1_ENST00000519574.1_Missense_Mutation_p.E169K|GPBAR1_ENST00000521462.1_Missense_Mutation_p.E169K|GPBAR1_ENST00000479077.1_Missense_Mutation_p.E169K NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 169 integral to membrane|plasma membrane G-protein coupled receptor activity p.E169K(2) cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGTACCTCGAAGTCTATGG 0.662000 18 35 0 0 0.00152264 0 0 NBAS 51594 broad.mit.edu 37 2 15674761 15674761 + Nonsense_Mutation SNP C C A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:15674761C>A ENST00000281513.5 - 9 677 c.652G>T c.(652-654)Gga>Tga p.G218* NBAS_ENST00000441750.1_Nonsense_Mutation_p.G218* NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 218 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGATTTGTTCCAACACTAAAT 0.343000 7 149 0.00198382 0.00762708 0.00198382 1 0 CHST15 51363 broad.mit.edu 37 10 125805483 125805483 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr10:125805483G>A ENST00000346248.5 - 2 888 c.246C>T c.(244-246)ctC>ctT p.L82L CHST15_ENST00000435907.1_Silent_p.L82L|CHST15_ENST00000421115.1_Silent_p.L82L NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 82 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 GTCCAAAAACGAGGCTACATC 0.473000 21 21 0 0 0.00152264 0 0 OR1N1 138883 broad.mit.edu 37 9 125289425 125289425 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125289425C>T ENST00000304880.2 - 1 147 c.148G>A c.(148-150)Gac>Aac p.D50N NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 AGGTGCAGGTCAGAGCCAATG 0.498000 30 40 0 0 0.0024448 0 0 LRRC46 90506 broad.mit.edu 37 17 45914246 45914246 + Silent SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:45914246G>A ENST00000269025.4 + 8 1089 c.726G>A c.(724-726)gtG>gtA p.V242V NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 242 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 TACCTGGGGTGCCCATGGCTG 0.672000 16 52 0 0 0.00188189 0 0 ESYT1 23344 broad.mit.edu 37 12 56527655 56527655 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr12:56527655C>T ENST00000394048.5 + 13 1735 c.1471C>T c.(1471-1473)Cct>Tct p.P491S ESYT1_ENST00000267113.4_Missense_Mutation_p.P491S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P491S NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 491 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CCAGGATCTTCCTGTGAGTTT 0.562000 27 49 0 0 0.00209593 0 0 OR1J2 26740 broad.mit.edu 37 9 125273119 125273119 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:125273119C>T ENST00000335302.5 + 1 39 c.39C>T c.(37-39)ctC>ctT p.L13L NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CCGAGTTCCTCCTTCTGGGCC 0.547000 38 146 0 0 0.0025221 0 0 TRPM6 140803 broad.mit.edu 37 9 77442614 77442614 + Splice_Site SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr9:77442614C>T ENST00000359047.2 - 7 1158 c.e7+1 TRPM6_ENST00000451710.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Intron|TRPM6_ENST00000360774.1_Intron|TRPM6_ENST00000483186.1_Intron|TRPM6_ENST00000376864.4_Intron|TRPM6_ENST00000449912.2_Intron|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 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 GGAGAGTGAGCTCTGATGGTC 0.552000 19 12 0 0 0.00121646 0 0 PEG3 5178 broad.mit.edu 37 19 57329146 57329146 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr19:57329146G>A ENST00000326441.9 - 9 1193 c.830C>T c.(829-831)tCc>tTc p.S277F ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S151F|PEG3_ENST00000423103.2_Missense_Mutation_p.S277F|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S153F|ZIM2_ENST00000593711.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 277 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) ACTTCTCTTGGATCTTGATGA 0.517000 11 33 0 0 0.00244969 0 0 ABCA3 21 broad.mit.edu 37 16 2331480 2331480 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:2331480G>A ENST00000301732.5 - 27 4766 c.4066C>T c.(4066-4068)Cct>Tct p.P1356S ABCA3_ENST00000382381.3_Missense_Mutation_p.P1298S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1356 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGGTCCTCAGGAAGCACAGGC 0.597000 15 20 0 0 0.000566183 0 0 TXK 7294 broad.mit.edu 37 4 48114430 48114430 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr4:48114430C>T ENST00000264316.4 - 4 359 c.274G>A c.(274-276)Gat>Aat p.D92N TXK_ENST00000510457.1_5'UTR NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 92 SH3. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 GGCAGAAAATCATAAAGTGCC 0.507000 36 70 0 0 0.00111076 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267899 103267899 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:103267899C>T ENST00000217926.5 - 1 360 c.334G>A c.(334-336)Gac>Aac p.D112N NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 112 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 TCCAATATGTCATGAACCAAA 0.632000 20 14 0 0 0.00229938 0 0 SLC37A1 54020 broad.mit.edu 37 21 43984842 43984842 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:43984842C>T ENST00000352133.2 + 14 2142 c.1160C>T c.(1159-1161)tCa>tTa p.S387L SLC37A1_ENST00000398341.3_Missense_Mutation_p.S387L P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 387 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 GGTGTGATCTCAGACCGACTG 0.667000 9 37 0 0 0.000978159 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839366 100839366 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr7:100839366G>A ENST00000223114.4 - 7 1053 c.887C>T c.(886-888)cCc>cTc p.P296L MOGAT3_ENST00000440203.2_Missense_Mutation_p.P325S|MOGAT3_ENST00000379423.3_Silent_p.P228P NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 296 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CTGGGGGACGGGGATGGGGCG 0.672000 8 6 0 0 0.000157383 0 0 FLG 2312 broad.mit.edu 37 1 152280808 152280808 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:152280808C>T ENST00000368799.1 - 3 6589 c.6554G>A c.(6553-6555)gGa>gAa p.G2185E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2185 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) ACTTCTGGATCCTGACTGCCC 0.537000 Ichthyosis 34 369 0 0 0.000781405 0 0 ZNF165 7718 broad.mit.edu 37 6 28054062 28054062 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:28054062C>T ENST00000377325.1 + 3 1080 c.524C>T c.(523-525)tCa>tTa p.S175L NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 175 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTTGATTCATCAGAACCCCAG 0.463000 17 55 0 0 0.000958276 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151204160 151204160 + Frame_Shift_Del DEL C C - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:151204160delC ENST00000409426.1 + 4 660 c.215delC c.(214-216)gcfs p.A72fs PIP5K1A_ENST00000368890.4_Frame_Shift_Del_p.A71fs|PIP5K1A_ENST00000368888.4_Frame_Shift_Del_p.A84fs|PIP5K1A_ENST00000441902.2_Frame_Shift_Del_p.A72fs Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 84 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) ACCTCATCAGCCTTGAAAGGT 0.433 22 63 --- --- --- --- CEP350 9857 broad.mit.edu 37 1 179983057 179983065 + In_Frame_Del DEL GTTCGAGAA GTTCGAGAA - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr1:179983057_179983065delGTTCGAGAA ENST00000367607.3 + 10 1887_1895 c.1469_1477delGTTCGAGAA c.(1468-1479)cgt>c p.RSRS490del NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 490 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AACTCAGAACGTTCGAGAAGTAAATCTCG 0.373 22 71 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179439386 179439393 + Frame_Shift_Del DEL TAAATGGA TAAATGGA - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr2:179439386_179439393delTAAATGGA ENST00000589042.1 - 326 71690_71697 c.71466_71473delTCCATTTA c.(71464-71475)taagfs p.YPFK23822fs TTN_ENST00000591111.1_Frame_Shift_Del_p.YPFK22181fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.YPFK21254fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.YPFK14882fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.YPFK14949fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.YPFK14757fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22181 Fibronectin type-III 73. 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) CCAGGAACCTTAAATGGATAGTTGGCAA 0.471 16 56 --- --- --- --- SLC25A2 83884 broad.mit.edu 37 5 140682838 140682839 + Frame_Shift_Ins INS - - A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr5:140682838_140682839insA ENST00000239451.4 - 1 773_774 c.594_595insT c.(592-597)ttcgtcfs p.V199fs NM_031947.2 NP_114153.1 Q9BXI2 ORNT2_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 199 mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CTCCCTGACGCAAAAAACGATC 0.475 31 100 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097086 32097086 + Frame_Shift_Del DEL C C - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr6:32097086delC ENST00000375156.3 - 2 742 c.472delG c.(472-474)agfs p.E158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity TCTATGAGCTCCCCCCAAGTT 0.587 7 776 --- --- --- --- FAM66D 100132923 broad.mit.edu 37 8 11994579 11994580 + RNA DEL TG TG - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr8:11994579_11994580delTG ENST00000434078.2 + 0 608 NR_027425.1 TGTTCgtgtttgtgtgtgtgtg 0.505 3 3 --- --- --- --- B2M 567 broad.mit.edu 37 15 45003781 45003784 + Frame_Shift_Del DEL CTCT CTCT - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr15:45003781_45003784delCTCT ENST00000558401.1 + 1 107_110 c.37_40delCTCT c.(37-42)ctfs p.LS15fs B2M_ENST00000544417.1_Frame_Shift_Del_p.LS15fs|B2M_ENST00000559916.1_Frame_Shift_Del_p.LS15fs NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 15 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.L15fs*41(4)|p.A11fs*42(1)|p.L13F(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GCTCGCGCTACTCTCTCTTTCTGG 0.613 18 29 --- --- --- --- WFIKKN1 117166 broad.mit.edu 37 16 683416 683416 + Frame_Shift_Del DEL G G - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr16:683416delG ENST00000319070.2 + 2 1328 c.1006delG c.(1006-1008)ggfs p.G336fs NM_053284.2 NP_444514.1 Q96NZ8 WFKN1_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 336 BPTI/Kunitz inhibitor 1. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(780;0.00335) TGGCTGTGATGGGGCGGCCCG 0.736 2 4 --- --- --- --- EFTUD2 9343 broad.mit.edu 37 17 42932017 42932017 + Frame_Shift_Del DEL G G - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr17:42932017delG ENST00000426333.2 - 22 2463 c.2166delC c.(2164-2166)tafs p.Y722fs EFTUD2_ENST00000592576.1_Frame_Shift_Del_p.Y712fs|EFTUD2_ENST00000402521.3_Frame_Shift_Del_p.Y687fs|EFTUD2_ENST00000591382.1_Frame_Shift_Del_p.Y722fs NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 722 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GATCCCAATCGTACTTGGTCT 0.572 40 56 --- --- --- --- TP53INP2 58476 broad.mit.edu 37 20 33296571 33296571 + Frame_Shift_Del DEL T T - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr20:33296571delT ENST00000374810.3 + 3 417 c.28delT c.(28-30)tcfs p.F10fs NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Frame_Shift_Del_p.F10fs NM_021202.1 NP_067025.1 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 10 nucleus endometrium(1)|urinary_tract(1) 2 CAGCCTCTTCTTCAGCACCCC 0.652 2 4 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11180762 11180762 + RNA DEL T T - rs146742149 TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:11180762delT ENST00000603265.1 + 0 231 aACTAACTTCTTTTTTTTTTT 0.348 4 8 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343637 15343638 + RNA INS - - T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chr21:15343637_15343638insT ENST00000344693.5 - 0 736 NR_027270.1 AAAATTACATATTTCTCAACTG 0.312 21 68 --- --- --- --- AP1S2 8905 broad.mit.edu 37 X 15845465 15845465 + Frame_Shift_Del DEL C C - TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e4aefb6-3828-48cd-8e98-a49d78bc3999 7824f747-1486-4558-abb1-236a3e1ee681 g.chrX:15845465delC ENST00000329235.2 - 5 700 c.457delG c.(457-459)aafs p.E153fs NM_001272071.1|NM_003916.3 NP_001259000.1|NP_003907.3 P56377 AP1S2_HUMAN adaptor-related protein complex 1, sigma 2 subunit 153 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein transporter activity large_intestine(1) 1 Hepatocellular(33;0.183) AGTCCAATTTCTTCAAGAACA 0.453 55 28 --- --- --- ---