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 HYDIN 54768 broad.mit.edu 37 16 70867977 70867977 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:70867977G>A ENST00000393567.2 - 79 13642 c.13492C>T c.(13492-13494)Cct>Tct p.P4498S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4498 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) GAGAAGGGAGGGACACGCTTC 0.557000 6 32 0 0 0.001984 0 0 NEU4 129807 broad.mit.edu 37 2 242756232 242756232 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:242756232C>T ENST00000391969.2 + 4 1056 c.345C>T c.(343-345)atC>atT p.I115I NEU4_ENST00000405370.1_Silent_p.I115I|NEU4_ENST00000407683.1_Silent_p.I115I|NEU4_ENST00000325935.6_Silent_p.I128I|NEU4_ENST00000404257.1_Silent_p.I127I NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 115 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCGTGCAGATCGCCACGGGAA 0.701000 4 3 0 0 0.009096 0 0 HTRA1 5654 broad.mit.edu 37 10 124249077 124249077 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:124249077T>C ENST00000368984.3 + 3 840 c.712T>C c.(712-714)Tac>Cac p.Y238H NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 238 Serine protease. 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) CGGTGCCACTTACGAAGCCAA 0.498000 23 46 0 0 0.014323 0 0 PAPL 390928 broad.mit.edu 37 19 39591408 39591408 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:39591408C>T ENST00000331256.5 + 7 996 c.722C>T c.(721-723)tCc>tTc p.S241F PAPL_ENST00000594229.1_Missense_Mutation_p.P200S NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 241 extracellular region acid phosphatase activity|metal ion binding CACATCATCTCCTTCTCCACC 0.607000 23 41 0 0 0.004656 0 0 GALNTL6 442117 broad.mit.edu 37 4 173150813 173150813 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:173150813C>T ENST00000506823.1 + 3 802 c.145C>T c.(145-147)Cca>Tca p.P49S GALNTL6_ENST00000508122.1_Missense_Mutation_p.P32S NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 49 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ACAGACATTTCCACTGGGCCT 0.433000 16 33 0 0 0.003163 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80918991 80918991 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:80918991C>T ENST00000576599.1 - 8 1084 c.334G>A c.(334-336)Gac>Aac p.D112N B3GNTL1_ENST00000320865.3_Missense_Mutation_p.D223N|B3GNTL1_ENST00000571954.1_5'UTR Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 223 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AGACTCTGGTCCACGCGGATG 0.697000 18 22 0 0 0.007413 0 0 ZNF425 155054 broad.mit.edu 37 7 148802070 148802070 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:148802070C>T ENST00000378061.2 - 4 1025 c.893G>A c.(892-894)gGg>gAg p.G298E NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 298 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CGGCCGCTCCCCGCGGTGTAG 0.667000 13 28 0 0 0.013537 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302184 128302184 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:128302184C>T ENST00000262462.4 + 1 1364 c.354C>T c.(352-354)ttC>ttT p.F118F SLC27A6_ENST00000506176.1_Silent_p.F118F|SLC27A6_ENST00000395266.1_Silent_p.F118F Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 118 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGCCGGACTTCGTTCACGTGT 0.567000 9 45 0 0 0.006214 0 0 ZPBP2 124626 broad.mit.edu 37 17 38027043 38027043 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:38027043G>A ENST00000377940.3 + 2 288 c.149G>A c.(148-150)tGg>tAg p.W50* ZPBP2_ENST00000584588.1_Nonsense_Mutation_p.W72*|ZPBP2_ENST00000348931.4_Nonsense_Mutation_p.W72* NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 72 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) ACCTACTTATGGATTGGGCCT 0.294000 34 55 0 0 0.007835 0 0 FSTL5 56884 broad.mit.edu 37 4 162306931 162306931 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:162306931C>T ENST00000306100.5 - 16 2948 c.2512G>A c.(2512-2514)Gga>Aga p.G838R FSTL5_ENST00000379164.4_Missense_Mutation_p.G837R|FSTL5_ENST00000427802.2_Missense_Mutation_p.G828R|FSTL5_ENST00000536695.1_Missense_Mutation_p.G837R|RP11-234O6.2_ENST00000508189.1_RNA NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 838 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ACTGTATTTCCTTTTTCAACT 0.358000 11 19 0 0 0.010729 0 0 SCN3A 6328 broad.mit.edu 37 2 165994396 165994396 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:165994396C>T ENST00000360093.3 - 15 2875 c.2384G>A c.(2383-2385)gGa>gAa p.G795E SCN3A_ENST00000283254.7_Missense_Mutation_p.G795E|SCN3A_ENST00000409101.3_Missense_Mutation_p.G746E NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 795 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TACCAGGTTTCCTACAGTCAA 0.398000 9 9 0 0 0.006214 0 0 AKR1D1 6718 broad.mit.edu 37 7 137792307 137792307 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:137792307G>A ENST00000242375.3 + 7 878 c.836G>A c.(835-837)aGg>aAg p.R279K AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.R238K|AKR1D1_ENST00000432161.1_Missense_Mutation_p.R279K NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 279 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 AATCTTGAAAGGATCAAAGAA 0.358000 20 54 0 0 0.008871 0 0 OR6C4 341418 broad.mit.edu 37 12 55945195 55945195 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:55945195G>A ENST00000394256.2 + 1 213 c.185G>A c.(184-186)cGg>cAg p.R62Q RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TTCTTCCTCCGGAATTTCTCC 0.433000 9 37 0 0 0.008291 0 0 ME1 4199 broad.mit.edu 37 6 84061792 84061792 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:84061792A>T ENST00000369705.3 - 4 545 c.429T>A c.(427-429)gaT>gaA p.D143E ME1_ENST00000543031.1_Missense_Mutation_p.D68E|ME1_ENST00000541327.1_5'UTR NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 143 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) CCTTGATGACATCTTCTGGCC 0.318000 3 4 0 0 0.009096 0 0 CTNNA3 29119 broad.mit.edu 37 10 67829077 67829077 + Silent SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:67829077T>G ENST00000433211.1 - 15 2322 c.2148A>C c.(2146-2148)acA>acC p.T716T CTNNA3_ENST00000373744.4_Silent_p.T716T|CTNNA3_ENST00000373735.1_Silent_p.T55T NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 716 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TAGTGAAGTCTGTCATCTCCA 0.368000 24 54 0 0 0.018920 0 0 SULF1 23213 broad.mit.edu 37 8 70541836 70541836 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:70541836G>A ENST00000260128.4 + 19 2923 c.2206G>A c.(2206-2208)Ggg>Agg p.G736R SULF1_ENST00000402687.4_Missense_Mutation_p.G736R|SULF1_ENST00000458141.2_Missense_Mutation_p.G736R|SULF1_ENST00000419716.3_Missense_Mutation_p.G736R|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 736 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) GCAGAGGAAGGGGGAAGAGTG 0.537000 28 87 0 0 0.008361 0 0 THBS3 7059 broad.mit.edu 37 1 155167720 155167720 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:155167720C>T ENST00000368378.3 - 19 2274 c.e19-1 RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000487250.1_Splice_Site|THBS3_ENST00000541990.1_Splice_Site|THBS3_ENST00000541576.1_Splice_Site|THBS3_ENST00000457183.2_Splice_Site|THBS3_ENST00000428962.2_Splice_Site NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) 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) TTTCCATGCCCTGGGGTTGTA 0.517000 15 82 0 0 0.020292 0 0 SLC5A8 160728 broad.mit.edu 37 12 101581199 101581199 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:101581199G>A ENST00000536262.2 - 7 1486 c.928C>T c.(928-930)Cct>Tct p.P310S NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 310 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 GCTGTCCAAGGATCACAGTCA 0.438000 4 16 0 0 0.014758 0 0 DSG4 147409 broad.mit.edu 37 18 28993144 28993144 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:28993144G>A ENST00000359747.4 + 15 2795 c.2766G>A c.(2764-2766)ggG>ggA p.G922G RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.G903G NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 903 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) TGGTCCATGGGGATATTATTG 0.428000 31 97 0 0 0.013726 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403409 69403409 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:69403409G>A ENST00000317746.2 - 6 1569 c.1527C>T c.(1525-1527)atC>atT p.I509I NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 509 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 AACATTTTGTGATCATAAATA 0.443000 26 16 0 0 0.018920 0 0 SEC31B 25956 broad.mit.edu 37 10 102249886 102249886 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:102249886G>A ENST00000370345.3 - 21 2941 c.2844C>T c.(2842-2844)ggC>ggT p.G948G NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 948 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGACCATGCGGCCGGGACCTA 0.622000 21 69 0 0 0.014323 0 0 DENND4A 10260 broad.mit.edu 37 15 66025116 66025116 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:66025116G>A ENST00000443035.3 - 8 1296 c.1081C>T c.(1081-1083)Cct>Tct p.P361S DENND4A_ENST00000431932.2_Missense_Mutation_p.P361S NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 361 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GGTCTCTGAGGAGATGGAAAA 0.343000 6 21 0 0 0.001984 0 0 GDF2 2658 broad.mit.edu 37 10 48416646 48416646 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:48416646C>T ENST00000249598.1 - 1 207 c.48G>A c.(46-48)ctG>ctA p.L16L NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 16 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GGGAGCCAGCCAGCAGGGACA 0.682000 7 16 0 0 0.004482 0 0 ZNF248 57209 broad.mit.edu 37 10 38126603 38126603 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:38126603G>A ENST00000395867.3 - 5 730 c.180C>T c.(178-180)atC>atT p.I60I ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000374648.3_Silent_p.I60I|ZNF248_ENST00000357328.4_Silent_p.I60I NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I60I(1) NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CTCCTTGCTCGATCTTAAAGA 0.428000 12 15 0 0 0.013537 0 0 PDK3 5165 broad.mit.edu 37 X 24521544 24521544 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:24521544C>T ENST00000441463.2 + 4 421 c.421C>T c.(421-423)Cct>Tct p.P141S PDK3_ENST00000379162.4_Missense_Mutation_p.P141S NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 141 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 TGGGTTTGATCCTTTCATTAG 0.378000 15 16 0 0 0.004007 0 0 ELAC2 60528 broad.mit.edu 37 17 12898087 12898087 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:12898087G>A ENST00000338034.4 - 21 2262 c.2023C>T c.(2023-2025)Cgg>Tgg p.R675W ELAC2_ENST00000426905.3_Missense_Mutation_p.R635W|ELAC2_ENST00000395962.2_Missense_Mutation_p.R656W NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 675 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 TCACCCATCCGGACCAGAGCC 0.602000 5 15 0 0 0.001984 0 0 ACSM5 54988 broad.mit.edu 37 16 20448599 20448599 + Silent SNP C C T rs9652590 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:20448599C>T ENST00000331849.4 + 12 1593 c.1446C>T c.(1444-1446)atC>atT p.I482I NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 482 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GCTACCGGATCGGGCCTGTTG 0.552000 23 64 0 0 0.021523 0 0 REST 5978 broad.mit.edu 37 4 57796419 57796419 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:57796419C>T ENST00000309042.7 + 4 1709 c.1395C>T c.(1393-1395)tcC>tcT p.S465S NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 465 Lys-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) ATGAAAAGTCCGTCAAAGCAG 0.373000 8 26 0 0 0.003080 0 0 AMPD1 270 broad.mit.edu 37 1 115229518 115229518 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:115229518G>A ENST00000369538.3 - 3 363 c.316C>T c.(316-318)Caa>Taa p.Q106* AMPD1_ENST00000520113.2_Nonsense_Mutation_p.Q110*|AMPD1_ENST00000353928.6_Nonsense_Mutation_p.Q77* NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 77 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TTCCGTCCTTGGAAACGCTTT 0.358000 13 46 0 0 0.003163 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77528660 77528660 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:77528660G>A ENST00000477717.1 + 5 1015 c.779_splice c.e5-1 p.R260_splice NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 260 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 CCTCCTACAGGGATCCCAATC 0.368000 6 23 0 0 0.001984 0 0 CUTA 51596 broad.mit.edu 37 6 33385890 33385890 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:33385890A>G ENST00000374500.5 - 1 204 c.73T>C c.(73-75)Ttt>Ctt p.F25L CUTA_ENST00000492510.1_5'UTR|CUTA_ENST00000488034.1_5'UTR NM_001014433.2 NP_001014433.1 O60888 CUTA_HUMAN cutA divalent cation tolerance homolog (E. coli) 0 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 TGATTAGAAAACAGCGCGCAC 0.572000 43 51 0 0 0.014410 0 0 PSG2 5670 broad.mit.edu 37 19 43575951 43575951 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:43575951G>A ENST00000406487.1 - 4 963 c.865C>T c.(865-867)Ccc>Tcc p.P289S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 289 Ig-like C2-type 2. 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) GTAATTTGGGGGATAAACAGA 0.458000 31 122 0 0 0.009535 0 0 CAMKK2 10645 broad.mit.edu 37 12 121712110 121712110 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:121712110G>A ENST00000324774.5 - 2 1048 c.220C>T c.(220-222)Ctg>Ttg p.L74L CAMKK2_ENST00000402834.4_Silent_p.L74L|CAMKK2_ENST00000347034.2_Silent_p.L74L|CAMKK2_ENST00000538733.1_Silent_p.L74L|CAMKK2_ENST00000412367.2_Silent_p.L74L|CAMKK2_ENST00000337174.3_Silent_p.L74L|CAMKK2_ENST00000392473.2_Silent_p.L74L|CAMKK2_ENST00000404169.3_Silent_p.L74L|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000446440.2_Silent_p.L74L|CAMKK2_ENST00000392474.2_Silent_p.L74L NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 74 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGGCCTCCAGGGGCCGGTCC 0.677000 74 177 0 0 0.014410 0 0 SV2A 9900 broad.mit.edu 37 1 149878275 149878275 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:149878275C>T ENST00000369146.3 - 11 2302 c.1812G>A c.(1810-1812)ggG>ggA p.G604G SV2A_ENST00000369145.1_Silent_p.G604G NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 604 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) CTGCCAGTGTCCCCAGGAAGC 0.547000 43 70 0 0 0.014410 0 0 MXRA5 25878 broad.mit.edu 37 X 3239114 3239114 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:3239114C>T ENST00000217939.6 - 5 4766 c.4612G>A c.(4612-4614)Gaa>Aaa p.E1538K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1538 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) GCTTCTGTTTCTGGATTCCCC 0.433000 30 20 0 0 0.009535 0 0 FAAH2 158584 broad.mit.edu 37 X 57337090 57337090 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:57337090G>A ENST00000374900.4 + 3 460 c.340G>A c.(340-342)Gaa>Aaa p.E114K NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 114 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 GCAGGAAGATGAAGCCACCCT 0.408000 HNSCC(52;0.14) 3 4 0 0 0.004672 0 0 RSPH9 221421 broad.mit.edu 37 6 43638553 43638553 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:43638553G>A ENST00000372163.4 + 5 751 c.698G>A c.(697-699)gGc>gAc p.G233D RSPH9_ENST00000372165.4_Silent_p.G250G NM_152732.4 NP_689945.2 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 233 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATGGAGAGGGGCAATGCCCTG 0.637000 Kartagener syndrome 26 45 0 0 0.010818 0 0 WASH3P 374666 broad.mit.edu 37 15 102516448 102516448 + RNA SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:102516448C>G ENST00000557932.1 + 0 1396 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CAGAGGAGGACGAGGACGACT 0.657000 4 71 0 0 0.009096 0 0 CDC5L 988 broad.mit.edu 37 6 44413591 44413591 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:44413591C>T ENST00000371477.3 + 15 2590 c.2291C>T c.(2290-2292)cCc>cTc p.P764L NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 764 Interaction with PLRG1. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTGCTATTCCCCGGAGGCTA 0.398000 7 32 0 0 0.001984 0 0 SLC47A1 55244 broad.mit.edu 37 17 19458545 19458545 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:19458545C>T ENST00000270570.4 + 7 650 c.564C>T c.(562-564)atC>atT p.I188I SLC47A1_ENST00000395585.1_Silent_p.I188I|SLC47A1_ENST00000542886.1_Intron|SLC47A1_ENST00000457293.1_Silent_p.I188I|SLC47A1_ENST00000436810.2_Silent_p.I165I|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Intron NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 188 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TGCCCCAGATCGTAACTGGAG 0.507000 52 102 0 0 0.014410 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704233 29704233 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:29704233G>A ENST00000471961.1 + 1 1186 c.138G>A c.(136-138)ccG>ccA p.P46P GAS2L1_ENST00000403764.1_Silent_p.P46P|GAS2L1_ENST00000406549.3_Silent_p.P46P|GAS2L1_ENST00000341313.6_Silent_p.P46P|GAS2L1_ENST00000360113.2_Silent_p.P46P|GAS2L1_ENST00000407647.2_Silent_p.P46P|GAS2L1_ENST00000407854.1_Silent_p.P46P Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 46 CH. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TGGGTCTCCCGGGTGGTGGCG 0.672000 5 5 0 0 0.001168 0 0 ABCC8 6833 broad.mit.edu 37 11 17428582 17428582 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:17428582G>A ENST00000302539.4 - 25 3143 c.3018C>T c.(3016-3018)tcC>tcT p.S1006S ABCC8_ENST00000389817.3_Silent_p.S1005S NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1005 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGCCGGCGGAGGACAGGTACT 0.617000 70 197 0 0 0.014410 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671373 31671373 + Missense_Mutation SNP C C T rs140887073 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:31671373C>T ENST00000375483.3 + 3 370 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 124 cytoplasm|extracellular region lipid binding CAGTGGCTATCGCAGTGCCGA 0.592000 23 63 0 0 0.018920 0 0 EZH2 2146 broad.mit.edu 37 7 148508726 148508726 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:148508726G>A ENST00000320356.2 - 16 2059 c.1938C>T c.(1936-1938)taC>taT p.Y646Y EZH2_ENST00000541220.1_Silent_p.Y590Y|EZH2_ENST00000350995.2_Silent_p.Y602Y|EZH2_ENST00000483967.1_Silent_p.Y632Y|EZH2_ENST00000460911.1_Silent_p.Y641Y|EZH2_ENST00000478654.1_Silent_p.Y590Y|EZH2_ENST00000476773.1_Silent_p.Y590Y NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 641 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CCTCTCCACAGTATTCTGAGA 0.378000 Mis DLBCL 8 32 0 0 0.004482 0 0 SIRT7 51547 broad.mit.edu 37 17 79875933 79875933 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:79875933C>T ENST00000328666.6 - 1 137 c.75G>A c.(73-75)caG>caA p.Q25Q NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 25 Arg-rich. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGCGCTCCCTCTGCTGCTCCT 0.771000 14 23 0 0 0.020292 0 0 SYTL2 54843 broad.mit.edu 37 11 85435165 85435165 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:85435165C>T ENST00000359152.5 - 1 3906 c.3907G>A c.(3907-3909)Gag>Aag p.E1303K SYTL2_ENST00000525423.1_Missense_Mutation_p.E779K|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E779K|SYTL2_ENST00000389960.4_Intron NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 460 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCCTCTTTCTCTTGTTTCATA 0.388000 21 47 0 0 0.010504 0 0 ABCD2 225 broad.mit.edu 37 12 40012795 40012795 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:40012795T>C ENST00000308666.3 - 1 758 c.623A>G c.(622-624)cAa>cGa p.Q208R NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 208 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CGTAAGAGATTGGTCAGGGTT 0.403000 14 32 0 0 0.020292 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643088 1643088 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:1643088C>T ENST00000399682.1 - 1 280 c.236G>A c.(235-237)gGg>gAg p.G79E NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 79 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) GCCATAGCCCCCCTTGGAGCC 0.667000 32 93 0 0 0.013726 0 0 MYO5B 4645 broad.mit.edu 37 18 47527636 47527636 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:47527636G>A ENST00000285039.7 - 5 900 c.601C>T c.(601-603)Ccc>Tcc p.P201S NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 201 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCCATGATGGGACTGGATGCC 0.592000 22 70 0 0 0.012319 0 0 IGSF1 3547 broad.mit.edu 37 X 130408775 130408775 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:130408775G>A ENST00000370904.1 - 24 4432 c.3522C>T c.(3520-3522)tgC>tgT p.C1174C IGSF1_ENST00000370903.3_Silent_p.C1188C|IGSF1_ENST00000361420.3_Silent_p.C1183C|IGSF1_ENST00000370910.1_Silent_p.C1174C Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1183 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGGGTCCTCGGCACTGAAGGG 0.507000 30 44 0 0 0.006320 0 0 PDE6A 5145 broad.mit.edu 37 5 149314188 149314188 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:149314188C>T ENST00000255266.5 - 2 687 c.568G>A c.(568-570)Gcc>Acc p.A190T NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 190 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATGATTATGGCCACCACATCC 0.448000 22 97 0 0 0.016522 0 0 C4orf51 646603 broad.mit.edu 37 4 146651099 146651099 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:146651099G>A ENST00000438731.1 + 5 483 c.483G>A c.(481-483)ggG>ggA p.G161G NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 161 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 GTCGACGAGGGAAAGGTGTCC 0.483000 17 66 0 0 0.004990 0 0 TPTE2 93492 broad.mit.edu 37 13 20025334 20025334 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:20025334C>T ENST00000400230.2 - 11 817 c.773G>A c.(772-774)cGa>cAa p.R258Q TPTE2_ENST00000390680.2_Missense_Mutation_p.R181Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R258Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R181Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R218Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R218Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R147Q Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 258 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 p.R181Q(2) 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) ATAGTGGTTTCGATGTTTCTT 0.363000 4 19 0 0 0.014758 0 0 FOXP1 27086 broad.mit.edu 37 3 71008430 71008430 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:71008430C>T ENST00000318789.4 - 21 2527 c.2002G>A c.(2002-2004)Gaa>Aaa p.E668K FOXP1_ENST00000475937.1_Missense_Mutation_p.E668K|FOXP1_ENST00000468577.1_Missense_Mutation_p.E604K|FOXP1_ENST00000498215.1_Missense_Mutation_p.E668K|FOXP1_ENST00000493089.1_Missense_Mutation_p.E667K|FOXP1_ENST00000484350.1_Missense_Mutation_p.E592K|FOXP1_ENST00000491238.1_Missense_Mutation_p.E670K NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 668 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGTTCATCTTCGTAATCTCTG 0.478000 T PAX5 ALL 40 123 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13885137 13885137 + Missense_Mutation SNP G G A rs143673459 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:13885137G>A ENST00000265104.4 - 19 3048 c.2944C>T c.(2944-2946)Cgc>Tgc p.R982C CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 982 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) ATACGTTTGCGAATGGCCTCT 0.438000 Kartagener syndrome 18 86 0 0 0.006122 0 0 ZNF831 128611 broad.mit.edu 37 20 57829603 57829603 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:57829603G>A ENST00000371030.2 + 5 4839 c.4839G>A c.(4837-4839)agG>agA p.R1613R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1613 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) GTGACGGTAGGAAACGTCAGG 0.493000 23 48 0 0 0.004656 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88211343 88211343 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:88211343G>A ENST00000357081.3 - 18 2501 c.2357C>T c.(2356-2358)tCg>tTg p.S786L AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S798L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S746L Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 786 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 TTCCTGAACCGAATACATGAG 0.313000 6 26 0 0 0.004482 0 0 AADACL2 344752 broad.mit.edu 37 3 151458570 151458570 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:151458570G>A ENST00000356517.3 + 2 384 c.275G>A c.(274-276)cGa>cAa p.R92Q NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 92 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) ATTCCAGTACGATTGTACTTG 0.378000 9 17 0 0 0.004482 0 0 RGS8 85397 broad.mit.edu 37 1 182616032 182616032 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:182616032G>A ENST00000483095.2 - 7 638 c.381C>T c.(379-381)acC>acT p.T127T RGS8_ENST00000258302.4_Silent_p.T145T|RGS8_ENST00000367556.1_Silent_p.T127T|RGS8_ENST00000367557.4_Silent_p.T127T P57771 RGS8_HUMAN regulator of G-protein signaling 8 127 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 TGGCTTCTCGGGTCTGGAAGT 0.507000 34 129 0 0 0.019004 0 0 GPR98 84059 broad.mit.edu 37 5 90074268 90074268 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:90074268G>A ENST00000405460.2 + 63 12787 c.12691G>A c.(12691-12693)Gaa>Aaa p.E4231K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4231 Calx-beta 28. 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) CATTCCCGAGGAAAAAAGCTT 0.443000 7 10 0 0 0.001984 0 0 ANO2 57101 broad.mit.edu 37 12 5672572 5672572 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:5672572G>T ENST00000356134.5 - 27 2964 c.2893C>A c.(2893-2895)Cca>Aca p.P965T ANO2_ENST00000546188.1_Missense_Mutation_p.P965T|ANO2_ENST00000327087.8_Missense_Mutation_p.P964T NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 969 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 CCACCTCCTGGGCTCCTCAGA 0.562000 4 6 2.56e-06 2.66209e-06 0.009096 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76071779 76071779 + RNA SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:76071779A>T ENST00000395215.3 + 0 291 AAGCTCCGCAATAATCAATCA 0.502000 5 21 0 0 0.014758 0 0 GPR115 221393 broad.mit.edu 37 6 47682221 47682221 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:47682221C>T ENST00000283303.2 + 6 1498 c.1240C>T c.(1240-1242)Cta>Tta p.L414L GPR115_ENST00000327753.3_Silent_p.L414L|GPR115_ENST00000371220.1_Silent_p.L471L NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 414 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 CGTCTCAATCCTAAGCTTGGT 0.488000 17 43 0 0 0.008871 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323993 79323993 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:79323993G>A ENST00000428286.1 - 8 3320 c.2120C>T c.(2119-2121)tCc>tTc p.S707F PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1066F Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1066 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATCCTCCATGGAGATATTCTT 0.453000 22 64 0 0 0.014323 0 0 TDRD1 56165 broad.mit.edu 37 10 115961172 115961172 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:115961172C>T ENST00000251864.2 + 5 686 c.533C>T c.(532-534)tCg>tTg p.S178L TDRD1_ENST00000369282.1_Missense_Mutation_p.S178L|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.S178L|TDRD1_ENST00000369281.2_Missense_Mutation_p.S178L NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 178 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) TTTCTAGGATCGCTGAGGTGC 0.458000 9 37 0 0 0.010729 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994883 140994883 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:140994883C>T ENST00000285879.4 + 4 1979 c.1693C>T c.(1693-1695)Cct>Tct p.P565S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 565 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) TCACTACTTTCCTCAGAGCCC 0.572000 HNSCC(15;0.026) 113 108 0 0 0.014410 0 0 SULF1 23213 broad.mit.edu 37 8 70536400 70536400 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:70536400G>A ENST00000260128.4 + 15 2535 c.1818G>A c.(1816-1818)gtG>gtA p.V606V SULF1_ENST00000402687.4_Silent_p.V606V|SULF1_ENST00000458141.2_Silent_p.V606V|SULF1_ENST00000419716.3_Silent_p.V606V|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 606 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) GCAACGCCGTGGGCCCACCTA 0.512000 15 38 0 0 0.004990 0 0 AKNA 80709 broad.mit.edu 37 9 117108288 117108288 + Splice_Site SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:117108288A>G ENST00000307564.4 - 18 3677 c.3514_splice c.e18-1 p.S1172_splice AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Splice_Site_p.S117_splice|AKNA_ENST00000223791.3_Splice_Site_p.S632_splice|AKNA_ENST00000374088.3_Splice_Site_p.S1172_splice|AKNA_ENST00000374075.5_Splice_Site_p.S1091_splice NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1172 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 CAGATTCTGAACCTGGGGTAG 0.572000 8 19 0 0 0.004482 0 0 SENP6 26054 broad.mit.edu 37 6 76412391 76412391 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:76412391C>T ENST00000370014.3 + 19 2938 c.2319C>T c.(2317-2319)ttC>ttT p.F773F SENP6_ENST00000447266.2_Silent_p.F773F|SENP6_ENST00000370010.2_Silent_p.F766F|SENP6_ENST00000541192.1_Intron NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 773 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTGTTTGTTTCCCCGGTTTGG 0.318000 9 17 0 0 0.008291 0 0 SMOC1 64093 broad.mit.edu 37 14 70459163 70459163 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:70459163G>A ENST00000381280.4 + 6 809 c.556G>A c.(556-558)Gag>Aag p.E186K SMOC1_ENST00000361956.3_Missense_Mutation_p.E186K NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 186 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ACCCACGATGGAGACCCAGCC 0.438000 8 35 0 0 0.016723 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708565 108708565 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:108708565G>A ENST00000218006.2 - 3 1129 c.838C>T c.(838-840)Cct>Tct p.P280S NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 280 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCATCATAAGGAACAAAGACG 0.473000 34 36 0 0 0.019004 0 0 DNAH5 1767 broad.mit.edu 37 5 13794115 13794115 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:13794115G>A ENST00000265104.4 - 48 8044 c.7940C>T c.(7939-7941)cCt>cTt p.P2647L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2647 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTCCCGCAGGAGGGCCATA 0.368000 Kartagener syndrome 17 24 0 0 0.006122 0 0 C10orf71 118461 broad.mit.edu 37 10 50531128 50531128 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:50531128C>T ENST00000374144.3 + 3 826 c.538C>T c.(538-540)Cca>Tca p.P180S C10orf71_ENST00000323868.4_Missense_Mutation_p.P180S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 180 endometrium(1) 1 CGCTCCTCTTCCAGAAAACAG 0.522000 13 34 0 0 0.013537 0 0 THSD7A 221981 broad.mit.edu 37 7 11446644 11446644 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:11446644G>A ENST00000423059.3 - 21 4206 c.3955C>T c.(3955-3957)Caa>Taa p.Q1319* AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1319 TSP type-1 13. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCATCACCTTGAAAGGGCTGG 0.468000 HNSCC(18;0.044) 6 12 0 0 0.001168 0 0 PSG9 5678 broad.mit.edu 37 19 43763210 43763210 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:43763210C>T ENST00000418820.2 - 3 606 c.508G>A c.(508-510)Gaa>Aaa p.E170K PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.E170K|PSG9_ENST00000270077.3_Missense_Mutation_p.E263K|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 170 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.493000 91 215 0 0 0.014410 0 0 OTOA 146183 broad.mit.edu 37 16 21716602 21716602 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:21716602G>A ENST00000388958.3 + 11 1094 c.1093G>A c.(1093-1095)Ggc>Agc p.G365S OTOA_ENST00000286149.4_Missense_Mutation_p.G379S|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388956.4_Missense_Mutation_p.G286S|OTOA_ENST00000388957.3_Missense_Mutation_p.G41S NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 379 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) CTTCCAGGCTGGCGTCCAGAA 0.557000 28 59 0 0 0.010818 0 0 ROR2 4920 broad.mit.edu 37 9 94538090 94538090 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:94538090C>T ENST00000375708.3 - 2 306 c.108G>A c.(106-108)gaG>gaA p.E36E ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 36 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 GATCCAGAACCTCCACTTCAC 0.483000 OREG0019308 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 27 0 0 0.001984 0 0 MAP3K14 9020 broad.mit.edu 37 17 43350993 43350993 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:43350993G>A ENST00000344686.2 - 0 1658 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 CCGCCCCGGGGAGGAAGAGGA 0.622000 7 9 0 0 0.003080 0 0 SRPK2 6733 broad.mit.edu 37 7 104782625 104782625 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:104782625T>A ENST00000357311.3 - 10 1511 c.1340A>T c.(1339-1341)gAg>gTg p.E447V SRPK2_ENST00000393651.3_Missense_Mutation_p.E458V|SRPK2_ENST00000489828.1_Missense_Mutation_p.E447V NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 447 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GAACTGTGACTCGGGAATTTT 0.443000 41 71 0 0 0.009718 0 0 DAZL 1618 broad.mit.edu 37 3 16635178 16635178 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:16635178C>T ENST00000250863.8 - 9 1066 c.779G>A c.(778-780)gGa>gAa p.G260E DAZL_ENST00000399444.2_Missense_Mutation_p.G240E NM_001190811.1 NP_001177740.1 Q92904 DAZL_HUMAN deleted in azoospermia-like 240 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity RAF1/DAZL(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(3) 11 TGGGCCATTTCCAGAGGGTGG 0.343000 8 9 0 0 0.006214 0 0 ANK1 286 broad.mit.edu 37 8 41615578 41615578 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:41615578C>T ENST00000396942.1 - 2 188 c.105G>A c.(103-105)ggG>ggA p.G35G ANK1_ENST00000379758.2_Silent_p.G35G|ANK1_ENST00000396945.1_Silent_p.G35G|ANK1_ENST00000265709.8_Silent_p.G68G|ANK1_ENST00000289734.7_Silent_p.G35G|ANK1_ENST00000347528.4_Silent_p.G35G|ANK1_ENST00000352337.4_Silent_p.G35G P16157 ANK1_HUMAN ankyrin 1, erythrocytic 35 89 kDa 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) TAATATCTACCCCATTCCGCA 0.498000 88 389 0 0 0.014410 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773559 145773559 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:145773559G>A ENST00000276826.5 - 4 1112 c.911C>T c.(910-912)cCg>cTg p.P304L ARHGAP39_ENST00000377307.2_Missense_Mutation_p.P304L|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.P304L Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 304 Pro-rich. 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 GCCATAGCGCGGGGAGGAGGG 0.687000 24 35 0 0 0.005443 0 0 FBXO42 54455 broad.mit.edu 37 1 16577615 16577615 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:16577615G>A ENST00000375592.3 - 10 1920 c.1704C>T c.(1702-1704)tcC>tcT p.S568S NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 568 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) AGGGGCCTTTGGAGGACATCG 0.617000 24 41 0 0 0.016522 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229510 8229510 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:8229510G>A ENST00000539824.1 + 12 2235 c.1861G>A c.(1861-1863)Gac>Aac p.D621N SH3TC1_ENST00000245105.3_Missense_Mutation_p.D697N Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 697 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TTTGCACAGGGACTCGGGAGC 0.667000 13 34 0 0 0.003163 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033086 20033086 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:20033086G>A ENST00000377340.2 - 2 415 c.384C>T c.(382-384)tcC>tcT p.S128S CRNKL1_ENST00000536226.1_5'UTR|CRNKL1_ENST00000377327.4_Silent_p.S116S NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 128 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AAAACAAACAGGATCTCGGAA 0.582000 22 51 0 0 0.021523 0 0 POLH 5429 broad.mit.edu 37 6 43582080 43582080 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:43582080C>T ENST00000372236.4 + 11 2223 c.1928C>T c.(1927-1929)cCg>cTg p.P643L POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.P581L NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 643 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TCCCTGGTACCGGTATGGGAT 0.502000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 43 202 0 0 0.010771 0 0 SACS 26278 broad.mit.edu 37 13 23907979 23907979 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:23907979G>A ENST00000382298.3 - 10 10624 c.10036C>T c.(10036-10038)Cct>Tct p.P3346S SACS_ENST00000382292.3_Missense_Mutation_p.P3346S|SACS_ENST00000402364.1_Missense_Mutation_p.P2596S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3346 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) GACAACAAAGGAACAAATGCA 0.383000 4 22 0 0 0.014758 0 0 PRPF3 9129 broad.mit.edu 37 1 150305459 150305459 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:150305459C>T ENST00000324862.6 + 6 682 c.517C>T c.(517-519)Cct>Tct p.P173S PRPF3_ENST00000543398.1_Missense_Mutation_p.P38S|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.P124S NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 173 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) GCCAAAGACTCCTTCTTCCTC 0.443000 36 57 0 0 0.007835 0 0 GNAS 2778 broad.mit.edu 37 20 57415169 57415169 + Missense_Mutation SNP G G A rs139302910 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:57415169G>A ENST00000313949.7 + 1 397 c.8G>A c.(7-9)cGg>cAg p.R3Q GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R3Q|GNAS_ENST00000371075.3_Missense_Mutation_p.R3Q|GNAS-AS1_ENST00000424094.2_RNA P63092 GNAS2_HUMAN GNAS complex locus 0 C -> Y (in Ref. 8; AAH66923). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGGATGGATCGGAGGTCCCGG 0.657000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 18 63 0 0 0.008871 0 0 COL15A1 1306 broad.mit.edu 37 9 101806866 101806866 + Missense_Mutation SNP C C T rs140219439 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:101806866C>T ENST00000375001.3 + 25 3014 c.2591C>T c.(2590-2592)cCg>cTg p.P864L NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 864 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AAGGGAGAGCCGGGTGCCATC 0.522000 13 58 0 0 0.004007 0 0 FAM135B 51059 broad.mit.edu 37 8 139165019 139165019 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:139165019C>T ENST00000395297.1 - 13 1869 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 567 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) ACCAGGGGTTCAGCTCTGGAG 0.498000 HNSCC(54;0.14) 24 90 0 0 0.016522 0 0 C20orf194 25943 broad.mit.edu 37 20 3240173 3240173 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:3240173G>A ENST00000252032.9 - 33 3075 c.3008C>T c.(3007-3009)cCc>cTc p.P1003L C20orf194_ENST00000453730.2_3'UTR NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 1003 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TCCGGAGAAGGGACTTGGCTT 0.537000 20 74 0 0 0.007413 0 0 RAB27A 5873 broad.mit.edu 37 15 55497898 55497898 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:55497898G>A ENST00000396307.2 - 6 724 c.473C>T c.(472-474)cCc>cTc p.P158L RAB27A_ENST00000336787.1_Missense_Mutation_p.P158L|RAB27A_ENST00000569493.1_Missense_Mutation_p.P158L|RAB27A_ENST00000564609.1_Missense_Mutation_p.P158L NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 158 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity p.P158L(1) endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) TTCAAAGTAGGGGATTCTGGA 0.428000 16 52 0 0 0.003163 0 0 PELI1 57162 broad.mit.edu 37 2 64323416 64323416 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:64323416C>T ENST00000358912.4 - 6 975 c.533G>A c.(532-534)gGa>gAa p.G178E NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 178 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 ATCCATCTGTCCATCTGATGT 0.428000 9 45 0 0 0.008291 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31850259 31850259 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:31850259G>A ENST00000397525.1 - 10 1606 c.1383C>T c.(1381-1383)caC>caT p.H461H EIF4ENIF1_ENST00000382180.2_Silent_p.H140H|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Silent_p.H298H|EIF4ENIF1_ENST00000330125.5_Silent_p.H461H|EIF4ENIF1_ENST00000397523.1_Silent_p.H461H NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 461 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCTCTTCTAGGTGTTCTGCCA 0.483000 18 61 0 0 0.008871 0 0 FAM71B 153745 broad.mit.edu 37 5 156589960 156589960 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:156589960G>A ENST00000302938.4 - 2 1411 c.1316C>T c.(1315-1317)cCc>cTc p.P439L NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 439 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) TTTCCTACTGGGATGTCTGTC 0.517000 445 485 0 0 0.014410 0 0 DSP 1832 broad.mit.edu 37 6 7580938 7580938 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:7580938G>A ENST00000379802.3 + 23 4856 c.4515G>A c.(4513-4515)gcG>gcA p.A1505A DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1505 Central fibrous rod domain. A -> V. 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) ATGAAAACGCGAGATTACAAA 0.433000 34 52 0 0 0.017118 0 0 TTC17 55761 broad.mit.edu 37 11 43413392 43413392 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:43413392C>T ENST00000039989.4 + 5 567 c.553C>T c.(553-555)Ctt>Ttt p.L185F TTC17_ENST00000299240.6_Missense_Mutation_p.L185F|RP11-484D2.4_ENST00000394183.2_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 185 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GAGAGTTAATCTTTCTGCACC 0.353000 24 57 0 0 0.021523 0 0 ANKS1A 23294 broad.mit.edu 37 6 34937853 34937853 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:34937853C>T ENST00000360359.3 + 3 483 c.345C>T c.(343-345)taC>taT p.Y115Y ANKS1A_ENST00000535627.1_Silent_p.Y115Y NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 115 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 AAGGCTGCTACCCTCTGCATT 0.512000 28 41 0 0 0.007291 0 0 CDH18 1016 broad.mit.edu 37 5 19473355 19473355 + Missense_Mutation SNP C C T rs149640304 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:19473355C>T ENST00000507958.1 - 15 3343 c.2353G>A c.(2353-2355)Gaa>Aaa p.E785K CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.E785K|CDH18_ENST00000382275.1_Missense_Mutation_p.E785K Q13634 CAD18_HUMAN cadherin 18, type 2 785 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTTTCAGATTCTATTTCTCCA 0.438000 8 38 0 0 0.004482 0 0 FAM47A 158724 broad.mit.edu 37 X 34149812 34149812 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:34149812G>A ENST00000346193.3 - 1 635 c.584C>T c.(583-585)cCg>cTg p.P195L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 195 Pro-rich. p.P195L(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ATGGGACACCGGAGTCTCGGG 0.612000 23 21 0 0 0.016522 0 0 COMP 1311 broad.mit.edu 37 19 18895712 18895712 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:18895712T>C ENST00000542601.2 - 15 2198 c.1809A>G c.(1807-1809)caA>caG p.Q603Q COMP_ENST00000222271.2_Silent_p.Q636Q|COMP_ENST00000425807.1_Silent_p.Q583Q P49747 COMP_HUMAN cartilage oligomeric matrix protein 636 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GCACCTTGAGTTGGATGCCAG 0.617000 33 22 0 0 0.010818 0 0 UNC13B 10497 broad.mit.edu 37 9 35310610 35310610 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:35310610C>T ENST00000378495.3 + 9 1130 c.908C>T c.(907-909)tCc>tTc p.S303F UNC13B_ENST00000378496.4_Missense_Mutation_p.S303F|UNC13B_ENST00000396787.1_Missense_Mutation_p.S315F NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 303 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) CACAGCCTGTCCAGAGATGGC 0.507000 12 45 0 0 0.016723 0 0 ADORA3 140 broad.mit.edu 37 1 112043112 112043112 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:112043112G>A ENST00000241356.4 - 2 822 c.417C>T c.(415-417)ttC>ttT p.F139F ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor 139 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) ATCCCACCAGGAATGACACCA 0.498000 26 90 0 0 0.021523 0 0 COL5A1 1289 broad.mit.edu 37 9 137593132 137593132 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:137593132G>A ENST00000371817.3 + 4 1021 c.607G>A c.(607-609)Ggc>Agc p.G203S COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 203 Laminin G-like.|TSP N-terminal. 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) CGACATCAATGGCATCATCGT 0.552000 11 29 0 0 0.013537 0 0 CD300LB 124599 broad.mit.edu 37 17 72522111 72522111 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:72522111C>G ENST00000392621.1 - 2 261 c.257G>C c.(256-258)tGg>tCg p.W86S CD300LB_ENST00000314401.3_Missense_Mutation_p.W86S NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 49 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 CCCTCGGCACCACCACTTAAT 0.547000 4 222 0 0 0.014758 0 0 FAM73B 84895 broad.mit.edu 37 9 131830145 131830145 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:131830145C>T ENST00000358369.4 + 12 1490 c.1264C>T c.(1264-1266)Cga>Tga p.R422* FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR NM_032809.2 NP_116198.2 Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 422 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 GCTGGAGGGCCGAGGGGTGAG 0.632000 6 11 0 0 0.003080 0 0 EYA1 2138 broad.mit.edu 37 8 72123484 72123484 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:72123484T>A ENST00000340726.3 - 17 2244 c.1605A>T c.(1603-1605)gaA>gaT p.E535D EYA1_ENST00000388743.2_Missense_Mutation_p.E534D|EYA1_ENST00000388741.2_Missense_Mutation_p.E501D|EYA1_ENST00000388740.3_Missense_Mutation_p.E502D|EYA1_ENST00000419131.1_Missense_Mutation_p.E500D|EYA1_ENST00000303824.7_Missense_Mutation_p.E529D|EYA1_ENST00000388742.4_Missense_Mutation_p.E535D NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 535 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CAAAACAGCTTTCTTTTCCTA 0.333000 9 26 0 0 0.006214 0 0 PICK1 9463 broad.mit.edu 37 22 38461067 38461067 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:38461067C>T ENST00000404072.3 + 4 559 c.212C>T c.(211-213)aCc>aTc p.T71I PICK1_ENST00000356976.3_Missense_Mutation_p.T71I|PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 71 PDZ. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GATGAGATCACCGGTGTCAAT 0.557000 21 63 0 0 0.010504 0 0 ATP7B 540 broad.mit.edu 37 13 52518245 52518245 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:52518245C>T ENST00000242839.4 - 14 3399 c.3243_splice c.e14+1 p.E1081_splice ATP7B_ENST00000448424.2_Splice_Site_p.E1003_splice|ATP7B_ENST00000400370.3_Splice_Site_p.E651_splice|ATP7B_ENST00000418097.2_Splice_Site_p.E1016_splice|ATP7B_ENST00000344297.5_Splice_Site_p.E874_splice|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Splice_Site_p.E970_splice NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1081 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) GTCCACGTACCTCTTTACAGT 0.597000 Wilson disease 12 34 0 0 0.016723 0 0 TRRAP 8295 broad.mit.edu 37 7 98608812 98608812 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:98608812G>A ENST00000359863.4 + 70 11243 c.11034G>A c.(11032-11034)ctG>ctA p.L3678L TRRAP_ENST00000355540.3_Silent_p.L3649L|TRRAP_ENST00000446306.3_Silent_p.L3667L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3678 PI3K/PI4K. 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) AGCTGGCTCTGATAGGCTTCG 0.552000 31 113 0 0 0.010818 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600950 41600950 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:41600950C>T ENST00000330436.3 + 8 1248 c.1248C>T c.(1246-1248)ttC>ttT p.F416F NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 416 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CCCAGCACTTCCTGGATAAGA 0.567000 44 121 0 0 0.008740 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169687 57169687 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:57169687C>T ENST00000371244.4 + 7 898 c.832C>T c.(832-834)Cct>Tct p.P278S NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 278 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TTACTTATTTCCTGAAGACCC 0.353000 31 107 0 0 0.009535 0 0 FABP9 646480 broad.mit.edu 37 8 82371483 82371483 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:82371483C>T ENST00000379071.2 - 2 218 c.163G>A c.(163-165)Gaa>Aaa p.E55K RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 55 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) AAAGAACTTTCTGTTCTTATG 0.428000 15 29 0 0 0.004007 0 0 S100A7A 338324 broad.mit.edu 37 1 153390687 153390687 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:153390687C>T ENST00000368729.4 + 2 186 c.129C>T c.(127-129)ttC>ttT p.F43F S100A7A_ENST00000368728.2_Silent_p.F43F|S100A7A_ENST00000329256.2_Silent_p.F43F NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A 43 EF-hand 1. cytoplasm calcium ion binding cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 12 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCCCCAATTTCCTCAGTGCCT 0.493000 31 107 0 0 0.012213 0 0 TARS2 80222 broad.mit.edu 37 1 150463152 150463152 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:150463152C>T ENST00000369064.3 + 4 497 c.463C>T c.(463-465)Cca>Tca p.P155S TARS2_ENST00000369054.2_Missense_Mutation_p.P155S|TARS2_ENST00000438568.2_Intron|TARS2_ENST00000606933.1_Missense_Mutation_p.P155S NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 155 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) CTGCAGAGGTCCAAGTACAGA 0.493000 77 100 0 0 0.014410 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993849 140993849 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:140993849G>A ENST00000285879.4 + 4 945 c.659G>A c.(658-660)aGa>aAa p.R220K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 220 protein binding p.R220I(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) TCCCCTGAGAGAACTCAGAGT 0.493000 HNSCC(15;0.026) 44 77 0 0 0.009718 0 0 IGHG1 3500 broad.mit.edu 37 14 106208519 106208519 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:106208519G>A ENST00000390548.2 - 0 380 TGGGTTTTGGGGGGAAGAGGA 0.612000 21 70 0 0 0.021523 0 0 ZNF577 84765 broad.mit.edu 37 19 52376885 52376885 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:52376885G>A ENST00000301399.5 - 7 723 c.358C>T c.(358-360)Cat>Tat p.H120Y ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000485702.1_Intron NM_032679.2 NP_116068.2 Q9BSK1 ZN577_HUMAN zinc finger protein 577 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CGCTTGATATGGAGGCATGAT 0.373000 17 36 0 0 0.006122 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60448757 60448757 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:60448757G>A ENST00000296597.5 + 4 612 c.485G>A c.(484-486)cGa>cAa p.R162Q NDUFAF2_ENST00000511107.1_3'UTR|NDUFAF2_ENST00000512623.1_3'UTR NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 162 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGGATGCCACGAGATGGCAAG 0.408000 13 9 0 0 0.020292 0 0 TSTA3 7264 broad.mit.edu 37 8 144695729 144695729 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:144695729C>T ENST00000425753.2 - 9 878 c.775G>A c.(775-777)Gtg>Atg p.V259M TSTA3_ENST00000529064.1_Missense_Mutation_p.V259M NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 259 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) GCCTCCACCACCGCCTCGGCT 0.682000 7 24 0 0 0.003080 0 0 FBXW7 55294 broad.mit.edu 37 4 153247254 153247254 + Missense_Mutation SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:153247254A>C ENST00000281708.4 - 10 2777 c.1548T>G c.(1546-1548)agT>agG p.S516R FBXW7_ENST00000603841.1_Missense_Mutation_p.S516R|FBXW7_ENST00000603548.1_Missense_Mutation_p.S516R|FBXW7_ENST00000296555.5_Missense_Mutation_p.S398R|FBXW7_ENST00000263981.5_Missense_Mutation_p.S436R|FBXW7_ENST00000393956.3_Missense_Mutation_p.S340R NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 516 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CATATGCTCCACTAACAACCC 0.438000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 6 22 0 0 0.001168 0 0 NLRP9 338321 broad.mit.edu 37 19 56243946 56243946 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:56243946C>T ENST00000332836.2 - 2 1278 c.1251G>A c.(1249-1251)agG>agA p.R417R NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 417 NACHT. 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) ATAACCCATTCCTCCGGAGAT 0.493000 30 94 0 0 0.006320 0 0 KLHL13 90293 broad.mit.edu 37 X 117043518 117043518 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:117043518G>A ENST00000371876.1 - 4 3380 c.959C>T c.(958-960)tCg>tTg p.S320L KLHL13_ENST00000262820.3_Missense_Mutation_p.S371L|KLHL13_ENST00000539496.1_Missense_Mutation_p.S374L|KLHL13_ENST00000541812.1_Missense_Mutation_p.S355L|KLHL13_ENST00000371882.1_Missense_Mutation_p.S320L|KLHL13_ENST00000469946.1_Missense_Mutation_p.S320L|KLHL13_ENST00000545703.1_Missense_Mutation_p.S329L|KLHL13_ENST00000371878.1_Missense_Mutation_p.S320L|KLHL13_ENST00000540167.1_Missense_Mutation_p.S355L Q9P2N7 KLH13_HUMAN kelch-like family member 13 371 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.S371L(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GGGGGCTAACGATTTCCACTC 0.488000 13 68 0 0 0.013537 0 0 CBL 867 broad.mit.edu 37 11 119149242 119149242 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:119149242C>A ENST00000264033.4 + 9 1626 c.1250C>A c.(1249-1251)cCt>cAt p.P417H NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 417 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.P417R(2)|p.G397_I429del(1)|p.P417L(1)|p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CAGGGCTGTCCTTTCTGCCGA 0.428000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 22 54 7.16444e-05 7.40471e-05 0.021523 1 0 COL4A1 1282 broad.mit.edu 37 13 110855923 110855923 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:110855923G>A ENST00000375820.4 - 18 1110 c.989C>T c.(988-990)cCa>cTa p.P330L COL4A1_ENST00000543140.1_Missense_Mutation_p.P330L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 330 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AATTCCAGGTGGGCCAGGAGG 0.498000 35 100 0 0 0.008740 0 0 DNAH17 8632 broad.mit.edu 37 17 76425362 76425362 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:76425362C>T ENST00000389840.5 - 76 12351 c.12227G>A c.(12226-12228)cGc>cAc p.R4076H DNAH17_ENST00000585328.1_Missense_Mutation_p.R4077H|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAAAAGGTAGCGGAGATCGTC 0.592000 15 66 0 0 0.006122 0 0 CEP55 55165 broad.mit.edu 37 10 95276761 95276761 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:95276761T>C ENST00000371485.3 + 6 1053 c.749T>C c.(748-750)gTt>gCt p.V250A NM_001127182.1|NM_018131.4 NP_001120654.1|NP_060601.3 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 250 cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) GATCTTGAGGTTGAACGACAA 0.363000 11 31 0 0 0.008291 0 0 MUT 4594 broad.mit.edu 37 6 49403220 49403220 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:49403220G>A ENST00000274813.3 - 12 2200 c.2073C>T c.(2071-2073)tcC>tcT p.S691S NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 691 B12-binding. fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCCGTCCAAGGGAGTTAAGTT 0.468000 18 26 0 0 0.012319 0 0 FER1L6 654463 broad.mit.edu 37 8 125131862 125131862 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:125131862C>T ENST00000522917.1 + 41 5611 c.5405C>T c.(5404-5406)tCc>tTc p.S1802F FER1L6_ENST00000399018.1_Missense_Mutation_p.S1802F|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1802 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) CCAGACACCTCCTTTTCGTGG 0.468000 10 65 0 0 0.010729 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137088949 137088949 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:137088949C>T ENST00000314940.4 - 1 1090 c.807G>A c.(805-807)aaG>aaA p.K269K NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 269 Gly-rich. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) cgccgccgcTCTTCATGGGCC 0.677000 14 23 0 0 0.004990 0 0 OR8D2 283160 broad.mit.edu 37 11 124189829 124189829 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:124189829C>T ENST00000357438.2 - 1 355 c.265G>A c.(265-267)Gag>Aag p.E89K NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ATAATGTTCTCCTCTGGAACA 0.393000 4 2 0 0 0.014758 0 0 QSER1 79832 broad.mit.edu 37 11 32956278 32956278 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:32956278T>C ENST00000399302.2 + 4 3422 c.3087T>C c.(3085-3087)ggT>ggC p.G1029G QSER1_ENST00000527788.1_Silent_p.G790G NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1029 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) CCTTAGGGGGTGACGACAGTG 0.423000 6 9 0 0 0.001984 0 0 ZNF284 342909 broad.mit.edu 37 19 44590395 44590395 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:44590395G>A ENST00000421176.3 + 5 980 c.764G>A c.(763-765)gGa>gAa p.G255E ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) TTACACACAGGAGAAAAACCT 0.428000 15 56 0 0 0.020292 0 0 LMO7 4008 broad.mit.edu 37 13 76382275 76382275 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:76382275G>A ENST00000357063.3 + 11 3272 c.2012G>A c.(2011-2013)aGa>aAa p.R671K LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R671K|LMO7_ENST00000465261.2_Missense_Mutation_p.R386K|LMO7_ENST00000321797.8_Missense_Mutation_p.R386K Q8WWI1 LMO7_HUMAN LIM domain 7 671 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GACTTGAAGAGATGGGAGGCC 0.527000 12 11 0 0 0.020292 0 0 LPAR1 1902 broad.mit.edu 37 9 113704152 113704152 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:113704152C>T ENST00000374431.3 - 4 725 c.342G>A c.(340-342)cgG>cgA p.R114R LPAR1_ENST00000538760.1_Silent_p.R115R|LPAR1_ENST00000374430.2_Silent_p.R114R|LPAR1_ENST00000541779.1_Silent_p.R115R|LPAR1_ENST00000358883.4_Silent_p.R114R NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 114 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 CAGTCAGTCTCCGAGTATTGG 0.488000 22 83 0 0 0.004656 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79069870 79069870 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:79069870C>T ENST00000388820.4 - 9 1593 c.1383G>A c.(1381-1383)tcG>tcA p.S461S ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 461 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CAGGTGGCACCGAGGGGAAGT 0.642000 3 11 0 0 0.004672 0 0 ZNF438 220929 broad.mit.edu 37 10 31137870 31137870 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:31137870G>A ENST00000538351.1 - 7 2071 c.1317C>T c.(1315-1317)tcC>tcT p.S439S ZNF438_ENST00000452305.1_Silent_p.S478S|ZNF438_ENST00000444692.2_Silent_p.S478S|ZNF438_ENST00000413025.1_Silent_p.S488S|ZNF438_ENST00000361310.3_Silent_p.S488S|ZNF438_ENST00000442986.1_Silent_p.S488S|ZNF438_ENST00000331737.6_Silent_p.S478S|ZNF438_ENST00000375311.1_Silent_p.S52S|ZNF438_ENST00000436087.2_Silent_p.S488S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 488 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TGGGCTTAGGGGAAGAGCTGT 0.478000 44 100 0 0 0.009718 0 0 FCRL1 115350 broad.mit.edu 37 1 157771723 157771723 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:157771723C>T ENST00000358292.3 - 5 919 c.868G>A c.(868-870)Gtg>Atg p.V290M FCRL1_ENST00000368176.3_Missense_Mutation_p.V290M|FCRL1_ENST00000491942.1_Missense_Mutation_p.V290M|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 290 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTGAGTGTCACCGCCTCACTG 0.547000 35 46 0 0 0.021022 0 0 SERPINA3 12 broad.mit.edu 37 14 95081240 95081240 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:95081240G>A ENST00000553947.1 + 5 1425 c.537G>A c.(535-537)acG>acA p.T179T SERPINA3_ENST00000393080.4_Silent_p.T154T|SERPINA3_ENST00000467132.1_Silent_p.T154T|SERPINA3_ENST00000393078.3_Silent_p.T154T|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 154 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACAGGTTCACGGAGGATGCCA 0.527000 10 30 0 0 0.006214 0 0 CHD1L 9557 broad.mit.edu 37 1 146724344 146724344 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:146724344A>T ENST00000369258.4 + 2 214 c.194A>T c.(193-195)aAt>aTt p.N65I CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000431239.1_Missense_Mutation_p.N65I|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000467213.1_3'UTR NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 65 Helicase ATP-binding. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CATTGTCAGAATGGCTGTATC 0.512000 41 53 0 0 0.007835 0 0 GPR45 11250 broad.mit.edu 37 2 105859055 105859055 + Missense_Mutation SNP G G A rs143245552 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:105859055G>A ENST00000258456.1 + 1 856 c.740G>A c.(739-741)cGg>cAg p.R247Q NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 247 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GCGGGCCTGCGGCGCCTGCAG 0.642000 42 84 0 0 0.011902 0 0 OSBPL6 114880 broad.mit.edu 37 2 179238741 179238741 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179238741C>T ENST00000190611.4 + 15 1896 c.1520C>T c.(1519-1521)tCg>tTg p.S507L OSBPL6_ENST00000409631.1_Missense_Mutation_p.S471L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S476L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S532L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S471L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S440L|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S511L NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 507 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TCTGCAAGTTCGTCAGAGAAT 0.458000 23 77 0 0 0.004656 0 0 KALRN 8997 broad.mit.edu 37 3 124390539 124390539 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:124390539G>A ENST00000360013.3 + 48 6860 c.6733G>A c.(6733-6735)Gaa>Aaa p.E2245K KALRN_ENST00000428018.2_Missense_Mutation_p.E516K|KALRN_ENST00000459915.1_Missense_Mutation_p.E337K|KALRN_ENST00000291478.4_Missense_Mutation_p.E548K|KALRN_ENST00000393496.1_Missense_Mutation_p.E586K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2244 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCAACGGAAAGAAAGGAGCAC 0.552000 27 74 0 0 0.012213 0 0 HCN1 348980 broad.mit.edu 37 5 45645701 45645701 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:45645701C>T ENST00000303230.4 - 2 492 c.435G>A c.(433-435)tgG>tgA p.W145* NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 145 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.W145*(1) 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 TTATTAAATCCCAGTAAAACC 0.308000 6 9 0 0 0.001984 0 0 COL3A1 1281 broad.mit.edu 37 2 189854859 189854859 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:189854859G>A ENST00000304636.3 + 9 898 c.728G>A c.(727-729)gGa>gAa p.G243E COL3A1_ENST00000317840.5_Missense_Mutation_p.G243E NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 243 Triple-helical region. G -> V (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G243E(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGAGAGCGAGGATTGCCTGGA 0.368000 6 6 0 0 0.001984 0 0 FYTTD1 84248 broad.mit.edu 37 3 197505288 197505288 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:197505288C>T ENST00000428395.2 + 9 971 c.538C>T c.(538-540)Cct>Tct p.P180S FYTTD1_ENST00000241502.3_Missense_Mutation_p.P271S|FYTTD1_ENST00000415708.2_Missense_Mutation_p.P245S|FYTTD1_ENST00000424384.2_Missense_Mutation_p.P204S|FYTTD1_ENST00000492360.1_3'UTR NM_001011537.2 NP_001011537.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 271 mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) CAAGAAAGTTCCTAAAGGTGT 0.348000 8 30 0 0 0.004482 0 0 FAM134C 162427 broad.mit.edu 37 17 40734258 40734258 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:40734258G>A ENST00000309428.5 - 9 1033 c.974C>T c.(973-975)tCc>tTc p.S325F FAM134C_ENST00000585894.1_Missense_Mutation_p.S228F|FAM134C_ENST00000543197.1_Missense_Mutation_p.S130F NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 325 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) TCTGGCAAAGGATTCCTCTGG 0.537000 14 90 0 0 0.003163 0 0 CPM 1368 broad.mit.edu 37 12 69260720 69260720 + Missense_Mutation SNP T T G rs140807579 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:69260720T>G ENST00000551568.1 - 7 956 c.896A>C c.(895-897)aAt>aCt p.N299T CPM_ENST00000546373.1_Missense_Mutation_p.N299T|CPM_ENST00000338356.3_Missense_Mutation_p.N299T NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 299 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GGCTTTGTTATTATTCCAAAA 0.358000 19 27 0 0 0.008871 0 0 RBP3 5949 broad.mit.edu 37 10 48389030 48389030 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:48389030G>A ENST00000224600.4 - 1 1961 c.1848C>T c.(1846-1848)atC>atT p.I616I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 616 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CGGCCAGCACGATGGCATCGG 0.672000 13 43 0 0 0.020292 0 0 CBLB 868 broad.mit.edu 37 3 105378047 105378047 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:105378047G>A ENST00000264122.4 - 19 3037 c.2716C>T c.(2716-2718)Cct>Tct p.P906S CBLB_ENST00000407712.1_Missense_Mutation_p.P121S|CBLB_ENST00000394027.3_Missense_Mutation_p.P884S NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 906 Interaction with SH3KBP1.|Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CGTGGTTTAGGGGGTCTGGCT 0.433000 Mis S AML 5 25 0 0 0.001168 0 0 EPAS1 2034 broad.mit.edu 37 2 46588101 46588101 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:46588101C>T ENST00000263734.3 + 6 1161 c.651C>T c.(649-651)ccC>ccT p.P217P NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 217 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACAAGGAGCCCCTGCTGTCCT 0.567000 24 33 0 0 0.018920 0 0 TNN 63923 broad.mit.edu 37 1 175052945 175052945 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:175052945G>A ENST00000239462.4 + 5 1221 c.1108G>A c.(1108-1110)Gag>Aag p.E370K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 370 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTTGACGTGGAGTGGGAAAA 0.562000 37 38 0 0 0.021022 0 0 OR10H4 126541 broad.mit.edu 37 19 16059926 16059926 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:16059926C>T ENST00000322107.1 + 1 109 c.109C>T c.(109-111)Ctg>Ttg p.L37L NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CCTGATGTTCCTGTTCACATT 0.498000 81 84 0 0 0.014410 0 0 KRT77 374454 broad.mit.edu 37 12 53088463 53088463 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:53088463C>T ENST00000341809.3 - 5 1055 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Missense_Mutation_p.E110K NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 343 Coil 2.|Rod. 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 GCAATCAGTTCATACTGGGTC 0.567000 12 29 0 0 0.010729 0 0 NOS1 4842 broad.mit.edu 37 12 117768489 117768489 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:117768489G>A ENST00000317775.6 - 2 1071 c.386C>T c.(385-387)cCc>cTc p.P129L NOS1_ENST00000338101.4_Missense_Mutation_p.P129L|NOS1_ENST00000344089.3_Missense_Mutation_p.P129L NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 129 Interaction with NOSIP (By similarity). 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) GGCTTTGGTGGGGGGACCCAG 0.652000 25 57 0 0 0.018920 0 0 CTPS1 1503 broad.mit.edu 37 1 41467908 41467908 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:41467908C>A ENST00000372621.4 + 11 1679 c.1171C>A c.(1171-1173)Cag>Aag p.Q391K CTPS1_ENST00000372616.1_Missense_Mutation_p.Q391K|CTPS1_ENST00000541520.1_Missense_Mutation_p.Q160K NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 391 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) GGCTCGGAATCAGAAAAAGCC 0.478000 28 86 6.07407e-21 6.42468e-21 0.007291 1 0 SNRNP200 23020 broad.mit.edu 37 2 96955567 96955567 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:96955567G>A ENST00000323853.5 - 21 2987 c.2910C>T c.(2908-2910)gtC>gtT p.V970V SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 970 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 TGTCGTACTTGACCAGATTGT 0.512000 26 83 0 0 0.007291 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7671210 7671210 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:7671210G>A ENST00000446248.2 + 3 557 c.456G>A c.(454-456)tgG>tgA p.W152* CAMSAP3_ENST00000160298.4_Nonsense_Mutation_p.W152* NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 152 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CCTTCGAGTGGACAAAGACCC 0.627000 56 61 0 0 0.014410 0 0 HTRA1 5654 broad.mit.edu 37 10 124266380 124266380 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:124266380C>T ENST00000368984.3 + 4 1079 c.951C>T c.(949-951)atC>atT p.I317I NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 317 Serine protease. 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) TGGACTACATCCAGACCGACG 0.602000 16 33 0 0 0.007413 0 0 GP9 2815 broad.mit.edu 37 3 128780637 128780637 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:128780637G>A ENST00000307395.4 + 3 277 c.55G>A c.(55-57)Gac>Aac p.D19N NM_000174.3 NP_000165.1 P14770 GPIX_HUMAN glycoprotein IX (platelet) 19 LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding NS(1)|central_nervous_system(1)|lung(4) 6 Quinine(DB00468) GGCCACCAAGGACTGCCCCAG 0.711000 6 22 0 0 0.001984 0 0 GRIN2C 2905 broad.mit.edu 37 17 72846775 72846775 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:72846775G>A ENST00000293190.5 - 5 1391 c.1245C>T c.(1243-1245)atC>atT p.I415I GRIN2C_ENST00000347612.4_Silent_p.I415I NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 415 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GGCTCTCCACGATGACAAAGG 0.652000 13 88 0 0 0.016723 0 0 HCN1 348980 broad.mit.edu 37 5 45267329 45267329 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:45267329G>A ENST00000303230.4 - 7 1702 c.1645C>T c.(1645-1647)Cgt>Tgt p.R549C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 549 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 CTGGCAGTACGACGTCCTTTG 0.408000 16 54 0 0 0.006122 0 0 OR2A14 135941 broad.mit.edu 37 7 143827001 143827001 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:143827001C>T ENST00000408899.2 + 1 851 c.796C>T c.(796-798)Cct>Tct p.P266S NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GTCCCGCCATCCTGAGGAGCA 0.547000 37 157 0 0 0.010771 0 0 IPO11 51194 broad.mit.edu 37 5 61833062 61833062 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:61833062C>T ENST00000325324.6 + 24 2365 c.2196C>T c.(2194-2196)tcC>tcT p.S732S KIF2A_ENST00000509663.2_3'UTR|IPO11_ENST00000409296.3_Silent_p.S772S NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 732 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TATGCCAGTCCTTTTGTGAAC 0.284000 37 30 0 0 0.014410 0 0 C4orf17 84103 broad.mit.edu 37 4 100443719 100443719 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:100443719G>A ENST00000514652.1 + 3 544 c.190G>A c.(190-192)Gga>Aga p.G64R C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000326581.4_Missense_Mutation_p.G64R Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 64 G -> E (in dbSNP:rs13143848). central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AACATTGTGGGGAGTTGGCCA 0.428000 16 41 0 0 0.010504 0 0 SYN2 6854 broad.mit.edu 37 3 12224992 12224992 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:12224992G>A ENST00000432424.2 + 0 1661 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AAAAACAAACGAAAGGAAAGC 0.448000 20 62 0 0 0.007413 0 0 SEC63 11231 broad.mit.edu 37 6 108218933 108218933 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:108218933A>G ENST00000369002.4 - 14 1539 c.1360T>C c.(1360-1362)Tta>Cta p.L454L NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 454 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TCATCATCTAACACTGTTAAG 0.333000 42 58 0 0 0.009718 0 0 C14orf166B 145497 broad.mit.edu 37 14 77297635 77297635 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:77297635C>T ENST00000393774.3 + 3 431 c.307C>T c.(307-309)Cgg>Tgg p.R103W C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.R86W NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 103 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) CTACTTCATTCGGAACATGGA 0.537000 15 60 0 0 0.003163 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720218 140720218 + Silent SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140720218C>A ENST00000394576.2 + 1 1680 c.1680C>A c.(1678-1680)ccC>ccA p.P560P 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) ACAACGCGCCCGAGATCCTGT 0.627000 50 271 2.74695e-27 2.91005e-27 0.014410 1 0 ZNF426 79088 broad.mit.edu 37 19 9639071 9639071 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:9639071A>T ENST00000593003.1 - 6 2013 c.1536T>A c.(1534-1536)caT>caA p.H512Q ZNF426_ENST00000253115.2_Missense_Mutation_p.H550Q|ZNF426_ENST00000535489.1_Missense_Mutation_p.H550Q Q9BUY5 ZN426_HUMAN zinc finger protein 426 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 GAATTTGTTCATGTCTTCGAA 0.388000 30 25 0 0 0.013726 0 0 GBA3 57733 broad.mit.edu 37 4 22729088 22729088 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:22729088C>T ENST00000503442.1 + 0 149 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 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 TTAGGCCTTTCTTTGTAAGTG 0.493000 20 53 0 0 0.010504 0 0 MIR520A 574467 broad.mit.edu 37 19 54194139 54194139 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:54194139G>A ENST00000384862.1 + 0 5 NR_030189.1 GAAGATCTCAGGCTGTGACCC 0.433000 48 124 0 0 0.014410 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308247 140308247 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140308247T>C ENST00000253807.2 + 1 1770 c.1770T>C c.(1768-1770)agT>agC p.S590S PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.S590S|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCTGACAGTGGTTCTAATG 0.517000 75 73 0 0 0.014410 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760642 186760642 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:186760642C>T ENST00000169298.3 + 4 825 c.151C>T c.(151-153)Ctg>Ttg p.L51L ST6GAL1_ENST00000448044.1_Silent_p.L51L|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 51 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GTTAAAGAGTCTGGGGAAATT 0.507000 22 56 0 0 0.010504 0 0 MKI67 4288 broad.mit.edu 37 10 129903932 129903932 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:129903932C>T ENST00000368654.3 - 13 6547 c.6172G>A c.(6172-6174)Ggg>Agg p.G2058R MKI67_ENST00000368653.3_Missense_Mutation_p.G1698R NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2058 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.G2058W(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTCTCCATCCCAGTTCCATAG 0.517000 73 188 0 0 0.014410 0 0 FEN1 2237 broad.mit.edu 37 11 61563517 61563517 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:61563517C>T ENST00000305885.2 + 2 1097 c.684C>T c.(682-684)atC>atT p.I228I FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 228 I-domain. base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 ATCTGTGCATCCTGCTAGGCA 0.567000 Editing and processing nucleases 20 43 0 0 0.010504 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75551178 75551178 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:75551178C>T ENST00000604729.1 + 9 1537 c.1240C>T c.(1240-1242)Cat>Tat p.H414Y ZSWIM8_ENST00000398706.2_Missense_Mutation_p.H414Y|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.H414Y|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.H414Y|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.H414Y zinc finger, SWIM-type containing 8 GGTGGCAGCCCATGCCTGTGC 0.627000 18 34 0 0 0.004990 0 0 MYLK 4638 broad.mit.edu 37 3 123385168 123385168 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:123385168G>A ENST00000360772.3 - 23 4107 c.3729C>T c.(3727-3729)ttC>ttT p.F1243F MYLK_ENST00000360304.3_Silent_p.F1243F|MYLK_ENST00000346322.5_Silent_p.F1174F|MYLK_ENST00000354792.5_Silent_p.F43F|MYLK_ENST00000359169.1_Silent_p.F1243F|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000475616.1_Silent_p.F1243F Q15746 MYLK_HUMAN myosin light chain kinase 1243 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGTCCTCAGGGAACTGGATGA 0.557000 7 42 0 0 0.004482 0 0 OGFOD3 79701 broad.mit.edu 37 17 80361871 80361871 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:80361871A>G ENST00000313056.5 - 7 792 c.641T>C c.(640-642)aTa>aCa p.I214T OGFOD3_ENST00000329197.5_Missense_Mutation_p.I214T NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CGTGCTGTTTATGCGGGAGAA 0.637000 19 14 0 0 0.016522 0 0 DNAH7 56171 broad.mit.edu 37 2 196722274 196722274 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:196722274C>T ENST00000312428.6 - 44 8341 c.8241G>A c.(8239-8241)agG>agA p.R2747R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2747 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACTGCAGAAACCTCATGTCAC 0.383000 6 21 0 0 0.001168 0 0 IKZF4 64375 broad.mit.edu 37 12 56428585 56428585 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:56428585C>T ENST00000262032.5 + 12 1595 c.1228C>T c.(1228-1230)Cct>Tct p.P410S RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.P365S|IKZF4_ENST00000547167.1_Missense_Mutation_p.P410S|IKZF4_ENST00000431367.2_Missense_Mutation_p.P308S Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 410 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GCAGCCCCTCCCTGGTCGACT 0.637000 16 34 0 0 0.004007 0 0 SNTG2 54221 broad.mit.edu 37 2 1241662 1241662 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:1241662G>A ENST00000308624.5 + 10 851 c.722G>A c.(721-723)tGg>tAg p.W241* SNTG2_ENST00000407292.1_Nonsense_Mutation_p.W114* NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 241 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CTCCCCAGGTGGAATGCGTTC 0.672000 3 8 0 0 0.004672 0 0 C1orf168 199920 broad.mit.edu 37 1 57209936 57209936 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:57209936C>T ENST00000343433.6 - 10 1471 c.1391G>A c.(1390-1392)gGg>gAg p.G464E C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 464 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTCCAGATGCCCACCTGAAAG 0.448000 3 9 0 0 0.004672 0 0 DSPP 1834 broad.mit.edu 37 4 88534234 88534234 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:88534234C>T ENST00000399271.1 + 4 1016 c.896C>T c.(895-897)tCa>tTa p.S299L RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.S299L NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 299 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) GGTCAAAATTCAGATAGTAAA 0.428000 12 26 0 0 0.010729 0 0 AADAC 13 broad.mit.edu 37 3 151545698 151545698 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:151545698G>A ENST00000232892.6 + 5 1064 c.938G>A c.(937-939)gGg>gAg p.G313E RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase 313 positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AAATATCCAGGGTTCCTAGAT 0.418000 6 30 0 0 0.001168 0 0 ARAP2 116984 broad.mit.edu 37 4 36212084 36212084 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:36212084G>A ENST00000303965.4 - 6 1904 c.1415C>T c.(1414-1416)cCc>cTc p.P472L NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 472 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 GCAGGCATAGGGAGATATTGC 0.413000 7 20 0 0 0.001984 0 0 CCR1 1230 broad.mit.edu 37 3 46245004 46245004 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:46245004G>A ENST00000296140.3 - 2 926 c.801C>T c.(799-801)ttC>ttT p.F267F CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 267 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGGTGAACAGGAAGTCTTGGA 0.448000 7 24 0 0 0.004482 0 0 ZNF239 8187 broad.mit.edu 37 10 44052335 44052335 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:44052335G>A ENST00000306006.6 - 2 1845 c.1193C>T c.(1192-1194)aCt>aTt p.T398I ZNF239_ENST00000374446.2_Missense_Mutation_p.T398I|ZNF239_ENST00000535642.1_Missense_Mutation_p.T398I|ZNF239_ENST00000426961.1_Missense_Mutation_p.T398I NM_005674.2 NP_005665.2 Q16600 ZN239_HUMAN zinc finger protein 239 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 CTTCTCTCCAGTGTGGACTCT 0.522000 6 19 0 0 0.001984 0 0 PWP2 5822 broad.mit.edu 37 21 45535741 45535741 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:45535741G>A ENST00000291576.7 + 7 903 c.776G>A c.(775-777)gGa>gAa p.G259E NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 259 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ACCATCCGGGGAAAAGCCACT 0.632000 6 12 0 0 0.001168 0 0 POU5F1 5460 broad.mit.edu 37 6 31133727 31133727 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:31133727C>T ENST00000259915.8 - 2 575 c.503G>A c.(502-504)gGg>gAg p.G168E POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000606567.1_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000513407.1_5'UTR NM_002701.4 NP_002692.2 Q01860 PO5F1_HUMAN POU class 5 homeobox 1 168 POU-specific. anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance cytosol|nucleoplasm|transcription factor complex miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding EWSR1/POU5F1(10) breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 13 CAGGGTGAGCCCCACATCGGC 0.562000 T EWSR1 sarcoma 17 16 0 0 0.006122 0 0 SUGP1 57794 broad.mit.edu 37 19 19416756 19416756 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:19416756G>A ENST00000247001.5 - 4 787 c.440C>T c.(439-441)tCc>tTc p.S147F SUGP1_ENST00000585763.1_5'UTR|SUGP1_ENST00000334782.5_Missense_Mutation_p.S147F NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 147 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CTTGGCGTGGGAGTAGCTCTT 0.672000 31 17 0 0 0.012213 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59899378 59899378 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:59899378G>A ENST00000265036.5 - 9 1149 c.1082C>T c.(1081-1083)tCc>tTc p.S361F DEPDC1B_ENST00000453022.2_Missense_Mutation_p.S361F|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.S334F NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 361 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) GATGCAACGGGAAAATGTCTG 0.403000 10 32 0 0 0.013537 0 0 RTCA 8634 broad.mit.edu 37 1 100731969 100731969 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:100731969T>C ENST00000370128.4 + 1 207 c.38T>C c.(37-39)aTg>aCg p.M13T RTCA_ENST00000260563.4_Missense_Mutation_p.M13T|RTCA_ENST00000370126.1_Missense_Mutation_p.M13T|RTCA_ENST00000498617.1_3'UTR NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 13 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity GGCAGCATCATGGAAGGGGTG 0.652000 25 54 0 0 0.009535 0 0 SPTBN5 51332 broad.mit.edu 37 15 42147787 42147787 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:42147787G>A ENST00000320955.6 - 54 9405 c.9178C>T c.(9178-9180)Cag>Tag p.Q3060* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3060 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCTGCTGTCTGCTGCAGCCGC 0.632000 11 17 0 0 0.010729 0 0 GML 2765 broad.mit.edu 37 8 143928000 143928000 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:143928000C>A ENST00000220940.1 + 4 461 c.371C>A c.(370-372)cCc>cAc p.P124H NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 124 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GACATGTTACCCGATGAAGTA 0.418000 14 74 1.3612e-06 1.41657e-06 0.003163 1 0 SERPINC1 462 broad.mit.edu 37 1 173883747 173883747 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:173883747C>T ENST00000367698.3 - 2 470 c.352G>A c.(352-354)Gct>Act p.A118T SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 118 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) ATAGCAAAAGCCGTGGAGATA 0.507000 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 79 0 0 0.008361 0 0 NLRP8 126205 broad.mit.edu 37 19 56466958 56466958 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:56466958G>A ENST00000291971.3 + 3 1605 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K NLRP8_ENST00000590542.1_Missense_Mutation_p.E512K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 512 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) GACTTTTCAGGAATTTTTTGC 0.468000 44 132 0 0 0.014410 0 0 TMEM89 440955 broad.mit.edu 37 3 48659027 48659027 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:48659027G>A ENST00000330862.3 - 1 261 c.163C>T c.(163-165)Cct>Tct p.P55S NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 55 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CAGTAGCCAGGACAGCTCAGG 0.642000 10 37 0 0 0.010729 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152226710 152226710 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:152226710G>A ENST00000243347.3 + 4 646 c.571G>A c.(571-573)Gat>Aat p.D191N NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 191 CUB. 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) TTGCTTGGCTGATTATGTTGA 0.408000 20 84 0 0 0.018920 0 0 SLC22A10 387775 broad.mit.edu 37 11 63069867 63069867 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:63069867C>T ENST00000544661.1 + 8 1100 c.672C>T c.(670-672)ttC>ttT p.F224F SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000332793.6_Silent_p.F379F|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 379 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCAACATTTTCCTGTTGCAGG 0.408000 4 16 0 0 0.014758 0 0 NPAP1 23742 broad.mit.edu 37 15 24922344 24922344 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:24922344C>T ENST00000329468.2 + 1 1804 c.1330C>T c.(1330-1332)Ctt>Ttt p.L444F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TATCCCTCCACTTTCCACCAC 0.527000 34 71 0 0 0.015359 0 0 DNAH5 1767 broad.mit.edu 37 5 13777445 13777445 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:13777445G>A ENST00000265104.4 - 54 9075 c.8971C>T c.(8971-8973)Ctg>Ttg p.L2991L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2991 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) TCTTCCATCAGATTTGATGTG 0.333000 Kartagener syndrome 3 15 0 0 0.004672 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003386 75003386 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:75003386C>T ENST00000373359.2 - 1 1693 c.1501G>A c.(1501-1503)Gag>Aag p.E501K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 501 MAGE 2. 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 TCCACAGCCTCCCTATATTGT 0.488000 20 20 0 0 0.008871 0 0 ROBO1 6091 broad.mit.edu 37 3 78656102 78656102 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:78656102G>A ENST00000436010.2 - 27 5405 c.4408C>T c.(4408-4410)Cca>Tca p.P1470S ROBO1_ENST00000467549.1_Missense_Mutation_p.P1409S|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1509S|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1464S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1509 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGGAGTTTTGGCACCACTACA 0.473000 19 68 0 0 0.007413 0 0 P4HA1 5033 broad.mit.edu 37 10 74806745 74806745 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:74806745G>A ENST00000412021.2 - 9 1348 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C P4HA1_ENST00000440381.1_Missense_Mutation_p.R339C|P4HA1_ENST00000373008.2_Missense_Mutation_p.R339C|P4HA1_ENST00000263556.3_Missense_Mutation_p.R339C|P4HA1_ENST00000394890.2_Missense_Mutation_p.R339C|P4HA1_ENST00000307116.2_Missense_Mutation_p.R339C NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 339 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCATGGAAGCGAATAATACGA 0.373000 21 49 0 0 0.016522 0 0 THSD7B 80731 broad.mit.edu 37 2 137988722 137988722 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:137988722C>T ENST00000409968.1 + 8 2010 c.1832C>T c.(1831-1833)tCa>tTa p.S611L THSD7B_ENST00000272643.3_Missense_Mutation_p.S611L|THSD7B_ENST00000413152.2_Missense_Mutation_p.S580L|THSD7B_ENST00000543459.1_Intron 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) ACGGAGTGGTCATCCTGTTCC 0.517000 13 20 0 0 0.020292 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610372 47610372 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:47610372G>A ENST00000371891.3 + 8 1079 c.1048G>A c.(1048-1050)Gag>Aag p.E350K CYP4A22_ENST00000294337.3_Missense_Mutation_p.E350K|CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 350 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 GTGCCGGGAGGAGATCCATGG 0.612000 20 46 0 0 0.014323 0 0 PPBP 5473 broad.mit.edu 37 4 74853765 74853765 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:74853765G>A ENST00000296028.3 - 1 149 c.56C>T c.(55-57)gCc>gTc p.A19V NM_002704.3 NP_002695.1 P02775 CXCL7_HUMAN pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 19 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) CACCTGCAAGGCATGAAGTGG 0.517000 14 38 0 0 0.004007 0 0 GEN1 348654 broad.mit.edu 37 2 17950004 17950004 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:17950004G>A ENST00000381254.2 + 6 850 c.e6-1 SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Splice_Site NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTTCTGAAAGGGAGTCCCTG 0.343000 Homologous recombination 4 16 0 0 0.014758 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54669124 54669124 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:54669124C>T ENST00000355221.3 - 11 1773 c.1214G>A c.(1213-1215)cGa>cAa p.R405Q ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R383Q|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R423Q|ATP6V1H_ENST00000359530.2_Missense_Mutation_p.R423Q|ATP6V1H_ENST00000523899.1_Intron NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 423 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CCGTTTGCCTCGTGGATAATG 0.393000 11 19 0 0 0.010729 0 0 KCNT2 343450 broad.mit.edu 37 1 196300353 196300353 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:196300353C>T ENST00000367433.5 - 18 2137 c.2036G>A c.(2035-2037)gGa>gAa p.G679E KCNT2_ENST00000451324.2_Missense_Mutation_p.G290E|KCNT2_ENST00000294725.8_Missense_Mutation_p.G679E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629E Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 679 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GGGTGAACTTCCTATATATGG 0.323000 9 61 0 0 0.008291 0 0 KLRC2 3822 broad.mit.edu 37 12 10588420 10588420 + Missense_Mutation SNP C C T rs147031208 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:10588420C>T ENST00000381902.2 - 1 172 c.166G>A c.(166-168)Gat>Aat p.D56N KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.D56N|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D56N NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 56 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity p.D56H(1) kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TATATTTTATCAATCCCTTGA 0.343000 23 35 0 0 0.004656 0 0 CNTN4 152330 broad.mit.edu 37 3 3095505 3095505 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:3095505G>A ENST00000397461.1 + 23 3210 c.2826G>A c.(2824-2826)tgG>tgA p.W942* CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.W723*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.W942*|CNTN4_ENST00000448906.2_Nonsense_Mutation_p.W614*|CNTN4_ENST00000397459.2_Nonsense_Mutation_p.W614*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.W942* NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 942 Fibronectin type-III 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGTACAGATGGAACAGACAAA 0.403000 10 37 0 0 0.010729 0 0 IKZF4 64375 broad.mit.edu 37 12 56428444 56428444 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:56428444C>T ENST00000262032.5 + 12 1454 c.1087C>T c.(1087-1089)Cac>Tac p.H363Y RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.H318Y|IKZF4_ENST00000547167.1_Missense_Mutation_p.H363Y|IKZF4_ENST00000431367.2_Missense_Mutation_p.H261Y Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 363 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GGTGGCACACCACAGCCTAGA 0.562000 39 100 0 0 0.006230 0 0 TPO 7173 broad.mit.edu 37 2 1480864 1480864 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:1480864G>A ENST00000345913.4 + 8 917 c.826G>A c.(826-828)Gag>Aag p.E276K TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.E276K|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.E276K|TPO_ENST00000337415.3_Missense_Mutation_p.E276K|TPO_ENST00000329066.4_Missense_Mutation_p.E276K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 276 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) GCAGCTCCCGGAGGAGGCCCG 0.706000 6 25 0 0 0.001984 0 0 UNC13B 10497 broad.mit.edu 37 9 35376085 35376085 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:35376085C>T ENST00000378495.3 + 14 1651 c.1429C>T c.(1429-1431)Cct>Tct p.P477S UNC13B_ENST00000378496.4_Missense_Mutation_p.P477S|UNC13B_ENST00000396787.1_Missense_Mutation_p.P489S NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 477 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GTGCACCACTCCTCATAACTT 0.517000 45 90 0 0 0.014410 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237491 140237491 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140237491C>T ENST00000307360.5 + 1 1858 c.1858C>T c.(1858-1860)Ccg>Tcg p.P620S PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCACGCATCCCGTTTCGCGT 0.632000 10 49 0 0 0.010729 0 0 WDR62 284403 broad.mit.edu 37 19 36558741 36558741 + Silent SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:36558741A>T ENST00000401500.2 + 7 746 c.711A>T c.(709-711)acA>acT p.T237T WDR62_ENST00000270301.7_Silent_p.T237T|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000388999.3_Silent_p.T237T NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 237 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) TGACGAGCACAGTGCCCCTTG 0.592000 14 50 0 0 0.006122 0 0 CACNA1A 773 broad.mit.edu 37 19 13365963 13365963 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:13365963G>A ENST00000360228.5 - 29 4700 c.4701C>T c.(4699-4701)ttC>ttT p.F1567F CACNA1A_ENST00000573710.2_Silent_p.F1568F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1568 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCGTGTACTCGAAAGGCGGAG 0.572000 26 24 0 0 0.008361 0 0 TAT 6898 broad.mit.edu 37 16 71606462 71606462 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:71606462C>T ENST00000355962.4 - 5 671 c.538G>A c.(538-540)Gga>Aga p.G180R RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 180 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) ACCTCAATTCCCATAGACTCA 0.388000 13 44 0 0 0.004007 0 0 CSK 1445 broad.mit.edu 37 15 75094689 75094689 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:75094689C>T ENST00000220003.9 + 13 1917 c.1188C>T c.(1186-1188)gtC>gtT p.V396V CSK_ENST00000309470.9_Silent_p.V396V|CSK_ENST00000567571.1_Silent_p.V396V|CSK_ENST00000439220.2_Silent_p.V396V NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 396 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 AGGACGTCGTCCCTCGGGTGG 0.652000 20 52 0 0 0.014323 0 0 CYP2B6 1555 broad.mit.edu 37 19 41522721 41522721 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:41522721C>T ENST00000324071.4 + 9 1472 c.1465C>T c.(1465-1467)Ctg>Ttg p.L489L CYP2B6_ENST00000593831.1_Silent_p.L253L|CYP2B6_ENST00000330446.5_Silent_p.L289L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 489 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) GATCCGCTTCCTGCCCCGCTG 0.592000 10 21 0 0 0.010729 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58257932 58257932 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:58257932C>A ENST00000249750.4 - 8 1659 c.892G>T c.(892-894)Gat>Tat p.D298Y ALDH1A2_ENST00000537372.1_Missense_Mutation_p.D277Y|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.D260Y|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.D269Y|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.D202Y NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 298 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CAGTCAGCATCAGCAAAAATA 0.413000 8 33 5.18039e-06 5.37872e-06 0.003080 1 0 THRB 7068 broad.mit.edu 37 3 24169111 24169111 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:24169111C>T ENST00000396671.2 - 10 1371 c.1023G>A c.(1021-1023)ctG>ctA p.L341L THRB_ENST00000356447.4_Silent_p.L341L|THRB_ENST00000416420.1_Silent_p.L341L|THRB_ENST00000280696.5_Silent_p.L356L NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 341 Interaction with NR2F6.|Ligand-binding. L -> P (in GTHR). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) CCCCATTTTTCAGCTGGCCCC 0.537000 12 73 0 0 0.003163 0 0 RIPK3 11035 broad.mit.edu 37 14 24808773 24808773 + Silent SNP G G A rs140844433 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:24808773G>A ENST00000216274.5 - 2 269 c.51C>T c.(49-51)tcC>tcT p.S17S RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 17 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GTTCCTCGATGGACACCAAGG 0.677000 32 79 0 0 0.019004 0 0 PAX4 5078 broad.mit.edu 37 7 127253582 127253582 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:127253582G>A ENST00000341640.2 - 5 748 c.543C>T c.(541-543)ttC>ttT p.F181F PAX4_ENST00000338516.3_Silent_p.F189F|PAX4_ENST00000378740.2_Silent_p.F181F|PAX4_ENST00000463946.1_Silent_p.F179F NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 189 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCCCACGCTGGAACTCTGCGG 0.587000 25 46 0 0 0.018920 0 0 MOGS 7841 broad.mit.edu 37 2 74690339 74690339 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:74690339C>T ENST00000233616.4 - 3 916 c.754G>A c.(754-756)Gat>Aat p.D252N MOGS_ENST00000409065.1_Intron|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.D146N NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 252 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GGGGCTGTATCCCCTGGACTG 0.537000 37 112 0 0 0.006230 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922502 5922502 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:5922502G>T ENST00000399933.3 - 8 3493 c.3494C>A c.(3493-3495)cCa>cAa p.P1165Q KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1135Q NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1165 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGCTGTATTTGGTAGTTGGGT 0.353000 17 35 1.02788e-11 1.08215e-11 0.004990 1 0 UNC13A 23025 broad.mit.edu 37 19 17766795 17766795 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:17766795C>T ENST00000428389.2 - 11 1443 c.1444G>A c.(1444-1446)Gag>Aag p.E482K UNC13A_ENST00000550896.1_Missense_Mutation_p.E394K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E394K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E394K|UNC13A_ENST00000552293.1_Missense_Mutation_p.E394K|UNC13A_ENST00000252773.7_Missense_Mutation_p.E394K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 394 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 TCGGGGGCCTCGGTGGGTGCC 0.662000 12 7 0 0 0.010729 0 0 SCNN1B 6338 broad.mit.edu 37 16 23382719 23382719 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:23382719C>T ENST00000343070.2 + 6 1156 c.980C>T c.(979-981)cCc>cTc p.P327L SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300L|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327L|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372L NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 327 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) AGGTCATACCCCTTCATCAGA 0.602000 8 24 0 0 0.006214 0 0 FRMPD4 9758 broad.mit.edu 37 X 12712545 12712545 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:12712545C>T ENST00000380682.1 + 9 1411 c.905C>T c.(904-906)cCa>cTa p.P302L NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 302 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGGAGAGATCCAGTTGCTTTC 0.403000 12 18 0 0 0.016723 0 0 C2orf16 84226 broad.mit.edu 37 2 27803944 27803944 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:27803944A>G ENST00000408964.2 + 1 4556 c.4505A>G c.(4504-4506)aAc>aGc p.N1502S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1502 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) GAGTCTAAGAACTTGTCCACA 0.483000 25 62 0 0 0.005443 0 0 ABCA8 10351 broad.mit.edu 37 17 66873793 66873793 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:66873793C>T ENST00000269080.2 - 31 4083 c.3946G>A c.(3946-3948)Gat>Aat p.D1316N ABCA8_ENST00000430352.2_Missense_Mutation_p.D1356N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1356N NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1316 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCCAGGGCATCCCCTCCACCG 0.567000 61 80 0 0 0.014410 0 0 CXorf22 170063 broad.mit.edu 37 X 36007508 36007508 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:36007508G>A ENST00000297866.5 + 16 2852 c.2786G>A c.(2785-2787)gGa>gAa p.G929E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 929 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 CCAGAAGAAGGAGAATTTATT 0.383000 7 9 0 0 0.001984 0 0 PRSS3 5646 broad.mit.edu 37 9 33798555 33798555 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:33798555C>T ENST00000361005.5 + 4 697 c.697C>T c.(697-699)Cct>Tct p.P233S PRSS3_ENST00000429677.3_Missense_Mutation_p.P169S|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000379405.3_Missense_Mutation_p.P176S|PRSS3_ENST00000342836.4_Missense_Mutation_p.P190S|RP11-133O22.6_ENST00000454429.2_RNA NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 233 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) AGCCTCCTACCCTGGAAAGAT 0.542000 36 142 0 0 0.015359 0 0 OTUD4 54726 broad.mit.edu 37 4 146072028 146072028 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:146072028G>A ENST00000454497.2 - 12 940 c.803C>T c.(802-804)cCc>cTc p.P268L OTUD4_ENST00000447906.2_Missense_Mutation_p.P333L|OTUD4_ENST00000455611.2_5'UTR NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 332 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GCTTTCTGGGGGAGGTGCCTT 0.403000 12 20 0 0 0.020292 0 0 EFCAB7 84455 broad.mit.edu 37 1 63997598 63997598 + Missense_Mutation SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:63997598G>C ENST00000371088.4 + 3 541 c.295G>C c.(295-297)Gaa>Caa p.E99Q NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 99 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 TTTAAGGAAGGAAAAACCTAC 0.313000 7 18 0 0 0.003080 0 0 C5orf42 65250 broad.mit.edu 37 5 37107844 37107844 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:37107844G>A ENST00000274258.7 - 52 9735 c.6148C>T c.(6148-6150)Cct>Tct p.P2050S C5orf42_ENST00000508244.1_Missense_Mutation_p.P3152S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P3152S E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 3152 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACCCCAAAAGGATGCTCTGGC 0.483000 8 11 0 0 0.006214 0 0 HNF1A 6927 broad.mit.edu 37 12 121416806 121416806 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:121416806G>A ENST00000257555.6 + 1 461 c.235G>A c.(235-237)Gaa>Aaa p.E79K HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.E79K|HNF1A_ENST00000402929.1_Missense_Mutation_p.E79K|HNF1A_ENST00000541395.1_Missense_Mutation_p.E79K|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000400024.2_Missense_Mutation_p.E79K|HNF1A_ENST00000538626.1_Intron|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A-AS1_ENST00000433033.2_RNA P20823 HNF1A_HUMAN HNF1 homeobox A 79 Asp/Glu-rich (acidic; potential involvement with transcription). 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 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) CGACGATGGGGAAGACTTCAC 0.662000 Hepatic Adenoma, Familial Clustering of 71 195 0 0 0.014410 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097750 85097750 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:85097750G>A ENST00000335459.5 - 2 473 c.268C>T c.(268-270)Ctc>Ttc p.L90F TRABD2A_ENST00000409520.2_Missense_Mutation_p.L90F|TRABD2A_ENST00000409133.1_Missense_Mutation_p.L90F NM_001080824.1 NP_001074293.1 TraB domain containing 2A GGGTCTGTGAGATCCAACTCA 0.547000 10 13 0 0 0.006214 0 0 NUDCD3 23386 broad.mit.edu 37 7 44467277 44467277 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:44467277G>A ENST00000355451.6 - 3 814 c.535C>T c.(535-537)Ccc>Tcc p.P179S NUDCD3_ENST00000460110.1_5'UTR NM_015332.3 NP_056147.2 Q8IVD9 NUDC3_HUMAN NudC domain containing 3 179 endometrium(2)|large_intestine(1)|lung(3)|skin(1) 7 TAACTGTCGGGATTTTTCTGG 0.532000 10 37 0 0 0.008291 0 0 RBP3 5949 broad.mit.edu 37 10 48390152 48390152 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:48390152G>A ENST00000224600.4 - 1 839 c.726C>T c.(724-726)atC>atT p.I242I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 242 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGATGTGCGCGATGTCCTCGG 0.647000 12 29 0 0 0.016723 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188600 140188600 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140188600G>A ENST00000530339.1 + 1 1828 c.1828G>A c.(1828-1830)Gag>Aag p.E610K PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E610K|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E610K|PCDHA2_ENST00000526136.1_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTTTCGTACGAGCTGCAGCC 0.672000 65 64 0 0 0.014410 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184903 130184903 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:130184903C>T ENST00000422113.2 - 2 746 c.420G>A c.(418-420)ctG>ctA p.L140L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 140 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) TGGGCCGGCTCAGGTAGACTT 0.532000 9 32 0 0 0.006214 0 0 PITPNM1 9600 broad.mit.edu 37 11 67260440 67260440 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:67260440C>T ENST00000356404.3 - 23 3661 c.3436G>A c.(3436-3438)Ggc>Agc p.G1146S PITPNM1_ENST00000534749.1_Missense_Mutation_p.G1146S|PITPNM1_ENST00000436757.2_Missense_Mutation_p.G1145S NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 1146 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 ACGGCACGGCCCACGATGTAG 0.652000 41 95 0 0 0.008740 0 0 HNRNPF 3185 broad.mit.edu 37 10 43882742 43882742 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:43882742G>A ENST00000443950.2 - 3 1077 c.591C>T c.(589-591)ccC>ccT p.P197P HNRNPF_ENST00000356053.3_Silent_p.P197P|HNRNPF_ENST00000337970.3_Silent_p.P197P|HNRNPF_ENST00000357065.4_Silent_p.P197P|HNRNPF_ENST00000544000.1_Silent_p.P197P NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 197 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 ACTTCAGAGGGGGATCTGAGT 0.562000 26 73 0 0 0.004656 0 0 PDGFRB 5159 broad.mit.edu 37 5 149511573 149511573 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:149511573C>T ENST00000261799.4 - 8 1681 c.1212G>A c.(1210-1212)gaG>gaA p.E404E NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 404 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGAGCTGGACCTCAGCATCCT 0.612000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 20 103 0 0 0.008871 0 0 NRP1 8829 broad.mit.edu 37 10 33481215 33481215 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:33481215G>A ENST00000265371.4 - 14 2581 c.2056C>T c.(2056-2058)Cac>Tac p.H686Y NRP1_ENST00000374867.2_Missense_Mutation_p.H686Y|NRP1_ENST00000395995.1_Missense_Mutation_p.H686Y O14786 NRP1_HUMAN neuropilin 1 686 MAM. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) ATACCTGTGTGATCCTGAATG 0.502000 45 140 0 0 0.011902 0 0 PCLO 27445 broad.mit.edu 37 7 82785576 82785576 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:82785576C>T ENST00000423517.2 - 2 718 c.381G>A c.(379-381)ggG>ggA p.G127G PCLO_ENST00000333891.8_Silent_p.G127G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 127 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 AAGGACTCCTCCCAGGCAATT 0.478000 19 62 0 0 0.014323 0 0 QSER1 79832 broad.mit.edu 37 11 32955554 32955554 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:32955554C>T ENST00000399302.2 + 4 2698 c.2363C>T c.(2362-2364)cCt>cTt p.P788L QSER1_ENST00000527788.1_Missense_Mutation_p.P549L NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 788 Gln-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) CAACTCCATCCTCAAAATTCT 0.388000 9 22 0 0 0.006214 0 0 NMUR2 56923 broad.mit.edu 37 5 151784584 151784584 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:151784584C>T ENST00000255262.3 - 1 256 c.91G>A c.(91-93)Gag>Aag p.E31K NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 31 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) GCCAGATACTCCTCGGTGCTG 0.498000 40 115 0 0 0.006999 0 0 LPAR1 1902 broad.mit.edu 37 9 113704153 113704153 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:113704153C>T ENST00000374431.3 - 4 724 c.341G>A c.(340-342)cGg>cAg p.R114Q LPAR1_ENST00000538760.1_Missense_Mutation_p.R115Q|LPAR1_ENST00000374430.2_Missense_Mutation_p.R114Q|LPAR1_ENST00000541779.1_Missense_Mutation_p.R115Q|LPAR1_ENST00000358883.4_Missense_Mutation_p.R114Q NM_057159.2 NP_476500.1 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 114 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 AGTCAGTCTCCGAGTATTGGG 0.493000 22 84 0 0 0.021523 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95111410 95111410 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:95111410C>T ENST00000469935.1 + 0 1230 NR_015340.1 CTGAACATTTCTAAAGTAAGT 0.502000 7 26 0 0 0.001984 0 0 COL1A1 1277 broad.mit.edu 37 17 48266550 48266550 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:48266550G>A ENST00000225964.5 - 40 3034 c.2916C>T c.(2914-2916)ttC>ttT p.F972F NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 972 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GAAGACCAGGGAAGCCTCTCT 0.617000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 18 25 0 0 0.006122 0 0 SUSD4 55061 broad.mit.edu 37 1 223441998 223441998 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:223441998G>A ENST00000343846.3 - 3 1014 c.381C>T c.(379-381)atC>atT p.I127I SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Silent_p.I127I|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.I127I Q5VX71 SUSD4_HUMAN sushi domain containing 4 127 Sushi 2. 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) CAGCATCTTCGATTTGAGGGA 0.383000 26 86 0 0 0.008361 0 0 TFPI 7035 broad.mit.edu 37 2 188331670 188331670 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:188331670T>C ENST00000233156.3 - 8 1202 c.908A>G c.(907-909)aAt>aGt p.N303S AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.N303S NM_006287.4 NP_006278.1 P10646 TFPI1_HUMAN tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 303 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) AATTCACATATTTTTAACAAA 0.239000 3 10 0 0 0.004672 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79069868 79069868 + Missense_Mutation SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:79069868A>C ENST00000388820.4 - 9 1595 c.1385T>G c.(1384-1386)gTg>gGg p.V462G ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 462 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCCAGGTGGCACCGAGGGGAA 0.642000 4 11 0 0 0.009096 0 0 SMPD3 55512 broad.mit.edu 37 16 68404909 68404909 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:68404909G>A ENST00000219334.5 - 3 1779 c.1176C>T c.(1174-1176)taC>taT p.Y392Y SMPD3_ENST00000563226.1_Silent_p.Y392Y|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Silent_p.Y392Y NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 392 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCTGGCAGCCGTAGACCCCGA 0.577000 6 33 0 0 0.001984 0 0 TMEM108 66000 broad.mit.edu 37 3 133114707 133114707 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:133114707G>A ENST00000321871.6 + 6 1815 c.e6-1 TMEM108_ENST00000508711.1_Splice_Site|TMEM108_ENST00000393130.3_Splice_Site NM_001136469.1|NM_023943.2 NP_001129941.1|NP_076432.1 Q6UXF1 TM108_HUMAN transmembrane protein 108 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TCTCTTCCCAGGACCAGCTCT 0.498000 19 59 0 0 0.007413 0 0 GPR97 222487 broad.mit.edu 37 16 57718364 57718364 + Missense_Mutation SNP C C T rs111888711 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:57718364C>T ENST00000333493.4 + 10 1386 c.1225C>T c.(1225-1227)Cgt>Tgt p.R409C GPR97_ENST00000327655.6_Missense_Mutation_p.R199C|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R289C NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 409 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 CTACACCATCCGTGATAGGGA 0.632000 11 37 0 0 0.010729 0 0 IL37 27178 broad.mit.edu 37 2 113676137 113676137 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:113676137G>A ENST00000263326.3 + 5 450 c.e5-1 IL37_ENST00000349806.3_Splice_Site|IL37_ENST00000353225.3_Splice_Site|IL37_ENST00000311328.2_Splice_Site|IL37_ENST00000352179.3_Splice_Site NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TTACCTCACAGAAGGAGAAAC 0.512000 16 48 0 0 0.003163 0 0 COQ4 51117 broad.mit.edu 37 9 131088142 131088142 + Silent SNP C C T rs111535641 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:131088142C>T ENST00000300452.3 + 4 707 c.384C>T c.(382-384)ctC>ctT p.L128L COQ4_ENST00000372875.3_Silent_p.L128L NM_016035.3 NP_057119.2 Q9Y3A0 COQ4_HUMAN coenzyme Q4 128 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 GCGAGTATCTCCGTTTCCTGG 0.572000 9 33 0 0 0.006214 0 0 FCGBP 8857 broad.mit.edu 37 19 40419769 40419769 + Silent SNP G G A rs147457166 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:40419769G>A ENST00000221347.6 - 6 3232 c.3225C>T c.(3223-3225)ttC>ttT p.F1075F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1075 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCACTCCCGGAAGGGCCCCT 0.642000 26 90 0 0 0.008361 0 0 MKRN3 7681 broad.mit.edu 37 15 23811087 23811087 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:23811087G>A ENST00000314520.3 + 1 634 c.158G>A c.(157-159)aGg>aAg p.R53K MKRN3_ENST00000564592.1_Missense_Mutation_p.R53K|MKRN3_ENST00000568252.1_Missense_Mutation_p.R53K NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 53 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CATGCGGCAAGGGGCTGGGCC 0.692000 13 44 0 0 0.020292 0 0 CYP3A43 64816 broad.mit.edu 37 7 99447251 99447251 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:99447251C>T ENST00000354829.2 + 7 707 c.604C>T c.(604-606)Ccc>Tcc p.P202S CYP3A43_ENST00000222382.5_Missense_Mutation_p.P202S|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000342499.4_Missense_Mutation_p.S64F|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P202S|CYP3A43_ENST00000415413.1_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 202 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TCCACAAGATCCCTTTCTGAA 0.348000 22 44 0 0 0.010504 0 0 KCNH6 81033 broad.mit.edu 37 17 61623198 61623198 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:61623198C>T ENST00000583023.1 + 14 2931 c.2920C>T c.(2920-2922)Ccc>Tcc p.P974S KCNH6_ENST00000314672.5_Missense_Mutation_p.P938S|KCNH6_ENST00000581784.1_Missense_Mutation_p.P885S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P885S NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 974 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TGGCTCTGTTCCCAAGCAGCT 0.562000 25 129 0 0 0.006320 0 0 TRHDE 29953 broad.mit.edu 37 12 73050711 73050711 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:73050711G>A ENST00000261180.4 + 18 2950 c.2854G>A c.(2854-2856)Gga>Aga p.G952R NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 952 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 TTTGAGGTATGGAGAAGCATT 0.294000 9 25 0 0 0.016723 0 0 KIAA0922 23240 broad.mit.edu 37 4 154510071 154510071 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:154510071C>T ENST00000409959.3 + 16 1631 c.1582C>T c.(1582-1584)Ctg>Ttg p.L528L KIAA0922_ENST00000409663.3_Silent_p.L527L|KIAA0922_ENST00000440693.1_Silent_p.L528L NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 527 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GAGCCTTTCTCTGGATCAATC 0.343000 9 24 0 0 0.008291 0 0 CADPS2 93664 broad.mit.edu 37 7 121960381 121960381 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:121960381C>T ENST00000334010.7 - 28 4144 c.3723G>A c.(3721-3723)agG>agA p.R1241R CADPS2_ENST00000412584.2_Silent_p.R1202R|CADPS2_ENST00000313070.7_Silent_p.R1202R|CADPS2_ENST00000449022.2_Silent_p.R1243R NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1243 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 ATCGAAAGTCCCTGTAGGTTT 0.388000 38 128 0 0 0.013114 0 0 GRM4 2914 broad.mit.edu 37 6 34008042 34008042 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:34008042C>T ENST00000374181.3 - 7 1588 c.1419G>A c.(1417-1419)ggG>ggA p.G473G GRM4_ENST00000455714.2_Silent_p.G333G|GRM4_ENST00000535756.1_Silent_p.G340G|GRM4_ENST00000538487.1_Silent_p.G473G|GRM4_ENST00000545715.1_Silent_p.G165G|GRM4_ENST00000374177.3_Silent_p.G357G|GRM4_ENST00000544773.1_Silent_p.G304G NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 473 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) TGTCATAGCGCCCAGGCGCAT 0.572000 48 134 0 0 0.014410 0 0 CEP104 9731 broad.mit.edu 37 1 3742987 3742987 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:3742987C>T ENST00000378230.3 - 17 2526 c.2202G>A c.(2200-2202)ggG>ggA p.G734G NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 734 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 GGGCTGCTTTCCCTCCTTGAA 0.398000 17 45 0 0 0.006122 0 0 KCNAB2 8514 broad.mit.edu 37 1 6158556 6158556 + Silent SNP A A G rs148138812 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:6158556A>G ENST00000164247.1 + 16 1590 c.1026A>G c.(1024-1026)aaA>aaG p.K342K KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378092.1_Silent_p.K328K|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000458166.2_Silent_p.K275K|KCNAB2_ENST00000378083.3_Silent_p.K390K|KCNAB2_ENST00000378097.1_Silent_p.K342K|KCNAB2_ENST00000352527.1_Silent_p.K328K|KCNAB2_ENST00000341524.1_Silent_p.K342K|KCNAB2_ENST00000602612.1_3'UTR NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 342 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) TCCTTCCGAAACTGTCATCTT 0.537000 9 35 0 0 0.008291 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85517940 85517940 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:85517940G>A ENST00000393217.2 + 17 3711 c.3650G>A c.(3649-3651)cGa>cAa p.R1217Q NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1217 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GCACACGAACGAGGGGATGTA 0.388000 14 40 0 0 0.016723 0 0 HNRNPM 4670 broad.mit.edu 37 19 8536242 8536242 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:8536242C>T ENST00000348943.3 + 11 1043 c.811C>T c.(811-813)Cca>Tca p.P271S HNRNPM_ENST00000325495.4_Missense_Mutation_p.P310S NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 310 RRM 2. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 GGGGTTAGGACCAGGAGGGCA 0.478000 28 19 0 0 0.010818 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325035 150325035 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:150325035C>T ENST00000328902.5 - 3 867 c.651G>A c.(649-651)gaG>gaA p.E217E GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 217 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTCAACTTTCTCCATGAGCT 0.517000 96 173 0 0 0.014410 0 0 IMPG1 3617 broad.mit.edu 37 6 76751689 76751689 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:76751689G>A ENST00000369950.3 - 2 411 c.222C>T c.(220-222)ttC>ttT p.F74F IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 74 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCCCCGTTGGGAAAAATGCGG 0.368000 13 23 0 0 0.016723 0 0 TIMP4 7079 broad.mit.edu 37 3 12198884 12198884 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:12198884C>T ENST00000287814.4 - 2 748 c.e2+1 SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 CCCCCATGTACCTTTATCTGT 0.527000 11 206 0 0 0.010729 0 0 STEAP3 55240 broad.mit.edu 37 2 120005431 120005431 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:120005431C>T ENST00000354888.5 + 4 1173 c.669C>T c.(667-669)ttC>ttT p.F223F STEAP3_ENST00000450943.2_Silent_p.F223F|STEAP3_ENST00000393107.2_Silent_p.F223F|STEAP3_ENST00000425223.2_Silent_p.F223F|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.F223F|STEAP3_ENST00000393110.2_Silent_p.F233F|STEAP3_ENST00000393108.2_Silent_p.F223F|STEAP3_ENST00000393106.2_Silent_p.F223F NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 223 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 TGGGGCTCTTCGTCTGCTTCT 0.627000 14 47 0 0 0.003163 0 0 CDC20B 166979 broad.mit.edu 37 5 54416372 54416372 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:54416372C>T ENST00000296733.1 - 10 1396 c.1222G>A c.(1222-1224)Gat>Aat p.D408N CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Missense_Mutation_p.D408N NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 408 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GGACACCAATCCATGGCCTTT 0.488000 25 96 0 0 0.006320 0 0 TTC3 7267 broad.mit.edu 37 21 38569994 38569994 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:38569994A>G ENST00000399017.2 + 43 8450 c.5703A>G c.(5701-5703)aaA>aaG p.K1901K TTC3_ENST00000355666.1_Silent_p.K1901K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.K1901K NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1901 Poly-Lys. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AGAAAAAGAAAAAGGTATTTT 0.294000 5 10 0 0 0.014758 0 0 GPR98 84059 broad.mit.edu 37 5 90046372 90046372 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:90046372C>T ENST00000405460.2 + 53 11075 c.10979C>T c.(10978-10980)tCa>tTa p.S3660L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3660 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) TTTCAGAATTCATTATATAAG 0.358000 41 60 0 0 0.014410 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377550 125377550 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:125377550C>T ENST00000297913.2 + 1 603 c.534C>T c.(532-534)ttC>ttT p.F178F RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 CCCACTTCTTCTGTGACCTCT 0.493000 20 40 0 0 0.014323 0 0 GLTSCR1L 23506 broad.mit.edu 37 6 42832733 42832733 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:42832733C>T ENST00000314073.5 + 13 2965 c.2789C>T c.(2788-2790)gCc>gTc p.A930V GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A930V GLTSCR1-like CCTCTGAAGGCCAGTCAGTGC 0.547000 18 65 0 0 0.006122 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587399 15587399 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:15587399C>T ENST00000292609.4 - 2 211 c.82G>A c.(82-84)Gac>Aac p.D28N PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D28N Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 28 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 ATGACAGAGTCCATGAGCAGG 0.567000 7 14 0 0 0.003080 0 0 KIF15 56992 broad.mit.edu 37 3 44893415 44893415 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:44893415A>T ENST00000326047.4 + 33 4092 c.3943A>T c.(3943-3945)Atg>Ttg p.M1315L KIF15_ENST00000425755.1_Missense_Mutation_p.M950L NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 1315 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GCTGGAAGAAATGTATGAAGA 0.383000 10 37 0 0 0.008291 0 0 TTC31 64427 broad.mit.edu 37 2 74717474 74717474 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:74717474C>T ENST00000410003.1 + 4 345 c.336C>T c.(334-336)tcC>tcT p.S112S TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000233623.5_Silent_p.S112S|TTC31_ENST00000442235.2_5'UTR Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 112 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 TCCGCAAGTCCTTCCTGTATC 0.602000 16 47 0 0 0.004007 0 0 ZNF536 9745 broad.mit.edu 37 19 31040061 31040061 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:31040061G>A ENST00000355537.3 + 4 3682 c.3535G>A c.(3535-3537)Gat>Aat p.D1179N NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.D1179N(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GGAGAACAACGATGAAGAGGA 0.557000 18 50 0 0 0.008871 0 0 LAMB4 22798 broad.mit.edu 37 7 107674792 107674792 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:107674792C>T ENST00000388781.3 - 31 4763 c.e31-1 LAMB4_ENST00000205386.4_Splice_Site|LAMB4_ENST00000388780.3_Splice_Site|LAMB4_ENST00000483484.1_Splice_Site NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGCTGCTTTCCTAAGGTAAGA 0.328000 16 35 0 0 0.006122 0 0 REG1A 5967 broad.mit.edu 37 2 79349984 79349984 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:79349984G>A ENST00000233735.1 + 5 442 c.339G>A c.(337-339)tgG>tgA p.W113* NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 113 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCTGGCACTGGAGCAGTGGGT 0.557000 14 47 0 0 0.006122 0 0 CAD 790 broad.mit.edu 37 2 27465619 27465619 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:27465619C>T ENST00000264705.4 + 41 6516 c.6354C>T c.(6352-6354)ttC>ttT p.F2118F CAD_ENST00000403525.1_Silent_p.F2055F NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2118 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) TGCGGGCCTTCGTGGCCTCCC 0.657000 17 43 0 0 0.004990 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072668 17072668 + Missense_Mutation SNP G G A rs147789853 by1000genomes TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:17072668G>A ENST00000359963.3 - 1 1032 c.773C>T c.(772-774)aCg>aTg p.T258M NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 258 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AAGACGGGCCGTTGCTGGTGC 0.502000 23 78 0 0 0.014323 0 0 COL4A4 1286 broad.mit.edu 37 2 227892641 227892641 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:227892641C>T ENST00000396625.3 - 42 4265 c.4058G>A c.(4057-4059)aGa>aAa p.R1353K COL4A4_ENST00000329662.7_Missense_Mutation_p.R1353K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1353 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) GGGCCCTTTTCTCCCTGGAGG 0.458000 8 30 0 0 0.003080 0 0 TRANK1 9881 broad.mit.edu 37 3 36872408 36872408 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:36872408G>A ENST00000429976.2 - 21 8781 c.8534C>T c.(8533-8535)tCg>tTg p.S2845L TRANK1_ENST00000428977.2_Missense_Mutation_p.S2295L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S2295L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2845 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 CACCATATCCGAAACCCTCTT 0.597000 25 76 0 0 0.018920 0 0 RFPL3 10738 broad.mit.edu 37 22 32756602 32756602 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:32756602G>A ENST00000249007.4 + 2 942 c.737G>A c.(736-738)gGg>gAg p.G246E RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.G217E|RFPL3_ENST00000382088.3_Missense_Mutation_p.G217E|RFPL3S_ENST00000400234.1_3'UTR NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 246 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 CAGCGAGTGGGGATTTTTCTG 0.512000 17 61 0 0 0.006122 0 0 FILIP1 27145 broad.mit.edu 37 6 76022214 76022214 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:76022214G>A ENST00000393004.2 - 5 3555 c.3334C>T c.(3334-3336)Ccc>Tcc p.P1112S FILIP1_ENST00000237172.7_Missense_Mutation_p.P1112S|FILIP1_ENST00000370020.1_Missense_Mutation_p.P1013S|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1112 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGATTCCTGGGAGAGCGAAGG 0.547000 18 25 0 0 0.008871 0 0 CDH23 64072 broad.mit.edu 37 10 73377123 73377123 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:73377123C>T ENST00000224721.6 + 10 1127 c.1122C>T c.(1120-1122)ctC>ctT p.L374L CDH23_ENST00000398809.4_Silent_p.L369L|CDH23_ENST00000398842.3_Silent_p.L369L|CDH23_ENST00000461841.3_Silent_p.L414L|CDH23_ENST00000299366.7_Silent_p.L414L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 369 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCCTTCCACTCTTCATCCAGG 0.582000 15 35 0 0 0.003163 0 0 MYLK 4638 broad.mit.edu 37 3 123456314 123456314 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:123456314C>T ENST00000360772.3 - 9 1043 c.665G>A c.(664-666)gGa>gAa p.G222E MYLK_ENST00000360304.3_Missense_Mutation_p.G222E|MYLK_ENST00000346322.5_Missense_Mutation_p.G222E|MYLK_ENST00000359169.1_Missense_Mutation_p.G222E|MYLK_ENST00000475616.1_Missense_Mutation_p.G222E Q15746 MYLK_HUMAN myosin light chain kinase 222 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TTGGTTGACTCCATGGATTTC 0.547000 35 101 0 0 0.015359 0 0 CDHR1 92211 broad.mit.edu 37 10 85973996 85973996 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:85973996C>T ENST00000372117.3 + 17 2302 c.2199C>T c.(2197-2199)gtC>gtT p.V733V CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Silent_p.V437V NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 733 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CTAACAAGGTCCTGCCAATGC 0.642000 20 48 0 0 0.016522 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598398 151598398 + Nonsense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:151598398A>T ENST00000362032.4 + 3 172 c.67A>T c.(67-69)Aag>Tag p.K23* RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 23 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) TGCCCTGGAAAAGTACTACCT 0.413000 15 51 0 0 0.003163 0 0 SDR16C5 195814 broad.mit.edu 37 8 57224829 57224829 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:57224829C>T ENST00000522671.1 - 3 1083 c.352G>A c.(352-354)Gat>Aat p.D118N SDR16C5_ENST00000303749.3_Missense_Mutation_p.D118N|SDR16C5_ENST00000396721.2_Intron Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 118 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 ATGGAAACATCGCCGACTTCT 0.368000 21 34 0 0 0.014323 0 0 SORCS3 22986 broad.mit.edu 37 10 106974211 106974211 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:106974211T>C ENST00000369701.3 + 18 2614 c.2387T>C c.(2386-2388)aTt>aCt p.I796T SORCS3_ENST00000369699.4_Missense_Mutation_p.I82T NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 796 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) TATCGGCGGATTGTGTCCAAC 0.493000 19 51 0 0 0.012319 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170436 72170436 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:72170436C>T ENST00000537465.1 - 9 1272 c.1114G>A c.(1114-1116)Gat>Aat p.D372N PMFBP1_ENST00000355636.6_Missense_Mutation_p.D227N|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D372N Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 372 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) ATGTCCTTATCCTTCCTCTCA 0.552000 19 82 0 0 0.008871 0 0 SLC7A3 84889 broad.mit.edu 37 X 70146735 70146735 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:70146735G>A ENST00000374299.3 - 9 1587 c.1443C>T c.(1441-1443)tcC>tcT p.S481S SLC7A3_ENST00000298085.4_Silent_p.S481S Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 481 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) CAAGCAATGAGGAACAAACAT 0.473000 12 8 0 0 0.013537 0 0 CLINT1 9685 broad.mit.edu 37 5 157232931 157232931 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:157232931C>T ENST00000523094.1 - 7 1036 c.831G>A c.(829-831)ggG>ggA p.G277G CLINT1_ENST00000296951.5_Silent_p.G277G|CLINT1_ENST00000411809.2_Silent_p.G295G|CLINT1_ENST00000523908.1_Silent_p.G295G|CLINT1_ENST00000530742.1_Silent_p.G277G NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 295 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGCTTTGTCCCCTGTGTAAT 0.448000 18 52 0 0 0.012319 0 0 C3 718 broad.mit.edu 37 19 6707097 6707097 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:6707097G>A ENST00000245907.6 - 17 2327 c.2235C>T c.(2233-2235)ggC>ggT p.G745G NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 745 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) TCCTGGCCAGGCCCAGGTGGC 0.672000 27 11 0 0 0.007291 0 0 BAGE2 85319 broad.mit.edu 37 21 11039428 11039428 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:11039428C>T ENST00000470054.1 - 0 775 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) ATTCGGTATTCACTGTATGTT 0.294000 4 38 0 0 0.009096 0 0 TENM3 55714 broad.mit.edu 37 4 183651436 183651436 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:183651436C>T ENST00000511685.1 + 15 2792 c.2669C>T c.(2668-2670)cCa>cTa p.P890L TENM3_ENST00000406950.2_Missense_Mutation_p.P890L|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 p.P890Q(2) TTCCATTACCCAGAATATGGA 0.418000 21 56 0 0 0.012319 0 0 TAF5L 27097 broad.mit.edu 37 1 229730512 229730512 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:229730512G>A ENST00000258281.2 - 5 1467 c.1302C>T c.(1300-1302)ttC>ttT p.F434F TAF5L_ENST00000366676.1_Silent_p.F434F NM_014409.3 NP_055224.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 434 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) AATTAGGGTGGAATTTGACAC 0.592000 23 141 0 0 0.021523 0 0 DYRK4 8798 broad.mit.edu 37 12 4708873 4708873 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:4708873G>A ENST00000540757.2 + 8 860 c.699_splice c.e8-1 p.E234_splice DYRK4_ENST00000010132.5_Splice_Site_p.E234_splice|DYRK4_ENST00000543431.1_Splice_Site_p.E234_splice NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 234 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) TTCTCTCTAGGAAAATATAGT 0.448000 16 55 0 0 0.004990 0 0 TDRD6 221400 broad.mit.edu 37 6 46659159 46659159 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:46659159T>C ENST00000544460.1 + 1 3548 c.3294T>C c.(3292-3294)tgT>tgC p.C1098C TDRD6_ENST00000316081.6_Silent_p.C1098C NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1098 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) CTGTCAGATGTTCATTATCTG 0.363000 28 116 0 0 0.007291 0 0 OR52N2 390077 broad.mit.edu 37 11 5842474 5842474 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:5842474G>A ENST00000317037.2 + 1 931 c.909G>A c.(907-909)caG>caA p.Q303Q TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCAGATTCAGGAAGGTGTAA 0.373000 10 40 0 0 0.006214 0 0 HYDIN 54768 broad.mit.edu 37 16 71220731 71220731 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:71220731C>T ENST00000393567.2 - 2 218 c.68G>A c.(67-69)gGa>gAa p.G23E HYDIN_ENST00000448089.2_Missense_Mutation_p.G23E|HYDIN_ENST00000541601.1_Missense_Mutation_p.G40E|HYDIN_ENST00000538248.1_Missense_Mutation_p.G50E|HYDIN_ENST00000393550.2_Missense_Mutation_p.G23E|HYDIN_ENST00000288168.10_Missense_Mutation_p.G40E|HYDIN_ENST00000321489.5_Missense_Mutation_p.G23E|HYDIN_ENST00000448691.1_Missense_Mutation_p.G23E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 23 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) GCTTTGAAATCCTTTGAACAT 0.383000 7 23 0 0 0.001984 0 0 MEGF9 1955 broad.mit.edu 37 9 123367702 123367702 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:123367702C>T ENST00000373930.3 - 6 1686 c.1575G>A c.(1573-1575)gtG>gtA p.V525V MEGF9_ENST00000426959.1_Silent_p.V562V NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 525 integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 TTAGCAGCACCACAACAATGA 0.428000 22 59 0 0 0.014323 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAAC 0.403000 5 142 0 0 0.014758 0 0 TMEM209 84928 broad.mit.edu 37 7 129832632 129832632 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:129832632G>A ENST00000397622.2 - 6 727 c.605C>T c.(604-606)cCg>cTg p.P202L TMEM209_ENST00000336804.8_Missense_Mutation_p.P201L|TMEM209_ENST00000462753.1_Missense_Mutation_p.P201L|TMEM209_ENST00000473456.1_Missense_Mutation_p.P202L|RP11-775D22.3_ENST00000483283.1_RNA NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 202 Ser-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) GGTAGGGTACGGAGAAGGAGG 0.408000 7 54 0 0 0.003080 0 0 NEBL 10529 broad.mit.edu 37 10 21120162 21120162 + Missense_Mutation SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:21120162A>C ENST00000377122.4 - 16 2030 c.1634T>G c.(1633-1635)aTc>aGc p.I545S NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 545 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGCTCGAAGGATATCTGGGAT 0.378000 14 31 0 0 0.003163 0 0 SCN1A 6323 broad.mit.edu 37 2 166870329 166870329 + Silent SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:166870329C>A ENST00000423058.2 - 18 3647 c.3630G>T c.(3628-3630)acG>acT p.T1210T SCN1A_ENST00000409050.1_Silent_p.T1182T|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T1210T|SCN1A_ENST00000375405.3_Silent_p.T1199T NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1210 T -> K (in SMEI; dbSNP:rs121918738). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTCGGAAACACGTCCTTCTCA 0.398000 4 20 0.00909568 0.00937214 0.009096 1 0 COL4A4 1286 broad.mit.edu 37 2 227872752 227872752 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:227872752G>A ENST00000396625.3 - 47 4998 c.4791C>T c.(4789-4791)atC>atT p.I1597I COL4A4_ENST00000329662.7_Silent_p.I1594I NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1597 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATGAATACCCGATCCAGAGGC 0.612000 11 17 0 0 0.016723 0 0 ATP7A 538 broad.mit.edu 37 X 77301936 77301936 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:77301936A>G ENST00000341514.6 + 23 4527 c.4372A>G c.(4372-4374)Aat>Gat p.N1458D ATP7A_ENST00000343533.5_Missense_Mutation_p.N1380D|ATP7A_ENST00000350425.4_Missense_Mutation_p.N461D NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1458 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CCGGATTGTTAATTATAGCAG 0.443000 75 51 0 0 0.014410 0 0 CD36 948 broad.mit.edu 37 7 80285980 80285980 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:80285980A>G ENST00000435819.1 + 7 929 c.245A>G c.(244-246)aAc>aGc p.N82S CD36_ENST00000538969.1_Missense_Mutation_p.N82S|CD36_ENST00000432207.1_Missense_Mutation_p.N82S|CD36_ENST00000534394.1_Missense_Mutation_p.N6S|CD36_ENST00000309881.7_Missense_Mutation_p.N82S|CD36_ENST00000433696.2_Missense_Mutation_p.N82S|CD36_ENST00000394788.3_Missense_Mutation_p.N82S|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000447544.2_Missense_Mutation_p.N82S|CD36_ENST00000544133.1_Missense_Mutation_p.N82S P16671 CD36_HUMAN CD36 molecule (thrombospondin receptor) 82 cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 AACAGCAGCAACATTCAAGTT 0.388000 7 17 0 0 0.001984 0 0 ATP12A 479 broad.mit.edu 37 13 25262581 25262581 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:25262581T>C ENST00000218548.6 + 4 686 c.353T>C c.(352-354)cTc>cCc p.L118P ATP12A_ENST00000381946.3_Missense_Mutation_p.L118P NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 118 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TTCTCTATCCTCCTGTGGGTG 0.592000 16 370 0 0 0.008871 0 0 FH 2271 broad.mit.edu 37 1 241661172 241661172 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:241661172A>G ENST00000366560.3 - 10 1527 c.1489T>C c.(1489-1491)Ttt>Ctt p.F497L NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 497 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) CATTCGTCAAACTGCTCTGCT 0.363000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 3 21 0 0 0.004672 0 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 3 8 0 0 0.014758 0 0 PTPRB 5787 broad.mit.edu 37 12 70928675 70928675 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:70928675G>A ENST00000334414.6 - 30 6186 c.6142C>T c.(6142-6144)Ctg>Ttg p.L2048L RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000538708.1_Silent_p.L1740L|PTPRB_ENST00000550857.1_Silent_p.L1740L|PTPRB_ENST00000550358.1_Silent_p.L1960L|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000451516.2_Silent_p.L1740L|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Silent_p.L1830L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1830 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L1830M(2)|p.L2048M(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCATCTGCAGGATGAGGTCC 0.502000 11 30 0 0 0.010729 0 0 MISP 126353 broad.mit.edu 37 19 758060 758060 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:758060G>A ENST00000215582.6 + 2 1217 c.1114G>A c.(1114-1116)Gtg>Atg p.V372M NM_173481.2 NP_775752.1 mitotic spindle positioning GGGCCTGCACGTGGGCCGGGC 0.701000 8 8 0 0 0.006214 0 0 OR5H1 26341 broad.mit.edu 37 3 97852022 97852022 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:97852022G>A ENST00000354565.2 + 1 481 c.481G>A c.(481-483)Gga>Aga p.G161R RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 AATCCATGAAGGATTTTTATT 0.358000 3 21 0 0 0.004672 0 0 XIST 7503 broad.mit.edu 37 X 73050952 73050952 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:73050952G>A ENST00000429829.1 - 0 11730 NR_001564.2 CTGGGACCAGGAAAGTATCTT 0.463000 7 9 0 0 0.004482 0 0 NOTCH1 4851 broad.mit.edu 37 9 139410075 139410075 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:139410075G>A ENST00000277541.6 - 11 1838 c.1763C>T c.(1762-1764)aCc>aTc p.T588I NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 588 EGF-like 15; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGAGGCAGGTGAAGGTGGC 0.692000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 5 12 0 0 0.014758 0 0 DCAKD 79877 broad.mit.edu 37 17 43111675 43111675 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:43111675G>A ENST00000452796.2 - 2 451 c.196C>T c.(196-198)Cgc>Tgc p.R66C DCAKD_ENST00000588499.1_Missense_Mutation_p.R66C|DCAKD_ENST00000310604.4_Missense_Mutation_p.R66C|DCAKD_ENST00000342350.5_Missense_Mutation_p.R66C|DCAKD_ENST00000588295.1_5'UTR Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 66 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) AGGACCTTGCGATTTATGTCG 0.597000 14 68 0 0 0.020292 0 0 OR5W2 390148 broad.mit.edu 37 11 55681905 55681905 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:55681905C>T ENST00000344514.1 - 1 153 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D52Y(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGTTGGTAATCCATTCTGATT 0.383000 9 32 0 0 0.004482 0 0 CREB3L2 64764 broad.mit.edu 37 7 137593039 137593039 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:137593039G>A ENST00000330387.6 - 5 1078 c.727C>T c.(727-729)Ccc>Tcc p.P243S CREB3L2_ENST00000456390.1_Missense_Mutation_p.P243S NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 243 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 AGGGCGGAGGGGGCCCGGGGT 0.652000 T FUS fibromyxoid sarcoma 3 3 0 0 0.009096 0 0 MOXD1 26002 broad.mit.edu 37 6 132641827 132641827 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:132641827C>T ENST00000367963.3 - 9 1424 c.1305_splice c.e9-1 p.G436_splice MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Splice_Site_p.G368_splice NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 436 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) AGGTTATCTCCCTGAAACATA 0.318000 6 8 0 0 0.001168 0 0 GSG1 83445 broad.mit.edu 37 12 13238026 13238026 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:13238026G>A ENST00000337630.6 - 6 857 c.790C>T c.(790-792)Cgg>Tgg p.R264W GSG1_ENST00000537302.1_Missense_Mutation_p.R236W|GSG1_ENST00000457134.2_Missense_Mutation_p.R213W|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000351606.6_3'UTR|GSG1_ENST00000396310.2_Missense_Mutation_p.R233W|GSG1_ENST00000432710.2_Missense_Mutation_p.R277W|GSG1_ENST00000324458.8_Missense_Mutation_p.R300W NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 287 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GACAGCCGCCGAGGGAAACAC 0.532000 7 15 0 0 0.003080 0 0 KLHL1 57626 broad.mit.edu 37 13 70293603 70293603 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:70293603C>T ENST00000377844.4 - 9 2672 c.1913G>A c.(1912-1914)gGg>gAg p.G638E KLHL1_ENST00000545028.1_Missense_Mutation_p.G445E NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 638 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) TCCGACACCCCCTCTCCTCTT 0.458000 5 13 0 0 0.001168 0 0 EXD2 55218 broad.mit.edu 37 14 69701576 69701576 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:69701576C>T ENST00000409014.1 + 7 1159 c.502C>T c.(502-504)Cga>Tga p.R168* EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000409949.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000409675.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000409242.1_Nonsense_Mutation_p.R168*|EXD2_ENST00000409018.3_Nonsense_Mutation_p.R293*|EXD2_ENST00000312994.5_Nonsense_Mutation_p.R293* NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 168 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CATCCCATTTCGAAGCAAAGG 0.443000 16 42 0 0 0.006122 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101941 46101941 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:46101941G>A ENST00000391617.1 - 1 137 c.98C>T c.(97-99)tCc>tTc p.S33F TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 33 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 CACGCACACGGAGGACTGGCA 0.677000 16 42 0 0 0.004007 0 0 PPIF 10105 broad.mit.edu 37 10 81111303 81111303 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:81111303C>T ENST00000225174.3 + 4 447 c.376C>T c.(376-378)Cct>Tct p.P126S PPIF_ENST00000394579.3_Missense_Mutation_p.P126S NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 126 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) AAGCCGCTTTCCTGACGAGAA 0.607000 13 43 0 0 0.016723 0 0 DSCR4 10281 broad.mit.edu 37 21 39427068 39427068 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:39427068C>T ENST00000328264.3 - 3 342 c.238G>A c.(238-240)Gag>Aag p.E80K DSCR4_ENST00000398948.1_Intron NM_005867.2 NP_005858.1 P56555 DSCR4_HUMAN Down syndrome critical region gene 4 80 p.E80*(1) large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 TGCTGCCCCTCTCTGGTTCTG 0.428000 20 48 0 0 0.012319 0 0 DOCK3 1795 broad.mit.edu 37 3 51399296 51399296 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:51399296G>A ENST00000266037.9 + 48 5036 c.5013G>A c.(5011-5013)atG>atA p.M1671I NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1671 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ACAGCCCCATGAACTTGATGG 0.562000 7 10 0 0 0.004482 0 0 XIRP2 129446 broad.mit.edu 37 2 168099883 168099883 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:168099883A>T ENST00000409195.1 + 9 2070 c.1981A>T c.(1981-1983)Agg>Tgg p.R661W XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R439W|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R661W NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 486 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 GTTTGAAACAAGGCCATTGGA 0.438000 12 26 0 0 0.010729 0 0 PYDC2 152138 broad.mit.edu 37 3 191179158 191179158 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:191179158G>A ENST00000518817.1 + 1 207 c.207G>A c.(205-207)ggG>ggA p.G69G NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 69 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 ACTGGGCAGGGATGGCAGCCA 0.527000 22 66 0 0 0.006320 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570715 20570715 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:20570715C>T ENST00000329697.6 - 3 400 c.232G>A c.(232-234)Gaa>Aaa p.E78K ACSM2B_ENST00000414188.2_Missense_Mutation_p.E78K|ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E78K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E78K NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 78 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 CACATTAATTCCTTCCCCTTC 0.557000 7 24 0 0 0.001984 0 0 ACVR1C 130399 broad.mit.edu 37 2 158412607 158412607 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:158412607G>A ENST00000243349.7 - 3 902 c.542C>T c.(541-543)tCt>tTt p.S181F ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.S131F NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 181 GS. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 TAACATACCAGAGCCAGATCC 0.338000 5 21 0 0 0.001168 0 0 C11orf80 79703 broad.mit.edu 37 11 66563829 66563829 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:66563829C>T ENST00000360962.4 + 6 718 c.711C>T c.(709-711)caC>caT p.H237H C11orf80_ENST00000346672.4_Silent_p.H82H|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000540737.1_Silent_p.H71H|C11orf80_ENST00000527634.1_Silent_p.H18H|C11orf80_ENST00000525449.2_Silent_p.H82H|C11orf80_ENST00000532565.2_Silent_p.H18H NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 82 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 TCATGGTGCACCCTAAGGTAA 0.358000 4 19 0 0 0.001168 0 0 EFCAB3 146779 broad.mit.edu 37 17 60484436 60484436 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:60484436C>T ENST00000450662.2 + 10 957 c.886C>T c.(886-888)Cca>Tca p.P296S EFCAB3_ENST00000305286.3_Missense_Mutation_p.P244S NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 244 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) ACCCATCTTTCCATTGTTCCC 0.368000 38 33 0 0 0.010771 0 0 CD163 9332 broad.mit.edu 37 12 7633849 7633849 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:7633849G>A ENST00000359156.4 - 15 3453 c.3251C>T c.(3250-3252)tCc>tTc p.S1084F CD163_ENST00000541972.1_Missense_Mutation_p.S1072F|CD163_ENST00000396620.3_Missense_Mutation_p.S1117F|CD163_ENST00000432237.2_Missense_Mutation_p.S1084F NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1084 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCCTCTTGAGGAAACTGAAAA 0.428000 20 44 0 0 0.014323 0 0 PVRL3 25945 broad.mit.edu 37 3 110837599 110837599 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:110837599C>T ENST00000485303.1 + 3 874 c.599C>T c.(598-600)cCc>cTc p.P200L PVRL3_ENST00000493615.1_Missense_Mutation_p.P177L|PVRL3_ENST00000319792.3_Missense_Mutation_p.P200L NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 200 Ig-like C2-type 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 ACTGGAAAACCCGTTGCACAT 0.438000 8 29 0 0 0.004482 0 0 OR4K2 390431 broad.mit.edu 37 14 20344669 20344669 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20344669G>A ENST00000298642.2 + 1 279 c.243G>A c.(241-243)atG>atA p.M81I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCCCAAAGATGATTACAGATT 0.413000 29 114 0 0 0.005443 0 0 NEDD9 4739 broad.mit.edu 37 6 11191368 11191368 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:11191368G>A ENST00000379446.5 - 5 900 c.734C>T c.(733-735)cCt>cTt p.P245L NEDD9_ENST00000504387.1_Missense_Mutation_p.P245L|RP3-510L9.1_ENST00000500636.2_RNA NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 245 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TCTCATGGGAGGGGGGAAGTC 0.527000 34 52 0 0 0.013726 0 0 LRIG3 121227 broad.mit.edu 37 12 59274408 59274408 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:59274408G>A ENST00000320743.3 - 13 2042 c.1756C>T c.(1756-1758)Cac>Tac p.H586Y LRIG3_ENST00000379141.4_Missense_Mutation_p.H526Y NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 586 Ig-like C2-type 1. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) GAACCAAAGTGATTGGAGATG 0.448000 T ROS1 NSCLC 17 49 0 0 0.010504 0 0 SSX1 6756 broad.mit.edu 37 X 48116699 48116699 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:48116699C>A ENST00000376919.3 + 2 159 c.23C>A c.(22-24)gCa>gAa p.A8E NM_001278691.1|NM_005635.2 NP_001265620.1|NP_005626.1 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 GACACCTTTGCAAAGAGACCC 0.552000 T SS18 synovial sarcoma 26 16 1.36615e-20 1.44388e-20 0.013726 1 0 ABCA10 10349 broad.mit.edu 37 17 67197775 67197775 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:67197775G>A ENST00000269081.4 - 11 1950 c.1041C>T c.(1039-1041)ttC>ttT p.F347F ABCA10_ENST00000432313.2_Silent_p.F347F|ABCA10_ENST00000416101.2_Silent_p.F347F NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 347 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AGGACTTAAGGAAAAATAATG 0.328000 35 40 0 0 0.006999 0 0 RBP3 5949 broad.mit.edu 37 10 48382054 48382054 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:48382054C>T ENST00000224600.4 - 4 3708 c.3595G>A c.(3595-3597)Ggg>Agg p.G1199R NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1199 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TCCGAGGCCCCCACAGAACGG 0.642000 13 42 0 0 0.020292 0 0 C16orf70 80262 broad.mit.edu 37 16 67168101 67168101 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:67168101C>T ENST00000219139.3 + 7 669 c.481C>T c.(481-483)Cag>Tag p.Q161* C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.Q161* NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 161 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) GGCTTCTCTCCAGATACCCCA 0.483000 28 72 0 0 0.008361 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450628 85450628 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:85450628G>A ENST00000393217.2 + 8 2118 c.2057G>A c.(2056-2058)gGc>gAc p.G686D NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 686 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CCTTGTGAGGGCTTGAGTAAC 0.343000 15 41 0 0 0.020292 0 0 THSD7A 221981 broad.mit.edu 37 7 11676184 11676184 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:11676184C>T ENST00000423059.3 - 2 846 c.595G>A c.(595-597)Gaa>Aaa p.E199K NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 199 TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCAGAAAATTCAGACACGATG 0.592000 HNSCC(18;0.044) 24 36 0 0 0.021523 0 0 LRIT3 345193 broad.mit.edu 37 4 110791013 110791013 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:110791013C>T ENST00000327908.3 + 4 1323 c.559C>T c.(559-561)Cag>Tag p.Q187* LRIT3_ENST00000594814.1_Nonsense_Mutation_p.Q370*|LRIT3_ENST00000379920.3_Nonsense_Mutation_p.Q325*|LRIT3_ENST00000409621.2_Nonsense_Mutation_p.Q187* Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 325 LRRCT. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GTGGGATGTCCAGCCGGGATC 0.468000 43 110 0 0 0.014410 0 0 GPR125 166647 broad.mit.edu 37 4 22446706 22446706 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:22446706T>C ENST00000334304.5 - 6 865 c.596A>G c.(595-597)cAt>cGt p.H199R GPR125_ENST00000502482.1_Missense_Mutation_p.H199R|GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 199 LRRCT. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TACCCAGCGATGCATCCACAG 0.433000 9 11 0 0 0.006214 0 0 STAB2 55576 broad.mit.edu 37 12 104046436 104046436 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:104046436T>G ENST00000388887.2 + 12 1564 c.1360T>G c.(1360-1362)Ttc>Gtc p.F454V NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 454 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CACAGACATGTTCTACACCTT 0.393000 9 30 0 0 0.006214 0 0 FRAS1 80144 broad.mit.edu 37 4 79420968 79420968 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:79420968G>A ENST00000264895.6 + 61 9649 c.9209G>A c.(9208-9210)aGa>aAa p.R3070K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3065 Calx-beta 5. 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 GTGATCCGCAGAGGGGATCAG 0.552000 29 69 0 0 0.008361 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907419 12907419 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:12907419C>T ENST00000317869.6 - 2 949 c.724G>A c.(724-726)Ggg>Agg p.G242R NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCTGCACCCCCCTCAGACTCC 0.483000 34 116 0 0 0.015359 0 0 AXDND1 126859 broad.mit.edu 37 1 179494559 179494559 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:179494559G>A ENST00000367618.3 + 22 2974 c.2587G>A c.(2587-2589)Gaa>Aaa p.E863K NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 863 Glu-rich. 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 ACTTCAGGAGGAAAATAAAGA 0.343000 5 18 0 0 0.001984 0 0 TCF23 150921 broad.mit.edu 37 2 27375569 27375569 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:27375569G>A ENST00000296096.5 + 3 609 c.479G>A c.(478-480)cGa>cAa p.R160Q NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 160 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGCCGATGCGATCTCGTCTC 0.557000 15 41 0 0 0.004990 0 0 VPS13A 23230 broad.mit.edu 37 9 79824434 79824434 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:79824434C>T ENST00000360280.3 + 6 741 c.481C>T c.(481-483)Cgt>Tgt p.R161C VPS13A_ENST00000376636.3_Missense_Mutation_p.R161C|VPS13A_ENST00000357409.5_Missense_Mutation_p.R161C|VPS13A_ENST00000376634.4_Missense_Mutation_p.R161C NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 161 R -> H (in a colorectal cancer sample; somatic mutation). Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TATCCATATTCGTTATGAAGA 0.274000 5 6 0 0 0.014758 0 0 SERPINA3 12 broad.mit.edu 37 14 95081241 95081241 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:95081241G>A ENST00000553947.1 + 5 1426 c.538G>A c.(538-540)Gag>Aag p.E180K SERPINA3_ENST00000393080.4_Missense_Mutation_p.E155K|SERPINA3_ENST00000467132.1_Missense_Mutation_p.E155K|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E155K|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 155 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CAGGTTCACGGAGGATGCCAA 0.532000 10 30 0 0 0.006214 0 0 FBXL20 84961 broad.mit.edu 37 17 37441796 37441796 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:37441796G>A ENST00000264658.6 - 7 689 c.429C>T c.(427-429)tcC>tcT p.S143S FBXL20_ENST00000583610.1_Silent_p.S143S|FBXL20_ENST00000577399.1_Silent_p.S145S|FBXL20_ENST00000394294.3_Intron NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 143 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) GCCTGAGTTTGGAACAGAACT 0.348000 10 25 0 0 0.016723 0 0 CD244 51744 broad.mit.edu 37 1 160808808 160808808 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:160808808G>A ENST00000368034.4 - 4 864 c.687C>T c.(685-687)atC>atT p.I229I CD244_ENST00000322302.7_Silent_p.I137I|CD244_ENST00000368033.3_Silent_p.I234I|CD244_ENST00000368032.2_Silent_p.I229I|CD244_ENST00000481677.1_5'UTR NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 234 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTAGAATCACGATGATCACCA 0.517000 13 57 0 0 0.020292 0 0 AKAP9 10142 broad.mit.edu 37 7 91651607 91651607 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:91651607C>T ENST00000359028.2 + 14 4154 c.3929C>T c.(3928-3930)cCa>cTa p.P1310L AKAP9_ENST00000358100.2_Missense_Mutation_p.P1310L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P1298L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1310 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GAAAACCTTCCAAAAGAGGAA 0.338000 T BRAF papillary thyroid 17 57 0 0 0.014323 0 0 HEATR5B 54497 broad.mit.edu 37 2 37295975 37295975 + Silent SNP C C A rs143552035 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:37295975C>A ENST00000233099.5 - 8 1121 c.1026G>T c.(1024-1026)cgG>cgT p.R342R HEATR5B_ENST00000354531.2_Silent_p.R342R NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 342 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TTTGTGTTGCCCGAGGATGGG 0.493000 16 22 2.31682e-05 2.39818e-05 0.003163 1 0 ITIH1 3697 broad.mit.edu 37 3 52819165 52819165 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:52819165G>A ENST00000273283.2 + 12 1537 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K ITIH1_ENST00000540715.1_Missense_Mutation_p.E363K|ITIH1_ENST00000537050.1_Missense_Mutation_p.E217K|ITIH1_ENST00000542827.1_Missense_Mutation_p.E505K NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 505 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) ACAGTACTACGAAGGCTCAGA 0.562000 35 100 0 0 0.008740 0 0 ABCC2 1244 broad.mit.edu 37 10 101567916 101567916 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:101567916C>T ENST00000370449.4 + 13 1858 c.1745C>T c.(1744-1746)tCc>tTc p.S582F NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 582 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GCCTTCACCTCCATTACCCTC 0.483000 24 88 0 0 0.018920 0 0 DBF4B 80174 broad.mit.edu 37 17 42828202 42828202 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:42828202C>T ENST00000315005.3 + 14 1567 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 477 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) GCCCCTCCATCCCTCCCAAGA 0.607000 41 69 0 0 0.010771 0 0 IGSF21 84966 broad.mit.edu 37 1 18661492 18661492 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:18661492C>T ENST00000251296.1 + 4 795 c.412C>T c.(412-414)Ctc>Ttc p.L138F NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 138 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CAACATCTTCCTCAACGTCAT 0.587000 8 28 0 0 0.008291 0 0 ACSL3 2181 broad.mit.edu 37 2 223806250 223806250 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:223806250C>T ENST00000357430.3 + 17 2572 c.2041C>T c.(2041-2043)Cgt>Tgt p.R681C ACSL3_ENST00000392066.3_Missense_Mutation_p.R681C NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 681 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding p.R681C(5) cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) AGTAAAAATTCGTTTGAGTCC 0.378000 T ETV1 prostate 8 12 0 0 0.004482 0 0 IKZF1 10320 broad.mit.edu 37 7 50444296 50444296 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:50444296G>A ENST00000331340.3 + 4 381 c.226G>A c.(226-228)Gaa>Aaa p.E76K IKZF1_ENST00000439701.1_Missense_Mutation_p.E76K|IKZF1_ENST00000440768.2_Missense_Mutation_p.E76K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E76K|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.E76K|IKZF1_ENST00000359197.5_Missense_Mutation_p.E76K 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) 76 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) AATGAATGGGGAAGAATGTGC 0.498000 """D,T""" BCL6 """ALL, DLBCL""" 23 60 0 0 0.014323 0 0 MYH4 4622 broad.mit.edu 37 17 10348312 10348312 + Missense_Mutation SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:10348312A>C ENST00000255381.2 - 37 5557 c.5447T>G c.(5446-5448)aTc>aGc p.I1816S CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1816 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 CAGTTTCTGGATCTGCTTCTT 0.542000 32 85 0 0 0.015359 0 0 TRIML1 339976 broad.mit.edu 37 4 189063465 189063465 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:189063465C>T ENST00000332517.3 + 3 704 c.564C>T c.(562-564)ttC>ttT p.F188F RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 188 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGCACCAGTTCCTGAAGGAAG 0.443000 18 42 0 0 0.007413 0 0 HYDIN 54768 broad.mit.edu 37 16 70934932 70934932 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:70934932T>C ENST00000393567.2 - 53 9173 c.9023A>G c.(9022-9024)aAc>aGc p.N3008S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3008 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) CTTCTTGATGTTGACAGGCTT 0.517000 24 145 0 0 0.007835 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869717 22869717 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:22869717G>A ENST00000302097.3 - 2 490 c.238C>T c.(238-240)Cgt>Tgt p.R80C NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GGATATTGACGGAAGTGGCCT 0.468000 35 81 0 0 0.019004 0 0 SRCAP 10847 broad.mit.edu 37 16 30732570 30732570 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:30732570C>T ENST00000262518.4 + 21 3699 c.3314C>T c.(3313-3315)tCc>tTc p.S1105F SRCAP_ENST00000395059.2_Missense_Mutation_p.S1105F|SRCAP_ENST00000344771.4_Intron NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1105 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCAACCTTGTCCCTAAAGCCA 0.617000 37 108 0 0 0.021022 0 0 FMN2 56776 broad.mit.edu 37 1 240371412 240371412 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:240371412C>T ENST00000319653.9 + 5 3530 c.3300C>T c.(3298-3300)ccC>ccT p.P1100P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1100 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCCGCCCCCTCTACCCG 0.736000 26 26 0 0 0.015359 0 0 STK36 27148 broad.mit.edu 37 2 219553455 219553455 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:219553455C>T ENST00000295709.3 + 12 1695 c.1416C>T c.(1414-1416)atC>atT p.I472I STK36_ENST00000440309.1_Silent_p.I472I|STK36_ENST00000392105.3_Silent_p.I472I|STK36_ENST00000392106.2_Silent_p.I472I NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 472 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CTTCCCACATCCTGCCTGCAT 0.532000 37 131 0 0 0.010771 0 0 NINL 22981 broad.mit.edu 37 20 25498400 25498400 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:25498400G>A ENST00000278886.6 - 3 339 c.266C>T c.(265-267)tCt>tTt p.S89F NINL_ENST00000422516.1_Missense_Mutation_p.S89F NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 89 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGATTCCAAAGAACTACTGTC 0.378000 13 19 0 0 0.020292 0 0 GPR98 84059 broad.mit.edu 37 5 89990391 89990391 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:89990391G>A ENST00000405460.2 + 33 7914 c.7818G>A c.(7816-7818)gtG>gtA p.V2606V NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2606 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) AAACCTTGGTGGAGCTGATGA 0.463000 56 55 0 0 0.014410 0 0 COL16A1 1307 broad.mit.edu 37 1 32157113 32157113 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:32157113C>T ENST00000373672.3 - 19 1819 c.1302_splice c.e19-1 p.G435_splice COL16A1_ENST00000373668.3_Splice_Site_p.G435_splice|COL16A1_ENST00000271069.6_Splice_Site_p.G435_splice NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 435 Triple-helical region 9 (COL9) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCAGGGTCTCCCTGGCACAGA 0.662000 8 37 0 0 0.004482 0 0 CIC 23152 broad.mit.edu 37 19 42794405 42794405 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:42794405T>A ENST00000572681.2 + 11 4280 c.4212T>A c.(4210-4212)ttT>ttA p.F1404L CIC_ENST00000160740.3_Missense_Mutation_p.F495L|CIC_ENST00000575354.2_Missense_Mutation_p.F495L Q96RK0 CIC_HUMAN capicua transcriptional repressor 495 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) GGAAGGTGTTTTCACCTGTGA 0.617000 """Mis, F, S""" oligodendroglioma 35 79 0 0 0.019004 0 0 RBM6 10180 broad.mit.edu 37 3 50097165 50097165 + Silent SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:50097165C>A ENST00000443081.1 + 11 2737 c.1818C>A c.(1816-1818)gcC>gcA p.A606A RBM6_ENST00000266022.4_Silent_p.A738A|RBM6_ENST00000422955.1_Silent_p.A216A|RBM6_ENST00000539992.1_Silent_p.A80A|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000442092.1_Silent_p.A216A P78332 RBM6_HUMAN RNA binding motif protein 6 738 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TAAACCTGGCCACTGGAAAAC 0.468000 20 43 1.28384e-07 1.33914e-07 0.012319 1 0 LINC00303 284573 broad.mit.edu 37 1 204009447 204009447 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:204009447G>A ENST00000367207.3 - 0 249 AGACTGTAGGGGTGAGTTGAT 0.443000 4 17 0 0 0.009096 0 0 HYDIN 54768 broad.mit.edu 37 16 70995865 70995865 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:70995865G>A ENST00000393567.2 - 38 6115 c.5965C>T c.(5965-5967)Caa>Taa p.Q1989* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1989 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) CGGTTACTTTGGAAAATGATT 0.433000 11 37 0 0 0.003163 0 0 KIF15 56992 broad.mit.edu 37 3 44844342 44844342 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:44844342G>A ENST00000326047.4 + 14 1695 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K KIF15_ENST00000425755.1_Missense_Mutation_p.E151K NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 516 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GTATGCTATGGAAAATCATTC 0.383000 14 45 0 0 0.020292 0 0 OR5M1 390168 broad.mit.edu 37 11 56380060 56380060 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:56380060C>T ENST00000526538.1 - 1 918 c.919G>A c.(919-921)Gga>Aga p.G307R NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AAGGATTTTCCCCTAATCATT 0.378000 12 34 0 0 0.016723 0 0 FAT2 2196 broad.mit.edu 37 5 150946767 150946767 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:150946767C>T ENST00000261800.5 - 1 1738 c.1726G>A c.(1726-1728)Gac>Aac p.D576N NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 576 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTGGCCAGTCTTGGCGGATA 0.443000 81 83 0 0 0.014410 0 0 DTNBP1 84062 broad.mit.edu 37 6 15615570 15615570 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:15615570C>T ENST00000338950.5 - 6 521 c.416G>A c.(415-417)tGt>tAt p.C139Y DTNBP1_ENST00000355917.3_Missense_Mutation_p.C139Y|DTNBP1_ENST00000344537.5_Missense_Mutation_p.C139Y NM_183040.2 NP_898861.1 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 139 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) ACACTGCCCACATAAGTCTTC 0.383000 Hermansky-Pudlak syndrome 19 77 0 0 0.016522 0 0 GPR128 84873 broad.mit.edu 37 3 100352130 100352130 + Missense_Mutation SNP G G A rs143646459 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:100352130G>A ENST00000273352.3 + 4 624 c.356G>A c.(355-357)cGg>cAg p.R119Q NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 119 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 ATGGCAGTCCGGTTGTGCAGT 0.313000 8 48 0 0 0.004482 0 0 OR4K1 79544 broad.mit.edu 37 14 20404491 20404491 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20404491G>A ENST00000285600.4 + 1 725 c.666G>A c.(664-666)ttG>ttA p.L222L NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CCATCATTTTGATCGGTGTCC 0.433000 8 36 0 0 0.003080 0 0 MOB4 25843 broad.mit.edu 37 2 198415074 198415074 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:198415074T>C ENST00000323303.4 + 7 765 c.510T>C c.(508-510)gcT>gcC p.A170A MOB4_ENST00000448447.2_Silent_p.A149A|MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000409916.1_Silent_p.A71A|MOB4_ENST00000409360.1_Silent_p.A138A|MOB4_ENST00000233892.4_Silent_p.A138A|MOB4_ENST00000604458.1_Silent_p.A206A NM_001202485.1|NM_015387.4 NP_001189414.1|NP_056202.2 MOB family member 4, phocein TTTCACATGCTTATTTTCATC 0.318000 10 15 0 0 0.006214 0 0 SALL1 6299 broad.mit.edu 37 16 51175386 51175386 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:51175386C>T ENST00000440970.1 - 2 887 c.456G>A c.(454-456)caG>caA p.Q152Q SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.Q249Q NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 249 Poly-Ser. 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) GGTGACGAATCTGTTCGATCA 0.537000 32 67 0 0 0.013726 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722355 58722355 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:58722355G>A ENST00000300079.5 + 5 442 c.392G>A c.(391-393)aGa>aAa p.R131K GLYATL1_ENST00000317391.4_Missense_Mutation_p.R100K|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 1 100 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TGGAAACAGAGACTCCAAATC 0.403000 8 13 0 0 0.003080 0 0 PWP2 5822 broad.mit.edu 37 21 45535744 45535744 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:45535744A>G ENST00000291576.7 + 7 906 c.779A>G c.(778-780)aAa>aGa p.K260R NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 260 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ATCCGGGGAAAAGCCACTCCG 0.627000 6 11 0 0 0.001168 0 0 SULT1C4 27233 broad.mit.edu 37 2 108999630 108999630 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:108999630C>T ENST00000272452.2 + 4 801 c.475C>T c.(475-477)Cca>Tca p.P159S SULT1C4_ENST00000409309.3_Intron NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 159 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 TCTTCCTGCTCCAGGAACATG 0.418000 28 64 0 0 0.005443 0 0 AOC1 26 broad.mit.edu 37 7 150554734 150554734 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:150554734G>A ENST00000493429.1 + 4 1760 c.1176G>A c.(1174-1176)ccG>ccA p.P392P AOC1_ENST00000416793.2_Silent_p.P392P|AOC1_ENST00000467291.1_Silent_p.P392P|AOC1_ENST00000360937.4_Silent_p.P392P amine oxidase, copper containing 1 TCGACTGCCCGGAGACCGCCA 0.607000 48 89 0 0 0.014410 0 0 TAOK2 9344 broad.mit.edu 37 16 29999125 29999125 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:29999125C>T ENST00000308893.4 + 16 4575 c.3532C>T c.(3532-3534)Cac>Tac p.H1178Y TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.H1005Y|TAOK2_ENST00000543033.1_Missense_Mutation_p.H1065Y NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1178 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GTGGGCCATCCACACACTGGC 0.687000 13 25 0 0 0.016723 0 0 OR6C4 341418 broad.mit.edu 37 12 55945196 55945196 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:55945196G>A ENST00000394256.2 + 1 214 c.186G>A c.(184-186)cgG>cgA p.R62R RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TCTTCCTCCGGAATTTCTCCT 0.428000 9 38 0 0 0.006214 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013747 99013747 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:99013747G>A ENST00000375263.3 - 5 453 c.406C>T c.(406-408)Cca>Tca p.P136S HSD17B3_ENST00000375262.2_Missense_Mutation_p.P136S NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 136 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) AGAAGGTTTGGAAGCATTCCG 0.443000 7 40 0 0 0.003080 0 0 ACTN3 89 broad.mit.edu 37 11 66321524 66321524 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:66321524G>A ENST00000502692.1 + 0 636 ACTN3_ENST00000513398.1_RNA NM_001258371.1 NP_001245300.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 AGAGATTGTTGACGGGAACCT 0.552000 17 42 0 0 0.006122 0 0 VPS41 27072 broad.mit.edu 37 7 38781671 38781671 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:38781671G>A ENST00000310301.4 - 25 2227 c.2173C>T c.(2173-2175)Cta>Tta p.L725L VPS41_ENST00000395969.2_Silent_p.L700L NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 725 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TGAATCAGTAGAATTGGGTCA 0.343000 11 17 0 0 0.008291 0 0 AKAP9 10142 broad.mit.edu 37 7 91691662 91691662 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:91691662C>T ENST00000359028.2 + 25 6100 c.5875C>T c.(5875-5877)Cgt>Tgt p.R1959C AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1959C|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1947C Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1959 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATAATAGATCGTCTTGAGCA 0.358000 T BRAF papillary thyroid 10 31 0 0 0.010729 0 0 VANGL2 57216 broad.mit.edu 37 1 160390266 160390266 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:160390266C>T ENST00000368061.2 + 5 1340 c.866C>T c.(865-867)gCc>gTc p.A289V VANGL2_ENST00000483408.1_Intron NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 289 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TACAACCCTGCCCTCCTCAAC 0.607000 26 89 0 0 0.021523 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21883634 21883634 + Missense_Mutation SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:21883634G>C ENST00000319481.3 - 14 1347 c.1141C>G c.(1141-1143)Ctc>Gtc p.L381V OSBPL1A_ENST00000357041.4_5'UTR NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 381 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) ATCATTTTGAGAAAGTTGGAA 0.333000 26 98 0 0 0.013726 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147600726 147600726 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:147600726C>T ENST00000361727.3 + 14 2684 c.2168C>T c.(2167-2169)cCt>cTt p.P723L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 723 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) GGCTCTGGGCCTGGAATCCAG 0.512000 HNSCC(39;0.1) 10 26 0 0 0.010729 0 0 BRAF 673 broad.mit.edu 37 7 140453193 140453193 + Splice_Site SNP T T G rs121913370 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:140453193T>G ENST00000288602.6 - 15 1802 c.1741_splice c.e15-1 p.N581_splice NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.N581S(9)|p.N581I(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AAGAAATATATCTGAGGTGTA 0.358000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 6 27 0 0 0.001984 0 0 TMEM119 338773 broad.mit.edu 37 12 108986011 108986011 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:108986011G>A ENST00000392806.3 - 2 317 c.149C>T c.(148-150)tCc>tTc p.S50F NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 50 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GCTCGGGGAGGAGGCCGACGA 0.716000 6 18 0 0 0.001984 0 0 SAMD9 54809 broad.mit.edu 37 7 92731571 92731571 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:92731571G>A ENST00000379958.2 - 3 4109 c.3840C>T c.(3838-3840)ccC>ccT p.P1280P NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1280 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TATTGTTCCTGGGTTTTAGCA 0.299000 18 38 0 0 0.008871 0 0 TBXA2R 6915 broad.mit.edu 37 19 3595724 3595724 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:3595724G>A ENST00000375190.4 - 3 1387 c.994C>T c.(994-996)Ctc>Ttc p.L332F TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.P202L NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 332 platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) TGGGGCTGGAGGGACAGCGAC 0.706000 11 4 0 0 0.010729 0 0 TENM3 55714 broad.mit.edu 37 4 183594300 183594300 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:183594300C>T ENST00000511685.1 + 7 1377 c.1254C>T c.(1252-1254)ttC>ttT p.F418F TENM3_ENST00000406950.2_Silent_p.F418F teneurin transmembrane protein 3 TTCTTAAATTCAATATCTCTC 0.433000 10 27 0 0 0.010729 0 0 GTF3C2 2976 broad.mit.edu 37 2 27558793 27558793 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:27558793G>A ENST00000359541.2 - 9 1887 c.1458C>T c.(1456-1458)acC>acT p.T486T AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Silent_p.T486T Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 486 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTCCGAGGGGTGCCTGGAA 0.552000 10 29 0 0 0.010729 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770241 91770241 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:91770241C>T ENST00000389857.6 - 20 3525 c.3439G>A c.(3439-3441)Gag>Aag p.E1147K NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1147 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTCTCCGTCTCCTTGGCCGTG 0.652000 21 58 0 0 0.016522 0 0 SMAD9 4093 broad.mit.edu 37 13 37427614 37427614 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:37427614C>T ENST00000379826.4 - 6 1544 c.1202G>A c.(1201-1203)gGc>gAc p.G401D SMAD9_ENST00000399275.2_Missense_Mutation_p.G401D|SMAD9_ENST00000350148.5_Missense_Mutation_p.G364D NM_001127217.2 NP_001120689.1 O15198 SMAD9_HUMAN SMAD family member 9 401 MH2. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GACTTCAAAGCCGTGGTGAAC 0.493000 16 23 0 0 0.004007 0 0 NCOA2 10499 broad.mit.edu 37 8 71069449 71069449 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:71069449G>A ENST00000452400.2 - 11 1332 c.1151C>T c.(1150-1152)cCg>cTg p.P384L NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 384 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity p.P384L(1) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGTCAGATCCGGATTCATCAC 0.413000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 14 39 0 0 0.004990 0 0 OR2G6 391211 broad.mit.edu 37 1 248685273 248685273 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:248685273C>T ENST00000343414.4 + 1 358 c.326C>T c.(325-327)tCg>tTg p.S109L NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S109L(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGTTGGGCTCGTCTGAGTGT 0.547000 29 93 0 0 0.010818 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221645 67221645 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:67221645C>T ENST00000314586.6 - 5 763 c.523G>A c.(523-525)Gat>Aat p.D175N EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 175 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCCCACGTATCCTCTCGCAGC 0.617000 12 60 0 0 0.013537 0 0 PPIG 9360 broad.mit.edu 37 2 170470973 170470973 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:170470973G>A ENST00000260970.3 + 8 597 c.e8-1 PPIG_ENST00000409714.3_Splice_Site|PPIG_ENST00000448752.2_Splice_Site|PPIG_ENST00000462903.1_Splice_Site NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 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) ATTTCCAAAAGAACAACGAAA 0.244000 20 45 0 0 0.018920 0 0 KIAA1614 57710 broad.mit.edu 37 1 180910413 180910413 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:180910413C>G ENST00000367588.4 + 7 3206 c.3151C>G c.(3151-3153)Ctg>Gtg p.L1051V KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Missense_Mutation_p.L672V NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 1051 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GTTACAATCCCTGCACCCGGT 0.637000 12 54 0 0 0.020292 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043181 71043181 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:71043181G>A ENST00000272367.2 - 4 1408 c.1332C>T c.(1330-1332)cgC>cgT p.R444R CLEC4F_ENST00000426626.1_Silent_p.R444R NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 444 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 GGGTCTTCAGGCGACTCTGCT 0.522000 15 45 0 0 0.003163 0 0 OR2L2 26246 broad.mit.edu 37 1 248202104 248202104 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:248202104G>A ENST00000366479.2 + 1 631 c.535G>A c.(535-537)Gat>Aat p.D179N OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTTTTTCTGTGATGTTCCAGC 0.443000 97 103 0 0 0.014410 0 0 STPG2 285555 broad.mit.edu 37 4 98865133 98865133 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:98865133C>T ENST00000295268.3 - 8 1048 c.959G>A c.(958-960)gGa>gAa p.G320E NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 ATCAGAAATTCCCACACCCTG 0.328000 14 31 0 0 0.006122 0 0 FBN3 84467 broad.mit.edu 37 19 8194148 8194148 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:8194148C>T ENST00000600128.1 - 17 2560 c.2146G>A c.(2146-2148)Ggt>Agt p.G716S FBN3_ENST00000601739.1_Missense_Mutation_p.G716S|FBN3_ENST00000270509.2_Missense_Mutation_p.G716S Q75N90 FBN3_HUMAN fibrillin 3 716 EGF-like 8; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTGAGGCACCTGCCTCATAA 0.627000 23 21 0 0 0.014323 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309711 89309711 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:89309711C>T ENST00000493819.1 - 0 176 GATGGTGACTCTGTCTCCTAC 0.478000 43 128 0 0 0.011902 0 0 GRM8 2918 broad.mit.edu 37 7 126173342 126173342 + Silent SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:126173342G>T ENST00000339582.2 - 9 2902 c.2094C>A c.(2092-2094)atC>atA p.I698I GRM8_ENST00000444921.2_Silent_p.I698I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.I698I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 698 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane 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) GGCTGAAGGTGATCACCAGCT 0.507000 HNSCC(24;0.065) 22 34 1.2644e-06 1.31685e-06 0.010504 1 0 ZFP42 132625 broad.mit.edu 37 4 188924723 188924723 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:188924723G>A ENST00000326866.4 + 4 1170 c.762G>A c.(760-762)aaG>aaA p.K254K ZFP42_ENST00000509524.1_Silent_p.K254K NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 254 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) GGTGCGGAAAGCGCTTCTCTC 0.493000 11 34 0 0 0.010729 0 0 CHD5 26038 broad.mit.edu 37 1 6206417 6206417 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:6206417G>A ENST00000262450.3 - 11 1756 c.1657C>T c.(1657-1659)Ccc>Tcc p.P553S CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 553 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TAGTCAAAGGGGGGCGGCTCA 0.552000 12 55 0 0 0.020292 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44511516 44511516 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:44511516C>A ENST00000372523.1 + 2 380 c.285C>A c.(283-285)ttC>ttA p.F95L ZSWIM1_ENST00000372520.1_Missense_Mutation_p.F95L NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 95 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) TATATACCTTCCTGGTGGATG 0.517000 20 48 1.01871e-10 1.06917e-10 0.008871 1 0 TAOK1 57551 broad.mit.edu 37 17 27869900 27869900 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:27869900C>T ENST00000261716.3 + 20 3385 c.2866C>T c.(2866-2868)Cga>Tga p.R956* TAOK1_ENST00000536202.1_Nonsense_Mutation_p.R808* NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 956 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGGGGTACCTCGAGGTAGCAG 0.632000 19 23 0 0 0.007413 0 0 AHR 196 broad.mit.edu 37 7 17379741 17379741 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:17379741T>G ENST00000242057.4 + 10 2935 c.2292T>G c.(2290-2292)tgT>tgG p.C764W NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 764 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTCAGACATGTTATGCTGGGG 0.463000 16 40 0 0 0.010504 0 0 MYH15 22989 broad.mit.edu 37 3 108219053 108219053 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:108219053G>A ENST00000273353.3 - 5 524 c.468C>T c.(466-468)gtC>gtT p.V156V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 156 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 AGGCGGCCATGACTTCTTTCT 0.468000 11 28 0 0 0.020292 0 0 CLSTN3 9746 broad.mit.edu 37 12 7290645 7290645 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:7290645C>T ENST00000537408.1 + 7 1879 c.1341C>T c.(1339-1341)ttC>ttT p.F447F CLSTN3_ENST00000266546.6_Silent_p.F435F Q9BQT9 CSTN3_HUMAN calsyntenin 3 435 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CAGTCAAGTTCCTCTGGAAGC 0.587000 14 52 0 0 0.020292 0 0 SNHG14 104472715 broad.mit.edu 37 15 25488604 25488604 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:25488604G>A ENST00000453082.2 + 0 2232 NR_003343.1 CTTGTGTTGGGCCTGCTGTTC 0.592000 3 11 0 0 0.004672 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448887 89448887 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:89448887G>A ENST00000399794.2 - 3 1338 c.623C>T c.(622-624)tCc>tTc p.S208F CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S208F NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 208 nucleotide binding|RNA binding ATCTCTTGGGGACAAATAAAC 0.463000 36 124 0 0 0.007835 0 0 SPOPL 339745 broad.mit.edu 37 2 139308526 139308526 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:139308526C>T ENST00000280098.4 + 4 633 c.254C>T c.(253-255)tCc>tTc p.S85F NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 85 MATH. nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) GACTACTTGTCCTTATATTTG 0.358000 14 49 0 0 0.020292 0 0 SLC4A5 57835 broad.mit.edu 37 2 74460589 74460589 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:74460589C>T ENST00000394019.2 - 23 2932 c.2535G>A c.(2533-2535)ctG>ctA p.L845L SLC4A5_ENST00000358683.4_Silent_p.L743L|SLC4A5_ENST00000346834.4_Silent_p.L845L|SLC4A5_ENST00000357822.5_Silent_p.L845L|SLC4A5_ENST00000359484.4_Silent_p.L743L|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.L845L|SLC4A5_ENST00000377632.1_Silent_p.L845L|SLC4A5_ENST00000377634.4_Silent_p.L845L NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 845 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CCATGAAGATCAGGATGGTCA 0.572000 15 37 0 0 0.004007 0 0 SLC11A2 4891 broad.mit.edu 37 12 51385436 51385436 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:51385436G>A ENST00000394904.3 - 14 1503 c.1454C>T c.(1453-1455)cCc>cTc p.P485L SLC11A2_ENST00000545993.2_Missense_Mutation_p.P452L|SLC11A2_ENST00000546743.1_Missense_Mutation_p.P377L|SLC11A2_ENST00000262052.5_Missense_Mutation_p.P456L|SLC11A2_ENST00000541174.2_Missense_Mutation_p.P456L|SLC11A2_ENST00000547198.1_Missense_Mutation_p.P456L|SLC11A2_ENST00000262051.7_Missense_Mutation_p.P456L|SLC11A2_ENST00000547688.1_Missense_Mutation_p.P485L NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 456 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 TGTGAGGATGGGTATGAGAGC 0.458000 7 21 0 0 0.003080 0 0 CPT1A 1374 broad.mit.edu 37 11 68529012 68529012 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:68529012G>A ENST00000265641.5 - 16 2173 c.2019C>T c.(2017-2019)ttC>ttT p.F673F CPT1A_ENST00000539743.1_Silent_p.F673F|CPT1A_ENST00000540367.1_Silent_p.F673F|CPT1A_ENST00000376618.2_Silent_p.F673F NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 673 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CTTCCTTAAGGAAAGGGGACT 0.443000 30 112 0 0 0.009535 0 0 NUTF2 10204 broad.mit.edu 37 16 67904742 67904742 + Silent SNP C C T rs34777458 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:67904742C>T ENST00000219169.4 + 5 593 c.310C>T c.(310-312)Cta>Tta p.L104L NUTF2_ENST00000569436.2_Silent_p.L104L|CTC-479C5.16_ENST00000587481.1_RNA|NUTF2_ENST00000568396.2_Silent_p.L104L NM_005796.1 NP_005787.1 P61970 NTF2_HUMAN nuclear transport factor 2 104 NTF2. protein transport cytosol|nuclear pore protein binding|transporter activity kidney(1)|lung(2)|upper_aerodigestive_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129) CCAGATGTTCCTATTAAAGAA 0.498000 22 113 0 0 0.004656 0 0 OR4E2 26686 broad.mit.edu 37 14 22134166 22134166 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:22134166G>A ENST00000408935.1 + 1 870 c.870G>A c.(868-870)agG>agA p.R290R NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ACACCTTGAGGAATGAGGAGG 0.448000 6 16 0 0 0.001984 0 0 DNPEP 23549 broad.mit.edu 37 2 220239598 220239598 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:220239598G>A ENST00000273075.4 - 14 1606 c.1386C>T c.(1384-1386)ctC>ctT p.L462L DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Silent_p.L470L|DNPEP_ENST00000373972.1_Silent_p.L387L NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 452 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) TGAGGGTCTGGAGGACTCCTG 0.612000 9 33 0 0 0.004482 0 0 SULF1 23213 broad.mit.edu 37 8 70550829 70550829 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:70550829T>G ENST00000260128.4 + 20 3094 c.2377T>G c.(2377-2379)Ttt>Gtt p.F793V SULF1_ENST00000402687.4_Missense_Mutation_p.F793V|SULF1_ENST00000458141.2_Missense_Mutation_p.F793V|SULF1_ENST00000419716.3_Missense_Mutation_p.F793V|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 793 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) TTTCTGTGAGTTTGCTACTGG 0.363000 33 82 0 0 0.013726 0 0 TFEB 7942 broad.mit.edu 37 6 41658526 41658526 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:41658526G>A ENST00000394283.1 - 3 1569 c.343C>T c.(343-345)Ccg>Tcg p.P115S TFEB_ENST00000230323.4_Missense_Mutation_p.P115S|TFEB_ENST00000358871.2_Missense_Mutation_p.P129S|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000403298.4_Missense_Mutation_p.P115S|TFEB_ENST00000373033.1_Missense_Mutation_p.P115S P19484 TFEB_HUMAN transcription factor EB 115 GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGGGTTTCGGAGAGCCCTGG 0.632000 T ALPHA renal (childhood epithelioid) 7 37 0 0 0.006214 0 0 PILRB 29990 broad.mit.edu 37 7 99955856 99955856 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:99955856C>T ENST00000448382.1 + 6 1414 c.297C>T c.(295-297)ccC>ccT p.P99P PILRB_ENST00000452089.1_5'UTR|PILRB_ENST00000444874.1_5'UTR|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000310771.4_5'UTR Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 0 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCAGGCAGCCCCTCCACAGGG 0.692000 21 50 0 0 0.012319 0 0 LY96 23643 broad.mit.edu 37 8 74941192 74941192 + Splice_Site SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:74941192G>T ENST00000284818.2 + 5 477 c.384_splice c.e5-1 p.G129_splice LY96_ENST00000518893.1_Splice_Site_p.G99_splice NM_015364.4 NP_056179.3 Q9Y6Y9 LY96_HUMAN lymphocyte antigen 96 129 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TCATTTTAGGGAAAATACAAA 0.333000 15 27 2.31682e-05 2.39818e-05 0.003163 1 0 TRAV3 28690 broad.mit.edu 37 14 22192510 22192510 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:22192510G>A ENST00000390425.2 + 0 461 CCTTCCACCTGAAGAAACCAT 0.493000 27 32 0 0 0.021523 0 0 HELLS 3070 broad.mit.edu 37 10 96313988 96313988 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:96313988G>A ENST00000348459.5 + 3 364 c.259G>A c.(259-261)Gaa>Aaa p.E87K HELLS_ENST00000394036.1_Missense_Mutation_p.E87K|HELLS_ENST00000394044.1_Missense_Mutation_p.E87K|HELLS_ENST00000371332.4_Missense_Mutation_p.E87K|HELLS_ENST00000239026.6_Missense_Mutation_p.E87K|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.E87K NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 87 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GACGAAAATGGAACAGCAACA 0.299000 24 75 0 0 0.004656 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572802 38572802 + Silent SNP C C T rs141215232 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:38572802C>T ENST00000222345.6 + 3 1106 c.597C>T c.(595-597)ttC>ttT p.F199F NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 199 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGCCCCTCTTCCGCGAGTACG 0.706000 13 34 0 0 0.020292 0 0 IGSF3 3321 broad.mit.edu 37 1 117150580 117150580 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:117150580G>A ENST00000369486.3 - 5 1971 c.1206C>T c.(1204-1206)atC>atT p.I402I IGSF3_ENST00000318837.6_Silent_p.I402I|IGSF3_ENST00000369483.1_Silent_p.I402I NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 402 Ig-like C2-type 4. integral to membrane p.I402I(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGAGGACTATGATGGGGATGT 0.502000 7 172 0 0 0.008291 0 0 NPSR1 387129 broad.mit.edu 37 7 34888189 34888189 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:34888189G>A ENST00000360581.1 + 8 1067 c.939G>A c.(937-939)gtG>gtA p.V313V NPSR1_ENST00000531252.1_Silent_p.V302V|NPSR1_ENST00000381542.1_Silent_p.V247V|NPSR1_ENST00000381539.3_Silent_p.V313V|NPSR1_ENST00000359791.1_Silent_p.V313V NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 313 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ATGCCTCTGTGATCATTCAGA 0.502000 58 143 0 0 0.014410 0 0 BRINP1 1620 broad.mit.edu 37 9 121929907 121929907 + Nonsense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:121929907C>A ENST00000265922.3 - 8 2202 c.1741G>T c.(1741-1743)Gaa>Taa p.E581* DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 581 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TAGCCAAATTCCCCGAAGGGC 0.537000 25 76 4.87955e-14 5.14516e-14 0.005443 1 0 OVCH1 341350 broad.mit.edu 37 12 29617568 29617568 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:29617568G>A ENST00000318184.5 - 18 1996 c.1997C>T c.(1996-1998)gCc>gTc p.A666V OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 666 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TTGTATTAGGGCAATGTCAGA 0.463000 10 31 0 0 0.008291 0 0 C6 729 broad.mit.edu 37 5 41181522 41181522 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:41181522C>T ENST00000263413.3 - 7 1130 c.866G>A c.(865-867)aGa>aAa p.R289K C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R289K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 289 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTTTCACTTCTCTTTGAGGA 0.363000 7 45 0 0 0.003080 0 0 EZH2 2146 broad.mit.edu 37 7 148508727 148508727 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:148508727T>A ENST00000320356.2 - 16 2058 c.1937A>T c.(1936-1938)tAc>tTc p.Y646F EZH2_ENST00000541220.1_Missense_Mutation_p.Y590F|EZH2_ENST00000350995.2_Missense_Mutation_p.Y602F|EZH2_ENST00000483967.1_Missense_Mutation_p.Y632F|EZH2_ENST00000460911.1_Missense_Mutation_p.Y641F|EZH2_ENST00000478654.1_Missense_Mutation_p.Y590F|EZH2_ENST00000476773.1_Missense_Mutation_p.Y590F NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 641 SET. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.Y646F(59)|p.Y646S(22)|p.Y602F(8)|p.Y646C(6)|p.Y602S(4) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CTCTCCACAGTATTCTGAGAT 0.378000 Mis DLBCL 9 33 0 0 0.006214 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58022919 58022919 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:58022919G>A ENST00000341156.4 - 7 1307 c.723C>T c.(721-723)tcC>tcT p.S241S B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Silent_p.S186S NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 241 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTCCCTCGGTGGAGAACCGGA 0.537000 8 23 0 0 0.008291 0 0 DCLK1 9201 broad.mit.edu 37 13 36700097 36700097 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:36700097G>A ENST00000255448.4 - 2 389 c.178C>T c.(178-180)Cgt>Tgt p.R60C DCLK1_ENST00000379892.4_Missense_Mutation_p.R60C|DCLK1_ENST00000360631.3_Missense_Mutation_p.R60C NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 60 Doublecortin 1. 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) CGATAGAAACGAACTTTCTTG 0.582000 26 41 0 0 0.004656 0 0 TMEM27 57393 broad.mit.edu 37 X 15646196 15646196 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:15646196C>T ENST00000380342.3 - 6 822 c.567G>A c.(565-567)atG>atA p.M189I NM_020665.4 NP_065716.1 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 189 proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity endometrium(3)|lung(4)|ovary(1) 8 Hepatocellular(33;0.183) CAATTGTGATCATGTTTTCAC 0.428000 10 5 0 0 0.008291 0 0 PSKH1 5681 broad.mit.edu 37 16 67943579 67943579 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:67943579C>T ENST00000291041.5 + 2 1097 c.927C>T c.(925-927)atC>atT p.I309I NM_006742.2 NP_006733.1 P11801 KPSH1_HUMAN protein serine kinase H1 309 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1) 12 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) ACCGGCAGATCCTCAGGGGCA 0.597000 5 17 0 0 0.014758 0 0 OR4D9 390199 broad.mit.edu 37 11 59283138 59283138 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:59283138C>T ENST00000329328.3 + 1 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CCCTGCATTTCGTGCCCTGCA 0.562000 66 154 0 0 0.014410 0 0 CACNA1E 777 broad.mit.edu 37 1 181767540 181767540 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:181767540C>T ENST00000526775.1 + 46 6491 c.6326C>T c.(6325-6327)tCc>tTc p.S2109F CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1735F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2122F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2152F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2060F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2171F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2128F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2171 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 CCCCTCCTTTCCTACAGCTCC 0.622000 28 111 0 0 0.007291 0 0 AATF 26574 broad.mit.edu 37 17 35376338 35376338 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:35376338C>T ENST00000225402.5 + 9 1684 c.1433C>T c.(1432-1434)tCc>tTc p.S478F NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 478 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) AAGACCAGCTCCTTGGATCCC 0.438000 35 52 0 0 0.008740 0 0 OR6C75 390323 broad.mit.edu 37 12 55759556 55759556 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:55759556G>A ENST00000343399.3 + 1 662 c.662G>A c.(661-663)cGg>cAg p.R221Q NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 221 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 AACATCATCCGGACAATTCTG 0.388000 7 21 0 0 0.003080 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077861 19077861 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:19077861G>A ENST00000329773.2 - 2 176 c.89C>T c.(88-90)aCc>aTc p.T30I NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 30 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 CGGGATCAGGGTCTCCTTGCC 0.562000 85 166 0 0 0.014410 0 0 FLG2 388698 broad.mit.edu 37 1 152330124 152330124 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:152330124C>T ENST00000388718.5 - 3 211 c.e3-1 FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATCTGGGTTCTGTATATGAG 0.408000 4 32 0 0 0.009096 0 0 OR5I1 10798 broad.mit.edu 37 11 55703536 55703536 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:55703536G>A ENST00000301532.3 - 1 340 c.341C>T c.(340-342)tCc>tTc p.S114F NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CAGGATGAAGGATTCTGTATC 0.438000 4 4 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9062259 9062259 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:9062259G>A ENST00000397910.4 - 3 25390 c.25187C>T c.(25186-25188)tCc>tTc p.S8396F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8398 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 GTCAGAAGTGGATATGGAAAC 0.483000 27 22 0 0 0.004656 0 0 DENND5A 23258 broad.mit.edu 37 11 9168652 9168652 + Nonsense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:9168652C>A ENST00000328194.3 - 16 3102 c.2782G>T c.(2782-2784)Gag>Tag p.E928* DENND5A_ENST00000530044.1_Nonsense_Mutation_p.E928*|DENND5A_ENST00000527700.1_Nonsense_Mutation_p.E271* NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 928 RUN 1. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AGGAACTGCTCCTTCTCGTCA 0.478000 27 55 4.87955e-14 5.14516e-14 0.005443 1 0 SSPO 23145 broad.mit.edu 37 7 149511897 149511897 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:149511897C>T ENST00000378016.2 + 0 10447 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) GCCATGGTCTCCCTGCGACAT 0.697000 4 3 0 0 0.014758 0 0 ALMS1 7840 broad.mit.edu 37 2 73680811 73680811 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:73680811C>A ENST00000264448.6 + 8 7265 c.7154C>A c.(7153-7155)tCt>tAt p.S2385Y ALMS1_ENST00000409009.1_Missense_Mutation_p.S2343Y|ALMS1_ENST00000377715.1_Missense_Mutation_p.S2385Y NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2385 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 GCAGCCAAATCTGTAATGAGG 0.383000 8 19 5.18039e-06 5.37872e-06 0.003080 1 0 BOD1L2 284257 broad.mit.edu 37 18 54814967 54814967 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:54814967G>A ENST00000585477.1 + 1 675 c.424G>A c.(424-426)Gaa>Aaa p.E142K NM_001257964.1 NP_001244893.1 biorientation of chromosomes in cell division 1-like 2 AATAATTCATGAATTCCTGGT 0.507000 13 19 0 0 0.016723 0 0 DNAI1 27019 broad.mit.edu 37 9 34506686 34506686 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:34506686C>T ENST00000242317.4 + 13 1296 c.1125C>T c.(1123-1125)ttC>ttT p.F375F NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 375 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) ACCCCAGCTTCCCTGAGTACA 0.587000 Kartagener syndrome 16 41 0 0 0.006122 0 0 BPIFA3 128861 broad.mit.edu 37 20 31805385 31805385 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:31805385C>T ENST00000375454.3 + 1 253 c.43C>T c.(43-45)Ctg>Ttg p.L15L BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.L15L NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 15 extracellular region lipid binding CCTCGGGTTGCTGGCCTTGCC 0.597000 13 60 0 0 0.020292 0 0 OR4M1 441670 broad.mit.edu 37 14 20248616 20248616 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20248616C>T ENST00000315957.4 + 1 216 c.135C>T c.(133-135)atC>atT p.I45I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATCCTTATCATTTGCACCA 0.433000 29 134 0 0 0.008361 0 0 CHFR 55743 broad.mit.edu 37 12 133430057 133430057 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:133430057G>A ENST00000266880.7 - 12 1431 c.1368C>T c.(1366-1368)gcC>gcT p.A456A CHFR_ENST00000315585.7_Silent_p.A415A|CHFR_ENST00000537522.1_Silent_p.A78A|CHFR_ENST00000443047.2_Silent_p.A364A|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.A444A|CHFR_ENST00000432561.2_Silent_p.A456A Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 456 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CATCCCCCAGGGCCTGTGGGG 0.697000 3 5 0 0 0.009096 0 0 FAM154A 158297 broad.mit.edu 37 9 18928076 18928076 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:18928076G>A ENST00000380534.4 - 4 1678 c.1399C>T c.(1399-1401)Cag>Tag p.Q467* FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Nonsense_Mutation_p.Q275* NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 467 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) AACTCCCTCTGGTTGGGGTTT 0.403000 37 107 0 0 0.007835 0 0 VPS13B 157680 broad.mit.edu 37 8 100887879 100887879 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:100887879G>A ENST00000358544.2 + 62 12165 c.12054G>A c.(12052-12054)agG>agA p.R4018R VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3993R NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 4018 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGCCCTGAGGAAAGGGTTTC 0.443000 13 53 0 0 0.003163 0 0 SCTR 6344 broad.mit.edu 37 2 120206320 120206320 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:120206320G>A ENST00000019103.5 - 10 1225 c.958C>T c.(958-960)Ctg>Ttg p.L320L NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 320 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) TTTCTCATCAGGATTCTTAGA 0.433000 6 19 0 0 0.001168 0 0 AATF 26574 broad.mit.edu 37 17 35376339 35376339 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:35376339C>T ENST00000225402.5 + 9 1685 c.1434C>T c.(1432-1434)tcC>tcT p.S478S NM_012138.3 NP_036270.1 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 478 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2) 18 Breast(25;0.00607) AGACCAGCTCCTTGGATCCCA 0.438000 34 53 0 0 0.007835 0 0 KCNA3 3738 broad.mit.edu 37 1 111216243 111216243 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:111216243C>T ENST00000369769.2 - 1 1412 c.1189G>A c.(1189-1191)Gag>Aag p.E397K NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 397 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) AATCCCAGCTCCCGCATGGAC 0.582000 25 67 0 0 0.018920 0 0 LEPREL1 55214 broad.mit.edu 37 3 189712007 189712007 + Silent SNP G G A rs114077778 by1000genomes TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:189712007G>A ENST00000319332.5 - 3 896 c.699C>T c.(697-699)ttC>ttT p.F233F LEPREL1_ENST00000427335.2_Silent_p.F52F NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 233 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) AGGCTTGTTCGAAGTGCCTGA 0.403000 8 31 0 0 0.004482 0 0 ZNF549 256051 broad.mit.edu 37 19 58048918 58048918 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:58048918C>T ENST00000376233.3 + 4 727 c.546C>T c.(544-546)ttC>ttT p.F182F ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Silent_p.F169F NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAATCTTTTCCCATGCAAAG 0.483000 15 27 0 0 0.003163 0 0 NPY4R 5540 broad.mit.edu 37 10 47086923 47086923 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:47086923C>T ENST00000374312.1 + 3 559 c.140C>T c.(139-141)tCc>tTc p.S47F NPY4R_ENST00000395716.1_Missense_Mutation_p.S47F NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 p.S47F(1) ATCGTCACTTCCTACAGCATT 0.522000 22 231 0 0 0.014323 0 0 DPYD 1806 broad.mit.edu 37 1 97839184 97839184 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:97839184G>A ENST00000370192.3 - 16 2091 c.1991C>T c.(1990-1992)gCc>gTc p.A664V NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 664 Uracil binding (Potential). '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) TAACTCCAGGGCATCTGCTCC 0.433000 7 24 0 0 0.001984 0 0 ADAM7 8756 broad.mit.edu 37 8 24304749 24304749 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:24304749C>T ENST00000175238.6 + 3 290 c.207C>T c.(205-207)acC>acT p.T69T ADAM7_ENST00000441335.2_Silent_p.T69T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.T69T|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 69 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) ATAGAAAAACCTTAGTCCTTC 0.328000 15 25 0 0 0.020292 0 0 KRT32 3882 broad.mit.edu 37 17 39622158 39622158 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:39622158C>T ENST00000225899.3 - 3 678 c.575G>A c.(574-576)cGg>cAg p.R192Q NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 192 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CACCAGCTGCCGCATGGCCAG 0.587000 28 80 0 0 0.007291 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37188577 37188577 + RNA SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:37188577T>G ENST00000425901.2 + 0 2419 NR_033753.2 ACATATGTGATCTCTGTACCT 0.517000 5 229 0 0 0.001984 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868168 20868168 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:20868168A>T ENST00000381552.1 + 6 993 c.625A>T c.(625-627)Att>Ttt p.I209F SLCO1C1_ENST00000266509.2_Missense_Mutation_p.I209F|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I91F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I209F|SLCO1C1_ENST00000540354.1_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 209 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) GCCTTTGGGCATTGCCTACCT 0.428000 31 57 0 0 0.013726 0 0 PSMG2 56984 broad.mit.edu 37 18 12718630 12718630 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:12718630C>T ENST00000317615.6 + 4 1085 c.403C>T c.(403-405)Cgt>Tgt p.R135C RP11-973H7.2_ENST00000585331.1_RNA|PSMG2_ENST00000590217.1_Missense_Mutation_p.R135C NM_020232.4|NM_147163.1 NP_064617.2|NP_671692.1 Q969U7 PSMG2_HUMAN proteasome (prosome, macropain) assembly chaperone 2 135 proteasome assembly nucleus protein binding lung(1)|prostate(2)|skin(1) 4 TCTGCAGCTTCGTAGGTATGT 0.368000 6 57 0 0 0.001984 0 0 GGT7 2686 broad.mit.edu 37 20 33449295 33449295 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:33449295G>A ENST00000336431.5 - 4 672 c.628C>T c.(628-630)Cca>Tca p.P210S NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 210 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 AGGGCCCCTGGTGCGGACTCC 0.567000 20 47 0 0 0.008871 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913839 39913839 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:39913839G>A ENST00000425673.1 + 16 2383 c.2058G>A c.(2056-2058)ggG>ggA p.G686G PLEKHG2_ENST00000409794.3_Silent_p.G715G|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Silent_p.G656G Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 715 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGTTTTCTGGGAGCAATCCTG 0.592000 31 79 0 0 0.009535 0 0 MCM3 4172 broad.mit.edu 37 6 52144196 52144196 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:52144196G>A ENST00000596288.1 - 5 895 c.868C>T c.(868-870)Cct>Tct p.P290S MCM3_ENST00000419835.2_Missense_Mutation_p.P199S|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.P245S NM_002388.4 NP_002379.3 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 245 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) TTCTTTCCAGGAAGGCAACGG 0.522000 41 54 0 0 0.006999 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028306 21028306 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:21028306G>A ENST00000381545.3 + 9 1084 c.865G>A c.(865-867)Gaa>Aaa p.E289K SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E289K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.E289K|LST3_ENST00000540229.1_Missense_Mutation_p.E289K|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 289 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 p.E289*(1) 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) ACCACAAAAAGAAAGAAAAAT 0.328000 7 33 0 0 0.001984 0 0 POLD2 5425 broad.mit.edu 37 7 44156480 44156480 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:44156480G>A ENST00000406581.2 - 7 1365 c.716C>T c.(715-717)tCc>tTc p.S239F POLD2_ENST00000452185.1_Missense_Mutation_p.S239F|POLD2_ENST00000223361.3_Missense_Mutation_p.S239F NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 239 base-excision repair|DNA strand elongation involved in DNA replication|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 DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 GATAACCCGGGAGACGTGGGC 0.657000 14 22 0 0 0.003163 0 0 OR8D2 283160 broad.mit.edu 37 11 124189248 124189248 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:124189248G>A ENST00000357438.2 - 1 936 c.846C>T c.(844-846)atC>atT p.I282I NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TCAGCATGGGGATTATTGTGA 0.423000 9 15 0 0 0.008291 0 0 CDS1 1040 broad.mit.edu 37 4 85569815 85569815 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:85569815C>T ENST00000295887.5 + 13 1785 c.1362C>T c.(1360-1362)atC>atT p.I454I NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 454 TLKTHLIEKGILQPTLKV -> P (in Ref. 1; AAC50735). signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AGAAAGGAATCCTACAACCCA 0.388000 4 21 0 0 0.009096 0 0 SLC12A5 57468 broad.mit.edu 37 20 44664159 44664159 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:44664159A>G ENST00000454036.1 + 3 409 c.333A>G c.(331-333)aaA>aaG p.K111K SLC12A5_ENST00000372315.1_Silent_p.K88K|SLC12A5_ENST00000539566.1_Silent_p.K88K|SLC12A5_ENST00000243964.3_Silent_p.K88K NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 111 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) AGGGTGGAAAAAAGAAGCCGG 0.562000 14 46 0 0 0.016723 0 0 ST18 9705 broad.mit.edu 37 8 53084745 53084745 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:53084745G>A ENST00000276480.7 - 10 1359 c.676C>T c.(676-678)Cat>Tat p.H226Y NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 226 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) TCTTTTTTATGATCTGTTAAA 0.393000 22 37 0 0 0.012319 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233660 63233660 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:63233660G>A ENST00000540857.1 - 5 771 c.639C>T c.(637-639)atC>atT p.I213I HRASLS5_ENST00000539221.1_Silent_p.I223I|HRASLS5_ENST00000301790.4_Silent_p.I223I NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 223 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TGTACTGCACGATCTTGTTGA 0.517000 19 54 0 0 0.010504 0 0 TPX2 22974 broad.mit.edu 37 20 30381722 30381722 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:30381722C>T ENST00000340513.4 + 15 2217 c.1689C>T c.(1687-1689)atC>atT p.I563I TPX2_ENST00000300403.6_Silent_p.I527I Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 527 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AGCCCCAAATCCCAGAGGCAA 0.418000 46 128 0 0 0.014410 0 0 GRM2 2912 broad.mit.edu 37 3 51743182 51743182 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:51743182C>T ENST00000395052.3 + 2 417 c.183C>T c.(181-183)cgC>cgT p.R61R GRM2_ENST00000442933.2_Silent_p.R61R|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 61 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GCATCCAGCGCCTGGAGGCCA 0.637000 30 68 0 0 0.008361 0 0 PRDM1 639 broad.mit.edu 37 6 106547271 106547271 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:106547271G>A ENST00000369096.4 + 4 742 c.508G>A c.(508-510)Gag>Aag p.E170K PRDM1_ENST00000369091.2_Missense_Mutation_p.E134K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E36K NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 170 SET. negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CTCTCCCCGGGAGCAAAACCT 0.498000 """D, N, Mis, F, S""" DLBCL 16 27 0 0 0.004007 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130342957 130342957 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:130342957C>T ENST00000299164.2 + 8 2094 c.2094C>T c.(2092-2094)ttC>ttT p.F698F NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 698 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCTACAATTTCGTGGTGGCCA 0.582000 25 44 0 0 0.005443 0 0 POLD3 10714 broad.mit.edu 37 11 74329644 74329644 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:74329644C>T ENST00000263681.2 + 6 584 c.455C>T c.(454-456)tCc>tTc p.S152F POLD3_ENST00000527458.1_Missense_Mutation_p.S113F|POLD3_ENST00000532497.1_Missense_Mutation_p.S46F NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 152 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|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 delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) TCTTCGTCTTCCAAAAAGTTT 0.463000 29 75 0 0 0.007291 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136877 40136877 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:40136877C>T ENST00000278198.2 - 2 2929 c.966G>A c.(964-966)tcG>tcA p.S322S LRRC4C_ENST00000528697.1_Silent_p.S322S|LRRC4C_ENST00000527150.1_Silent_p.S322S|LRRC4C_ENST00000530763.1_Silent_p.S322S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 322 LRRCT. regulation of axonogenesis integral to membrane protein binding p.S322S(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AAGCTGTGTTCGAGGGGGCCA 0.493000 10 25 0 0 0.006214 0 0 PLCH2 9651 broad.mit.edu 37 1 2418730 2418730 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:2418730C>T ENST00000449969.1 + 7 1109 c.948C>T c.(946-948)acC>acT p.T316T PLCH2_ENST00000378486.3_Silent_p.T343T|PLCH2_ENST00000378488.3_Silent_p.T343T|PLCH2_ENST00000419816.2_Silent_p.T343T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 343 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) CCCACAACACCTACCTCGTGG 0.612000 8 16 0 0 0.008291 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676527 65676527 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:65676527G>A ENST00000352385.2 - 20 3782 c.3573C>T c.(3571-3573)gcC>gcT p.A1191A IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1191 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 CTGGCCCGGGGGCTGCCAGCT 0.667000 10 23 0 0 0.006214 0 0 CCM2 83605 broad.mit.edu 37 7 45104202 45104202 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:45104202C>T ENST00000475551.1 + 4 1171 c.411C>T c.(409-411)tcC>tcT p.S137S CCM2_ENST00000258781.6_Silent_p.S143S|CCM2_ENST00000544363.1_Silent_p.S143S|CCM2_ENST00000474617.1_Silent_p.S137S|CCM2_ENST00000541586.1_Silent_p.S85S|CCM2_ENST00000381112.3_Silent_p.S164S|CCM2_ENST00000461377.1_3'UTR Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 143 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CCGCCGTCTCCTATGTTCGGG 0.572000 8 30 0 0 0.006214 0 0 FAT2 2196 broad.mit.edu 37 5 150947511 150947511 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:150947511C>T ENST00000261800.5 - 1 994 c.982G>A c.(982-984)Ggg>Agg p.G328R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 328 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) AGGTTGAACCCATGAAGGTAC 0.502000 85 129 0 0 0.014410 0 0 SMU1 55234 broad.mit.edu 37 9 33056197 33056197 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:33056197G>A ENST00000397149.3 - 9 1086 c.1036C>T c.(1036-1038)Cgt>Tgt p.R346C SMU1_ENST00000536631.1_Missense_Mutation_p.R185C NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 346 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) GAATGGCCACGAAATTCCTTC 0.338000 10 20 0 0 0.008291 0 0 H6PD 9563 broad.mit.edu 37 1 9324817 9324817 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:9324817C>T ENST00000377403.2 + 5 2567 c.2265C>T c.(2263-2265)acC>acT p.T755T H6PD_ENST00000602477.1_Silent_p.T766T NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 755 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GTGAGATCACCACGCTGGTGA 0.642000 8 30 0 0 0.010729 0 0 STPG2 285555 broad.mit.edu 37 4 98865158 98865158 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:98865158C>T ENST00000295268.3 - 8 1023 c.933_splice c.e8-1 p.E312_splice NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TGCCAAAATTCCTGTTGAAAG 0.323000 8 35 0 0 0.004482 0 0 KCNH4 23415 broad.mit.edu 37 17 40328259 40328259 + Silent SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:40328259C>A ENST00000264661.3 - 5 974 c.642G>T c.(640-642)ggG>ggT p.G214G KCNH4_ENST00000607371.1_Silent_p.G214G NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 214 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGCAGCGAGACCCCCCCACGG 0.607000 30 153 1.74807e-11 1.83893e-11 0.010818 1 0 SLC27A5 10998 broad.mit.edu 37 19 59022257 59022257 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:59022257C>T ENST00000263093.2 - 2 838 c.729G>A c.(727-729)caG>caA p.Q243Q SLC27A5_ENST00000601355.1_Silent_p.Q159Q NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 243 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) TGTTCTCAGCCTGCAGCTTGG 0.637000 21 41 0 0 0.010504 0 0 KMT2D 8085 broad.mit.edu 37 12 49444009 49444009 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:49444009T>G ENST00000301067.7 - 11 3361 c.3362A>C c.(3361-3363)gAc>gCc p.D1121A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGGGCTGTGTCTTCCCCTAG 0.632000 5 17 0 0 0.014758 0 0 CCDC38 120935 broad.mit.edu 37 12 96266060 96266060 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:96266060C>T ENST00000344280.3 - 14 2014 c.1457G>A c.(1456-1458)aGg>aAg p.R486K SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 486 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTGTTTCATCCTCTCAATTGC 0.408000 41 134 0 0 0.014410 0 0 CFB 629 broad.mit.edu 37 6 31914340 31914340 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:31914340G>A ENST00000456570.1 + 14 1816 c.1761G>A c.(1759-1761)ctG>ctA p.L587L CFB_ENST00000556679.1_Silent_p.L587L|CFB_ENST00000477310.1_Intron|CFB_ENST00000425368.2_Silent_p.L85L P00751 CFAB_HUMAN complement factor B 85 Peptidase S1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GGAGCACCCTGAAGACTCAAG 0.582000 87 345 0 0 0.014410 0 0 C1orf87 127795 broad.mit.edu 37 1 60466815 60466815 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:60466815C>G ENST00000371201.3 - 10 1313 c.1206G>C c.(1204-1206)aaG>aaC p.K402N C1orf87_ENST00000450089.2_Missense_Mutation_p.K173N|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.K36N NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 402 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CAGGGGCTTTCTTTTCATTCT 0.428000 3 7 0 0 0.004672 0 0 MSH6 2956 broad.mit.edu 37 2 48027726 48027726 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:48027726G>T ENST00000234420.4 + 4 2756 c.2604G>T c.(2602-2604)atG>atT p.M868I MSH6_ENST00000540021.1_Missense_Mutation_p.M738I|MSH6_ENST00000538136.1_Missense_Mutation_p.M566I|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 868 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCAAAGTAATGTGTAAAATTA 0.373000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 13 30 4.36969e-10 4.5826e-10 0.016723 1 0 OR5B3 441608 broad.mit.edu 37 11 58170217 58170217 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:58170217G>A ENST00000309403.2 - 1 665 c.666C>T c.(664-666)acC>acT p.T222T NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTTTAGGATGGTGATAAAAA 0.383000 5 7 0 0 0.014758 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138429869 138429869 + Splice_Site SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:138429869T>A ENST00000310018.2 - 14 1759 c.1478_splice c.e14+1 p.N493_splice ATP6V0A4_ENST00000393054.1_Splice_Site_p.N493_splice|ATP6V0A4_ENST00000353492.4_Splice_Site_p.N493_splice NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 493 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCAACTCACTTCCATGTGCCG 0.498000 44 53 0 0 0.014410 0 0 PAIP1 10605 broad.mit.edu 37 5 43536967 43536967 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:43536967G>A ENST00000306846.3 - 6 1158 c.926C>T c.(925-927)tCt>tTt p.S309F PAIP1_ENST00000514514.1_Missense_Mutation_p.S230F|PAIP1_ENST00000436644.2_Missense_Mutation_p.S230F|PAIP1_ENST00000338972.4_Missense_Mutation_p.S197F NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 309 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) CATAGGATTAGAAAACAGGGC 0.323000 10 49 0 0 0.008291 0 0 E4F1 1877 broad.mit.edu 37 16 2284180 2284180 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:2284180C>T ENST00000301727.4 + 10 1432 c.1384C>T c.(1384-1386)Ccg>Tcg p.P462S E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.P462S NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 462 Interaction with BMI1.|Mediates interaction with CDKN2A. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AGGGCCGAGGCCGTTCGCCTG 0.701000 12 25 0 0 0.013537 0 0 TRIM23 373 broad.mit.edu 37 5 64906724 64906724 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:64906724G>A ENST00000231524.9 - 5 1163 c.792C>T c.(790-792)atC>atT p.I264I TRIM23_ENST00000274327.7_Silent_p.I264I|TRIM23_ENST00000381018.3_Silent_p.I264I NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 264 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) CATCTTCCACGATTTGTTCTC 0.363000 20 25 0 0 0.018920 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617118 77617118 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:77617118C>T ENST00000521891.2 + 2 1243 c.795C>T c.(793-795)ttC>ttT p.F265F ZFHX4_ENST00000518282.1_Silent_p.F265F|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.F265F|ZFHX4_ENST00000455469.2_Silent_p.F265F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 265 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) TGTCCAAATTCGATGGTTGTG 0.423000 HNSCC(33;0.089) 36 52 0 0 0.013726 0 0 PRB3 5544 broad.mit.edu 37 12 11421008 11421008 + RNA SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:11421008C>G ENST00000381842.3 - 0 212 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_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) GGGGGTCGTCCTTCTGGCTTT 0.617000 13 222 0 0 0.004007 0 0 NUP160 23279 broad.mit.edu 37 11 47837085 47837085 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:47837085G>A ENST00000378460.2 - 13 1678 c.1632C>T c.(1630-1632)caC>caT p.H544H NUP160_ENST00000531016.1_5'UTR|NUP160_ENST00000530326.1_Silent_p.H430H|NUP160_ENST00000528501.1_Silent_p.H108H|NUP160_ENST00000528071.1_Silent_p.H430H NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 544 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GGGCAAGAGGGTGAGAGAGGG 0.428000 30 77 0 0 0.013726 0 0 TDRD9 122402 broad.mit.edu 37 14 104460697 104460697 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:104460697A>G ENST00000409874.4 + 10 1257 c.1209A>G c.(1207-1209)gaA>gaG p.E403E TDRD9_ENST00000339063.5_Silent_p.E403E NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 403 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATATGCATGAACTTCTCACAA 0.333000 43 156 0 0 0.014410 0 0 HFM1 164045 broad.mit.edu 37 1 91850744 91850744 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:91850744G>A ENST00000370425.3 - 6 900 c.802_splice c.e6+1 p.P268_splice HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 268 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TAAAGGATACGAATTTCTGTG 0.249000 5 5 0 0 0.003080 0 0 ZNF532 55205 broad.mit.edu 37 18 56586876 56586876 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:56586876C>T ENST00000336078.4 + 4 2133 c.1357C>T c.(1357-1359)Ctc>Ttc p.L453F ZNF532_ENST00000589288.1_Missense_Mutation_p.L453F|ZNF532_ENST00000591808.1_Missense_Mutation_p.L453F|ZNF532_ENST00000591230.1_Missense_Mutation_p.L453F|ZNF532_ENST00000591083.1_Missense_Mutation_p.L453F NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 TACTGCTTTCCTCCCAGTGTC 0.557000 9 45 0 0 0.008291 0 0 CXCL8 3576 broad.mit.edu 37 4 74607292 74607292 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:74607292G>A ENST00000307407.3 + 2 251 c.98G>A c.(97-99)aGa>aAa p.R33K IL8_ENST00000401931.1_Missense_Mutation_p.R33K NM_000584.3 NP_000575.1 P10145 IL8_HUMAN interleukin 8 33 angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication extracellular space|intracellular chemokine activity|interleukin-8 receptor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 6 Breast(15;0.00102) all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) LUSC - Lung squamous cell carcinoma(721;0.008) Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744) AAAGAACTTAGATGTCAGTGC 0.428000 4 16 0 0 0.009096 0 0 KIF1B 23095 broad.mit.edu 37 1 10434391 10434391 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:10434391C>T ENST00000377086.1 + 46 5166 c.4964C>T c.(4963-4965)tCc>tTc p.S1655F KIF1B_ENST00000377081.1_Missense_Mutation_p.S1655F|KIF1B_ENST00000263934.6_Missense_Mutation_p.S1609F O60333 KIF1B_HUMAN kinesin family member 1B 1655 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GAAGCCAATTCCCGGGCCTCT 0.433000 67 237 0 0 0.014410 0 0 EML1 2009 broad.mit.edu 37 14 100374016 100374016 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:100374016C>T ENST00000262233.6 + 10 1189 c.1050C>T c.(1048-1050)gaC>gaT p.D350D EML1_ENST00000327921.9_Silent_p.D338D|EML1_ENST00000334192.4_Silent_p.D369D NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 350 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) ACTCCAACGACCATGTGCTCT 0.423000 22 55 0 0 0.006320 0 0 CLEC5A 23601 broad.mit.edu 37 7 141629928 141629928 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:141629928C>T ENST00000546910.1 - 7 739 c.543G>A c.(541-543)agG>agA p.R181R MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.R158R|CLEC5A_ENST00000439991.1_Silent_p.R77R NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 181 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TCTCACAGATCCTGCGGTAGC 0.413000 9 34 0 0 0.006214 0 0 IQCJ 654502 broad.mit.edu 37 3 158983184 158983184 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:158983184C>T ENST00000482126.1 + 4 496 c.391C>T c.(391-393)Ctc>Ttc p.L131F IQCJ_ENST00000451172.1_Missense_Mutation_p.L158F|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron NM_001197100.1 NP_001184029.1 IQ motif containing J cervix(1)|endometrium(2)|large_intestine(2)|lung(10) 15 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TTTTCTCACCCTCCAGTGAAT 0.473000 5 23 0 0 0.014758 0 0 FER1L6 654463 broad.mit.edu 37 8 124978497 124978497 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:124978497G>A ENST00000522917.1 + 5 557 c.351G>A c.(349-351)gtG>gtA p.V117V FER1L6_ENST00000399018.1_Silent_p.V117V NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 117 C2 1. 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) AAAGCACAGTGAAGGAAGGAA 0.478000 23 35 0 0 0.021523 0 0 CTSL3P 392360 broad.mit.edu 37 9 90401769 90401769 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:90401769G>A ENST00000354530.2 + 0 627 NR_027917.1 ATGACATGAGGAATCATCTGG 0.493000 8 24 0 0 0.006214 0 0 CYP4B1 1580 broad.mit.edu 37 1 47264785 47264785 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:47264785C>T ENST00000271153.4 + 1 68 c.32C>T c.(31-33)tCc>tTc p.S11F CYP4B1_ENST00000371923.4_Missense_Mutation_p.S11F|CYP4B1_ENST00000371919.4_Missense_Mutation_p.S11F|CYP4B1_ENST00000546128.1_Intron P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 11 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CTGAGCTTCTCCTCCTTGGGC 0.567000 6 11 0 0 0.001168 0 0 EIF4G2 1982 broad.mit.edu 37 11 10820827 10820827 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:10820827G>A ENST00000526148.1 - 20 2979 c.2469C>T c.(2467-2469)caC>caT p.H823H EIF4G2_ENST00000525681.1_Silent_p.H823H|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.H823H|EIF4G2_ENST00000396525.2_Silent_p.H785H NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 823 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTAGATCAACGTGATCATGAA 0.433000 9 46 0 0 0.008291 0 0 CLVS2 134829 broad.mit.edu 37 6 123377146 123377146 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:123377146G>A ENST00000275162.4 + 5 2206 c.871G>A c.(871-873)Gaa>Aaa p.E291K CLVS2_ENST00000368438.1_Missense_Mutation_p.E145K NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 291 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 AGTAGAGAAGGAACTCTCCCC 0.522000 3 7 0 0 0.009096 0 0 CORO1C 23603 broad.mit.edu 37 12 109046188 109046188 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:109046188G>A ENST00000261401.3 - 8 1033 c.861C>T c.(859-861)gaC>gaT p.D287D CORO1C_ENST00000421578.2_Silent_p.D182D|CORO1C_ENST00000420959.2_Silent_p.D340D|CORO1C_ENST00000549772.1_Silent_p.D293D|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Silent_p.D287D NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C 287 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 GAATACTGCTGTCACCCTGTA 0.478000 33 71 0 0 0.009718 0 0 FSCN3 29999 broad.mit.edu 37 7 127238524 127238524 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:127238524C>T ENST00000265825.5 + 4 1215 c.996C>T c.(994-996)ccC>ccT p.P332P FSCN3_ENST00000420086.2_Silent_p.P198P NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 332 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ATGGGCACCCCCTGGAGTCTG 0.557000 44 86 0 0 0.011902 0 0 XIST 7503 broad.mit.edu 37 X 73062381 73062381 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:73062381C>T ENST00000429829.1 - 0 10207 NR_001564.2 GCCTGCTTTTCATAGTCAACA 0.393000 8 7 0 0 0.003080 0 0 BCL9 607 broad.mit.edu 37 1 147090901 147090901 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:147090901G>A ENST00000234739.3 + 8 1680 c.940G>A c.(940-942)Gtg>Atg p.V314M NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 314 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) CAATAGGGCAGTGACCCCTGT 0.582000 T """IGH@, IGL@""" B-ALL 19 106 0 0 0.008871 0 0 DNAH1 25981 broad.mit.edu 37 3 52422243 52422243 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:52422243C>T ENST00000420323.2 + 57 9325 c.9064C>T c.(9064-9066)Cag>Tag p.Q3022* NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3022 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGAAGAGTTCCAGCCAGCCAC 0.567000 3 16 0 0 0.009096 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50418224 50418224 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:50418224C>T ENST00000435965.1 - 8 970 c.797G>A c.(796-798)cGa>cAa p.R266Q CACNA2D2_ENST00000479441.1_Missense_Mutation_p.R266Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.R266Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.R266Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.R266Q|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.R266Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.R197Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.R266Q Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 266 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CTTGGGGGCTCGCCACGGGGT 0.647000 3 5 0 0 0.009096 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48918327 48918327 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:48918327G>A ENST00000311378.4 + 2 2206 c.1678G>A c.(1678-1680)Gtc>Atc p.V560I WFIKKN2_ENST00000426127.1_Missense_Mutation_p.V467I|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 560 NTR. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GCTTCGTGAGGTCATGCACAA 0.627000 37 56 0 0 0.013114 0 0 SRF 6722 broad.mit.edu 37 6 43146124 43146124 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:43146124C>T ENST00000265354.4 + 5 1613 c.1255C>T c.(1255-1257)Ccc>Tcc p.P419S SRF_ENST00000457278.2_Missense_Mutation_p.P215S NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 419 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GATGTATGCCCCCACCTCGGG 0.627000 14 71 0 0 0.003163 0 0 OR13J1 392309 broad.mit.edu 37 9 35869662 35869662 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:35869662G>A ENST00000377981.2 - 1 799 c.737C>T c.(736-738)gCt>gTt p.A246V NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) CAGCACTACAGCCAGGTGTGC 0.552000 12 37 0 0 0.010729 0 0 AKR1E2 83592 broad.mit.edu 37 10 4879766 4879766 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:4879766C>T ENST00000298375.7 + 5 646 c.575C>T c.(574-576)aCc>aTc p.T192I AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.T192I|AKR1E2_ENST00000532248.1_Missense_Mutation_p.T192I NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 192 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 AAGCCACTAACCAACCAGGTA 0.522000 7 31 0 0 0.001984 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726477 168726477 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:168726477G>A ENST00000305861.1 + 2 1279 c.928G>A c.(928-930)Gaa>Aaa p.E310K B3GALT1_ENST00000392690.2_Missense_Mutation_p.E310K|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 310 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 CTCTCCAGAAGAAATGCACAG 0.378000 6 36 0 0 0.001168 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870935 51870935 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:51870935C>T ENST00000371497.5 + 2 1825 c.938C>T c.(937-939)tCc>tTc p.S313F TSHZ2_ENST00000329613.6_Missense_Mutation_p.S310F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S310F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 313 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCAACCATTTCCTCGAAAATG 0.453000 24 71 0 0 0.005443 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136712 40136712 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:40136712G>A ENST00000278198.2 - 2 3094 c.1131C>T c.(1129-1131)gcC>gcT p.A377A LRRC4C_ENST00000528697.1_Silent_p.A377A|LRRC4C_ENST00000527150.1_Silent_p.A377A|LRRC4C_ENST00000530763.1_Silent_p.A377A Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 377 Ig-like C2-type. 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) GGGATGTGGAGGCCCGACATT 0.512000 26 45 0 0 0.021523 0 0 ZFAT 57623 broad.mit.edu 37 8 135614003 135614003 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:135614003G>A ENST00000520727.1 - 7 2222 c.1923C>T c.(1921-1923)ccC>ccT p.P641P ZFAT_ENST00000523399.1_Silent_p.P591P|ZFAT_ENST00000377838.3_Silent_p.P653P|ZFAT_ENST00000520214.1_Silent_p.P641P|ZFAT_ENST00000520356.1_Silent_p.P641P|ZFAT_ENST00000429442.2_Silent_p.P641P NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 653 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTCCCCTAGGGGGCTCTGGG 0.592000 47 62 0 0 0.014410 0 0 HK3 3101 broad.mit.edu 37 5 176314516 176314516 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:176314516G>A ENST00000292432.5 - 11 1627 c.1536C>T c.(1534-1536)ctC>ctT p.L512L NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 512 Catalytic. LR -> SE (in Ref. 4; AAC50422). 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) CCTCCCCTCGGAGCCCCTTGG 0.657000 15 46 0 0 0.020292 0 0 CIAO1 9391 broad.mit.edu 37 2 96934294 96934294 + Missense_Mutation SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:96934294G>C ENST00000488633.1 + 5 808 c.589G>C c.(589-591)Gtg>Ctg p.V197L NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 197 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 TGAATCCACTGTGTGGAGCTT 0.552000 15 42 0 0 0.003163 0 0 MASP2 10747 broad.mit.edu 37 1 11090804 11090804 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:11090804C>T ENST00000400897.3 - 9 1238 c.e9+1 NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AATTTGCATACCATCATTCAC 0.448000 5 30 0 0 0.001984 0 0 IGHG2 3501 broad.mit.edu 37 14 106110952 106110952 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:106110952G>A ENST00000390545.2 - 0 175 GAGTCCTGAGGACTGTAGGAC 0.622000 18 40 0 0 0.006122 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305976 39305976 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:39305976C>T ENST00000343246.4 - 1 78 c.44G>A c.(43-45)tGt>tAt p.C15Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 15 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CTCCAGGCCACAGCTCTGCTC 0.602000 16 42 0 0 0.007413 0 0 SAMD3 154075 broad.mit.edu 37 6 130505278 130505278 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:130505278G>A ENST00000532763.1 - 6 747 c.618C>T c.(616-618)caC>caT p.H206H SAMD3_ENST00000324172.6_Silent_p.H208H|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000368134.2_Silent_p.H208H|SAMD3_ENST00000439090.2_Silent_p.H208H|SAMD3_ENST00000437477.2_Silent_p.H208H|SAMD3_ENST00000457563.2_Silent_p.H232H Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 208 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CCAGGAAAGGGTGGGCCTGCA 0.483000 13 29 0 0 0.004007 0 0 TRIM58 25893 broad.mit.edu 37 1 248039784 248039784 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:248039784A>T ENST00000366481.3 + 6 1502 c.1454A>T c.(1453-1455)cAt>cTt p.H485L OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 485 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGAGATGATCATCTCTAAAAT 0.438000 9 38 0 0 0.004482 0 0 ZNF518A 9849 broad.mit.edu 37 10 97919527 97919527 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:97919527C>T ENST00000534948.1 + 0 4305 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AATTTTTAACCCTGTTTTAAA 0.358000 13 56 0 0 0.016723 0 0 DSG3 1830 broad.mit.edu 37 18 29049074 29049074 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:29049074C>T ENST00000257189.4 + 12 1742 c.1659C>T c.(1657-1659)gcC>gcT p.A553A NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 553 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) TCCTCAGAGCCCAGGAACAGA 0.463000 45 109 0 0 0.014410 0 0 LOC440040 440040 broad.mit.edu 37 11 49598415 49598415 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:49598415G>A ENST00000527477.1 + 0 1019 TGGACATAGTGAAGAGGTACA 0.428000 9 20 0 0 0.006214 0 0 CDK11B 984 broad.mit.edu 37 1 1573193 1573193 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:1573193G>A ENST00000407249.3 - 14 1403 c.1404C>T c.(1402-1404)ttC>ttT p.F468F CDK11B_ENST00000340677.5_Silent_p.F455F|CDK11B_ENST00000341832.6_Silent_p.F421F|CDK11B_ENST00000317673.7_Silent_p.F466F P21127 CD11B_HUMAN cyclin-dependent kinase 11B 478 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 ACGTGATCGGGAAGCCCTCCT 0.557000 57 127 0 0 0.014410 0 0 FNDC9 408263 broad.mit.edu 37 5 156770374 156770374 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:156770374C>T ENST00000312349.4 - 2 358 c.171G>A c.(169-171)acG>acA p.T57T CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 57 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CGGAGCTGATCGTTCGAGGCA 0.522000 69 87 0 0 0.014410 0 0 CTNNA3 29119 broad.mit.edu 37 10 68979533 68979533 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:68979533A>G ENST00000433211.1 - 6 849 c.675T>C c.(673-675)tgT>tgC p.C225C CTNNA3_ENST00000545309.1_Silent_p.C225C|CTNNA3_ENST00000373744.4_Silent_p.C225C NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 225 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AATGCTCCAAACAAGCTGAAC 0.423000 17 31 0 0 0.008871 0 0 TMC2 117532 broad.mit.edu 37 20 2604977 2604977 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:2604977C>T ENST00000358864.1 + 17 2256 c.2241C>T c.(2239-2241)ttC>ttT p.F747F NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 747 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCCAACCTTCCTGGGCAAGA 0.498000 28 61 0 0 0.005443 0 0 CD22 933 broad.mit.edu 37 19 35827096 35827096 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:35827096G>A ENST00000085219.5 + 4 636 c.570G>A c.(568-570)tcG>tcA p.S190S CD22_ENST00000594250.1_Silent_p.S190S|CD22_ENST00000536635.2_Silent_p.S190S|CD22_ENST00000341773.6_Silent_p.S190S|CD22_ENST00000419549.2_Silent_p.S18S|CD22_ENST00000270311.6_Silent_p.S70S|CD22_ENST00000544992.2_Silent_p.S190S NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 190 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTGTCACCTCGACCTCCTTGA 0.547000 25 60 0 0 0.004656 0 0 TFEB 7942 broad.mit.edu 37 6 41658525 41658525 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:41658525G>A ENST00000394283.1 - 3 1570 c.344C>T c.(343-345)cCg>cTg p.P115L TFEB_ENST00000230323.4_Missense_Mutation_p.P115L|TFEB_ENST00000358871.2_Missense_Mutation_p.P129L|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000403298.4_Missense_Mutation_p.P115L|TFEB_ENST00000373033.1_Missense_Mutation_p.P115L P19484 TFEB_HUMAN transcription factor EB 115 GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TGGGGGTTTCGGAGAGCCCTG 0.632000 T ALPHA renal (childhood epithelioid) 7 36 0 0 0.006214 0 0 ANKRD10 55608 broad.mit.edu 37 13 111558407 111558407 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:111558407G>A ENST00000375758.5 - 3 562 c.428C>T c.(427-429)gCc>gTc p.A143V ANKRD10_ENST00000310847.4_Missense_Mutation_p.A143V|ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000267339.2_Missense_Mutation_p.A143V Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 143 central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) CGCCACAAGGGCACTGATGCA 0.433000 3 9 0 0 0.004672 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92705993 92705993 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:92705993C>T ENST00000318445.6 + 10 1975 c.1761C>T c.(1759-1761)atC>atT p.I587I SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Silent_p.I587I NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 587 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CAGGCTTCATCCCTCCACCCC 0.562000 19 56 0 0 0.007413 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18014191 18014191 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:18014191G>A ENST00000361221.3 + 27 3292 c.3133G>A c.(3133-3135)Gag>Aag p.E1045K ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E818K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E1006K|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E1040K|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E748K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E1006K|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1045 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TGAGACCCTGGAGCATCTGCA 0.642000 5 32 0 0 0.014758 0 0 MUC16 94025 broad.mit.edu 37 19 9062258 9062258 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:9062258G>A ENST00000397910.4 - 3 25391 c.25188C>T c.(25186-25188)tcC>tcT p.S8396S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8398 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 AGTCAGAAGTGGATATGGAAA 0.483000 27 22 0 0 0.004656 0 0 ATP1A3 478 broad.mit.edu 37 19 42492128 42492128 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:42492128C>T ENST00000545399.1 - 4 509 c.356G>A c.(355-357)gGt>gAt p.G119D ATP1A3_ENST00000602133.1_Missense_Mutation_p.G76D|ATP1A3_ENST00000302102.5_Missense_Mutation_p.G106D|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G117D NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 106 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CGCCTGGATACCGTAGGCCAG 0.622000 21 108 0 0 0.018920 0 0 GPR133 283383 broad.mit.edu 37 12 131622767 131622767 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:131622767C>T ENST00000261654.5 + 24 3081 c.2522C>T c.(2521-2523)tCg>tTg p.S841L GPR133_ENST00000376682.4_Missense_Mutation_p.S527L|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.S360L|GPR133_ENST00000535015.1_Missense_Mutation_p.S873L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 841 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCCTTCCACTCGGACCTCGTG 0.622000 16 25 0 0 0.006122 0 0 RHO 6010 broad.mit.edu 37 3 129247891 129247891 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:129247891C>T ENST00000296271.3 + 1 409 c.315C>T c.(313-315)ttC>ttT p.F105F NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 105 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) ACTTCGTCTTCGGGCCCACAG 0.597000 35 87 0 0 0.021022 0 0 STMN2 11075 broad.mit.edu 37 8 80553665 80553665 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:80553665G>A ENST00000220876.7 + 3 550 c.168G>A c.(166-168)ctG>ctA p.L56L STMN2_ENST00000518491.1_Silent_p.L45L|STMN2_ENST00000518111.1_Silent_p.L56L NM_001199214.1|NM_007029.3 NP_001186143.1|NP_008960.2 Q93045 STMN2_HUMAN stathmin-like 2 56 Regulatory/phosphorylation domain (Potential). intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) CTTTTGAGCTGATCTTGAAGC 0.453000 15 53 0 0 0.003163 0 0 OR1N2 138882 broad.mit.edu 37 9 125316346 125316346 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:125316346C>T ENST00000373688.2 + 1 956 c.898C>T c.(898-900)Ccc>Tcc p.P300S NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GGTGATTATTCCCACGCTAAA 0.398000 12 35 0 0 0.016723 0 0 OR2A25 392138 broad.mit.edu 37 7 143771818 143771818 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:143771818G>A ENST00000408898.2 + 1 544 c.506G>A c.(505-507)gGa>gAa p.G169E NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 169 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) TCCTTCTGTGGACCCCAGAAA 0.448000 69 127 0 0 0.014410 0 0 CD2 914 broad.mit.edu 37 1 117303229 117303229 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:117303229C>T ENST00000369478.3 + 3 696 c.588C>T c.(586-588)tcC>tcT p.S196S NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 196 Ig-like C2-type. 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) GCAAGGAATCCAGTGTCGAGC 0.542000 8 22 0 0 0.003080 0 0 CERCAM 51148 broad.mit.edu 37 9 131196510 131196510 + Splice_Site SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:131196510T>C ENST00000372842.1 + 11 4241 c.e11+2 CERCAM_ENST00000372838.4_Splice_Site Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GGACCTGATGTAGGCAGCCTG 0.637000 12 37 0 0 0.016723 0 0 SLC43A1 8501 broad.mit.edu 37 11 57263631 57263631 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:57263631A>G ENST00000278426.3 - 7 920 c.565T>C c.(565-567)Tac>Cac p.Y189H SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.Y189H NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 189 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CCGGCATCGTAGATCAGCTGT 0.597000 12 27 0 0 0.020292 0 0 HERC1 8925 broad.mit.edu 37 15 64017698 64017698 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:64017698T>C ENST00000443617.2 - 18 3448 c.3361A>G c.(3361-3363)Att>Gtt p.I1121V NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1121 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCAGGATCAATTAGTTCTGGC 0.423000 27 58 0 0 0.007291 0 0 PRR22 163154 broad.mit.edu 37 19 5783676 5783676 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:5783676G>A ENST00000419421.2 - 3 686 c.582C>T c.(580-582)ccC>ccT p.P194P NM_001134316.1 NP_001127788.1 Q8IZ63 PRR22_HUMAN proline rich 22 192 Pro-rich. endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 TGAGTACAGGGGGCGGCTTGT 0.721000 10 5 0 0 0.008291 0 0 OR51G2 81282 broad.mit.edu 37 11 4936029 4936029 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:4936029G>A ENST00000322013.3 - 1 893 c.865C>T c.(865-867)Cct>Tct p.P289S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 289 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) ATCACAGGAGGAAAGAGAAGA 0.493000 4 12 0 0 0.009096 0 0 IGHA2 3494 broad.mit.edu 37 14 106053529 106053529 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:106053529C>T ENST00000390539.2 - 0 767 GGGGCAGCTCCTGTGACCCCT 0.662000 6 26 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179664595 179664595 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179664595G>A ENST00000589042.1 - 5 850 c.626C>T c.(625-627)tCg>tTg p.S209L TTN_ENST00000591111.1_Missense_Mutation_p.S209L|TTN_ENST00000360870.5_Missense_Mutation_p.S209L|TTN_ENST00000359218.5_Missense_Mutation_p.S209L|TTN_ENST00000342992.6_Missense_Mutation_p.S209L|TTN_ENST00000342175.6_Missense_Mutation_p.S209L|TTN_ENST00000460472.2_Missense_Mutation_p.S209L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 209 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S209L(5) 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) CTGAGCAGTCGAAACAATTGT 0.418000 20 22 0 0 0.021523 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027718 150027718 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:150027718C>T ENST00000343855.4 + 1 781 c.225C>T c.(223-225)acC>acT p.T75T LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000493307.1_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like TGCTGGCCACCTTGCTGGACC 0.612000 31 91 0 0 0.007291 0 0 TNC 3371 broad.mit.edu 37 9 117800600 117800600 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:117800600T>C ENST00000350763.4 - 20 5863 c.5452A>G c.(5452-5454)Agg>Ggg p.R1818G TNC_ENST00000423613.2_Missense_Mutation_p.R1545G|TNC_ENST00000542877.1_Missense_Mutation_p.R1455G|TNC_ENST00000537320.1_Missense_Mutation_p.R1181G|TNC_ENST00000535648.1_Missense_Mutation_p.R1363G|TNC_ENST00000341037.4_Missense_Mutation_p.R1636G|TNC_ENST00000346706.3_Missense_Mutation_p.R1272G|TNC_ENST00000345230.3_Missense_Mutation_p.R1181G|TNC_ENST00000340094.3_Missense_Mutation_p.R1454G NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1818 Fibronectin type-III 14. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GGCTGCCACCTGGCCAAGGCT 0.532000 13 47 0 0 0.020292 0 0 MARK3 4140 broad.mit.edu 37 14 103969316 103969316 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:103969316C>T ENST00000429436.2 + 18 2524 c.2014C>T c.(2014-2016)Ccc>Tcc p.P672S MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.P695S|MARK3_ENST00000303622.9_Missense_Mutation_p.P648S|MARK3_ENST00000216288.7_Missense_Mutation_p.P632S|MARK3_ENST00000553942.1_Missense_Mutation_p.P663S|MARK3_ENST00000440884.3_Missense_Mutation_p.P578S|MARK3_ENST00000416682.2_Missense_Mutation_p.P671S NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 672 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TTCAATGGATCCCGGGGACAT 0.507000 13 34 0 0 0.016723 0 0 FAM83E 54854 broad.mit.edu 37 19 49106801 49106801 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:49106801C>T ENST00000263266.3 - 4 1315 c.1126G>A c.(1126-1128)Gac>Aac p.D376N NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 376 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGGCTTAGGTCCCACATGGAG 0.687000 11 24 0 0 0.010729 0 0 KDR 3791 broad.mit.edu 37 4 55955863 55955863 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:55955863G>A ENST00000263923.4 - 24 3594 c.3299C>T c.(3298-3300)tCc>tTc p.S1100F 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) 1100 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 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) CTTACCTAAGGAAAATATTTC 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 25 69 0 0 0.007291 0 0 TARS2 80222 broad.mit.edu 37 1 150469026 150469026 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:150469026C>T ENST00000369064.3 + 8 877 c.843C>T c.(841-843)ttC>ttT p.F281F TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000606933.1_Intron NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 281 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) GGATTTCCTTCCCCACAACAG 0.532000 38 170 0 0 0.021022 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20495407 20495407 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:20495407G>A ENST00000555186.1 + 0 610 NR_038836.1 TTCTGTGTGAGGAAAATGAAT 0.393000 11 102 0 0 0.013537 0 0 TLN1 7094 broad.mit.edu 37 9 35700339 35700339 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:35700339G>A ENST00000314888.9 - 49 6862 c.6509C>T c.(6508-6510)tCt>tTt p.S2170F TLN1_ENST00000540444.1_Missense_Mutation_p.S2058F NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 2170 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTCTGGGGTAGAGGTCTTGGC 0.527000 15 72 0 0 0.004007 0 0 CYP17A1 1586 broad.mit.edu 37 10 104596869 104596869 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:104596869C>T ENST00000369887.3 - 1 421 c.250G>A c.(250-252)Gag>Aag p.E84K CYP17A1_ENST00000489268.1_5'UTR NM_000102.3 NP_000093.1 P05093 CP17A_HUMAN cytochrome P450, family 17, subfamily A, polypeptide 1 84 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) ATAAGCACCTCCTTGGCCAGC 0.532000 15 64 0 0 0.020292 0 0 CDH9 1007 broad.mit.edu 37 5 26890578 26890578 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:26890578G>A ENST00000231021.4 - 8 1521 c.1349C>T c.(1348-1350)tCa>tTa p.S450L NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 450 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CCAAGGAGATGATTCCCGGTC 0.403000 12 62 0 0 0.010729 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19204081 19204081 + Silent SNP G G A rs150927009 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:19204081G>A ENST00000375341.3 - 10 1223 c.966C>T c.(964-966)ttC>ttT p.F322F RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Silent_p.F262F|ALDH4A1_ENST00000290597.5_Silent_p.F322F|ALDH4A1_ENST00000538839.1_Silent_p.F322F NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 322 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity p.F322F(4) cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) AGCGGTGCACGAAGTGGAAGT 0.657000 4 32 0 0 0.009096 0 0 FANK1 92565 broad.mit.edu 37 10 127693492 127693492 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:127693492G>A ENST00000368695.1 + 7 683 c.561G>A c.(559-561)gtG>gtA p.V187V FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Silent_p.V193V NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 193 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) TAGATGTTGTGAAATATCTCC 0.527000 38 109 0 0 0.006230 0 0 SRGN 5552 broad.mit.edu 37 10 70863760 70863760 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:70863760C>T ENST00000242465.3 + 3 401 c.361C>T c.(361-363)Caa>Taa p.Q121* SRGN_ENST00000462445.1_3'UTR NM_002727.2 NP_002718.2 P10124 SRGN_HUMAN serglycin 121 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3) 7 ACAGGATTACCAACTAGTAGA 0.512000 10 34 0 0 0.008291 0 0 OR2A14 135941 broad.mit.edu 37 7 143827081 143827081 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:143827081G>A ENST00000408899.2 + 1 931 c.876G>A c.(874-876)agG>agA p.R292R NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) ATAGCCTAAGGAATGCAGAGG 0.557000 51 192 0 0 0.014410 0 0 KARS 3735 broad.mit.edu 37 16 75681539 75681539 + Translation_Start_Site SNP T T A rs138776538 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:75681539T>A ENST00000319410.5 - 0 24 KARS_ENST00000302445.3_De_novo_Start_InFrame NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) GGCCGCCATCTTCCCGGAGGG 0.597000 6 17 0 0 0.004482 0 0 EMR1 2015 broad.mit.edu 37 19 6903930 6903930 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:6903930G>A ENST00000312053.4 + 7 808 c.771G>A c.(769-771)ttG>ttA p.L257L EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.L205L|EMR1_ENST00000250572.8_Silent_p.L257L|EMR1_ENST00000381407.5_Silent_p.L116L NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 257 EGF-like 5; 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) ATGGACAGTTGAATTTCACAG 0.453000 15 51 0 0 0.003163 0 0 LRRC55 219527 broad.mit.edu 37 11 56950032 56950032 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:56950032T>C ENST00000497933.1 + 1 812 c.665T>C c.(664-666)cTg>cCg p.L222P NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 192 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 TTCCTCAGCCTGGAGGCTCTT 0.652000 37 74 0 0 0.005524 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166494 140166494 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140166494G>A ENST00000504120.2 + 1 619 c.619G>A c.(619-621)Gaa>Aaa p.E207K PCDHA1_ENST00000394633.3_Missense_Mutation_p.E207K|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E207K 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) AGAAACACCAGAACTTCACTT 0.448000 47 46 0 0 0.014410 0 0 ADCY10 55811 broad.mit.edu 37 1 167779006 167779006 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:167779006C>T ENST00000367848.1 - 33 4963 c.4466G>A c.(4465-4467)tGg>tAg p.W1489* ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.W1581*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.W1428* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1581 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AATTTTTTCCCATGATGGGAG 0.388000 39 47 0 0 0.005524 0 0 GTSE1 51512 broad.mit.edu 37 22 46724623 46724623 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:46724623C>T ENST00000454366.1 + 10 1975 c.1763C>T c.(1762-1764)tCc>tTc p.S588F NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 569 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AAGACAGATTCCAGGCTGGTG 0.468000 25 84 0 0 0.010818 0 0 C1orf173 127254 broad.mit.edu 37 1 75078373 75078373 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:75078373G>A ENST00000326665.5 - 9 1339 c.1121C>T c.(1120-1122)tCc>tTc p.S374F C1orf173_ENST00000420661.2_Missense_Mutation_p.S177F|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 374 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 TCCAAGCCTGGAACCTTTCCG 0.463000 12 29 0 0 0.016723 0 0 LILRA3 11026 broad.mit.edu 37 19 54803734 54803734 + Silent SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:54803734G>T ENST00000391745.1 - 7 457 c.141C>A c.(139-141)acC>acA p.T47T LILRA3_ENST00000391744.3_Silent_p.T30T|LILRA3_ENST00000251390.3_Silent_p.T30T leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGCCCAGAGGGTGGGCTTGG 0.562000 26 73 7.01153e-11 7.36455e-11 0.007291 1 0 MORC1 27136 broad.mit.edu 37 3 108682317 108682317 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:108682317C>T ENST00000232603.5 - 27 2825 c.2743G>A c.(2743-2745)Gat>Aat p.D915N MORC1_ENST00000483760.1_Missense_Mutation_p.D894N NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 915 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 TTCAGCTTATCCTCAGAGATT 0.353000 13 42 0 0 0.016723 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13475031 13475031 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:13475031G>A ENST00000376126.2 - 3 1097 c.1098C>T c.(1096-1098)ctC>ctT p.L366L NM_001099850.1 NP_001093320.1 Q5VWM3 PRA18_HUMAN PRAME family member 18 366 lung(2)|ovary(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGATGACCCTGAGTTTGGAGT 0.572000 105 278 0 0 0.014410 0 0 SLC9A2 6549 broad.mit.edu 37 2 103324924 103324924 + Silent SNP C C T rs112482803 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:103324924C>T ENST00000233969.2 + 12 2557 c.2415C>T c.(2413-2415)gcC>gcT p.A805A NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 805 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 GCCGGAAAGCCCGATTTGGGA 0.562000 39 68 0 0 0.007835 0 0 NOD1 10392 broad.mit.edu 37 7 30492619 30492619 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:30492619G>A ENST00000222823.4 - 6 939 c.414C>T c.(412-414)ggC>ggT p.G138G NOD1_ENST00000423334.2_Silent_p.G138G NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 138 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TGGAGTCACGGCCCAGATGGT 0.582000 22 51 0 0 0.016522 0 0 EVC2 132884 broad.mit.edu 37 4 5667321 5667321 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:5667321G>A ENST00000310917.2 - 8 1417 c.686C>T c.(685-687)tCc>tTc p.S229F EVC2_ENST00000344938.1_Missense_Mutation_p.S309F|EVC2_ENST00000344408.5_Missense_Mutation_p.S309F NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 309 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CAGCACAAGGGAGAGGAGGAA 0.577000 15 35 0 0 0.020292 0 0 CACNA1C 775 broad.mit.edu 37 12 2797764 2797764 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:2797764C>T ENST00000399655.1 + 46 6201 c.5936C>T c.(5935-5937)tCc>tTc p.S1979F CACNA1C_ENST00000399638.1_Missense_Mutation_p.S2007F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1979F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1987F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S2020F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1999F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1979F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2050F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1979F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S2027F|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1979F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S2014F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1998F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1987F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2050F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1979F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1996F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S2014F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1998F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1985F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S2004F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1998F 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 2062 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) GGGGTCGAGTCCAGTGAGAAA 0.697000 20 55 0 0 0.007413 0 0 CASP1 834 broad.mit.edu 37 11 104900534 104900534 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:104900534C>T ENST00000533400.1 - 6 755 c.720G>A c.(718-720)cgG>cgA p.R240R CASP1_ENST00000528974.1_Silent_p.R201R|CASP1_ENST00000393136.4_Silent_p.R219R|CASP1_ENST00000598974.1_Silent_p.R240R|CASP1_ENST00000525825.1_Silent_p.R219R|CASP1_ENST00000534497.1_Silent_p.R147R|CASP1_ENST00000593315.1_Silent_p.R219R|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000526568.1_Silent_p.R147R|CASP1_ENST00000594519.1_Silent_p.R147R|CASP1_ENST00000436863.3_Silent_p.R240R|CASP1_ENST00000446369.1_Silent_p.R147R|CASP1_ENST00000527979.1_Silent_p.R203R|CASP1_ENST00000531166.1_Intron NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 240 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AAATGCCTTCCCGAATACCAT 0.463000 12 32 0 0 0.010729 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32502640 32502640 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:32502640C>T ENST00000327300.7 + 5 1068 c.901C>T c.(901-903)Ccc>Tcc p.P301S KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P262S|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 301 Pro-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACCACCTGTTCCCAGGTAAAA 0.493000 21 65 0 0 0.014323 0 0 PTPRH 5794 broad.mit.edu 37 19 55711784 55711784 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:55711784G>A ENST00000376350.3 - 7 1262 c.1240C>T c.(1240-1242)Cct>Tct p.P414S PTPRH_ENST00000263434.5_Missense_Mutation_p.P236S|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 414 Fibronectin type-III 5. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TAGTCCTGAGGGTATGGGCCA 0.547000 33 63 0 0 0.015359 0 0 FER1L6 654463 broad.mit.edu 37 8 124989720 124989720 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:124989720G>A ENST00000522917.1 + 10 1140 c.934G>A c.(934-936)Gaa>Aaa p.E312K FER1L6_ENST00000399018.1_Missense_Mutation_p.E312K NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 312 C2 2. 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) GATCTTCAAGGAAATGTTCCC 0.507000 46 73 0 0 0.014410 0 0 CCDC158 339965 broad.mit.edu 37 4 77317556 77317556 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:77317556G>A ENST00000388914.3 - 3 306 c.154C>T c.(154-156)Cct>Tct p.P52S CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.P52S NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 52 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GGGAAAAAAGGAACCTGTGTC 0.343000 9 22 0 0 0.010729 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120576 64120576 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:64120576G>A ENST00000356786.5 + 21 3595 c.3551G>A c.(3550-3552)gGt>gAt p.G1184D CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.G336D NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1184 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 GAGCTGCAGGGTGAACGCGGG 0.687000 5 15 0 0 0.014758 0 0 PSME4 23198 broad.mit.edu 37 2 54133982 54133982 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:54133982G>A ENST00000404125.1 - 25 2863 c.2808C>T c.(2806-2808)atC>atT p.I936I PSME4_ENST00000421748.2_Silent_p.I80I NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 936 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACAGTGCTCTGATATGTTGTT 0.323000 9 45 0 0 0.008291 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073303 17073303 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:17073303G>A ENST00000359963.3 - 1 397 c.138C>T c.(136-138)gtC>gtT p.V46V NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 46 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AAGGCCGGATGACACTGGCCA 0.642000 20 68 0 0 0.012319 0 0 CCDC77 84318 broad.mit.edu 37 12 539842 539842 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:539842C>T ENST00000239830.4 + 7 702 c.523C>T c.(523-525)Caa>Taa p.Q175* CCDC77_ENST00000412006.2_Nonsense_Mutation_p.Q143*|CCDC77_ENST00000540180.1_Nonsense_Mutation_p.Q143*|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000422000.1_Nonsense_Mutation_p.Q143* NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 175 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) CACCATTCTCCAAAAGACTAT 0.378000 26 72 0 0 0.009535 0 0 ZNF750 79755 broad.mit.edu 37 17 80789372 80789372 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:80789372C>T ENST00000269394.3 - 2 1792 c.959G>A c.(958-960)gGa>gAa p.G320E ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 320 intracellular zinc ion binding p.G320E(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCTGTAAAATCCGTAAGGAAT 0.542000 108 126 0 0 0.014410 0 0 PPFIA1 8500 broad.mit.edu 37 11 70185379 70185379 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:70185379C>T ENST00000253925.7 + 14 1889 c.1674C>T c.(1672-1674)ggC>ggT p.G558G AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.G558G NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 558 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CACAGAAAGGCCGGCTGGCAG 0.572000 18 50 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179650858 179650858 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179650858C>G ENST00000589042.1 - 14 2311 c.2087G>C c.(2086-2088)gGa>gCa p.G696A TTN_ENST00000591111.1_Missense_Mutation_p.G696A|TTN_ENST00000360870.5_Missense_Mutation_p.G696A|TTN_ENST00000359218.5_Missense_Mutation_p.G650A|TTN_ENST00000342992.6_Missense_Mutation_p.G696A|TTN_ENST00000342175.6_Missense_Mutation_p.G650A|TTN_ENST00000460472.2_Missense_Mutation_p.G650A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 696 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G650E(3)|p.G696E(2) 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) AGCCTTTTTTCCAACGTCCAC 0.507000 3 23 0 0 0.004672 0 0 TIE1 7075 broad.mit.edu 37 1 43775076 43775076 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:43775076G>A ENST00000441333.2 + 7 931 c.931G>A c.(931-933)Gga>Aga p.G311R TIE1_ENST00000372476.3_Silent_p.V402V|TIE1_ENST00000433781.2_Silent_p.V47V P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 312 EGF-like 3. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGCCATTGTGGAGCCAGAGA 0.607000 18 52 0 0 0.007413 0 0 WDR88 126248 broad.mit.edu 37 19 33639704 33639704 + Silent SNP C C T rs112724972 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:33639704C>T ENST00000361680.2 + 5 645 c.567C>T c.(565-567)atC>atT p.I189I WDR88_ENST00000592765.1_3'UTR|WDR88_ENST00000355868.3_Silent_p.I189I Q6ZMY6 WDR88_HUMAN WD repeat domain 88 189 p.I189I(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) ATACCTTCATCGTCTCCTGTA 0.463000 26 107 0 0 0.004656 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603001 111603001 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:111603001C>T ENST00000431670.2 + 2 488 c.77C>T c.(76-78)tCt>tTt p.S26F PHLDB2_ENST00000412622.1_Missense_Mutation_p.S26F|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S26F|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S26F|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S26F|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S26F|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S53F NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 26 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 GTGGTGCATTCTGTTGAGAAC 0.408000 31 69 0 0 0.012213 0 0 FLT4 2324 broad.mit.edu 37 5 180057580 180057580 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:180057580G>A ENST00000261937.6 - 3 453 c.375C>T c.(373-375)gcC>gcT p.A125A FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.A125A|FLT4_ENST00000393347.3_Silent_p.A125A NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 125 Ig-like C2-type 1. 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) AGGAGCTGGCGGCCGTGGTGC 0.642000 7 36 0 0 0.001984 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175380 143175380 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:143175380C>T ENST00000408916.1 + 1 415 c.415C>T c.(415-417)Ctg>Ttg p.L139L EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 139 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) GGGCTCTGTCCTGATCTCCTT 0.463000 13 41 0 0 0.020292 0 0 TENM1 10178 broad.mit.edu 37 X 123518401 123518401 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:123518401G>A ENST00000422452.2 - 30 6443 c.6380C>T c.(6379-6381)gCc>gTc p.A2127V TENM1_ENST00000371130.3_Missense_Mutation_p.A2120V|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CATCCAGTAGGCAATTGCCTT 0.378000 14 6 0 0 0.020292 0 0 SPRY3 10251 broad.mit.edu 37 X 155004002 155004002 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:155004002C>T ENST00000302805.2 + 2 900 c.469C>T c.(469-471)Ccc>Tcc p.P157S NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 157 Cys-rich.|SPR. 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) CAAGTGCGTCCCCTGCACAGC 0.592000 27 94 0 0 0.006320 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198172 170198172 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:170198172G>A ENST00000231706.4 - 7 2214 c.1899C>T c.(1897-1899)ccC>ccT p.P633P CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 633 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CAGGCACAAAGGGGAGGCAAG 0.547000 24 137 0 0 0.018920 0 0 CADM1 23705 broad.mit.edu 37 11 115099882 115099882 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:115099882G>A ENST00000542447.2 - 5 800 c.672C>T c.(670-672)caC>caT p.H224H CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Silent_p.H224H|CADM1_ENST00000536727.1_Silent_p.H224H|CADM1_ENST00000537058.1_Silent_p.H224H|CADM1_ENST00000331581.6_Silent_p.H224H NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 224 Ig-like C2-type 1. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGACCGCAGGGTGCTCCACCT 0.532000 10 17 0 0 0.006214 0 0 NLRP5 126206 broad.mit.edu 37 19 56549442 56549442 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:56549442C>T ENST00000390649.3 + 10 2667 c.2667C>T c.(2665-2667)atC>atT p.I889I NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 889 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) TCTCCCAAATCCTTACGACCT 0.537000 21 54 0 0 0.012319 0 0 ZFP90 146198 broad.mit.edu 37 16 68598164 68598164 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:68598164C>T ENST00000570495.1 + 5 1766 c.1474C>T c.(1474-1476)Cct>Tct p.P492S RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.P492S|ZFP90_ENST00000563169.2_Missense_Mutation_p.P492S Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 492 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TATTTCTCATCCTGGAGAGAA 0.408000 14 28 0 0 0.020292 0 0 ARPP21 10777 broad.mit.edu 37 3 35834018 35834018 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:35834018A>T ENST00000187397.4 + 19 2633 c.2177A>T c.(2176-2178)tAt>tTt p.Y726F ARPP21_ENST00000444190.1_Missense_Mutation_p.Y707F|ARPP21_ENST00000337271.5_Missense_Mutation_p.Y707F|ARPP21_ENST00000417925.1_Missense_Mutation_p.Y727F|ARPP21_ENST00000458225.1_Missense_Mutation_p.Y727F|ARPP21_ENST00000476052.1_3'UTR NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 726 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATGTCTTCTTATCAGGTGCTC 0.478000 8 24 0 0 0.006214 0 0 CNTN3 5067 broad.mit.edu 37 3 74347335 74347335 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:74347335G>A ENST00000263665.6 - 17 2201 c.2174C>T c.(2173-2175)cCt>cTt p.P725L NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 725 Fibronectin type-III 2. 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) TAGTTCTTCAGGGACTGGCTA 0.453000 8 11 0 0 0.003080 0 0 RFX4 5992 broad.mit.edu 37 12 107113834 107113834 + Splice_Site SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:107113834T>C ENST00000392842.1 + 12 1647 c.e12+2 RFX4_ENST00000229387.5_Splice_Site|RFX4_ENST00000357881.4_Splice_Site|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GTTGTGAAGGTTGGTAAACCG 0.537000 22 54 0 0 0.016522 0 0 TM9SF4 9777 broad.mit.edu 37 20 30747794 30747794 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:30747794G>A ENST00000217315.5 + 16 1858 c.e16-1 TM9SF4_ENST00000398022.2_Splice_Site Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGTGTCCACAGGCTATCTGGG 0.517000 14 42 0 0 0.016723 0 0 E2F8 79733 broad.mit.edu 37 11 19246337 19246337 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:19246337G>A ENST00000527884.1 - 13 2704 c.2472C>T c.(2470-2472)ttC>ttT p.F824F E2F8_ENST00000250024.4_Silent_p.F824F|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 824 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGGGGTACGGAAGAAACTTT 0.488000 10 62 0 0 0.008291 0 0 PGM2 55276 broad.mit.edu 37 4 37847295 37847295 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:37847295T>G ENST00000381967.4 + 8 1051 c.951T>G c.(949-951)atT>atG p.I317M PGM2_ENST00000537241.1_Missense_Mutation_p.I157M|PGM2_ENST00000544359.1_Missense_Mutation_p.I178M NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 317 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 AGGCCAGAATTGTTTTAGCTA 0.338000 31 75 0 0 0.017118 0 0 MAP9 79884 broad.mit.edu 37 4 156289808 156289808 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:156289808G>A ENST00000311277.4 - 5 901 c.638C>T c.(637-639)tCc>tTc p.S213F AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.S140F|AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S213F NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 213 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CGTTGGAAGGGAAGAAGGTGC 0.403000 27 66 0 0 0.006320 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011970 160011970 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:160011970G>A ENST00000368089.3 - 2 579 c.353C>T c.(352-354)gCc>gTc p.A118V KCNJ10_ENST00000509700.1_5'UTR NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 118 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) GAAGAGGAAGGCTCCAGTGAG 0.572000 25 100 0 0 0.021523 0 0 VEGFC 7424 broad.mit.edu 37 4 177650815 177650815 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:177650815C>T ENST00000280193.2 - 2 648 c.233G>A c.(232-234)tGg>tAg p.W78* NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 78 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GTACATTTTCCAATATTCTGG 0.428000 4 17 0 0 0.009096 0 0 DYRK4 8798 broad.mit.edu 37 12 4705788 4705788 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:4705788C>T ENST00000540757.2 + 6 613 c.453C>T c.(451-453)atC>atT p.I151I DYRK4_ENST00000010132.5_Silent_p.I151I|DYRK4_ENST00000543431.1_Silent_p.I151I NM_003845.1 NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 151 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) AGCTGAAGATCCTGGAAGCTC 0.498000 10 20 0 0 0.008291 0 0 CBLB 868 broad.mit.edu 37 3 105378048 105378048 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:105378048G>A ENST00000264122.4 - 19 3036 c.2715C>T c.(2713-2715)ccC>ccT p.P905P CBLB_ENST00000407712.1_Silent_p.P120P|CBLB_ENST00000394027.3_Silent_p.P883P NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 905 Interaction with SH3KBP1.|Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 GTGGTTTAGGGGGTCTGGCTG 0.433000 Mis S AML 5 25 0 0 0.001168 0 0 ZNF589 51385 broad.mit.edu 37 3 48310173 48310173 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:48310173C>T ENST00000354698.3 + 4 1064 c.992C>T c.(991-993)tCg>tTg p.S331L ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 331 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGGAGAAATCGTTTATGTGC 0.502000 28 81 0 0 0.008361 0 0 IFNAR2 3455 broad.mit.edu 37 21 34621083 34621083 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:34621083C>T ENST00000404220.3 + 6 793 c.464C>T c.(463-465)cCa>cTa p.P155L AP000295.9_ENST00000433395.2_Missense_Mutation_p.H63Y|IFNAR2_ENST00000382241.3_Missense_Mutation_p.P155L|IFNAR2_ENST00000382264.3_Missense_Mutation_p.P155L|IFNAR2_ENST00000342101.3_Missense_Mutation_p.P155L|IFNAR2_ENST00000342136.4_Missense_Mutation_p.P155L|IFNAR2_ENST00000413881.1_Missense_Mutation_p.P83L P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 155 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) GTGAAATTTCCATCTATTGTT 0.363000 29 88 0 0 0.010818 0 0 KALRN 8997 broad.mit.edu 37 3 124390670 124390670 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:124390670C>T ENST00000360013.3 + 48 6991 c.6864C>T c.(6862-6864)ccC>ccT p.P2288P KALRN_ENST00000428018.2_Silent_p.P559P|KALRN_ENST00000459915.1_Silent_p.P380P|KALRN_ENST00000291478.4_Silent_p.P591P|KALRN_ENST00000393496.1_Silent_p.P629P NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2287 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTCTGCCTCCCCTGAAGATAT 0.577000 35 77 0 0 0.013726 0 0 STC1 6781 broad.mit.edu 37 8 23709810 23709810 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:23709810C>T ENST00000290271.2 - 2 489 c.206G>A c.(205-207)gGg>gAg p.G69E STC1_ENST00000524323.1_5'UTR NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 69 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GTCATACATCCCATCTGTGTC 0.483000 18 32 0 0 0.007413 0 0 RPS20 6224 broad.mit.edu 37 8 56986630 56986630 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:56986630G>A ENST00000519807.1 - 2 217 c.92C>T c.(91-93)tCc>tTc p.S31F RPS20_ENST00000519606.1_Missense_Mutation_p.S31F|RPS20_ENST00000518875.1_Missense_Mutation_p.S31F|RPS20_ENST00000521262.1_Missense_Mutation_p.S31F|RPS20_ENST00000524349.1_5'UTR|RPS20_ENST00000009589.3_Missense_Mutation_p.S31F|RPS20_ENST00000520627.1_Intron|RPS20_ENST00000523936.1_Missense_Mutation_p.S31F|RPS20_ENST00000520490.1_5'UTR NM_001146227.1 NP_001139699.1 P60866 RS20_HUMAN ribosomal protein S20 31 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) CTTTTCCAAGGATTTTACGTT 0.488000 16 88 0 0 0.008361 0 0 KIF2B 84643 broad.mit.edu 37 17 51900695 51900695 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:51900695G>A ENST00000268919.4 + 1 457 c.301G>A c.(301-303)Gcg>Acg p.A101T NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 101 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 CTTGGCTCTGGCGCCCTCTTC 0.597000 79 129 0 0 0.014410 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060380 35060380 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:35060380C>T ENST00000373913.3 + 3 740 c.260C>T c.(259-261)cCc>cTc p.P87L DLGAP4_ENST00000339266.5_Missense_Mutation_p.P87L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P87L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P87L Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 87 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GAGGAGAGCCCCTTCCCCAGC 0.627000 28 55 0 0 0.008361 0 0 MYH7B 57644 broad.mit.edu 37 20 33588110 33588110 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:33588110G>A ENST00000262873.7 + 37 5014 c.4922G>A c.(4921-4923)cGa>cAa p.R1641Q NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1599 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) AACCACCAGCGAGCTGTGGAG 0.602000 73 190 0 0 0.014410 0 0 NCAM2 4685 broad.mit.edu 37 21 22790801 22790801 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:22790801T>C ENST00000400546.1 + 11 1641 c.1392T>C c.(1390-1392)ccT>ccC p.P464P NCAM2_ENST00000284894.7_Silent_p.P322P NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 464 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AGATTGCACCTACATCTGACA 0.323000 26 82 0 0 0.010818 0 0 AOAH 313 broad.mit.edu 37 7 36616196 36616196 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:36616196C>T ENST00000431169.1 - 13 1305 c.1005G>A c.(1003-1005)caG>caA p.Q335Q AOAH_ENST00000258749.5_Silent_p.Q335Q|AOAH_ENST00000535891.1_Silent_p.Q303Q|AOAH_ENST00000538464.1_Silent_p.Q57Q NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 335 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TTGAAATATTCTGGTAGTCCC 0.303000 8 33 0 0 0.004482 0 0 FBXO3 26273 broad.mit.edu 37 11 33790446 33790446 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:33790446G>A ENST00000530401.1 - 3 314 c.294C>T c.(292-294)ctC>ctT p.L98L FBXO3_ENST00000265651.3_Silent_p.L103L|FBXO3_ENST00000448981.2_Silent_p.L103L|FBXO3_ENST00000526785.1_5'UTR|FBXO3_ENST00000534136.1_Silent_p.L103L|FBXO3_ENST00000533103.1_5'UTR Q9UK99 FBX3_HUMAN F-box protein 3 103 IKK -> VKR (in Ref. 2; CAB66560). proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) AATATTTCTTGAGATCATCCC 0.403000 46 90 0 0 0.014410 0 0 C10orf71 118461 broad.mit.edu 37 10 50532358 50532358 + Missense_Mutation SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:50532358A>C ENST00000374144.3 + 3 2056 c.1768A>C c.(1768-1770)Act>Cct p.T590P C10orf71_ENST00000323868.4_Missense_Mutation_p.T590P Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 590 endometrium(1) 1 CAGCTATCTAACTCTTAGCAC 0.532000 8 24 0 0 0.006214 0 0 ZNF668 79759 broad.mit.edu 37 16 31072471 31072471 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:31072471G>A ENST00000538906.1 - 3 2562 c.1778C>T c.(1777-1779)aCc>aTc p.T593I ZNF668_ENST00000426488.2_Missense_Mutation_p.T616I|ZNF668_ENST00000539836.3_Missense_Mutation_p.T616I|ZNF668_ENST00000535577.1_Missense_Mutation_p.T593I|ZNF668_ENST00000394983.2_Missense_Mutation_p.T593I|ZNF668_ENST00000300849.4_Missense_Mutation_p.T593I NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CACAGGGTGGGTGCGTTCATG 0.652000 34 58 0 0 0.013726 0 0 TFAP2C 7022 broad.mit.edu 37 20 55209305 55209305 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:55209305C>T ENST00000201031.2 + 5 1146 c.903C>T c.(901-903)ctC>ctT p.L301L TFAP2C_ENST00000544508.1_Silent_p.L132L NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 301 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) ATGTGACTCTCCTGACATCCT 0.463000 9 31 0 0 0.006214 0 0 HGF 3082 broad.mit.edu 37 7 81372669 81372669 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:81372669C>T ENST00000222390.5 - 7 1091 c.865_splice c.e7+1 p.A289_splice HGF_ENST00000444829.2_Splice_Site_p.E289_splice|HGF_ENST00000457544.2_Splice_Site_p.A284_splice|HGF_ENST00000453411.1_Splice_Site_p.E284_splice NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 289 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CTTCACTTACCGCATGTTTTA 0.448000 9 23 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179433986 179433986 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179433986G>A ENST00000589042.1 - 326 77097 c.76873C>T c.(76873-76875)Cct>Tct p.P25625S TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23984S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16685S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23057S|TTN_ENST00000342175.6_Missense_Mutation_p.P16752S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16560S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23984 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) TCCAACAAAGGAGGTTCCCAT 0.403000 28 91 0 0 0.006320 0 0 KCNH4 23415 broad.mit.edu 37 17 40328260 40328260 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:40328260C>T ENST00000264661.3 - 5 973 c.641G>A c.(640-642)gGg>gAg p.G214E KCNH4_ENST00000607371.1_Missense_Mutation_p.G214E NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 214 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCAGCGAGACCCCCCCACGGA 0.607000 28 158 0 0 0.008361 0 0 NLRP5 126206 broad.mit.edu 37 19 56515291 56515291 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:56515291C>T ENST00000390649.3 + 2 272 c.272C>T c.(271-273)tCg>tTg p.S91L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 91 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTTCAGAATCGACCACATGC 0.453000 21 37 0 0 0.008871 0 0 HID1 283987 broad.mit.edu 37 17 72959095 72959095 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:72959095C>T ENST00000425042.2 - 4 546 c.469G>A c.(469-471)Gac>Aac p.D157N HID1_ENST00000532900.1_5'UTR NM_030630.2 NP_085133.1 HID1 domain containing ACCGTGAAGTCCGGGCAGAAG 0.677000 7 62 0 0 0.001984 0 0 BCO2 83875 broad.mit.edu 37 11 112084579 112084579 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:112084579G>A ENST00000357685.5 + 9 1462 c.1327G>A c.(1327-1329)Gga>Aga p.G443R BCO2_ENST00000532593.1_Missense_Mutation_p.G338R|BCO2_ENST00000531169.1_Missense_Mutation_p.G409R|BCO2_ENST00000393032.2_Missense_Mutation_p.G409R|BCO2_ENST00000361053.4_Missense_Mutation_p.G370R|BCO2_ENST00000526088.1_Missense_Mutation_p.G409R|BCO2_ENST00000438022.1_Missense_Mutation_p.G409R Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 443 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 ACAGGCTGATGGAACGGTATG 0.398000 40 94 0 0 0.009718 0 0 ZNF761 388561 broad.mit.edu 37 19 53959670 53959670 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:53959670G>A ENST00000454407.1 + 0 2362 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TTACAAATGTGAAGAATGTGA 0.428000 21 60 0 0 0.010504 0 0 BTNL3 10917 broad.mit.edu 37 5 180432492 180432492 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:180432492C>T ENST00000342868.6 + 8 1205 c.1021C>T c.(1021-1023)Cat>Tat p.H341Y NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 341 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) AGCAGGGAAACATTACTGGGA 0.502000 37 127 0 0 0.005524 0 0 IGSF10 285313 broad.mit.edu 37 3 151155254 151155254 + Silent SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:151155254T>G ENST00000282466.3 - 6 7094 c.7095A>C c.(7093-7095)ccA>ccC p.P2365P 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 2365 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) TTTCAGGTGGTGGGTTACCAT 0.378000 26 47 0 0 0.007291 0 0 NOL8 55035 broad.mit.edu 37 9 95077282 95077282 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:95077282G>A ENST00000545558.1 - 7 2117 c.1625C>T c.(1624-1626)gCg>gTg p.A542V NOL8_ENST00000442668.2_Missense_Mutation_p.A542V|NOL8_ENST00000542053.1_Missense_Mutation_p.A474V|NOL8_ENST00000535387.1_Missense_Mutation_p.A542V|NOL8_ENST00000358855.4_Missense_Mutation_p.A474V Q76FK4 NOL8_HUMAN nucleolar protein 8 542 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CACAATCTCCGCAGGACGAAT 0.507000 6 38 0 0 0.003080 0 0 KIF20A 10112 broad.mit.edu 37 5 137517384 137517384 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:137517384T>C ENST00000394894.3 + 4 568 c.342T>C c.(340-342)atT>atC p.I114I KIF20A_ENST00000508792.1_Silent_p.I96I NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 114 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AACGGGGAATTGGCCAAGCCA 0.478000 22 67 0 0 0.014323 0 0 DYRK3 8444 broad.mit.edu 37 1 206821372 206821372 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:206821372A>T ENST00000367106.1 + 4 1242 c.769A>T c.(769-771)Agt>Tgt p.S257C DYRK3_ENST00000367108.3_Missense_Mutation_p.S257C|DYRK3_ENST00000367109.2_Missense_Mutation_p.S277C|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 277 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CATGCTGGAAAGTTTCACATT 0.413000 21 91 0 0 0.014323 0 0 SAMD9 54809 broad.mit.edu 37 7 92734480 92734480 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:92734480G>A ENST00000379958.2 - 3 1200 c.931C>T c.(931-933)Cca>Tca p.P311S NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 311 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAGAACTGTGGAATAATGTCC 0.338000 14 33 0 0 0.016723 0 0 KIAA2022 340533 broad.mit.edu 37 X 73961064 73961064 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:73961064C>T ENST00000373468.1 - 3 3979 c.3328G>A c.(3328-3330)Gaa>Aaa p.E1110K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1110K Q5QGS0 K2022_HUMAN KIAA2022 1110 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.E1110K(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTGATTTTTTCCACACTGTCC 0.443000 11 8 0 0 0.016723 0 0 PRPF3 9129 broad.mit.edu 37 1 150305460 150305460 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:150305460C>T ENST00000324862.6 + 6 683 c.518C>T c.(517-519)cCt>cTt p.P173L PRPF3_ENST00000543398.1_Missense_Mutation_p.P38L|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.P124L NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 173 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) CCAAAGACTCCTTCTTCCTCC 0.443000 36 57 0 0 0.008740 0 0 ITGA9 3680 broad.mit.edu 37 3 37725427 37725427 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:37725427A>G ENST00000264741.5 + 18 2244 c.1988A>G c.(1987-1989)aAc>aGc p.N663S NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 663 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TCTATCTCCAACCTCGGAGAT 0.458000 16 40 0 0 0.004007 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3394464 3394464 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:3394464G>A ENST00000378378.4 + 11 1904 c.1499G>A c.(1498-1500)cGg>cAg p.R500Q ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R212Q|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R212Q|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R204Q NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 500 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCTGCCTCCCGGTGGCTGCTG 0.612000 17 49 0 0 0.006122 0 0 CYP20A1 57404 broad.mit.edu 37 2 204116694 204116694 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:204116694C>T ENST00000356079.4 + 4 417 c.294C>T c.(292-294)gaC>gaT p.D98D CYP20A1_ENST00000429815.2_Silent_p.D98D|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 98 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 TTTCAGCGGACCCTTTTGAAA 0.363000 7 35 0 0 0.003080 0 0 GDF2 2658 broad.mit.edu 37 10 48413875 48413875 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:48413875G>A ENST00000249598.1 - 2 1152 c.993C>T c.(991-993)tcC>tcT p.S331S NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 331 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TTACCCGCAGGGAGGTCTTTT 0.612000 23 64 0 0 0.007291 0 0 NACA 4666 broad.mit.edu 37 12 57110203 57110203 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:57110203G>A ENST00000454682.1 - 3 5392 c.5111C>T c.(5110-5112)cCa>cTa p.P1704L NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_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 TTTGGTCTGTGGACCTTTCCG 0.527000 T BCL6 NHL 77 210 0 0 0.014410 0 0 APOBEC3D 140564 broad.mit.edu 37 22 39421141 39421141 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:39421141C>T ENST00000216099.7 + 3 684 c.277C>T c.(277-279)Cct>Tct p.P93S APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.P93S NM_152426.3 NP_689639.2 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D 93 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2) 11 Melanoma(58;0.04) CAACCGACTGCCTGCTAACAG 0.547000 13 94 0 0 0.004007 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814685 106814685 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:106814685C>T ENST00000407775.2 + 8 2625 c.2375C>T c.(2374-2376)cCa>cTa p.P792L ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P660L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P523L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P660L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 792 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATATCTTTCCAGGAATTGTC 0.438000 9 9 0 0 0.006214 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203175 140203175 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140203175G>A ENST00000529859.1 + 1 1815 c.1815G>A c.(1813-1815)tgG>tgA p.W605* PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.W605*|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.W605* NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACGCTTGGCTTTCGTATG 0.662000 33 100 0 0 0.012213 0 0 SLC2A14 144195 broad.mit.edu 37 12 7970503 7970503 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:7970503G>A ENST00000543909.1 - 15 2027 c.1268C>T c.(1267-1269)cCa>cTa p.P423L SLC2A14_ENST00000431042.2_Missense_Mutation_p.P400L|SLC2A14_ENST00000542505.1_Missense_Mutation_p.P64L|SLC2A14_ENST00000535295.1_Missense_Mutation_p.P314L|SLC2A14_ENST00000539924.1_Missense_Mutation_p.P438L|SLC2A14_ENST00000396589.2_Missense_Mutation_p.P423L|SLC2A14_ENST00000340749.5_Missense_Mutation_p.P400L|SLC2A14_ENST00000542546.1_Missense_Mutation_p.P314L Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 423 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CATCGCAGCTGGGCGGGGGCC 0.547000 15 47 0 0 0.006122 0 0 DBH 1621 broad.mit.edu 37 9 136501609 136501609 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:136501609G>A ENST00000393056.2 + 1 128 c.116G>A c.(115-117)gGc>gAc p.G39D NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 39 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCACTGCAGGGCTCGGCTCCC 0.672000 13 52 0 0 0.013537 0 0 OR51F2 119694 broad.mit.edu 37 11 4842629 4842629 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:4842629C>T ENST00000322110.5 + 1 79 c.14C>T c.(13-15)tCc>tTc p.S5F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 5 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) ACTGAAACATCCCTGTCTTCT 0.408000 18 78 0 0 0.010504 0 0 CD84 8832 broad.mit.edu 37 1 160523735 160523735 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:160523735T>C ENST00000368054.3 - 3 625 c.590A>G c.(589-591)aAc>aGc p.N197S CD84_ENST00000534968.1_Missense_Mutation_p.N83S|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Missense_Mutation_p.N197S|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368048.3_Missense_Mutation_p.N197S|CD84_ENST00000311224.4_Missense_Mutation_p.N197S NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 197 Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GCTGACAGGGTTCTGGGCTGT 0.527000 10 37 0 0 0.006214 0 0 SSPO 23145 broad.mit.edu 37 7 149500848 149500848 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:149500848C>T ENST00000378016.2 + 0 8166 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) CAGCCTGGTCCTCCTGGGCTC 0.687000 6 10 0 0 0.001168 0 0 LMO3 55885 broad.mit.edu 37 12 16753761 16753761 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:16753761C>T ENST00000320122.6 - 2 556 c.34G>A c.(34-36)Ggt>Agt p.G12S LMO3_ENST00000537304.1_Missense_Mutation_p.G12S|LMO3_ENST00000354662.1_Missense_Mutation_p.G12S|LMO3_ENST00000534946.1_Missense_Mutation_p.G12S|LMO3_ENST00000447609.1_Missense_Mutation_p.G12S|LMO3_ENST00000261169.6_Missense_Mutation_p.G23S|LMO3_ENST00000535535.1_Missense_Mutation_p.G12S|LMO3_ENST00000441439.2_Missense_Mutation_p.G12S|LMO3_ENST00000541846.1_Missense_Mutation_p.G12S|LMO3_ENST00000541295.1_Missense_Mutation_p.G30S|LMO3_ENST00000540848.1_Missense_Mutation_p.G12S|LMO3_ENST00000537568.1_5'UTR|LMO3_ENST00000540445.1_Missense_Mutation_p.G12S NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 12 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) CCAGCACAACCTTTCGGCTTG 0.468000 9 26 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9046923 9046923 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:9046923C>T ENST00000397910.4 - 5 34911 c.34708G>A c.(34708-34710)Gaa>Aaa p.E11570K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11572 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 GTCTCTGGTTCATATGGGGTC 0.502000 16 21 0 0 0.008871 0 0 HELLS 3070 broad.mit.edu 37 10 96313987 96313987 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:96313987G>A ENST00000348459.5 + 3 363 c.258G>A c.(256-258)atG>atA p.M86I HELLS_ENST00000394036.1_Missense_Mutation_p.M86I|HELLS_ENST00000394044.1_Missense_Mutation_p.M86I|HELLS_ENST00000371332.4_Missense_Mutation_p.M86I|HELLS_ENST00000239026.6_Missense_Mutation_p.M86I|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.M86I NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 86 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) TGACGAAAATGGAACAGCAAC 0.303000 24 75 0 0 0.004656 0 0 MBL2 4153 broad.mit.edu 37 10 54530513 54530513 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:54530513C>T ENST00000373968.3 - 2 285 c.221G>A c.(220-222)gGa>gAa p.G74E MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 74 Collagen-like. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CCCCAACTTTCCAGGGGGGCC 0.522000 24 82 0 0 0.004656 0 0 UGT1A1 54658 broad.mit.edu 37 2 234676526 234676526 + Missense_Mutation SNP C C T rs144978321 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:234676526C>T ENST00000360418.3 + 3 1028 c.1028C>T c.(1027-1029)tCg>tTg p.S343L UGT1A1_ENST00000305208.5_Missense_Mutation_p.S343L|UGT1A6_ENST00000373424.1_Missense_Mutation_p.S75L|UGT1A7_ENST00000373426.3_Missense_Mutation_p.S340L|UGT1A10_ENST00000373445.1_Missense_Mutation_p.S340L|UGT1A8_ENST00000373450.4_Missense_Mutation_p.S340L|UGT1A9_ENST00000354728.4_Missense_Mutation_p.S340L|UGT1A10_ENST00000344644.5_Missense_Mutation_p.S340L|UGT1A6_ENST00000305139.6_Missense_Mutation_p.S342L|UGT1A3_ENST00000482026.1_Missense_Mutation_p.S344L|UGT1A6_ENST00000406651.1_Missense_Mutation_p.S75L|UGT1A4_ENST00000373409.3_Missense_Mutation_p.S344L|UGT1A5_ENST00000373414.3_Missense_Mutation_p.S344L P22309 UD11_HUMAN 343 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) ACCCGACCATCGAATCTTGCG 0.448000 29 111 0 0 0.012213 0 0 RAD17 5884 broad.mit.edu 37 5 68689179 68689179 + Splice_Site SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:68689179A>T ENST00000509734.1 + 14 1986 c.e14-1 RAD17_ENST00000345306.6_Splice_Site|RAD17_ENST00000358030.2_Splice_Site|RAD17_ENST00000354312.3_Splice_Site|RAD17_ENST00000354868.5_Splice_Site|RAD17_ENST00000361732.2_Splice_Site|RAD17_ENST00000380774.3_Splice_Site|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000305138.4_Splice_Site|RAD17_ENST00000282891.6_Splice_Site|RAD17_ENST00000521422.1_Splice_Site O75943 RAD17_HUMAN RAD17 homolog (S. pombe) cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTTTTTATAGGAGGTAGTA 0.294000 Other conserved DNA damage response genes 14 45 0 0 0.004007 0 0 KIAA1109 84162 broad.mit.edu 37 4 123097030 123097030 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:123097030C>T ENST00000264501.4 + 6 692 c.319C>T c.(319-321)Cgg>Tgg p.R107W KIAA1109_ENST00000388738.3_Missense_Mutation_p.R107W|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R107W Q2LD37 K1109_HUMAN KIAA1109 107 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CATCATTTTTCGGTGGTGGAA 0.274000 7 13 0 0 0.003080 0 0 OR4D5 219875 broad.mit.edu 37 11 123810592 123810592 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:123810592C>T ENST00000307033.2 + 1 343 c.269C>T c.(268-270)cCt>cTt p.P90L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCAGGCAACCCTACCATTTCC 0.473000 28 34 0 0 0.004656 0 0 KIAA1377 57562 broad.mit.edu 37 11 101828931 101828931 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:101828931C>T ENST00000263468.8 + 5 809 c.539C>T c.(538-540)tCa>tTa p.S180L KIAA1377_ENST00000537689.1_5'UTR NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 180 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TCCGCATTATCAAAAAATGAT 0.328000 67 162 0 0 0.014410 0 0 IGHG3 3502 broad.mit.edu 37 14 106236004 106236004 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:106236004G>A ENST00000390551.2 - 0 799 CTTTGGTTTTGGAGATGGTTT 0.612000 75 207 0 0 0.014410 0 0 CEP44 80817 broad.mit.edu 37 4 175223258 175223258 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f 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_ENST00000296519.4_Missense_Mutation_p.Y53F|CEP44_ENST00000457424.2_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 10 30 0 0 0.006214 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856333 62856333 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:62856333G>A ENST00000584306.1 - 11 4461 c.3931C>T c.(3931-3933)Cgc>Tgc p.R1311C LRRC37A3_ENST00000400877.3_Missense_Mutation_p.R349C|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.R288C|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.R1311C|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.R429C NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1311 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ATGCGGGAGCGAGTTTTGTGA 0.413000 230 151 0 0 0.014410 0 0 DSCAM 1826 broad.mit.edu 37 21 41447102 41447102 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:41447102C>T ENST00000400454.1 - 27 5227 c.4750G>A c.(4750-4752)Gaa>Aaa p.E1584K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1584 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AGCCCTTCTTCGTTTTGGACA 0.527000 14 45 0 0 0.020292 0 0 SLC2A14 144195 broad.mit.edu 37 12 7970504 7970504 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:7970504G>A ENST00000543909.1 - 15 2026 c.1267C>T c.(1267-1269)Cca>Tca p.P423S SLC2A14_ENST00000431042.2_Missense_Mutation_p.P400S|SLC2A14_ENST00000542505.1_Missense_Mutation_p.P64S|SLC2A14_ENST00000535295.1_Missense_Mutation_p.P314S|SLC2A14_ENST00000539924.1_Missense_Mutation_p.P438S|SLC2A14_ENST00000396589.2_Missense_Mutation_p.P423S|SLC2A14_ENST00000340749.5_Missense_Mutation_p.P400S|SLC2A14_ENST00000542546.1_Missense_Mutation_p.P314S Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 423 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATCGCAGCTGGGCGGGGGCCC 0.547000 15 48 0 0 0.006122 0 0 GRIK1 2897 broad.mit.edu 37 21 31062114 31062114 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:31062114C>T ENST00000399914.1 - 3 999 c.478G>A c.(478-480)Gcg>Acg p.A160T GRIK1_ENST00000535441.1_Missense_Mutation_p.A160T|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.A160T|GRIK1_ENST00000399913.1_Missense_Mutation_p.A160T|GRIK1_ENST00000399907.1_Missense_Mutation_p.A160T|GRIK1_ENST00000309434.7_Missense_Mutation_p.A160T|GRIK1_ENST00000399909.1_Missense_Mutation_p.A160T|GRIK1_ENST00000389124.2_Missense_Mutation_p.A160T|GRIK1_ENST00000389125.3_Missense_Mutation_p.A160T P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 160 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCCAGGATCGCCCTGCTGATA 0.488000 36 66 0 0 0.019004 0 0 LIG3 3980 broad.mit.edu 37 17 33316651 33316651 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:33316651C>T ENST00000378526.4 + 4 991 c.858C>T c.(856-858)atC>atT p.I286I LIG3_ENST00000262327.5_Silent_p.I286I NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 286 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CCCAGATCATCCAGGACTTCC 0.547000 Other BER factors 23 105 0 0 0.016522 0 0 B3GNT2 10678 broad.mit.edu 37 2 62450312 62450312 + Silent SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:62450312G>C ENST00000301998.4 + 2 1209 c.957G>C c.(955-957)ctG>ctC p.L319L B3GNT2_ENST00000405767.1_Silent_p.L319L NM_006577.5 NP_006568.2 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 319 Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1) 18 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) CCCTGAGGCTGTACCATATCA 0.532000 27 57 0 0 0.006320 0 0 CACNA1E 777 broad.mit.edu 37 1 181701835 181701835 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:181701835G>A ENST00000526775.1 + 19 2721 c.2556G>A c.(2554-2556)agG>agA p.R852R CACNA1E_ENST00000367567.4_Silent_p.R478R|CACNA1E_ENST00000357570.5_Silent_p.R822R|CACNA1E_ENST00000360108.3_Silent_p.R852R|CACNA1E_ENST00000358338.5_Silent_p.R803R|CACNA1E_ENST00000367573.2_Silent_p.R871R|CACNA1E_ENST00000367570.1_Silent_p.R871R NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 871 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 ACAACCAGAGGACCCCTTTGT 0.672000 7 25 0 0 0.003080 0 0 GPR97 222487 broad.mit.edu 37 16 57718363 57718363 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:57718363C>T ENST00000333493.4 + 10 1385 c.1224C>T c.(1222-1224)atC>atT p.I408I GPR97_ENST00000327655.6_Silent_p.I198I|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.I288I NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 408 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 TCTACACCATCCGTGATAGGG 0.627000 11 36 0 0 0.010729 0 0 NAF1 92345 broad.mit.edu 37 4 164050415 164050415 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:164050415G>A ENST00000274054.2 - 8 1312 c.1119C>T c.(1117-1119)ttC>ttT p.F373F NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 373 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding p.F373L(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ATCCTCGTGTGAATTCTCTGT 0.448000 22 50 0 0 0.014323 0 0 CD163 9332 broad.mit.edu 37 12 7640647 7640647 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:7640647G>A ENST00000359156.4 - 7 1659 c.1457C>T c.(1456-1458)cCc>cTc p.P486L CD163_ENST00000541972.1_Missense_Mutation_p.P474L|CD163_ENST00000396620.3_Missense_Mutation_p.P486L|CD163_ENST00000432237.2_Missense_Mutation_p.P486L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 486 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TCCAGAACAGGGAATGTCCCC 0.468000 8 11 0 0 0.006214 0 0 IRF2 3660 broad.mit.edu 37 4 185309930 185309930 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:185309930G>A ENST00000393593.3 - 9 1239 c.1032C>T c.(1030-1032)gcC>gcT p.A344A NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 344 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) TCTTGACGCGGGCCTGGGTGA 0.527000 30 84 0 0 0.010818 0 0 LILRA2 11027 broad.mit.edu 37 19 55085963 55085963 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:55085963G>A ENST00000251377.3 + 4 399 c.266G>A c.(265-267)tGg>tAg p.W89* LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.W89*|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.W89*|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.W77*|LILRB1_ENST00000418536.2_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) TCCATCACCTGGGAACACGCA 0.527000 21 56 0 0 0.016522 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627728 234627728 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:234627728G>A ENST00000373409.3 + 1 305 c.262G>A c.(262-264)Gaa>Aaa p.E88K UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_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) GACCCAGAAGGAATTTGATCG 0.453000 25 34 0 0 0.018920 0 0 MYBPH 4608 broad.mit.edu 37 1 203140628 203140628 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:203140628C>T ENST00000255416.4 - 5 733 c.676G>A c.(676-678)Gac>Aac p.D226N NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 226 Ig-like C2-type 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) GAGTCCTGGTCCCCGGTGCGC 0.667000 21 18 0 0 0.021523 0 0 EIF3F 8665 broad.mit.edu 37 11 8008884 8008884 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:8008884C>T ENST00000537635.1 + 1 448 c.30C>T c.(28-30)tcC>tcT p.S10S EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000533626.1_5'UTR O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 0 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTTCCGCCTCCTTCTTTCTCG 0.567000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 153 0 0 0.014410 0 0 CCBL1 883 broad.mit.edu 37 9 131600580 131600580 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:131600580G>A ENST00000436267.2 - 6 699 c.550C>T c.(550-552)Ccg>Tcg p.P184S CCBL1_ENST00000302586.3_Missense_Mutation_p.P90S|CCBL1_ENST00000320665.6_Intron|CCBL1_ENST00000483599.1_Intron Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 90 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) TTCCTGAGCGGGTCTATCTCC 0.582000 12 35 0 0 0.013537 0 0 TTLL8 164714 broad.mit.edu 37 22 50484295 50484295 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:50484295C>T ENST00000266182.6 - 5 497 c.498G>A c.(496-498)caG>caA p.Q166Q TTLL8_ENST00000440475.1_Silent_p.Q166Q tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CCAGGAACTCCTGCTGCTCAC 0.622000 5 6 0 0 0.001168 0 0 FRAS1 80144 broad.mit.edu 37 4 79188573 79188573 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:79188573T>C ENST00000264895.6 + 9 1408 c.968T>C c.(967-969)gTg>gCg p.V323A FRAS1_ENST00000325942.6_Missense_Mutation_p.V323A|FRAS1_ENST00000264899.6_Missense_Mutation_p.V323A NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 323 VWFC 5. 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 TGTGCCAAAGTGGAGTGTGCC 0.547000 5 18 0 0 0.014758 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088540 65088540 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:65088540C>T ENST00000544348.1 + 2 777 c.171C>T c.(169-171)ttC>ttT p.F57F CDC42EP2_ENST00000279249.2_Silent_p.F57F|CDC42EP2_ENST00000533419.1_Silent_p.F57F O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 57 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 ACATCTCCTTCCTGCAGGGCA 0.627000 23 62 0 0 0.004656 0 0 TIMP3 7078 broad.mit.edu 37 22 33253291 33253291 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:33253291C>T ENST00000266085.6 + 3 561 c.260C>T c.(259-261)tCc>tTc p.S87F SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron NM_000362.4 NP_000353.1 P35625 TIMP3_HUMAN TIMP metallopeptidase inhibitor 3 87 NTR. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 ACGGAAGCTTCCGAGAGTCTC 0.512000 25 84 0 0 0.010818 0 0 VTCN1 79679 broad.mit.edu 37 1 117695749 117695749 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:117695749C>T ENST00000369458.3 - 4 766 c.688G>A c.(688-690)Gac>Aac p.D230N VTCN1_ENST00000328189.3_Missense_Mutation_p.D114N|VTCN1_ENST00000539893.1_Missense_Mutation_p.D135N|VTCN1_ENST00000359008.4_Missense_Mutation_p.D233N NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 230 Ig-like V-type 2. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TTGGCAATGTCATTTTCAATC 0.388000 18 58 0 0 0.016522 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881744 228881744 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:228881744G>A ENST00000392056.3 - 7 3872 c.3826C>T c.(3826-3828)Ccg>Tcg p.P1276S SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1276S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1276 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) CTACTGACCGGCTGCACGCTT 0.507000 19 49 0 0 0.012319 0 0 CCDC83 220047 broad.mit.edu 37 11 85610023 85610023 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:85610023C>T ENST00000280245.4 + 7 1149 c.637C>T c.(637-639)Cta>Tta p.L213L CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000342404.3_Silent_p.L213L|CCDC83_ENST00000376067.1_Silent_p.L114L NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 213 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GGGCAGTTATCTAGAGATCTG 0.343000 13 32 0 0 0.004007 0 0 SPACA1 81833 broad.mit.edu 37 6 88757817 88757817 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:88757817C>T ENST00000237201.1 + 1 311 c.194C>T c.(193-195)cCt>cTt p.P65L NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 65 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 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;0.11) TACGCTCCGCCTGAAACCGAG 0.642000 4 11 0 0 0.009096 0 0 LPIN3 64900 broad.mit.edu 37 20 39986017 39986017 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:39986017C>T ENST00000373257.3 + 16 2060 c.1969C>T c.(1969-1971)Cat>Tat p.H657Y NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 657 C-LIP. 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) TGCTCTGGGCCATATCCTGCC 0.612000 19 60 0 0 0.010504 0 0 MYLK 4638 broad.mit.edu 37 3 123452773 123452773 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:123452773C>T ENST00000360772.3 - 11 1448 c.1070G>A c.(1069-1071)aGa>aAa p.R357K MYLK_ENST00000360304.3_Missense_Mutation_p.R357K|MYLK_ENST00000346322.5_Missense_Mutation_p.R357K|MYLK_ENST00000359169.1_Missense_Mutation_p.R357K|MYLK_ENST00000475616.1_Missense_Mutation_p.R357K Q15746 MYLK_HUMAN myosin light chain kinase 357 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCCTGGTGCTCTTGGTTCCGG 0.647000 40 108 0 0 0.009718 0 0 BCAN 63827 broad.mit.edu 37 1 156621324 156621324 + Silent SNP C C T rs150989682 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:156621324C>T ENST00000329117.4 + 7 1476 c.1140C>T c.(1138-1140)atC>atT p.I380I BCAN_ENST00000361588.5_Silent_p.I380I|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 380 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding p.I380M(1) 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) TAGAGGCTATCGTCACAGTGA 0.587000 34 27 0 0 0.012213 0 0 NPAT 4863 broad.mit.edu 37 11 108062855 108062855 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:108062855A>T ENST00000278612.8 - 4 385 c.280T>A c.(280-282)Tct>Act p.S94T NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 94 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) CTGATCTGAGAAAGTGTATGG 0.333000 20 61 0 0 0.018920 0 0 CBLN4 140689 broad.mit.edu 37 20 54573646 54573646 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:54573646G>A ENST00000064571.2 - 3 1873 c.573C>T c.(571-573)tcC>tcT p.S191S NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 191 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) CAGAAAACGTGGAATACTGCC 0.453000 16 36 0 0 0.006122 0 0 COL4A3 1285 broad.mit.edu 37 2 228137729 228137729 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:228137729G>A ENST00000396578.3 + 26 1985 c.1823G>A c.(1822-1824)gGa>gAa p.G608E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 608 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGGTCCCCAGGACCTGCAGGA 0.617000 19 40 0 0 0.007413 0 0 LRWD1 222229 broad.mit.edu 37 7 102106487 102106487 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:102106487C>T ENST00000292616.5 + 2 456 c.304C>T c.(304-306)Ccc>Tcc p.P102S NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 102 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GGAGGGCAACCCCTTCCTGAC 0.622000 15 24 0 0 0.020292 0 0 EHBP1 23301 broad.mit.edu 37 2 63085637 63085637 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:63085637C>T ENST00000263991.5 + 8 1213 c.731C>T c.(730-732)tCc>tTc p.S244F EHBP1_ENST00000431489.1_Intron|EHBP1_ENST00000405015.3_Intron|EHBP1_ENST00000354487.3_Intron|EHBP1_ENST00000405289.1_Intron NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 244 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TCAGCCAGTTCCTCTGAAGGT 0.408000 11 40 0 0 0.010729 0 0 SEC16A 9919 broad.mit.edu 37 9 139371356 139371356 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:139371356G>A ENST00000313050.7 - 1 785 c.712C>T c.(712-714)Ccc>Tcc p.P238S SEC16A_ENST00000431893.2_Missense_Mutation_p.P60S|SEC16A_ENST00000371706.3_Missense_Mutation_p.P60S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P60S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 60 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACCCCGCTGGGAACAGGTCCT 0.657000 7 23 0 0 0.003080 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310133 57310133 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:57310133G>A ENST00000457912.1 + 2 72 c.72G>A c.(70-72)ggG>ggA p.G24G SMTNL1_ENST00000527972.1_Silent_p.G6G|SMTNL1_ENST00000399154.2_Silent_p.G6G E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 6 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AGAAGGAAGGGAAGCTCTCTG 0.597000 6 26 0 0 0.001984 0 0 GTF3C2 2976 broad.mit.edu 37 2 27558792 27558792 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:27558792G>A ENST00000359541.2 - 9 1888 c.1459C>T c.(1459-1461)Cct>Tct p.P487S AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.P487S Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 487 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTTCCGAGGGGTGCCTGGA 0.552000 9 29 0 0 0.008291 0 0 OR2T4 127074 broad.mit.edu 37 1 248525725 248525725 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:248525725C>T ENST00000366475.1 + 1 843 c.843C>T c.(841-843)atC>atT p.I281I NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTGTGGTCATCCTCTTCTATG 0.542000 72 83 0 0 0.014410 0 0 NLRP9 338321 broad.mit.edu 37 19 56223890 56223890 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:56223890C>T ENST00000332836.2 - 7 2595 c.2568G>A c.(2566-2568)ggG>ggA p.G856G NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 856 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) TCTTCAGTTTCCCATTGCAAA 0.448000 11 41 0 0 0.010729 0 0 XIST 7503 broad.mit.edu 37 X 73068291 73068291 + RNA SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:73068291G>A ENST00000429829.1 - 0 4297 NR_001564.2 TCCCCTGCTGGAATACAAAGG 0.433000 8 9 0 0 0.003080 0 0 SPANXD 64648 broad.mit.edu 37 X 140785720 140785720 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:140785720C>T ENST00000370515.3 - 2 529 c.196G>A c.(196-198)Gaa>Aaa p.E66K NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTCACCAGTTCCTCTGGAGAT 0.458000 113 80 0 0 0.014410 0 0 ADD2 119 broad.mit.edu 37 2 70933534 70933534 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:70933534C>T ENST00000264436.3 - 3 451 c.7G>A c.(7-9)Gaa>Aaa p.E3K ADD2_ENST00000355733.3_Missense_Mutation_p.E3K|ADD2_ENST00000407644.2_Missense_Mutation_p.E3K|ADD2_ENST00000413157.2_Missense_Mutation_p.E3K|ADD2_ENST00000430656.1_Missense_Mutation_p.E19K NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 3 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 ACCGTCTCTTCGCTCATTTTC 0.617000 25 62 0 0 0.006320 0 0 VCAM1 7412 broad.mit.edu 37 1 101186048 101186048 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:101186048C>T ENST00000294728.2 + 2 182 c.81C>T c.(79-81)atC>atT p.I27I VCAM1_ENST00000370119.4_Silent_p.I27I|VCAM1_ENST00000370115.1_Silent_p.I27I|VCAM1_ENST00000347652.2_Silent_p.I27I NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 27 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.I27M(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTTTTAAAATCGAGACCACCC 0.408000 8 24 0 0 0.008291 0 0 KLHL14 57565 broad.mit.edu 37 18 30322008 30322008 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:30322008G>A ENST00000359358.4 - 3 1390 c.952C>T c.(952-954)Cgc>Tgc p.R318C KLHL14_ENST00000358095.4_Missense_Mutation_p.R318C NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 318 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TTGTTAGAGCGAATTCTTCAC 0.428000 14 31 0 0 0.004007 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33060732 33060732 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:33060732C>T ENST00000373510.4 + 4 1130 c.901C>T c.(901-903)Ctt>Ttt p.L301F RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.L301F NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 AAAGCGCCACCTTCGTTGTCA 0.468000 15 62 0 0 0.003163 0 0 UGT1A6 54578 broad.mit.edu 37 2 234602064 234602064 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:234602064C>T ENST00000305139.6 + 1 553 c.414C>T c.(412-414)ttC>ttT p.F138F UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 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;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCCTGAACTTCTTTAAGGAGA 0.488000 14 52 0 0 0.003163 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175770 140175770 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140175770G>A ENST00000526136.1 + 1 1221 c.1221G>A c.(1219-1221)ttG>ttA p.L407L PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L407L|PCDHA2_ENST00000378132.1_Silent_p.L407L NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTACTCGTTGGTGCTGGACA 0.622000 157 187 0 0 0.014410 0 0 STON2 85439 broad.mit.edu 37 14 81862472 81862472 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:81862472C>T ENST00000555447.1 - 4 551 c.139G>A c.(139-141)Gag>Aag p.E47K STON2_ENST00000267540.2_Missense_Mutation_p.E47K NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 47 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GAGGAGCTCTCGGACTGGTCT 0.577000 19 40 0 0 0.007413 0 0 XK 7504 broad.mit.edu 37 X 37586969 37586969 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:37586969G>A ENST00000378616.3 + 3 792 c.589G>A c.(589-591)Gat>Aat p.D197N TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 197 amino acid transport integral to membrane protein binding|transporter activity breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) AATCAAGTACGATGAGTATGA 0.478000 4 2 0 0 0.009096 0 0 AKAP9 10142 broad.mit.edu 37 7 91651606 91651606 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:91651606C>T ENST00000359028.2 + 14 4153 c.3928C>T c.(3928-3930)Cca>Tca p.P1310S AKAP9_ENST00000358100.2_Missense_Mutation_p.P1310S|AKAP9_ENST00000356239.3_Missense_Mutation_p.P1298S Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1310 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAAAACCTTCCAAAAGAGGA 0.338000 T BRAF papillary thyroid 18 57 0 0 0.014323 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824697 96824697 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:96824697A>T ENST00000371270.3 - 4 596 c.502T>A c.(502-504)Ttc>Atc p.F168I CYP2C8_ENST00000535898.1_Missense_Mutation_p.F66I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.F82I NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 168 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CCCAGGATGAAAGTGGGATCA 0.308000 14 30 0 0 0.004990 0 0 OBP2A 29991 broad.mit.edu 37 9 138438731 138438731 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:138438731G>A ENST00000539850.1 + 2 206 c.180G>A c.(178-180)ggG>ggA p.G60G OBP2A_ENST00000342114.4_Intron|OBP2A_ENST00000371776.1_Silent_p.G60G|OBP2A_ENST00000340780.3_Silent_p.G60G Q9NY56 OBP2A_HUMAN odorant binding protein 2A 60 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) TGGGCGGTGGGAACTTGGAAG 0.632000 10 31 0 0 0.008291 0 0 USH2A 7399 broad.mit.edu 37 1 216017672 216017672 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:216017672C>T ENST00000366943.2 - 46 9608 c.9222G>A c.(9220-9222)ctG>ctA p.L3074L USH2A_ENST00000307340.3_Silent_p.L3074L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3074 Fibronectin type-III 17. 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) ACAGGTCTCTCAGAATAAACG 0.378000 HNSCC(13;0.011) 16 18 0 0 0.008871 0 0 PTPRN 5798 broad.mit.edu 37 2 220161981 220161981 + Missense_Mutation SNP C C T rs142270672 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:220161981C>T ENST00000295718.2 - 14 2302 c.2062G>A c.(2062-2064)Gac>Aac p.D688N PTPRN_ENST00000423636.2_Missense_Mutation_p.D598N|PTPRN_ENST00000409251.3_Missense_Mutation_p.D659N NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 688 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.D688N(1) breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTGGAGATGTCCATGTTGGCT 0.657000 18 41 0 0 0.010504 0 0 PDHA2 5161 broad.mit.edu 37 4 96761632 96761632 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:96761632C>T ENST00000295266.4 + 1 394 c.331C>T c.(331-333)Cac>Tac p.H111Y NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 111 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCCCTCGGATCACGTCATTAC 0.527000 30 95 0 0 0.015359 0 0 LPHN3 23284 broad.mit.edu 37 4 62903526 62903526 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:62903526G>A ENST00000512091.1 + 23 4212 c.3465G>A c.(3463-3465)ggG>ggA p.G1155G LPHN3_ENST00000504896.1_Silent_p.G1155G|LPHN3_ENST00000545650.1_Silent_p.G1155G|LPHN3_ENST00000514591.1_Silent_p.G1155G|LPHN3_ENST00000514157.1_Silent_p.G1146G|LPHN3_ENST00000507625.1_Silent_p.G1214G|LPHN3_ENST00000506720.1_Silent_p.G1223G|LPHN3_ENST00000506700.1_Silent_p.G1146G|LPHN3_ENST00000511324.1_Silent_p.G1214G|LPHN3_ENST00000509896.1_Silent_p.G1223G|LPHN3_ENST00000506746.1_Silent_p.G1214G|LPHN3_ENST00000508946.1_Silent_p.G1155G|LPHN3_ENST00000514996.1_Silent_p.G1146G|LPHN3_ENST00000507164.1_Silent_p.G1214G|LPHN3_ENST00000508693.1_Silent_p.G1223G Q9HAR2 LPHN3_HUMAN latrophilin 3 1133 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTGGTTCAGGGAAAACATCTG 0.403000 15 39 0 0 0.004990 0 0 ADH1C 126 broad.mit.edu 37 4 100266412 100266412 + RNA SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:100266412T>A ENST00000515683.1 - 0 622 ADH1C_ENST00000510055.1_RNA 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) AAGAGCGGGATGACTTTATCA 0.343000 5 11 0 0 0.001984 0 0 OR10G8 219869 broad.mit.edu 37 11 123900864 123900864 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:123900864G>A ENST00000431524.1 + 1 568 c.535G>A c.(535-537)Gat>Aat p.D179N NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTATTTGTGTGATGCACCGCC 0.527000 30 62 0 0 0.006230 0 0 CDX4 1046 broad.mit.edu 37 X 72674248 72674248 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:72674248G>A ENST00000373514.2 + 3 682 c.682G>A c.(682-684)Gag>Aag p.E228K NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CAGAGCCAAGGAGAGAAAGAT 0.433000 7 1 0 0 0.003080 0 0 LAMA4 3910 broad.mit.edu 37 6 112471788 112471788 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:112471788C>T ENST00000230538.7 - 17 2495 c.2098G>A c.(2098-2100)Gga>Aga p.G700R LAMA4_ENST00000522006.1_Missense_Mutation_p.G693R|LAMA4_ENST00000424408.2_Missense_Mutation_p.G693R|LAMA4_ENST00000389463.4_Missense_Mutation_p.G693R NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 700 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GCTAGGGCTCCACCCACACGC 0.502000 35 50 0 0 0.017118 0 0 C15orf27 123591 broad.mit.edu 37 15 76430211 76430211 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:76430211C>T ENST00000388942.3 + 3 478 c.202C>T c.(202-204)Ctg>Ttg p.L68L NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 68 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 CCTGTCAAATCTGGACGAAGA 0.572000 19 51 0 0 0.012319 0 0 MKI67 4288 broad.mit.edu 37 10 129903931 129903931 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:129903931C>T ENST00000368654.3 - 13 6548 c.6173G>A c.(6172-6174)gGg>gAg p.G2058E MKI67_ENST00000368653.3_Missense_Mutation_p.G1698E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2058 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTCTCCATCCCAGTTCCATA 0.512000 74 189 0 0 0.014410 0 0 ZNF438 220929 broad.mit.edu 37 10 31137869 31137869 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:31137869G>A ENST00000538351.1 - 7 2072 c.1318C>T c.(1318-1320)Cct>Tct p.P440S ZNF438_ENST00000452305.1_Missense_Mutation_p.P479S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489S|ZNF438_ENST00000361310.3_Missense_Mutation_p.P489S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479S|ZNF438_ENST00000375311.1_Missense_Mutation_p.P53S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489S NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CTGGGCTTAGGGGAAGAGCTG 0.473000 42 99 0 0 0.007835 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561083 44561083 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:44561083C>T ENST00000332567.4 - 1 905 c.553G>A c.(553-555)Gag>Aag p.E185K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 185 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 GCAGCGGGCTCAGGGCCCTCG 0.692000 23 41 0 0 0.016522 0 0 TXNDC16 57544 broad.mit.edu 37 14 52899126 52899126 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:52899126T>A ENST00000281741.4 - 21 2745 c.2374A>T c.(2374-2376)Att>Ttt p.I792F NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 792 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) AGAGTTTCAATCGGTTCTTTT 0.363000 18 45 0 0 0.006122 0 0 HEATR5A 25938 broad.mit.edu 37 14 31852855 31852855 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:31852855G>A ENST00000543095.2 - 10 1652 c.1468C>T c.(1468-1470)Cgt>Tgt p.R490C HEATR5A_ENST00000439727.1_Missense_Mutation_p.R197C|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R484C|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R490C|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R484C NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 484 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TCAAGGCAACGATCCAAGAGT 0.468000 36 104 0 0 0.009718 0 0 AVPR1B 553 broad.mit.edu 37 1 206224806 206224806 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:206224806C>T ENST00000367126.4 + 1 831 c.366C>T c.(364-366)acC>acT p.T122T NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 122 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTGCCTCCACCTACATGCTGC 0.642000 27 74 0 0 0.009535 0 0 KIF19 124602 broad.mit.edu 37 17 72346585 72346585 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:72346585G>A ENST00000389916.4 + 11 1397 c.1259G>A c.(1258-1260)gGa>gAa p.G420E NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 420 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCTGGCATGGGACAGCTTCGG 0.642000 4 11 0 0 0.009096 0 0 LLGL1 3996 broad.mit.edu 37 17 18137373 18137373 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:18137373T>G ENST00000316843.4 + 6 694 c.598T>G c.(598-600)Tca>Gca p.S200A NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 200 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) CCCCGTGGAGTCACTCCAGGG 0.632000 9 9 0 0 0.004482 0 0 SPANXN3 139067 broad.mit.edu 37 X 142596803 142596803 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:142596803T>C ENST00000370503.2 - 2 350 c.267A>G c.(265-267)gtA>gtG p.V89V GS1-256O22.5_ENST00000431432.1_RNA NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 89 V -> I (in dbSNP:rs5953851). endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) CAGATAAGTCTACGCCTTCGT 0.438000 31 19 0 0 0.010818 0 0 WDR88 126248 broad.mit.edu 37 19 33639710 33639710 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:33639710C>T ENST00000361680.2 + 5 651 c.573C>T c.(571-573)tcC>tcT p.S191S WDR88_ENST00000592765.1_3'UTR|WDR88_ENST00000355868.3_Silent_p.S191S Q6ZMY6 WDR88_HUMAN WD repeat domain 88 191 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TCATCGTCTCCTGTAAGTTTT 0.468000 28 104 0 0 0.006320 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35906721 35906721 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:35906721C>T ENST00000325722.3 - 20 3123 c.2889G>A c.(2887-2889)aaG>aaA p.K963K KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.K400K NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 963 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGCTTTTCCTCTTGGGTTTTC 0.552000 22 113 0 0 0.006320 0 0 TTN 7273 broad.mit.edu 37 2 179545055 179545055 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179545055G>A ENST00000589042.1 - 139 33568 c.33344C>T c.(33343-33345)cCc>cTc p.P11115L TTN_ENST00000591111.1_Missense_Mutation_p.P10798L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9871L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10798 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) GGGCTTCATGGGCACTTGAAA 0.393000 23 60 0 0 0.005443 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630007 9630007 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:9630007G>A ENST00000382492.2 - 1 456 c.138C>T c.(136-138)ctC>ctT p.L46L CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 46 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AAGAAAGAAGGAGATCCAGCG 0.383000 11 39 0 0 0.013537 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862158 25862158 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:25862158C>T ENST00000397060.4 - 4 512 c.403G>A c.(403-405)Gga>Aga p.G135R SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 277 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 CCTACTCTTCCAGCCAGGTAT 0.483000 5 12 0 0 0.001168 0 0 CARD9 64170 broad.mit.edu 37 9 139265382 139265382 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:139265382C>T ENST00000371732.5 - 4 703 c.538G>A c.(538-540)Gag>Aag p.E180K CARD9_ENST00000315908.7_Missense_Mutation_p.E180K|CARD9_ENST00000371734.3_Missense_Mutation_p.E180K NM_052813.4 NP_434700.2 Q9H257 CARD9_HUMAN caspase recruitment domain family, member 9 180 positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis cytoplasm CARD domain binding|protein homodimerization activity endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1) 15 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06) TAGTTCTCCTCCTTGCAGCGC 0.682000 7 11 0 0 0.003080 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938061 116938061 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:116938061C>T ENST00000229554.5 + 1 412 c.275C>T c.(274-276)tCc>tTc p.S92F RSPH4A_ENST00000368580.4_Missense_Mutation_p.S92F|RSPH4A_ENST00000368581.4_Missense_Mutation_p.S92F NM_001010892.2 NP_001010892.1 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A (Chlamydomonas) 92 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GAGCCCTCTTCCTCTCCTTCT 0.632000 Kartagener syndrome 15 36 0 0 0.003163 0 0 HCN3 57657 broad.mit.edu 37 1 155257581 155257581 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:155257581A>G ENST00000368358.3 + 8 1660 c.1652A>G c.(1651-1653)aAt>aGt p.N551S HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 551 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) GGCAAGAAGAATTCCATACTG 0.512000 68 64 0 0 0.014410 0 0 NCOA6 23054 broad.mit.edu 37 20 33328820 33328820 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:33328820G>A ENST00000374796.2 - 12 7810 c.5240C>T c.(5239-5241)cCt>cTt p.P1747L NCOA6_ENST00000359003.2_Missense_Mutation_p.P1747L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1747 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 AGACGTACAAGGAGGGGAAGG 0.542000 15 63 0 0 0.020292 0 0 VPS13B 157680 broad.mit.edu 37 8 100887878 100887878 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:100887878G>A ENST00000358544.2 + 62 12164 c.12053G>A c.(12052-12054)aGg>aAg p.R4018K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R3993K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 4018 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAAGCCCTGAGGAAAGGGTTT 0.443000 13 53 0 0 0.003163 0 0 WDR19 57728 broad.mit.edu 37 4 39276558 39276558 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:39276558G>A ENST00000399820.3 + 33 3850 c.3696G>A c.(3694-3696)aaG>aaA p.K1232K WDR19_ENST00000288634.7_Silent_p.K1072K NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1232 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AATACAAAAAGAAGATCGAGG 0.443000 16 25 0 0 0.004007 0 0 FNDC3B 64778 broad.mit.edu 37 3 172061888 172061888 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:172061888C>T ENST00000336824.4 + 19 2189 c.2090C>T c.(2089-2091)tCg>tTg p.S697L FNDC3B_ENST00000416957.1_Missense_Mutation_p.S697L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S697L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 697 Fibronectin type-III 5. endoplasmic reticulum|integral to membrane p.S697L(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GTTCCTGCATCGGAAAGTGGC 0.493000 25 87 0 0 0.021523 0 0 ANK3 288 broad.mit.edu 37 10 61819137 61819137 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:61819137C>T ENST00000280772.1 - 41 12838 c.12647G>A c.(12646-12648)cGa>cAa p.R4216Q ANK3_ENST00000373827.2_Missense_Mutation_p.R1700Q|ANK3_ENST00000503366.1_Missense_Mutation_p.R1707Q|ANK3_ENST00000355288.2_Missense_Mutation_p.R840Q|RP11-388P9.2_ENST00000414383.1_RNA NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4216 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 AGTTACTCTTCGAGCTTGAGC 0.408000 24 65 0 0 0.006320 0 0 EVI5L 115704 broad.mit.edu 37 19 7916645 7916645 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:7916645G>A ENST00000270530.4 + 8 1172 c.976G>A c.(976-978)Ggg>Agg p.G326R EVI5L_ENST00000538904.2_Missense_Mutation_p.G326R NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 326 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GGACATGGAGGGGATGTCCCA 0.667000 5 15 0 0 0.014758 0 0 VCAM1 7412 broad.mit.edu 37 1 101186267 101186267 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:101186267A>G ENST00000294728.2 + 2 401 c.300A>G c.(298-300)gaA>gaG p.E100E VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Silent_p.E100E|VCAM1_ENST00000347652.2_Silent_p.E100E NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 100 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding 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) CAACTTGTGAATCTAGGAAAT 0.383000 7 7 0 0 0.001984 0 0 MYO7A 4647 broad.mit.edu 37 11 76885844 76885844 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:76885844G>A ENST00000409709.3 + 17 2250 c.1978G>A c.(1978-1980)Gga>Aga p.G660R MYO7A_ENST00000409619.2_Missense_Mutation_p.G649R|MYO7A_ENST00000458637.2_Missense_Mutation_p.G660R|MYO7A_ENST00000409893.1_Missense_Mutation_p.G660R NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 660 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCGGTACTCAGGAATGATGGA 0.632000 7 15 0 0 0.001984 0 0 HDGF 3068 broad.mit.edu 37 1 156714925 156714925 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:156714925G>A ENST00000357325.5 - 3 492 c.178C>T c.(178-180)Ccc>Tcc p.P60S HDGF_ENST00000368209.5_Missense_Mutation_p.P53S|HDGF_ENST00000537739.1_Missense_Mutation_p.P60S|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.P28S|HDGF_ENST00000368206.5_Missense_Mutation_p.P76S NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 60 PWWP. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) AGGTCTTTGGGGCCCAGGAAT 0.587000 26 33 0 0 0.005443 0 0 ROBO2 6092 broad.mit.edu 37 3 75986676 75986676 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:75986676G>A ENST00000487694.3 + 2 311 c.32G>A c.(31-33)aGg>aAg p.R11K NM_001128929.2 NP_001122401.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 0 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GTCACTAGAAGGATGTGGACA 0.438000 3 15 0 0 0.009096 0 0 RNF17 56163 broad.mit.edu 37 13 25451191 25451191 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:25451191T>G ENST00000255324.5 + 34 4692 c.4640T>G c.(4639-4641)cTc>cGc p.L1547R RNF17_ENST00000339524.3_Missense_Mutation_p.L557R|RNF17_ENST00000381921.1_Missense_Mutation_p.L1505R NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1547 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATAAAGGTTCTCTTGGCAGGG 0.443000 15 39 0 0 0.010504 0 0 IHH 3549 broad.mit.edu 37 2 219920370 219920370 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:219920370G>A ENST00000295731.5 - 3 794 c.795C>T c.(793-795)ccC>ccT p.P265P NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog 265 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCGGCGTGGGGGGTCCTGAG 0.647000 12 22 0 0 0.013537 0 0 HRG 3273 broad.mit.edu 37 3 186394924 186394924 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:186394924C>T ENST00000232003.4 + 7 910 c.830C>T c.(829-831)cCa>cTa p.P277L NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 277 Pro-rich. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) ACCAAGCCTCCATTCAAGCCC 0.527000 22 77 0 0 0.014323 0 0 CILP2 148113 broad.mit.edu 37 19 19656395 19656395 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:19656395C>T ENST00000586018.1 + 8 3161 c.3059C>T c.(3058-3060)cCc>cTc p.P1020L CILP2_ENST00000291495.4_Missense_Mutation_p.P1014L Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1014 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 ACCATTATGCCCCAGGGCAGC 0.697000 6 7 0 0 0.001984 0 0 HMCN1 83872 broad.mit.edu 37 1 185976275 185976275 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:185976275C>T ENST00000271588.4 + 30 4720 c.4491C>T c.(4489-4491)ggC>ggT p.G1497G HMCN1_ENST00000367492.2_Silent_p.G1497G NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1497 Ig-like C2-type 12. 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 TATTTTTGGGCGATCCTAATG 0.353000 4 17 0 0 0.009096 0 0 NOS1 4842 broad.mit.edu 37 12 117768500 117768500 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:117768500G>A ENST00000317775.6 - 2 1060 c.375C>T c.(373-375)ccC>ccT p.P125P NOS1_ENST00000338101.4_Silent_p.P125P|NOS1_ENST00000344089.3_Silent_p.P125P NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 125 Interaction with NOSIP (By similarity). 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) GGGGACCCAGGGGCTGTGTCA 0.652000 18 61 0 0 0.006122 0 0 HYDIN 54768 broad.mit.edu 37 16 70852320 70852320 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:70852320C>T ENST00000393567.2 - 84 14733 c.14583G>A c.(14581-14583)tcG>tcA p.S4861S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4861 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) AGAAGGTCACCGAGTAGGGCA 0.617000 7 17 0 0 0.008291 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20517359 20517359 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:20517359G>A ENST00000202677.6 - 25 3497 c.3355C>T c.(3355-3357)Cct>Tct p.P1119S NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1119 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TGCAGTAAAGGAATCTCCTGG 0.458000 5 22 0 0 0.014758 0 0 FAM134C 162427 broad.mit.edu 37 17 40734029 40734029 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:40734029G>A ENST00000309428.5 - 9 1262 c.1203C>T c.(1201-1203)gtC>gtT p.V401V FAM134C_ENST00000585894.1_Silent_p.V304V|FAM134C_ENST00000543197.1_Silent_p.V206V NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 401 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) TACCCTGGGAGACCAGGCTGG 0.652000 39 52 0 0 0.006230 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229539 8229539 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:8229539C>T ENST00000539824.1 + 12 2264 c.1890C>T c.(1888-1890)ctC>ctT p.L630L SH3TC1_ENST00000245105.3_Silent_p.L706L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 706 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CCGCGTGGCTCTCAGACTGCT 0.652000 18 52 0 0 0.006122 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77493062 77493062 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:77493062G>A ENST00000238647.3 - 1 1972 c.1074C>T c.(1072-1074)agC>agT p.S358S NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 358 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GCAGGCTCTCGCTCAGCTCGG 0.682000 9 25 0 0 0.008291 0 0 ROS1 6098 broad.mit.edu 37 6 117709079 117709079 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:117709079G>A ENST00000368508.3 - 13 2076 c.1878C>T c.(1876-1878)ttC>ttT p.F626F GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.F621F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 626 Fibronectin type-III 3. 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) TTATGTTCAAGAAAATATGAG 0.453000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 31 49 0 0 0.010818 0 0 TLDC2 140711 broad.mit.edu 37 20 35507531 35507531 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:35507531C>T ENST00000217320.3 + 3 321 c.277C>T c.(277-279)Ctg>Ttg p.L93L TLDC2_ENST00000602922.1_Silent_p.L93L NM_080628.1 NP_542195.1 TBC/LysM-associated domain containing 2 CCTGCAGAGCCTGTACCGGCG 0.662000 19 72 0 0 0.008871 0 0 NCAPH2 29781 broad.mit.edu 37 22 50957150 50957150 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:50957150C>T ENST00000395701.3 + 8 813 c.719C>T c.(718-720)tCc>tTc p.S240F NCAPH2_ENST00000299821.11_Missense_Mutation_p.S240F|NCAPH2_ENST00000395698.3_Missense_Mutation_p.S240F|NCAPH2_ENST00000420993.2_Missense_Mutation_p.S240F Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 240 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CTCGGCTTCTCCCAGGAGCCA 0.642000 6 6 0 0 0.003080 0 0 F13B 2165 broad.mit.edu 37 1 197030188 197030188 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:197030188C>G ENST00000367412.1 - 4 512 c.469G>C c.(469-471)Gaa>Caa p.E157Q NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 157 Sushi 3. 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 TTATATAATTCAGGAGCCAAA 0.269000 3 13 0 0 0.004672 0 0 TXK 7294 broad.mit.edu 37 4 48073661 48073661 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:48073661C>T ENST00000264316.4 - 14 1473 c.1388G>A c.(1387-1389)gGa>gAa p.G463E TXK_ENST00000507351.1_Missense_Mutation_p.G118E NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 463 Protein kinase. 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 AGGCATTTTTCCTTCTGTAAA 0.383000 22 87 0 0 0.014323 0 0 C1orf173 127254 broad.mit.edu 37 1 75037636 75037636 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:75037636C>T ENST00000326665.5 - 14 3976 c.3758G>A c.(3757-3759)gGa>gAa p.G1253E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1253 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 CCCCTCCAGTCCTGCGCAGGA 0.592000 24 67 0 0 0.016522 0 0 TRPM8 79054 broad.mit.edu 37 2 234858746 234858746 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:234858746G>A ENST00000324695.4 + 9 1136 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M TRPM8_ENST00000433712.2_Missense_Mutation_p.V54M|AC005538.5_ENST00000455991.1_RNA NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 366 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ACCCCGCACGGTGTCCCGGCT 0.557000 8 20 0 0 0.003080 0 0 ARFIP1 27236 broad.mit.edu 37 4 153802227 153802227 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:153802227T>C ENST00000451320.2 + 6 688 c.524T>C c.(523-525)aTt>aCt p.I175T ARFIP1_ENST00000405727.2_Missense_Mutation_p.I143T|ARFIP1_ENST00000356064.3_Missense_Mutation_p.I143T|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000353617.2_Missense_Mutation_p.I175T P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 175 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ARFIP1/FHDC1(2) cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(180;0.093) TATGAAAATATTTTAAAACTG 0.393000 7 24 0 0 0.003080 0 0 SMYD1 150572 broad.mit.edu 37 2 88409921 88409921 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:88409921G>A ENST00000419482.2 + 10 1448 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K SMYD1_ENST00000444564.2_Missense_Mutation_p.E442K|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 CCGCCAGAACGAATTCATGTA 0.567000 5 12 0 0 0.014758 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43769915 43769915 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:43769915C>T ENST00000389420.3 - 35 5256 c.5257G>A c.(5257-5259)Gaa>Aaa p.E1753K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1753 GON. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTAAATATTCCTTAGGGTTC 0.338000 5 6 0 0 0.014758 0 0 ATP13A4 84239 broad.mit.edu 37 3 193174929 193174929 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:193174929C>T ENST00000342695.4 - 16 2097 c.1775G>A c.(1774-1776)gGa>gAa p.G592E ATP13A4_ENST00000392443.3_Missense_Mutation_p.G573E NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 592 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) GATTGCAATTCCTTCCACTGG 0.473000 28 63 0 0 0.019004 0 0 OR2D2 120776 broad.mit.edu 37 11 6913605 6913605 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:6913605G>A ENST00000299459.2 - 1 225 c.127C>T c.(127-129)Ctg>Ttg p.L43L NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATTAGAAGCAGATTTCCAAGC 0.463000 6 3 0 0 0.001168 0 0 ANK3 288 broad.mit.edu 37 10 61831012 61831012 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:61831012C>T ENST00000280772.1 - 37 9818 c.9627G>A c.(9625-9627)gaG>gaA p.E3209E ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3209 Poly-Glu. 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 CCTGTTCCTCCTCCTCTGACT 0.468000 16 34 0 0 0.003163 0 0 CCDC27 148870 broad.mit.edu 37 1 3669103 3669103 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:3669103G>A ENST00000294600.2 + 1 142 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 20 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AGATCCACGGGAAAAGCCGGG 0.572000 21 24 0 0 0.018920 0 0 THAP4 51078 broad.mit.edu 37 2 242572592 242572592 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:242572592G>A ENST00000407315.1 - 2 1411 c.980C>T c.(979-981)tCc>tTc p.S327F NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 327 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CTCGTTGATGGACATGGGGCT 0.642000 19 44 0 0 0.006122 0 0 FPR2 2358 broad.mit.edu 37 19 52272088 52272088 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:52272088C>T ENST00000598776.1 + 2 949 c.177C>T c.(175-177)gtC>gtT p.V59V FPR2_ENST00000340023.6_Silent_p.V59V|FPR2_ENST00000598953.1_Silent_p.V59V NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 59 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CACGCACAGTCACCACCATCT 0.552000 34 64 0 0 0.019004 0 0 RNF217 154214 broad.mit.edu 37 6 125397990 125397990 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:125397990G>A ENST00000521654.2 + 4 1469 c.1469G>A c.(1468-1470)cGa>cAa p.R490Q RNF217_ENST00000275184.6_Missense_Mutation_p.R134Q|RNF217_ENST00000560949.1_Missense_Mutation_p.R255Q|RNF217_ENST00000368414.2_Missense_Mutation_p.R52Q|RNF217_ENST00000359704.2_Missense_Mutation_p.R198Q Q8TC41 RN217_HUMAN ring finger protein 217 198 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0162) AGATTAGTGCGAGGGTCAGTC 0.443000 5 11 0 0 0.001984 0 0 TRPM3 80036 broad.mit.edu 37 9 73151069 73151069 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:73151069C>T ENST00000377110.2 - 25 5167 c.4924G>A c.(4924-4926)Gag>Aag p.E1642K TRPM3_ENST00000360823.2_Missense_Mutation_p.E1504K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1514K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1669K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1501K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1491K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1514K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1501K|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1646K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1501K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1504K NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1667 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCACTTGGCTCCTCTGCCGAG 0.537000 122 327 0 0 0.014410 0 0 KIF2B 84643 broad.mit.edu 37 17 51900694 51900694 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:51900694G>A ENST00000268919.4 + 1 456 c.300G>A c.(298-300)ctG>ctA p.L100L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 100 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 CCTTGGCTCTGGCGCCCTCTT 0.592000 83 131 0 0 0.014410 0 0 ADCY10 55811 broad.mit.edu 37 1 167830287 167830287 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:167830287G>A ENST00000367848.1 - 15 1852 c.1355C>T c.(1354-1356)tCa>tTa p.S452L ADCY10_ENST00000367851.4_Missense_Mutation_p.S544L|ADCY10_ENST00000545172.1_Missense_Mutation_p.S391L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 544 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTTATTCAATGAAATGGCAAT 0.333000 11 47 0 0 0.008291 0 0 HTR3E 285242 broad.mit.edu 37 3 183823660 183823660 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:183823660G>A ENST00000415389.2 + 7 1294 c.828G>A c.(826-828)ggG>ggA p.G276G HTR3E_ENST00000335304.2_Silent_p.G291G|HTR3E_ENST00000436361.2_Silent_p.G276G|HTR3E_ENST00000425359.2_Silent_p.G261G|HTR3E_ENST00000440596.2_Silent_p.G302G NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 276 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGAAAAGTGGGAATCGTGTCC 0.552000 23 93 0 0 0.014323 0 0 DUSP12 11266 broad.mit.edu 37 1 161723034 161723034 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:161723034G>A ENST00000367943.4 + 5 876 c.844G>A c.(844-846)Gga>Aga p.G282R DUSP12_ENST00000484291.1_3'UTR NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 282 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TGCTTTGTTGGGAGTGATGGA 0.353000 38 57 0 0 0.005524 0 0 TCP11 6954 broad.mit.edu 37 6 35088743 35088743 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:35088743C>T ENST00000311875.5 - 6 1114 c.697G>A c.(697-699)Gaa>Aaa p.E233K TCP11_ENST00000418521.2_Missense_Mutation_p.E157K|TCP11_ENST00000444780.2_Missense_Mutation_p.E228K|TCP11_ENST00000244645.3_Missense_Mutation_p.E158K|TCP11_ENST00000373979.2_Missense_Mutation_p.E158K|TCP11_ENST00000373974.4_Missense_Mutation_p.E187K|TCP11_ENST00000512012.1_Missense_Mutation_p.E220K|TCP11_ENST00000412155.2_Missense_Mutation_p.E182K Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 220 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 ATGGAATGTTCCTGCAGGTGG 0.478000 76 210 0 0 0.014410 0 0 TMOD2 29767 broad.mit.edu 37 15 52065922 52065922 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:52065922C>T ENST00000249700.4 + 4 518 c.297C>T c.(295-297)atC>atT p.I99I TMOD2_ENST00000539962.2_Silent_p.I55I|TMOD2_ENST00000435126.2_Silent_p.I99I NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 99 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) GAGTCTTTATCCCTAAAGAAA 0.418000 18 37 0 0 0.008871 0 0 GPR174 84636 broad.mit.edu 37 X 78426957 78426957 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:78426957C>T ENST00000276077.1 + 1 489 c.453C>T c.(451-453)ctC>ctT p.L151L NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 151 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CCTGTGTACTCTTTCCACTCC 0.483000 HNSCC(63;0.18) 13 4 0 0 0.016723 0 0 MMRN1 22915 broad.mit.edu 37 4 90830522 90830522 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:90830522G>A ENST00000394980.1 + 3 1038 c.719G>A c.(718-720)tGg>tAg p.W240* MMRN1_ENST00000508372.1_5'UTR|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.W240*|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.W206* Q13201 MMRN1_HUMAN multimerin 1 240 EMI. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CCTTGTGGCTGGACCGGTGGA 0.413000 2 1 0 0 0.004672 0 0 ACAN 176 broad.mit.edu 37 15 89384991 89384991 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:89384991G>A ENST00000439576.2 + 5 1024 c.650G>A c.(649-651)cGg>cAg p.R217Q ACAN_ENST00000561243.1_Missense_Mutation_p.R217Q|ACAN_ENST00000559004.1_Missense_Mutation_p.R217Q|ACAN_ENST00000558207.1_Missense_Mutation_p.R217Q|ACAN_ENST00000352105.7_Missense_Mutation_p.R217Q NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 217 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACACTCCCCGGGAAGGCTGC 0.567000 23 68 0 0 0.004656 0 0 FCGBP 8857 broad.mit.edu 37 19 40408560 40408560 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:40408560G>A ENST00000221347.6 - 8 4286 c.4279C>T c.(4279-4281)Ccc>Tcc p.P1427S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1427 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGGCAGGGAGAGTCGGGC 0.627000 17 37 0 0 0.004007 0 0 SEPT9 10801 broad.mit.edu 37 17 75471897 75471897 + Silent SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:75471897T>G ENST00000427180.1 + 1 573 c.297T>G c.(295-297)cgT>cgG p.R99R SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000592951.1_Intron NM_001113495.1 NP_001106967.1 Q9UHD8 SEPT9_HUMAN septin 9 0 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) TCCCCTGCCGTGGCCTGGTCA 0.642000 59 53 0 0 0.014410 0 0 OBP2A 29991 broad.mit.edu 37 9 138439043 138439043 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:138439043C>T ENST00000539850.1 + 3 252 c.226C>T c.(226-228)Cag>Tag p.Q76* OBP2A_ENST00000342114.4_Missense_Mutation_p.P31L|OBP2A_ENST00000371776.1_Nonsense_Mutation_p.Q76*|OBP2A_ENST00000340780.3_Nonsense_Mutation_p.Q76* Q9NY56 OBP2A_HUMAN odorant binding protein 2A 76 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) TCGGTGCATCCAGAAGAAAAT 0.637000 13 57 0 0 0.020292 0 0 SLC9C1 285335 broad.mit.edu 37 3 111898498 111898498 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:111898498C>T ENST00000305815.5 - 23 3051 c.2799G>A c.(2797-2799)aaG>aaA p.K933K SLC9C1_ENST00000487372.1_Silent_p.K885K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 933 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity AATCTTTCTCCTTTGACTCCA 0.348000 13 23 0 0 0.020292 0 0 AFTPH 54812 broad.mit.edu 37 2 64794825 64794825 + Silent SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:64794825A>C ENST00000422803.1 + 3 2379 c.2065A>C c.(2065-2067)Aga>Cga p.R689R AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Silent_p.R689R|AFTPH_ENST00000409933.1_Silent_p.R689R|AFTPH_ENST00000238855.7_Silent_p.R689R|AFTPH_ENST00000409183.1_Silent_p.R320R Q6ULP2 AFTIN_HUMAN aftiphilin 689 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 AATAAAAACGAGAGAGGCCTT 0.368000 12 36 0 0 0.004007 0 0 NUTM1 256646 broad.mit.edu 37 15 34648236 34648236 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:34648236G>A ENST00000537011.1 + 8 2409 c.2027G>A c.(2026-2028)gGa>gAa p.G676E NUTM1_ENST00000333756.4_Missense_Mutation_p.G648E|NUTM1_ENST00000438749.3_Missense_Mutation_p.G666E NUT midline carcinoma, family member 1 CCTCTGCAAGGACAAGGGTTA 0.562000 16 46 0 0 0.004990 0 0 BTBD9 114781 broad.mit.edu 37 6 38142888 38142888 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:38142888G>A ENST00000481247.1 - 11 1863 c.1712C>T c.(1711-1713)tCg>tTg p.S571L BTBD9_ENST00000419706.2_Missense_Mutation_p.S541L|BTBD9_ENST00000403056.1_Missense_Mutation_p.S571L|BTBD9_ENST00000314100.6_Missense_Mutation_p.S503L|BTBD9_ENST00000408958.1_Missense_Mutation_p.S503L NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 571 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CCCTGTCCCCGATTCCTCACT 0.597000 20 85 0 0 0.010504 0 0 C1orf210 149466 broad.mit.edu 37 1 43748742 43748742 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:43748742G>A ENST00000523677.1 - 3 289 c.56C>T c.(55-57)gCt>gTt p.A19V C1orf210_ENST00000423420.1_Missense_Mutation_p.A19V NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 19 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGGGCCACAGCAGACGCTGT 0.637000 15 24 0 0 0.004007 0 0 TGM4 7047 broad.mit.edu 37 3 44945382 44945382 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:44945382C>T ENST00000296125.4 + 9 1046 c.978C>T c.(976-978)ttC>ttT p.F326F NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 326 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.F326L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GCAGGAATTTCCATGTGTGGA 0.592000 39 111 0 0 0.010771 0 0 GEM 2669 broad.mit.edu 37 8 95264409 95264409 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:95264409C>T ENST00000297596.2 - 4 715 c.451G>A c.(451-453)Gac>Aac p.D151N GEM_ENST00000396194.2_Missense_Mutation_p.D151N NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 151 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) AGGTATGCGTCCCCGACCTGC 0.522000 28 42 0 0 0.008361 0 0 PAK7 57144 broad.mit.edu 37 20 9546738 9546738 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:9546738G>A ENST00000378429.3 - 6 1830 c.1284C>T c.(1282-1284)tcC>tcT p.S428S PAK7_ENST00000378423.1_Silent_p.S428S|PAK7_ENST00000353224.5_Silent_p.S428S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 428 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ACTGTTCATGGGACACCCTGG 0.632000 23 46 0 0 0.016522 0 0 CD163L1 283316 broad.mit.edu 37 12 7585262 7585262 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:7585262G>A ENST00000313599.3 - 4 573 c.516C>T c.(514-516)ttC>ttT p.F172F CD163L1_ENST00000416109.2_Silent_p.F182F|CD163L1_ENST00000396630.1_Silent_p.F172F Q9NR16 C163B_HUMAN CD163 molecule-like 1 172 SRCR 2. 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 ACCTTTCTTGGAATTTCACCT 0.453000 17 32 0 0 0.007413 0 0 MKLN1 4289 broad.mit.edu 37 7 131060250 131060250 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:131060250C>G ENST00000352689.6 + 2 206 c.166C>G c.(166-168)Cag>Gag p.Q56E MKLN1_ENST00000421797.2_5'UTR|MKLN1_ENST00000429546.1_5'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 56 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) CTATCCTCCCCAGGTAAGATT 0.323000 14 31 0 0 0.006122 0 0 TRPC5 7224 broad.mit.edu 37 X 111090650 111090650 + Silent SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:111090650A>T ENST00000262839.2 - 6 2310 c.1392T>A c.(1390-1392)cgT>cgA p.R464R NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 464 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCTCCCTTGGACGAGAACCAT 0.428000 10 5 0 0 0.006214 0 0 FAM71B 153745 broad.mit.edu 37 5 156590543 156590543 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:156590543C>T ENST00000302938.4 - 2 828 c.733G>A c.(733-735)Gct>Act p.A245T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 245 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCGCACTAGCCGTTCCGTGG 0.587000 179 186 0 0 0.014410 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756493 94756493 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:94756493C>T ENST00000554723.1 - 2 976 c.558G>A c.(556-558)aaG>aaA p.K186K SERPINA10_ENST00000554173.1_Silent_p.K146K|SERPINA10_ENST00000261994.4_Silent_p.K146K|SERPINA10_ENST00000393096.1_Silent_p.K146K Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 146 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CTCTGAGTCCCTTAAAGAGGG 0.572000 20 62 0 0 0.010504 0 0 KCNB2 9312 broad.mit.edu 37 8 73848248 73848248 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:73848248G>A ENST00000523207.1 + 3 1246 c.658G>A c.(658-660)Gaa>Aaa p.E220K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 220 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) GGAGCTGCAGGAAACGGACGA 0.473000 13 172 0 0 0.013537 0 0 OR2T6 254879 broad.mit.edu 37 1 248551338 248551338 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:248551338G>A ENST00000355728.2 + 1 429 c.429G>A c.(427-429)atG>atA p.M143I NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTGCTGGATGATCCTGGCCA 0.562000 8 52 0 0 0.006214 0 0 KLK11 11012 broad.mit.edu 37 19 51530734 51530734 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:51530734C>T ENST00000594768.1 - 1 225 c.40G>A c.(40-42)Ggc>Agc p.G14S KLK11_ENST00000391804.3_Intron|KLK11_ENST00000319720.7_Intron NM_144947.1 NP_659196.1 Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 14 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) AGACCTCTGCCCGATGACTTC 0.617000 45 122 0 0 0.014410 0 0 FAM47A 158724 broad.mit.edu 37 X 34148746 34148746 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:34148746A>G ENST00000346193.3 - 1 1701 c.1650T>C c.(1648-1650)agT>agC p.S550S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 550 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACACCCGACGACTCTTGGGAA 0.607000 20 19 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179604872 179604872 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179604872G>A ENST00000589042.1 - 48 13312 c.13088C>T c.(13087-13089)cCc>cTc p.P4363L TTN_ENST00000591111.1_Missense_Mutation_p.P4046L|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4125L|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P4192L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4000L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4046 Ig-like 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATTGCCACGGGCTCTCTTTT 0.448000 5 17 0 0 0.014758 0 0 PIGL 9487 broad.mit.edu 37 17 16120544 16120544 + Missense_Mutation SNP G G A rs150000731 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:16120544G>A ENST00000225609.5 + 1 21 c.4G>A c.(4-6)Gaa>Aaa p.E2K PIGL_ENST00000395844.3_Missense_Mutation_p.E2K|PIGL_ENST00000498772.2_Missense_Mutation_p.E2K|PIGL_ENST00000581006.1_Missense_Mutation_p.E2K NM_004278.3 NP_004269.1 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, class L 2 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) ACCCATCATGGAAGCAATGTG 0.587000 17 25 0 0 0.004990 0 0 SIAH3 283514 broad.mit.edu 37 13 46357632 46357632 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:46357632C>T ENST00000400405.2 - 2 802 c.696G>A c.(694-696)ggG>ggA p.G232G NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 232 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 CGAGGCAGTCCCCGTCCGTAA 0.612000 15 62 0 0 0.007413 0 0 ZNF821 55565 broad.mit.edu 37 16 71894513 71894513 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:71894513G>A ENST00000425432.1 - 8 1026 c.647C>T c.(646-648)tCc>tTc p.S216F ZNF821_ENST00000564134.1_3'UTR|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000446827.2_Missense_Mutation_p.S174F|ZNF821_ENST00000565601.1_Missense_Mutation_p.S216F|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.S174F NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 CTCAGCACTGGAGGGACCCTC 0.473000 30 57 0 0 0.009535 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793478 21793478 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:21793478G>A ENST00000206660.6 + 15 2303 c.2303G>A c.(2302-2304)cGa>cAa p.R768Q RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R127Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R730Q|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R768Q|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 768 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGCAATAAACGAAAGAAAGCC 0.542000 4 15 0 0 0.009096 0 0 KCNA6 3742 broad.mit.edu 37 12 4919931 4919931 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:4919931G>A ENST00000433855.1 + 1 1590 c.724G>A c.(724-726)Gaa>Aaa p.E242K KCNA6_ENST00000280684.3_Missense_Mutation_p.E242K NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 242 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 CACCCCTGGGGAAATGGGGAC 0.557000 HNSCC(72;0.22) 33 94 0 0 0.017118 0 0 ZNF536 9745 broad.mit.edu 37 19 31040064 31040064 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:31040064G>A ENST00000355537.3 + 4 3685 c.3538G>A c.(3538-3540)Gaa>Aaa p.E1180K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1180 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) GAACAACGATGAAGAGGATGT 0.552000 19 49 0 0 0.008871 0 0 CDH20 28316 broad.mit.edu 37 18 59221766 59221766 + Nonsense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:59221766T>A ENST00000262717.4 + 12 2642 c.2244T>A c.(2242-2244)taT>taA p.Y748* CDH20_ENST00000536675.2_Nonsense_Mutation_p.Y748*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.Y748* Q9HBT6 CAD20_HUMAN cadherin 20, type 2 748 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TCCAGACGTATATGTTCGAGG 0.647000 9 21 0 0 0.004482 0 0 MSR1 4481 broad.mit.edu 37 8 16032717 16032717 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:16032717G>A ENST00000350896.3 - 3 393 c.196C>T c.(196-198)Cct>Tct p.P66S MSR1_ENST00000355282.2_Missense_Mutation_p.P66S|MSR1_ENST00000262101.5_Missense_Mutation_p.P66S|MSR1_ENST00000445506.2_Missense_Mutation_p.P84S|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.P66S NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 66 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) CCAATGAGAGGGATGAGAACT 0.413000 18 22 0 0 0.010504 0 0 FAM20A 54757 broad.mit.edu 37 17 66538260 66538260 + Silent SNP C C T rs150508189 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:66538260C>T ENST00000592554.1 - 7 1697 c.975G>A c.(973-975)acG>acA p.T325T PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 325 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) CAGCATACTCCGTCTTGCACA 0.607000 30 35 0 0 0.009535 0 0 CSMD3 114788 broad.mit.edu 37 8 113516054 113516054 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:113516054G>A ENST00000297405.5 - 30 5292 c.5048C>T c.(5047-5049)tCt>tTt p.S1683F CSMD3_ENST00000343508.3_Missense_Mutation_p.S1643F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1683F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1579F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1683 CUB 9. 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 GTAACTAACAGATCCATCACT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 31 0 0 0.010504 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561656 145561656 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:145561656G>A ENST00000355594.4 + 10 1431 c.1344G>A c.(1342-1344)ggG>ggA p.G448G NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 448 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTACCAATGGGGCACAGACCT 0.572000 55 62 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179586805 179586805 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179586805C>T ENST00000589042.1 - 78 22809 c.22585G>A c.(22585-22587)Gga>Aga p.G7529R TTN_ENST00000591111.1_Missense_Mutation_p.G7212R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6285R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7212 Ig-like 57. 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) GCACTTTCTCCAGCAATAACA 0.403000 13 43 0 0 0.003163 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813746 100813746 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:100813746G>A ENST00000323346.5 + 12 1892 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E477K 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 12 30 0 0 0.010729 0 0 DNAH7 56171 broad.mit.edu 37 2 196681594 196681594 + Silent SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:196681594A>C ENST00000312428.6 - 51 9619 c.9519T>G c.(9517-9519)tcT>tcG p.S3173S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3173 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCTTGGAGGAAGATAATATCT 0.393000 21 45 0 0 0.016522 0 0 OTOF 9381 broad.mit.edu 37 2 26725235 26725235 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:26725235C>T ENST00000272371.2 - 7 769 c.643G>A c.(643-645)Gga>Aga p.G215R OTOF_ENST00000403946.3_Missense_Mutation_p.G215R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 215 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGATCCAGTCCATCTCCTAGC 0.577000 15 29 0 0 0.007413 0 0 NFKBID 84807 broad.mit.edu 37 19 36381329 36381329 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:36381329G>A ENST00000396901.1 - 10 1243 c.670C>T c.(670-672)Cag>Tag p.Q224* NFKBID_ENST00000340950.2_Nonsense_Mutation_p.Q61*|NFKBID_ENST00000352614.2_Nonsense_Mutation_p.Q376*|NFKBID_ENST00000606253.1_Nonsense_Mutation_p.Q224* NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 224 inflammatory response nucleus p.Q224*(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 AGCAGCAGCTGAACCAGAGTG 0.612000 30 62 0 0 0.015359 0 0 TTN 7273 broad.mit.edu 37 2 179612692 179612692 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179612692T>C ENST00000360870.5 - 46 14657 c.14435A>G c.(14434-14436)cAc>cGc p.H4812R TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 922 Ig-like 28. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCACCTCTGTGGTCTTCCAA 0.478000 4 14 0 0 0.009096 0 0 FASN 2194 broad.mit.edu 37 17 80042511 80042511 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:80042511G>A ENST00000306749.2 - 27 4864 c.4646C>T c.(4645-4647)tCc>tTc p.S1549F NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1549 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCGCAGCGAGGAGCAGACCCA 0.657000 5 13 0 0 0.014758 0 0 SCAND3 114821 broad.mit.edu 37 6 28541180 28541180 + Missense_Mutation SNP G G A rs142639079 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:28541180G>A ENST00000452236.2 - 4 3103 c.2486C>T c.(2485-2487)cCg>cTg p.P829L NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 829 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.P829L(1) 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 cttggcaaccggaagtgctac 0.403000 15 65 0 0 0.020292 0 0 SDHC 6391 broad.mit.edu 37 1 161310395 161310395 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:161310395C>T ENST00000367975.2 + 4 340 c.191C>T c.(190-192)cCc>cTc p.P64L SDHC_ENST00000513009.1_Missense_Mutation_p.P30L|SDHC_ENST00000392169.2_Missense_Mutation_p.P11L|SDHC_ENST00000432287.2_Missense_Mutation_p.P30L|SDHC_ENST00000342751.4_Missense_Mutation_p.P64L|SDHC_ENST00000470743.2_3'UTR NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 64 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) TGGTCTCTTCCCATGGCGATG 0.373000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 8 232 0 0 0.006214 0 0 TMEM119 338773 broad.mit.edu 37 12 108986010 108986010 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:108986010G>A ENST00000392806.3 - 2 318 c.150C>T c.(148-150)tcC>tcT p.S50S NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 50 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GGCTCGGGGAGGAGGCCGACG 0.716000 7 17 0 0 0.003080 0 0 PTPN14 5784 broad.mit.edu 37 1 214556657 214556657 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:214556657G>A ENST00000366956.5 - 13 2735 c.2541C>T c.(2539-2541)atC>atT p.I847I PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 847 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CACTCACCCTGATCATCATCT 0.507000 29 46 0 0 0.008361 0 0 MYO1D 4642 broad.mit.edu 37 17 31098192 31098192 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:31098192T>G ENST00000318217.5 - 6 969 c.665A>C c.(664-666)cAg>cCg p.Q222P MYO1D_ENST00000394649.4_Missense_Mutation_p.Q134P|MYO1D_ENST00000583621.1_Missense_Mutation_p.Q222P|MYO1D_ENST00000579584.1_Missense_Mutation_p.Q222P NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 222 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) AAGGGATTTCTGGAGATGTAG 0.358000 17 73 0 0 0.014323 0 0 ADAM20 8748 broad.mit.edu 37 14 70991342 70991342 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:70991342G>A ENST00000256389.3 - 2 527 c.283C>T c.(283-285)Cct>Tct p.P95S RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 45 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) ACCTTCAAAGGGATCACCACT 0.532000 7 10 0 0 0.004482 0 0 ITGA8 8516 broad.mit.edu 37 10 15697376 15697376 + Silent SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:15697376G>T ENST00000378076.3 - 11 1331 c.978C>A c.(976-978)gtC>gtA p.V326V NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 326 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 CATCTGATACGACAACGGTAT 0.318000 4 47 0.00024832 0.000256452 0.009096 1 0 HSPG2 3339 broad.mit.edu 37 1 22203098 22203098 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:22203098G>A ENST00000374695.3 - 22 2812 c.2733C>T c.(2731-2733)ttC>ttT p.F911F NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 911 Laminin EGF-like 4; truncated. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TACTCAGGTGGAAAGAGCCGT 0.592000 11 25 0 0 0.008291 0 0 COQ6 51004 broad.mit.edu 37 14 74428024 74428024 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:74428024C>T ENST00000334571.2 + 9 1080 c.1040C>T c.(1039-1041)cCt>cTt p.P347L COQ6_ENST00000554920.1_Intron|COQ6_ENST00000557780.1_3'UTR|COQ6_ENST00000394026.4_Missense_Mutation_p.P322L|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.P272L NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 347 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) GTTCTGTTTCCTCTTGGGTTG 0.587000 6 30 0 0 0.003080 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68165716 68165716 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:68165716G>T ENST00000262215.3 - 18 3057 c.2668C>A c.(2668-2670)Cta>Ata p.L890I ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L344I NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 890 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) GGGATTGTTAGTTCTTTTGTT 0.318000 14 46 2.31682e-05 2.39818e-05 0.003163 1 0 USP33 23032 broad.mit.edu 37 1 78177436 78177436 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:78177436A>T ENST00000370793.1 - 22 2841 c.2495T>A c.(2494-2496)aTt>aAt p.I832N USP33_ENST00000370794.3_Missense_Mutation_p.I801N|USP33_ENST00000370792.3_Missense_Mutation_p.I824N|USP33_ENST00000357428.1_Missense_Mutation_p.I832N NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 832 DUSP 2. 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 TTTTACCCGAATAAAAATTTC 0.323000 12 46 0 0 0.016723 0 0 NRSN1 140767 broad.mit.edu 37 6 24146056 24146056 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:24146056G>A ENST00000378491.4 + 4 771 c.470G>A c.(469-471)cGa>cAa p.R157Q NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 157 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 TTTAAAGAACGAATCGCAGAC 0.493000 9 53 0 0 0.004482 0 0 KLHL7 55975 broad.mit.edu 37 7 23183515 23183515 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:23183515C>T ENST00000322231.7 + 7 1088 c.598C>T c.(598-600)Cgc>Tgc p.R200C KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146C|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174C|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200C|KLHL7_ENST00000339077.4_Missense_Mutation_p.R222C Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 222 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGAACCTAATCGCCAGCCATT 0.378000 42 102 0 0 0.013114 0 0 C9orf84 158401 broad.mit.edu 37 9 114518604 114518604 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:114518604C>T ENST00000394779.3 - 4 798 c.e4+1 C9orf84_ENST00000374287.3_Splice_Site|C9orf84_ENST00000318737.4_Splice_Site|C9orf84_ENST00000374283.5_Splice_Site|C9orf84_ENST00000394777.4_Splice_Site NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTAATTCTCACCTCTTTCAAA 0.294000 6 24 0 0 0.001168 0 0 FDPS 2224 broad.mit.edu 37 1 155279652 155279652 + Missense_Mutation SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:155279652G>C ENST00000356657.6 + 2 234 c.72G>C c.(70-72)gaG>gaC p.E24D FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Missense_Mutation_p.E24D NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 24 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CACCCCGGGAGAGGTGGCTGG 0.682000 4 13 0 0 0.014758 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667763 70667763 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:70667763G>A ENST00000260126.3 - 4 1860 c.1154C>T c.(1153-1155)tCt>tTt p.S385F SLCO5A1_ENST00000524945.1_Missense_Mutation_p.S385F|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S385F NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 385 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AGCATCAACAGAAAATTTTTT 0.373000 19 37 0 0 0.007413 0 0 ACTB 60 broad.mit.edu 37 7 5567920 5567920 + Missense_Mutation SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:5567920G>C ENST00000331789.5 - 4 985 c.794C>G c.(793-795)tCc>tGc p.S265C NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 265 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) ACCCAGGAAGGAAGGCTGGAA 0.607000 25 62 0 0 0.006320 0 0 SMPD3 55512 broad.mit.edu 37 16 68405628 68405628 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:68405628C>T ENST00000219334.5 - 3 1060 c.457G>A c.(457-459)Gag>Aag p.E153K SMPD3_ENST00000563226.1_Missense_Mutation_p.E153K|SMPD3_ENST00000568373.1_Missense_Mutation_p.E153K NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 153 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) TGCCCGATCTCCTTGGCCCGC 0.592000 8 31 0 0 0.006214 0 0 FBLN5 10516 broad.mit.edu 37 14 92336611 92336611 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:92336611G>A ENST00000267620.10 - 12 1596 c.1427C>T c.(1426-1428)tCc>tTc p.S476F FBLN5_ENST00000342058.4_Missense_Mutation_p.S435F|FBLN5_ENST00000556154.1_Missense_Mutation_p.S440F|FBLN5_ENST00000556961.1_5'UTR Q9UBX5 FBLN5_HUMAN fibulin 5 435 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TCGGATCACGGAGCTGCCTCT 0.572000 28 87 0 0 0.007291 0 0 EGR2 1959 broad.mit.edu 37 10 64573153 64573153 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:64573153G>A ENST00000242480.3 - 2 1570 c.1245C>T c.(1243-1245)cgC>cgT p.R415R EGR2_ENST00000439032.1_Silent_p.R415R|EGR2_ENST00000411732.1_Silent_p.R365R NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 415 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) TCTTGGTGTGGCGCTTCCTCT 0.617000 38 51 0 0 0.019004 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907865 12907865 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:12907865C>T ENST00000317869.6 - 2 503 c.278G>A c.(277-279)gGa>gAa p.G93E NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 ACCTGCGTTTCCTCGGTTCAC 0.483000 13 97 0 0 0.003163 0 0 NLRP5 126206 broad.mit.edu 37 19 56539825 56539825 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:56539825G>A ENST00000390649.3 + 7 2226 c.2226G>A c.(2224-2226)ggG>ggA p.G742G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 742 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) ATGTCAAAGGGATCTTCCCAA 0.517000 68 164 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 8995652 8995652 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:8995652G>A ENST00000397910.4 - 63 41539 c.41336C>T c.(41335-41337)tCg>tTg p.S13779L MUC16_ENST00000380951.5_Missense_Mutation_p.S420L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13781 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 GCCAAATATCGAGGCTGGAGT 0.463000 11 25 0 0 0.016723 0 0 VRTN 55237 broad.mit.edu 37 14 74824603 74824603 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:74824603G>A ENST00000256362.4 + 2 1358 c.1117G>A c.(1117-1119)Gag>Aag p.E373K NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 373 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 GGGCATGGAGGAGCTAGAGAA 0.647000 13 32 0 0 0.016723 0 0 NMBR 4829 broad.mit.edu 37 6 142399866 142399866 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:142399866G>A ENST00000258042.1 - 2 737 c.597C>T c.(595-597)atC>atT p.I199I NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 199 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) GAGGGTATGGGATACATGCTG 0.423000 11 22 0 0 0.013537 0 0 PAK7 57144 broad.mit.edu 37 20 9546835 9546835 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:9546835G>A ENST00000378429.3 - 6 1733 c.1187C>T c.(1186-1188)tCc>tTc p.S396F PAK7_ENST00000378423.1_Missense_Mutation_p.S396F|PAK7_ENST00000353224.5_Missense_Mutation_p.S396F NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 396 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGAAGCCGTGGAGATGTACTG 0.612000 15 53 0 0 0.003163 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571302 155571302 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:155571302A>T ENST00000392845.2 - 1 865 c.485T>A c.(484-486)gTg>gAg p.V162E SLC33A1_ENST00000359479.3_Missense_Mutation_p.V162E NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 162 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAAACGGTCCACCTGAGTGGA 0.473000 21 43 0 0 0.008871 0 0 OR4K14 122740 broad.mit.edu 37 14 20483185 20483185 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20483185G>T ENST00000305045.2 - 1 167 c.168C>A c.(166-168)caC>caA p.H56Q NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) TAGGGGAGGAGTGCAGGCAGG 0.448000 7 29 5.4927e-09 5.747e-09 0.004482 1 0 PASD1 139135 broad.mit.edu 37 X 150844505 150844505 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:150844505G>A ENST00000370357.4 + 16 2457 c.2212G>A c.(2212-2214)Gat>Aat p.D738N NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 738 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GGGACCTCCTGATCCACAGGC 0.517000 55 43 0 0 0.014410 0 0 TRPM3 80036 broad.mit.edu 37 9 73240410 73240410 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:73240410C>T ENST00000377105.1 - 13 1551 c.1197G>A c.(1195-1197)tgG>tgA p.W399* TRPM3_ENST00000360823.2_Intron|TRPM3_ENST00000396292.4_Intron|TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.W399*|TRPM3_ENST00000377106.1_Intron|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.W399*|TRPM3_ENST00000377110.2_Intron|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.W554*|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000358082.3_Intron NM_024971.5|NM_206945.3 NP_079247.5|NP_996828.3 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 569 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TAAAATAGATCCAACCGAAAC 0.279000 12 54 0 0 0.004007 0 0 HEPHL1 341208 broad.mit.edu 37 11 93815599 93815599 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:93815599G>A ENST00000315765.9 + 10 1740 c.1732G>A c.(1732-1734)Gag>Aag p.E578K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 578 Plastocyanin-like 4. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AATAGACAAGGAGTTTTACCT 0.353000 9 12 0 0 0.008291 0 0 CCKAR 886 broad.mit.edu 37 4 26483489 26483489 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:26483489G>A ENST00000295589.3 - 5 1252 c.1058C>T c.(1057-1059)tCc>tTc p.S353F NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 353 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GAGGATGAAGGAAATGGGGGT 0.612000 26 63 0 0 0.005443 0 0 OR51E2 81285 broad.mit.edu 37 11 4703639 4703639 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:4703639G>A ENST00000396950.3 - 2 542 c.303C>T c.(301-303)ttC>ttT p.F101F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CATGAATAAAGAACATCTGGG 0.522000 8 38 0 0 0.004482 0 0 KRT77 374454 broad.mit.edu 37 12 53096950 53096950 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:53096950C>T ENST00000341809.3 - 1 297 c.269G>A c.(268-270)gGa>gAa p.G90E KRT77_ENST00000537195.1_5'UTR NM_175078.2 NP_778253.2 Q7Z794 K2C1B_HUMAN keratin 77 90 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 CCCTCCAAATCCCCCTACTCC 0.577000 4 12 0 0 0.014758 0 0 NLRP10 338322 broad.mit.edu 37 11 7981464 7981464 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:7981464G>A ENST00000328600.2 - 2 1856 c.1695C>T c.(1693-1695)ttC>ttT p.F565F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 565 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) CATACAGGGAGAATTCCAAAT 0.363000 17 39 0 0 0.007413 0 0 OIP5 11339 broad.mit.edu 37 15 41611941 41611941 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:41611941G>A ENST00000220514.3 - 3 486 c.427C>T c.(427-429)Ccc>Tcc p.P143S NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 143 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) AAACCAACGGGAATCCCACAA 0.403000 9 22 0 0 0.004482 0 0 HEPACAM 220296 broad.mit.edu 37 11 124792320 124792320 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:124792320C>T ENST00000298251.4 - 6 1317 c.912G>A c.(910-912)cgG>cgA p.R304R NM_152722.4 NP_689935.2 Q14CZ8 HECAM_HUMAN hepatic and glial cell adhesion molecule 304 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGGGGTTCTTCCGTTCCTGCT 0.602000 43 96 0 0 0.014410 0 0 ACTB 60 broad.mit.edu 37 7 5567919 5567919 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:5567919G>A ENST00000331789.5 - 4 986 c.795C>T c.(793-795)tcC>tcT p.S265S NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 265 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CACCCAGGAAGGAAGGCTGGA 0.612000 26 63 0 0 0.007291 0 0 EXTL3 2137 broad.mit.edu 37 8 28608236 28608236 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:28608236C>T ENST00000220562.4 + 7 3515 c.2613C>T c.(2611-2613)tcC>tcT p.S871S EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.S487S NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 871 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) ATGATGACTCCCACTTCCACG 0.567000 29 43 0 0 0.010818 0 0 CPA6 57094 broad.mit.edu 37 8 68334778 68334778 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:68334778C>T ENST00000297770.4 - 11 1490 c.1275G>A c.(1273-1275)gtG>gtA p.V425V CPA6_ENST00000297769.4_Silent_p.V181V NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 425 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) TGATATTTTTCACAGCCAGCA 0.458000 42 120 0 0 0.013114 0 0 WTIP 126374 broad.mit.edu 37 19 34985514 34985514 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:34985514C>T ENST00000590071.2 + 6 1392 c.1055C>T c.(1054-1056)tCc>tTc p.S352F WTIP_ENST00000270288.6_Missense_Mutation_p.S576F NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) AAATGCGCCTCCTGTGCCCGT 0.577000 6 23 0 0 0.003080 0 0 ANKEF1 63926 broad.mit.edu 37 20 10036266 10036266 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:10036266C>T ENST00000378380.3 + 10 2618 c.2289C>T c.(2287-2289)atC>atT p.I763I SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.I763I|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AGAAGAACATCACAGAGAAAG 0.478000 10 10 0 0 0.008291 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834496 101834496 + Missense_Mutation SNP C C T rs112814311 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:101834496C>T ENST00000506729.1 - 1 224 c.53G>A c.(52-54)gGa>gAa p.G18E SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G18E|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G18E|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G18E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G18E Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 18 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CGGCTCTACTCCCCTTGAGAC 0.672000 137 145 0 0 0.014410 0 0 IRS4 8471 broad.mit.edu 37 X 107976623 107976623 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:107976623A>G ENST00000372129.2 - 1 3028 c.2952T>C c.(2950-2952)cgT>cgC p.R984R NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 984 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AGGGGTTGGCACGTGGTATAG 0.478000 34 29 0 0 0.013726 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851567 14851567 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:14851567G>A ENST00000358984.4 + 36 3447 c.3267G>A c.(3265-3267)aaG>aaA p.K1089K NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1174 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGTTGAAAAAGGAAATTGCCA 0.303000 3 16 0 0 0.009096 0 0 MET 4233 broad.mit.edu 37 7 116339180 116339180 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:116339180C>T ENST00000397752.3 + 2 242 c.42C>T c.(40-42)ctC>ctT p.L14L MET_ENST00000436117.2_Silent_p.L14L|MET_ENST00000318493.6_Silent_p.L14L NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 14 axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TCCTCGTGCTCCTGTTTACCT 0.493000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 4 19 0 0 0.014758 0 0 RTN1 6252 broad.mit.edu 37 14 60194302 60194302 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:60194302G>A ENST00000267484.5 - 3 1435 c.1100C>T c.(1099-1101)tCg>tTg p.S367L NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 367 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GGTTTCATACGATAATCCCTT 0.622000 6 18 0 0 0.001984 0 0 LLGL2 3993 broad.mit.edu 37 17 73555366 73555366 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:73555366C>T ENST00000392550.3 + 6 522 c.405C>T c.(403-405)gtC>gtT p.V135V LLGL2_ENST00000375227.4_Silent_p.V135V|LLGL2_ENST00000578363.1_Silent_p.V135V|LLGL2_ENST00000167462.5_Silent_p.V135V|LLGL2_ENST00000577200.1_Silent_p.V135V NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 135 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCACCGTGGTCCTGCCACATT 0.642000 6 41 0 0 0.001984 0 0 SRD5A2 6716 broad.mit.edu 37 2 31754518 31754518 + RNA SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:31754518A>G ENST00000405650.1 - 0 722 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) AACATACGTAAACAAGCCACC 0.453000 6 13 0 0 0.001168 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186909142 186909142 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:186909142G>A ENST00000367466.3 + 10 1101 c.949G>A c.(949-951)Gaa>Aaa p.E317K PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E257K NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 317 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CAGTTTGAAGGAAAAAGTTAA 0.358000 9 7 0 0 0.008291 0 0 FZD8 8325 broad.mit.edu 37 10 35928513 35928513 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:35928513G>A ENST00000374694.1 - 1 1849 c.1845C>T c.(1843-1845)tcC>tcT p.S615S NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 615 axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GGGTGCACAGGGAGCGCCAGG 0.746000 4 11 0 0 0.009096 0 0 KCNC3 3748 broad.mit.edu 37 19 50823976 50823976 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:50823976G>A ENST00000376959.2 - 3 2207 c.2044C>T c.(2044-2046)Cag>Tag p.Q682* KCNC3_ENST00000477616.1_Nonsense_Mutation_p.Q682*|KCNC3_ENST00000474951.1_5'UTR|KCNC3_ENST00000391818.2_Silent_p.T18T Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 682 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) ATGGCAGGCTGGTCAATGGCT 0.647000 18 31 0 0 0.008871 0 0 FLNC 2318 broad.mit.edu 37 7 128481572 128481572 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:128481572C>T ENST00000325888.8 + 13 2333 c.2072C>T c.(2071-2073)aCc>aTc p.T691I FLNC_ENST00000346177.6_Missense_Mutation_p.T691I NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 691 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 GCTGAGTTCACCATTGATGCT 0.607000 53 179 0 0 0.014410 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136302870 136302870 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:136302870G>A ENST00000371929.3 + 13 1881 c.1435_splice c.e13-1 p.G479_splice ADAMTS13_ENST00000356589.2_Splice_Site_p.G448_splice|ADAMTS13_ENST00000536611.1_Splice_Site_p.G151_splice|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Splice_Site_p.G479_splice NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 479 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCCTCCCAGGGGATGCTCTGT 0.607000 7 43 0 0 0.003080 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352531 51352531 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:51352531G>A ENST00000337334.2 + 7 595 c.580G>A c.(580-582)Gat>Aat p.D194N ABHD12B_ENST00000353130.1_Missense_Mutation_p.D117N|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Missense_Mutation_p.D87N NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 194 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) ACTGACTACGGATGCCATTTG 0.517000 34 96 0 0 0.010818 0 0 NARG2 79664 broad.mit.edu 37 15 60715915 60715915 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:60715915G>A ENST00000261520.4 - 16 3101 c.2867C>T c.(2866-2868)tCc>tTc p.S956F NARG2_ENST00000439632.1_Missense_Mutation_p.S819F NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 956 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 GGTTTCCATGGAAACTGGATT 0.418000 8 14 0 0 0.003080 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555154 44555154 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:44555154C>T ENST00000330682.2 - 1 1295 c.1060G>A c.(1060-1062)Gac>Aac p.D354N KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 354 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CCTTCCACGTCGCCGAGGGCG 0.662000 20 602 0 0 0.005443 0 0 OXTR 5021 broad.mit.edu 37 3 8794707 8794707 + Missense_Mutation SNP G G A rs35062132 by1000genomes TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:8794707G>A ENST00000316793.3 - 4 1750 c.1126C>T c.(1126-1128)Cgc>Tgc p.R376C CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 376 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) CTGGAGCTGCGATGGCTCAGG 0.642000 11 27 0 0 0.008291 0 0 SCN3A 6328 broad.mit.edu 37 2 165984368 165984368 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:165984368C>T ENST00000360093.3 - 18 3657 c.3166G>A c.(3166-3168)Gaa>Aaa p.E1056K SCN3A_ENST00000283254.7_Missense_Mutation_p.E1056K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1007K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1056 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTGCTTATTTCAATTCCAGTA 0.373000 13 31 0 0 0.020292 0 0 SCN11A 11280 broad.mit.edu 37 3 38991652 38991652 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:38991652C>T ENST00000302328.3 - 1 400 c.202G>A c.(202-204)Gac>Aac p.D68N SCN11A_ENST00000456224.3_Missense_Mutation_p.D68N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D68N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D68N NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 68 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGAGGAATGTCGCCATAGAGC 0.542000 34 136 0 0 0.005524 0 0 UBR1 197131 broad.mit.edu 37 15 43314912 43314912 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:43314912G>A ENST00000290650.4 - 26 2905 c.2827C>T c.(2827-2829)Cat>Tat p.H943Y UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 943 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GAAGCCTTATGATAAAAGTCA 0.338000 16 50 0 0 0.004990 0 0 NLRP1 22861 broad.mit.edu 37 17 5462774 5462774 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:5462774C>T ENST00000345221.3 - 4 1796 c.1242G>A c.(1240-1242)gaG>gaA p.E414E NLRP1_ENST00000577119.1_Silent_p.E414E|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Silent_p.E414E|NLRP1_ENST00000572272.1_Silent_p.E414E|NLRP1_ENST00000354411.3_Silent_p.E414E|NLRP1_ENST00000262467.5_Silent_p.E414E 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 1 414 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) CCCATCCTGGCTCATCTACAC 0.582000 17 23 0 0 0.004990 0 0 PPRC1 23082 broad.mit.edu 37 10 103898705 103898705 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:103898705G>T ENST00000278070.2 + 4 598 c.559G>T c.(559-561)Ggg>Tgg p.G187W PPRC1_ENST00000413464.2_Missense_Mutation_p.G187W NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding p.G187R(1) central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGACCCACTGGGGCCCAGTAC 0.572000 17 46 2.35188e-11 2.47221e-11 0.006122 1 0 CREB3L2 64764 broad.mit.edu 37 7 137593038 137593038 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:137593038G>A ENST00000330387.6 - 5 1079 c.728C>T c.(727-729)cCc>cTc p.P243L CREB3L2_ENST00000456390.1_Missense_Mutation_p.P243L NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 243 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GAGGGCGGAGGGGGCCCGGGG 0.657000 T FUS fibromyxoid sarcoma 3 3 0 0 0.009096 0 0 GLRA3 8001 broad.mit.edu 37 4 175565126 175565126 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:175565126G>A ENST00000274093.3 - 10 1708 c.1206C>T c.(1204-1206)ggC>ggT p.G402G GLRA3_ENST00000340217.5_Silent_p.G387G NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 402 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GGTGGTTGGGGCCCTTTGGAG 0.498000 22 57 0 0 0.004656 0 0 COL11A1 1301 broad.mit.edu 37 1 103343594 103343594 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:103343594G>A ENST00000358392.2 - 67 5755 c.5438C>T c.(5437-5439)cCt>cTt p.P1813L COL11A1_ENST00000370096.3_Missense_Mutation_p.P1801L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1685L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1762L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1801 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) AAAACAAACAGGACCAACTTC 0.353000 13 24 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21228841 21228841 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:21228841C>T ENST00000233242.1 - 26 11026 c.10899G>A c.(10897-10899)tgG>tgA p.W3633* NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3633 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) CTTCATTTTTCCATCTGATCT 0.483000 74 164 0 0 0.014410 0 0 VRTN 55237 broad.mit.edu 37 14 74825172 74825172 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:74825172C>T ENST00000256362.4 + 2 1927 c.1686C>T c.(1684-1686)gtC>gtT p.V562V NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 562 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AGGTGCCGGTCCCCACCTTGG 0.632000 24 58 0 0 0.018920 0 0 DBH 1621 broad.mit.edu 37 9 136501608 136501608 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:136501608G>A ENST00000393056.2 + 1 127 c.115G>A c.(115-117)Ggc>Agc p.G39S NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 39 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CGCACTGCAGGGCTCGGCTCC 0.667000 12 55 0 0 0.010729 0 0 KLRG2 346689 broad.mit.edu 37 7 139164442 139164442 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:139164442C>T ENST00000340940.4 - 3 1005 c.936G>A c.(934-936)caG>caA p.Q312Q KLRG2_ENST00000393039.2_Intron NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 312 C-type lectin. integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) CTTCCCAGGCCTGCGCTTCTG 0.612000 18 77 0 0 0.007413 0 0 CFHR5 81494 broad.mit.edu 37 1 196953100 196953100 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:196953100C>T ENST00000367414.5 + 3 391 c.335C>T c.(334-336)tCc>tTc p.S112F CFHR5_ENST00000256785.4_Missense_Mutation_p.S88F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 88 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GGAATGTGTTCCTTTCCTTTT 0.308000 7 22 0 0 0.001984 0 0 SCFD2 152579 broad.mit.edu 37 4 54140030 54140030 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:54140030C>T ENST00000401642.3 - 4 1407 c.1274G>A c.(1273-1275)tGg>tAg p.W425* SCFD2_ENST00000388940.4_Nonsense_Mutation_p.W425* NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 425 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAAGTTGTCCCACTTGGCAGT 0.448000 23 41 0 0 0.016522 0 0 TMIGD1 388364 broad.mit.edu 37 17 28652031 28652031 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:28652031T>C ENST00000328886.4 - 4 515 c.443A>G c.(442-444)aAc>aGc p.N148S TMIGD1_ENST00000538566.2_Missense_Mutation_p.N148S NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 148 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 AGCCTGGGGGTTGGCTTTCAC 0.443000 66 89 0 0 0.014410 0 0 MUC16 94025 broad.mit.edu 37 19 9088081 9088081 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:9088081G>A ENST00000397910.4 - 1 3937 c.3734C>T c.(3733-3735)tCa>tTa p.S1245L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1245 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S1245*(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGTTTGTTGATTCAGGGTA 0.507000 187 183 0 0 0.014410 0 0 CFHR4 10877 broad.mit.edu 37 1 196876120 196876120 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:196876120C>T ENST00000367416.2 + 4 703 c.566C>T c.(565-567)tCc>tTc p.S189F CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 ACCACAGATTCCATAGTGTGT 0.368000 3 11 0 0 0.004672 0 0 CACNA1F 778 broad.mit.edu 37 X 49063311 49063311 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:49063311G>A ENST00000376265.2 - 45 5331 c.5270C>T c.(5269-5271)tCc>tTc p.S1757F CACNA1F_ENST00000376251.1_Missense_Mutation_p.S1692F|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S1746F NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1757 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ATCTAGGTAGGAAAGCCTGTG 0.632000 17 7 0 0 0.008871 0 0 ABCB1 5243 broad.mit.edu 37 7 87173569 87173569 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:87173569G>A ENST00000265724.3 - 18 2504 c.2087C>T c.(2086-2088)tCc>tTc p.S696F ABCB1_ENST00000543898.1_Missense_Mutation_p.S632F NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 696 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCTCCAAAAGGAAACTGGAGG 0.328000 25 49 0 0 0.009535 0 0 CACNA1B 774 broad.mit.edu 37 9 140991040 140991040 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:140991040G>A ENST00000277549.5 + 37 5350 c.2781G>A c.(2779-2781)tgG>tgA p.W927* CACNA1B_ENST00000371355.4_Nonsense_Mutation_p.W1734*|CACNA1B_ENST00000371363.1_Nonsense_Mutation_p.W1731*|CACNA1B_ENST00000277551.2_Nonsense_Mutation_p.W1733*|CACNA1B_ENST00000371372.1_Nonsense_Mutation_p.W1733*|CACNA1B_ENST00000371357.1_Nonsense_Mutation_p.W1732*|CACNA1B_ENST00000371365.2_Nonsense_Mutation_p.W97* Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1733 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) TCCGGGTCTGGGCTGAATACG 0.562000 11 49 0 0 0.008291 0 0 TAF1 6872 broad.mit.edu 37 X 70679093 70679093 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:70679093C>T ENST00000449580.1 + 36 5206 c.5155C>T c.(5155-5157)Cca>Tca p.P1719S TAF1_ENST00000423759.1_Intron|TAF1_ENST00000276072.3_Intron|TAF1_ENST00000373790.4_Intron|TAF1_ENST00000461764.1_3'UTR P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1687 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ACCTAAGACTCCAGCCCCAGT 0.488000 20 15 0 0 0.012319 0 0 MYO5C 55930 broad.mit.edu 37 15 52571166 52571166 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:52571166C>T ENST00000261839.7 - 4 514 c.353G>A c.(352-354)gGa>gAa p.G118E MYO5C_ENST00000443683.2_5'UTR|MYO5C_ENST00000541028.1_5'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 118 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GATGGCATCTCCGTATATTGG 0.488000 30 55 0 0 0.010818 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400857 11400857 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:11400857C>T ENST00000002596.5 - 2 1947 c.773G>A c.(772-774)cGg>cAg p.R258Q NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 258 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GCCGCTGTCCCGCAGGCAGTA 0.512000 18 49 0 0 0.004990 0 0 THEM5 284486 broad.mit.edu 37 1 151825969 151825969 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:151825969G>A ENST00000368817.5 - 1 204 c.73C>T c.(73-75)Ctg>Ttg p.L25L NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 25 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGTCTGGGCAGGATACGGGGG 0.582000 32 142 0 0 0.021022 0 0 SPG7 6687 broad.mit.edu 37 16 89603237 89603237 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:89603237C>T ENST00000341316.2 + 10 1396 c.1389C>T c.(1387-1389)gcC>gcT p.A463A SPG7_ENST00000268704.2_Intron NM_199367.1 NP_955399.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 343 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AGACCCCCGCCTGCTCCTGTC 0.587000 49 136 0 0 0.014410 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18793380 18793380 + Silent SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:18793380T>G ENST00000433979.1 + 31 4193 c.4077T>G c.(4075-4077)tcT>tcG p.S1359S PIK3C2G_ENST00000266497.5_Silent_p.S1359S|PIK3C2G_ENST00000538779.1_Silent_p.S1400S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1359 C2. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CAGATGGCTCTGCGCCCAGTG 0.383000 4 8 0 0 0.001168 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537394 5537394 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:5537394C>A ENST00000380184.1 - 1 541 c.278G>T c.(277-279)gGc>gTc p.G93V HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 93 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GATGGTGTGGCCATCCATGAT 0.547000 9 41 5.50884e-06 5.71537e-06 0.013537 1 0 RSPH9 221421 broad.mit.edu 37 6 43638552 43638552 + Missense_Mutation SNP G G C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:43638552G>C ENST00000372165.4 + 6 802 c.749G>C c.(748-750)gGg>gCg p.G250A RSPH9_ENST00000372163.4_Missense_Mutation_p.G233R NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 0 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GATGGAGAGGGGCAATGCCCT 0.632000 Kartagener syndrome 26 45 0 0 0.009535 0 0 OR9K2 441639 broad.mit.edu 37 12 55523577 55523577 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:55523577C>T ENST00000305377.5 + 1 113 c.25C>T c.(25-27)Cat>Tat p.H9Y NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 ACCAAGAGTTCATTTGTATAT 0.348000 7 16 0 0 0.003080 0 0 DHX9 1660 broad.mit.edu 37 1 182847207 182847207 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:182847207C>T ENST00000367549.3 + 20 2360 c.2250C>T c.(2248-2250)acC>acT p.T750T DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 750 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 ACTATGCTACCGTATGGGCAT 0.448000 14 16 0 0 0.004990 0 0 WBSCR17 64409 broad.mit.edu 37 7 71036340 71036340 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:71036340C>T ENST00000333538.5 + 6 1667 c.1033C>T c.(1033-1035)Cct>Tct p.P345S WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 345 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCTTCTGGATCCTGGCATGGA 0.502000 35 95 0 0 0.019004 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21051369 21051369 + Splice_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:21051369G>A ENST00000381545.3 + 14 1901 c.e14-1 SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Splice_Site|SLCO1B3_ENST00000261196.2_Splice_Site|LST3_ENST00000540229.1_Splice_Site|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 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) TCATATTTCAGGATTGTTCAA 0.299000 6 26 0 0 0.001168 0 0 SLC15A3 51296 broad.mit.edu 37 11 60711223 60711223 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:60711223C>A ENST00000227880.3 - 3 1167 c.934G>T c.(934-936)Gtg>Ttg p.V312L NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 312 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 TTCACCAGCACCTGGAAGTTG 0.617000 6 45 0.00116845 0.00120579 0.001168 1 0 C7orf63 79846 broad.mit.edu 37 7 89897659 89897659 + Missense_Mutation SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:89897659G>T ENST00000389297.4 + 6 744 c.493G>T c.(493-495)Gat>Tat p.D165Y AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000497910.1_Intron|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.D165Y NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 165 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GTGTATTGTTGATTTTTATCA 0.338000 8 12 5.4927e-09 5.747e-09 0.004482 1 0 SLC28A1 9154 broad.mit.edu 37 15 85478734 85478734 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:85478734G>A ENST00000394573.1 + 15 1768 c.1566G>A c.(1564-1566)agG>agA p.R522R SLC28A1_ENST00000537216.1_Silent_p.R522R|SLC28A1_ENST00000537624.1_Silent_p.R522R|SLC28A1_ENST00000286749.3_Silent_p.R522R|SLC28A1_ENST00000538177.1_Intron NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 522 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCGGCGACAGGAAGCAGTGGA 0.627000 41 87 0 0 0.008740 0 0 SEMG2 6407 broad.mit.edu 37 20 43851307 43851307 + Missense_Mutation SNP A A C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:43851307A>C ENST00000372769.3 + 2 1124 c.1034A>C c.(1033-1035)aAa>aCa p.K345T NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 345 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AAGGAAAATAAAATATCATAC 0.383000 9 28 0 0 0.004482 0 0 CCDC149 91050 broad.mit.edu 37 4 24838983 24838983 + Missense_Mutation SNP C C G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:24838983C>G ENST00000504487.1 - 6 535 c.529G>C c.(529-531)Gag>Cag p.E177Q CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Missense_Mutation_p.E177Q|CCDC149_ENST00000502801.1_Intron NM_001130726.2 NP_001124198.1 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 177 cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) TCCTGAAGCTCGTCCACAGAA 0.522000 18 48 0 0 0.008871 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039718 36039718 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:36039718G>A ENST00000282507.3 - 5 1037 c.936C>T c.(934-936)atC>atT p.I312I UGT3A2_ENST00000545528.1_Silent_p.I10I|UGT3A2_ENST00000513300.1_Silent_p.I278I NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 312 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTCCTTGAAGATTTCCGGAT 0.493000 38 55 0 0 0.005524 0 0 LRP1B 53353 broad.mit.edu 37 2 141245207 141245207 + Nonsense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:141245207A>T ENST00000389484.3 - 58 10193 c.9222T>A c.(9220-9222)tgT>tgA p.C3074* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3074 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) TTCCATTTAAACACATTCTAT 0.299000 TSP Lung(27;0.18) 8 28 0 0 0.004482 0 0 COL16A1 1307 broad.mit.edu 37 1 32126196 32126196 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:32126196G>A ENST00000373672.3 - 62 4385 c.3869C>T c.(3868-3870)cCg>cTg p.P1290L COL16A1_ENST00000271069.6_Missense_Mutation_p.P1290L NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1290 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) AACGTGTCCCGGGGGACCGGG 0.527000 35 74 0 0 0.014410 0 0 A2ML1 144568 broad.mit.edu 37 12 8995919 8995919 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:8995919G>A ENST00000299698.7 + 12 1618 c.1438G>A c.(1438-1440)Gat>Aat p.D480N NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 324 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 CGACCCGGCCGATGCAAGCCC 0.562000 21 33 0 0 0.016522 0 0 ZNF556 80032 broad.mit.edu 37 19 2877344 2877344 + Nonsense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:2877344C>T ENST00000586426.1 + 4 472 c.385C>T c.(385-387)Cga>Tga p.R129* ZNF556_ENST00000307635.2_Nonsense_Mutation_p.R130* Q9HAH1 ZN556_HUMAN zinc finger protein 556 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGAAAGACTCGAAATTGTAA 0.408000 20 17 0 0 0.007413 0 0 HSD17B2 3294 broad.mit.edu 37 16 82104609 82104609 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:82104609C>T ENST00000199936.4 + 3 734 c.541C>T c.(541-543)Ctt>Ttt p.L181F RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 181 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) GGAGCTTCTTCTTATGACTGA 0.468000 13 48 0 0 0.003163 0 0 HIPK3 10114 broad.mit.edu 37 11 33350174 33350174 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:33350174G>A ENST00000303296.4 + 3 1521 c.1216G>A c.(1216-1218)Gat>Aat p.D406N HIPK3_ENST00000379016.3_Missense_Mutation_p.D406N|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000525975.1_Missense_Mutation_p.D406N|HIPK3_ENST00000456517.1_Missense_Mutation_p.D406N NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 406 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 CTTGGAGTATGATCAGGTAAC 0.403000 7 41 0 0 0.001984 0 0 TULP1 7287 broad.mit.edu 37 6 35477635 35477635 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:35477635C>T ENST00000229771.6 - 6 649 c.570G>A c.(568-570)gaG>gaA p.E190E TULP1_ENST00000322263.4_Silent_p.E137E NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 190 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 TCTTGGTCCCCTCCCCTGCTG 0.572000 53 196 0 0 0.014410 0 0 TMCO4 255104 broad.mit.edu 37 1 20072116 20072116 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:20072116G>A ENST00000294543.6 - 10 1027 c.786C>T c.(784-786)gcC>gcT p.A262A TMCO4_ENST00000375127.1_Silent_p.A262A|TMCO4_ENST00000375122.2_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 262 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) ACTCTTCAATGGCTCCCACTC 0.567000 43 121 0 0 0.007835 0 0 USP29 57663 broad.mit.edu 37 19 57641786 57641786 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:57641786G>A ENST00000254181.4 + 4 2197 c.1743G>A c.(1741-1743)atG>atA p.M581I USP29_ENST00000598197.1_Missense_Mutation_p.M581I NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 581 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) CACCATCAATGAAGCTGACCT 0.488000 17 50 0 0 0.004007 0 0 USP44 84101 broad.mit.edu 37 12 95928001 95928001 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:95928001C>T ENST00000258499.3 - 2 320 c.32G>A c.(31-33)gGg>gAg p.G11E USP44_ENST00000393091.2_Missense_Mutation_p.G11E|USP44_ENST00000552440.1_Missense_Mutation_p.G11E|USP44_ENST00000537435.2_Missense_Mutation_p.G11E NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 11 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 CTGCAGCTGCCCAACATGTTT 0.468000 OREG0022039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 86 0 0 0.004656 0 0 GPR98 84059 broad.mit.edu 37 5 90074267 90074267 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:90074267G>A ENST00000405460.2 + 63 12786 c.12690G>A c.(12688-12690)gaG>gaA p.E4230E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4230 Calx-beta 28. 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) ACATTCCCGAGGAAAAAAGCT 0.438000 7 10 0 0 0.001984 0 0 FBXL19 54620 broad.mit.edu 37 16 30958127 30958127 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:30958127C>T ENST00000338343.4 + 10 2091 c.1704C>T c.(1702-1704)tcC>tcT p.S568S FBXL19_ENST00000471231.2_Silent_p.S276S|FBXL19_ENST00000565690.1_Silent_p.S452S|FBXL19_ENST00000562319.1_Silent_p.S568S|FBXL19_ENST00000380310.2_Silent_p.S588S Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 588 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CAGATGCCTCCCTGCGTCTCC 0.672000 6 18 0 0 0.001168 0 0 SH2D1B 117157 broad.mit.edu 37 1 162368835 162368835 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:162368835C>T ENST00000367929.2 - 3 350 c.241G>A c.(241-243)Gaa>Aaa p.E81K SH2D1B_ENST00000359567.3_Intron NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 81 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) GAGATCAGTTCCTTTAGGCTT 0.408000 35 51 0 0 0.005524 0 0 CNGA1 1259 broad.mit.edu 37 4 47939215 47939215 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:47939215C>T ENST00000402813.3 - 10 1645 c.1503G>A c.(1501-1503)aaG>aaA p.K501K CNGA1_ENST00000358519.4_Silent_p.K432K|CNGA1_ENST00000420489.2_Silent_p.K432K|CNGA1_ENST00000544810.1_Silent_p.K432K|CNGA1_ENST00000514170.1_Silent_p.K432K P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 432 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity p.K432N(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TAATAACCCTCTTTTCCATAT 0.343000 15 61 0 0 0.003163 0 0 TXNRD2 10587 broad.mit.edu 37 22 19865681 19865681 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:19865681C>T ENST00000535882.1 - 16 1373 c.1374G>A c.(1372-1374)ctG>ctA p.L458L TXNRD2_ENST00000400518.1_Silent_p.L429L|TXNRD2_ENST00000542719.1_Silent_p.L429L|TXNRD2_ENST00000400519.1_Silent_p.L458L|TXNRD2_ENST00000400521.1_Silent_p.L459L|TXNRD2_ENST00000400525.1_Silent_p.L436L Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 459 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) GGCCCAGCACCAGCTGTGGGG 0.617000 8 23 0 0 0.004482 0 0 ATF2 1386 broad.mit.edu 37 2 175957886 175957886 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:175957886C>T ENST00000264110.2 - 12 1386 c.1088G>A c.(1087-1089)aGa>aAa p.R363K ATF2_ENST00000409635.1_Missense_Mutation_p.R305K|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R305K|ATF2_ENST00000426833.3_Missense_Mutation_p.R345K|ATF2_ENST00000392544.1_Missense_Mutation_p.R363K|ATF2_ENST00000409437.1_Missense_Mutation_p.R247K|ATF2_ENST00000538946.1_Missense_Mutation_p.R345K|ATF2_ENST00000487334.2_3'UTR NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 363 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) AGCTGCTGCTCTATTTCGCTC 0.438000 12 40 0 0 0.020292 0 0 STOX2 56977 broad.mit.edu 37 4 184931088 184931088 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:184931088C>T ENST00000308497.4 + 3 2532 c.1097C>T c.(1096-1098)tCc>tTc p.S366F STOX2_ENST00000438269.1_Missense_Mutation_p.S366F NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 366 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CATCGGAAGTCCCATGGAAAG 0.502000 4 19 0 0 0.014758 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153309724 153309724 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:153309724G>A ENST00000368739.3 - 8 1222 c.864C>T c.(862-864)gtC>gtT p.V288V PGLYRP4_ENST00000359650.5_Silent_p.V292V Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 292 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(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGGAGCCTTGGACATTCCAGC 0.547000 7 41 0 0 0.001984 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602718 96602718 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:96602718C>T ENST00000371321.3 + 7 1168 c.1086C>T c.(1084-1086)atC>atT p.I362I CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 362 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCGACCTCATCCCCACCAGCC 0.537000 21 86 0 0 0.012319 0 0 CST6 1474 broad.mit.edu 37 11 65780821 65780821 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:65780821C>T ENST00000312134.2 + 3 604 c.400C>T c.(400-402)Ccc>Tcc p.P134S NM_001323.3 NP_001314.1 Q15828 CYTM_HUMAN cystatin E/M 134 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity large_intestine(1)|lung(1)|ovary(1) 3 CCTTGTGGTTCCCTGGCAGAA 0.587000 29 90 0 0 0.010818 0 0 MYO3A 53904 broad.mit.edu 37 10 26377279 26377279 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:26377279G>A ENST00000265944.5 + 15 1673 c.1507G>A c.(1507-1509)Gga>Aga p.G503R MYO3A_ENST00000543632.1_Missense_Mutation_p.G503R NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 503 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGCGGTAGTGGGAGCACAGAT 0.393000 15 35 0 0 0.004990 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439530 150439530 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:150439530G>A ENST00000358647.3 + 3 670 c.303G>A c.(301-303)ggG>ggA p.G101G GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGAACATCGGGGACTGCTACC 0.577000 17 91 0 0 0.007413 0 0 HABP2 3026 broad.mit.edu 37 10 115336971 115336971 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:115336971C>T ENST00000351270.3 + 5 490 c.394C>T c.(394-396)Ccc>Tcc p.P132S HABP2_ENST00000541666.1_Missense_Mutation_p.P132S|HABP2_ENST00000542051.1_Missense_Mutation_p.P106S|HABP2_ENST00000537906.1_Silent_p.L120L NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 132 EGF-like 2. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CCAGAGTCCTCCCTACTACCG 0.522000 30 59 0 0 0.007291 0 0 ZNF268 10795 broad.mit.edu 37 12 133779306 133779306 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:133779306C>T ENST00000536435.2 + 6 1364 c.1034C>T c.(1033-1035)tCa>tTa p.S345L ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Missense_Mutation_p.S184L|ZNF268_ENST00000228289.5_Missense_Mutation_p.S345L|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AGTTTCCATTCACAGCTTGTT 0.398000 7 8 0 0 0.001984 0 0 ZNF716 441234 broad.mit.edu 37 7 57528444 57528444 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:57528444T>A ENST00000420713.1 + 4 389 c.277T>A c.(277-279)Ttc>Atc p.F93I NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 ATGTTCTCATTTCACCCAAGA 0.318000 6 17 0 0 0.001168 0 0 OBSCN 84033 broad.mit.edu 37 1 228487138 228487138 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:228487138G>A ENST00000570156.2 + 50 13463 c.13389G>A c.(13387-13389)caG>caA p.Q4463Q OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Silent_p.Q1153Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3506 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) GTGAGCTGCAGATTCATGGCC 0.552000 46 54 0 0 0.014410 0 0 SORCS3 22986 broad.mit.edu 37 10 107015513 107015513 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:107015513G>A ENST00000369701.3 + 24 3518 c.3291G>A c.(3289-3291)ctG>ctA p.L1097L NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1097 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) AGTTTGAGCTGAAGCCGGGGG 0.448000 15 28 0 0 0.008871 0 0 RPTN 126638 broad.mit.edu 37 1 152129412 152129412 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:152129412C>T ENST00000316073.3 - 3 227 c.163G>A c.(163-165)Gaa>Aaa p.E55K NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 55 EF-hand 2.|S-100-like (By similarity). 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 AAGATGGTTTCCACAGTCTCT 0.418000 18 20 0 0 0.008871 0 0 CEP104 9731 broad.mit.edu 37 1 3746408 3746408 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:3746408T>A ENST00000378230.3 - 14 2314 c.1990A>T c.(1990-1992)Att>Ttt p.I664F NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 664 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 CCCTCAAAAATTGTTTTGTAG 0.438000 47 118 0 0 0.014410 0 0 OPN1SW 611 broad.mit.edu 37 7 128415840 128415840 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:128415840C>T ENST00000249389.2 - 1 4 c.5G>A c.(4-6)aGa>aAa p.R2K NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 2 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 CGACATTTTTCTCATGGATGC 0.507000 18 26 0 0 0.004990 0 0 DNAJC10 54431 broad.mit.edu 37 2 183605028 183605028 + Silent SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:183605028T>C ENST00000264065.6 + 12 1405 c.990T>C c.(988-990)ttT>ttC p.F330F NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 330 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTTTCTAGTTTCTCAACTCAT 0.249000 8 21 0 0 0.003080 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686637 108686637 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:108686637C>T ENST00000397688.2 - 3 466 c.97G>A c.(97-99)Gaa>Aaa p.E33K CMKLR1_ENST00000412676.1_Missense_Mutation_p.E35K|CMKLR1_ENST00000312143.7_Missense_Mutation_p.E35K|CMKLR1_ENST00000550402.1_Missense_Mutation_p.E35K|CMKLR1_ENST00000552995.1_Missense_Mutation_p.E33K NM_004072.2 NP_004063.1 Q99788 CML1_HUMAN chemokine-like receptor 1 35 chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 ACCCTGGCTTCCAAGGGGGAT 0.483000 13 30 0 0 0.016723 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43737504 43737504 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:43737504G>A ENST00000377564.3 + 3 767 c.374G>A c.(373-375)cGa>cAa p.R125Q CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.R125Q NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 125 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CAGTATCGCCGAGAAGAAAGC 0.418000 26 52 0 0 0.019004 0 0 SLC38A4 55089 broad.mit.edu 37 12 47178369 47178369 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:47178369C>T ENST00000447411.1 - 6 655 c.449G>A c.(448-450)gGa>gAa p.G150E SLC38A4_ENST00000266579.4_Missense_Mutation_p.G150E NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 150 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) TCCAATTTTTCCCGGCCATCC 0.333000 8 18 0 0 0.006214 0 0 SPTBN5 51332 broad.mit.edu 37 15 42159820 42159820 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:42159820G>A ENST00000320955.6 - 35 6455 c.6228C>T c.(6226-6228)gcC>gcT p.A2076A NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2076 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) AGCTCCCCAAGGCACTGGTTT 0.577000 48 137 0 0 0.014410 0 0 TUB 7275 broad.mit.edu 37 11 8060574 8060574 + Splice_Site SNP C C T rs150936269 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:8060574C>T ENST00000305253.4 + 1 395 c.155_splice c.e1+1 p.R52_splice RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA|TUB_ENST00000534099.1_Intron NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 0 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane p.R52W(1) breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CCGAAGAGATCGGTAAGCTTT 0.577000 10 32 0 0 0.006214 0 0 GABRQ 55879 broad.mit.edu 37 X 151821087 151821087 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:151821087C>T ENST00000370306.2 + 9 1262 c.1242C>T c.(1240-1242)ctC>ctT p.L414L NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 414 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CGGAAAGCCTCGGTTCTTTGA 0.632000 26 17 0 0 0.021523 0 0 PCNXL2 80003 broad.mit.edu 37 1 233386576 233386576 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:233386576C>T ENST00000258229.8 - 8 2365 c.2131G>A c.(2131-2133)Gaa>Aaa p.E711K PCNXL2_ENST00000430153.1_Missense_Mutation_p.E10K NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 711 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GATCTAATTTCCCCTGTAAAA 0.323000 3 8 0 0 0.004672 0 0 LTBP2 4053 broad.mit.edu 37 14 74969619 74969619 + Missense_Mutation SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:74969619C>A ENST00000261978.4 - 34 5293 c.4907G>T c.(4906-4908)tGc>tTc p.C1636F LTBP2_ENST00000556690.1_Missense_Mutation_p.C1592F NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1636 TB 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGCCACGTTGCACAGCTGAGC 0.612000 14 47 4.7546e-09 4.98241e-09 0.004007 1 0 TANGO6 79613 broad.mit.edu 37 16 68901015 68901015 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:68901015C>T ENST00000261778.1 + 4 898 c.886C>T c.(886-888)Cgg>Tgg p.R296W NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) GATGAGGTGTCGGGCCCCAGC 0.502000 40 87 0 0 0.007835 0 0 NRIP1 8204 broad.mit.edu 37 21 16340213 16340213 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:16340213G>A ENST00000400202.1 - 3 1013 c.301C>T c.(301-303)Ctg>Ttg p.L101L NRIP1_ENST00000318948.4_Silent_p.L101L|NRIP1_ENST00000400199.1_Silent_p.L101L P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 101 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GAATCAGACAGCCTCTTCCGC 0.458000 9 29 0 0 0.008291 0 0 CECR6 27439 broad.mit.edu 37 22 17600315 17600315 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:17600315T>C ENST00000331437.3 - 1 1828 c.1703A>G c.(1702-1704)tAt>tGt p.Y568C CECR6_ENST00000399875.1_Missense_Mutation_p.Y213C NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 568 haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GGTGTTGACATAGCCATGAGC 0.627000 3 7 0 0 0.004672 0 0 VPS36 51028 broad.mit.edu 37 13 52990024 52990024 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:52990024G>A ENST00000378060.4 - 14 1129 c.1102C>T c.(1102-1104)Cgt>Tgt p.R368C NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 368 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 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;3.14e-08) GAGTCATCACGGCAAAGATGG 0.388000 54 149 0 0 0.014410 0 0 SETD1A 9739 broad.mit.edu 37 16 30995335 30995335 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:30995335C>T ENST00000262519.8 + 19 5801 c.5115C>T c.(5113-5115)tcC>tcT p.S1705S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1705 Post-SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 GCCGGGGCTCCCTAAACTGAG 0.612000 7 11 0 0 0.001984 0 0 CTTN 2017 broad.mit.edu 37 11 70275245 70275245 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:70275245G>A ENST00000301843.8 + 14 1322 c.1116G>A c.(1114-1116)gaG>gaA p.E372E CTTN_ENST00000346329.3_Silent_p.E335E|CTTN_ENST00000376561.3_Silent_p.E335E|CTTN_ENST00000538675.1_Silent_p.E56E NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 372 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) CGGAGGCGGAGAGAGCCCAGC 0.597000 10 48 0 0 0.006214 0 0 GFRA1 2674 broad.mit.edu 37 10 117849350 117849350 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:117849350T>A ENST00000439649.3 - 8 1451 c.1084A>T c.(1084-1086)Acc>Tcc p.T362S GFRA1_ENST00000355422.6_Missense_Mutation_p.T367S|GFRA1_ENST00000369236.1_Missense_Mutation_p.T362S|GFRA1_ENST00000544592.1_Missense_Mutation_p.T246S NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 367 Poly-Thr. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GCAGTGGTGGTAGTGGCAGTG 0.532000 17 29 0 0 0.004990 0 0 FREM2 341640 broad.mit.edu 37 13 39338470 39338470 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:39338470C>T ENST00000280481.7 + 3 5509 c.5293C>T c.(5293-5295)Cgt>Tgt p.R1765C NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1765 Calx-beta 1. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.R1765C(1) 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) CCAGAATTTTCGTCTGAATTG 0.348000 17 47 0 0 0.010504 0 0 PTGER2 5732 broad.mit.edu 37 14 52781928 52781928 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:52781928A>G ENST00000245457.5 + 1 816 c.662A>G c.(661-663)aAc>aGc p.N221S PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 221 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GTCATTCTCAACCTCATCCGC 0.667000 12 33 0 0 0.013537 0 0 ABCC11 85320 broad.mit.edu 37 16 48249135 48249135 + Missense_Mutation SNP C C T rs150392452 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:48249135C>T ENST00000394747.1 - 7 1421 c.1072G>A c.(1072-1074)Gag>Aag p.E358K ABCC11_ENST00000394748.1_Missense_Mutation_p.E358K|ABCC11_ENST00000537808.1_Missense_Mutation_p.E358K|ABCC11_ENST00000356608.2_Missense_Mutation_p.E358K|ABCC11_ENST00000353782.5_Missense_Mutation_p.E358K NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 358 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AATGGTTTCTCCCATGTGTAC 0.478000 11 43 0 0 0.010729 0 0 SHBG 6462 broad.mit.edu 37 17 7536267 7536267 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:7536267G>A ENST00000380450.4 + 7 1081 c.1050G>A c.(1048-1050)ggG>ggA p.G350G SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Silent_p.G292G|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575903.1_Silent_p.G332G|SHBG_ENST00000572262.1_Silent_p.G238G|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000570547.1_Intron NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 350 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) TCTTCCTGGGGGCTTTACCAG 0.557000 OREG0024140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 15 0 0 0.010729 0 0 CD109 135228 broad.mit.edu 37 6 74497110 74497110 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:74497110C>T ENST00000437994.2 + 21 2922 c.2491C>T c.(2491-2493)Cct>Tct p.P831S CD109_ENST00000287097.5_Missense_Mutation_p.P831S|CD109_ENST00000422508.2_Missense_Mutation_p.P754S NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 831 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGAGAAATTCCTATCACAGT 0.448000 21 20 0 0 0.014323 0 0 RSPH10B 222967 broad.mit.edu 37 7 5966180 5966180 + Splice_Site SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:5966180C>T ENST00000405415.1 - 20 2819 c.e20-1 RSPH10B_ENST00000404406.1_Splice_Site|RSPH10B_ENST00000539903.1_Splice_Site|RSPH10B_ENST00000337579.3_Splice_Site|RSPH10B_ENST00000441023.2_Splice_Site B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) GATGTTCAGCCTAAAAGCAAA 0.453000 24 43 0 0 0.004656 0 0 TPPP3 51673 broad.mit.edu 37 16 67424844 67424844 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:67424844G>A ENST00000564104.1 - 1 1012 c.171C>T c.(169-171)atC>atT p.I57I TPPP3_ENST00000562206.1_Silent_p.I57I|TPPP3_ENST00000290942.5_Silent_p.I57I|TPPP3_ENST00000393957.2_Silent_p.I57I Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 57 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TGGAGAAGACGATGTCCACAT 0.577000 10 26 0 0 0.010729 0 0 HSF4 3299 broad.mit.edu 37 16 67197714 67197714 + Translation_Start_Site SNP C C A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:67197714C>A ENST00000264009.8 + 0 427 RP11-5A19.5_ENST00000580114.1_Missense_Mutation_p.R143S|HSF4_ENST00000421453.1_De_novo_Start_OutOfFrame|FBXL8_ENST00000258200.3_Silent_p.L372L|FBXL8_ENST00000519917.1_Silent_p.L372L|RP11-5A19.5_ENST00000518753.1_3'UTR NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGCCTACGCTCGTGGCGTGAT 0.697000 11 35 3.27435e-08 3.42066e-08 0.020292 1 0 GPR112 139378 broad.mit.edu 37 X 135427812 135427812 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:135427812C>T ENST00000394143.1 + 6 2238 c.1947C>T c.(1945-1947)ttC>ttT p.F649F GPR112_ENST00000412101.1_Silent_p.F444F|GPR112_ENST00000394141.1_Silent_p.F444F|GPR112_ENST00000370652.1_Silent_p.F649F|GPR112_ENST00000287534.4_Silent_p.F586F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 649 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) CCCATCTGTTCTCCAGCAATG 0.473000 4 5 0 0 0.014758 0 0 ACRBP 84519 broad.mit.edu 37 12 6747518 6747518 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:6747518C>T ENST00000229243.2 - 10 1655 c.1562G>A c.(1561-1563)gGc>gAc p.G521D ACRBP_ENST00000414226.2_Missense_Mutation_p.G488D NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 521 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 CTCACTTTTGCCAGGGCTCAG 0.562000 22 54 0 0 0.014323 0 0 ROR2 4920 broad.mit.edu 37 9 94486585 94486585 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:94486585C>T ENST00000375708.3 - 9 2389 c.2191G>A c.(2191-2193)Gag>Aag p.E731K ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E591K NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 731 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.E731K(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTGGGGAACTCGTTCCAGCAC 0.647000 23 67 0 0 0.014323 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209950711 209950711 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:209950711G>A ENST00000367024.1 + 12 1584 c.1068G>A c.(1066-1068)agG>agA p.R356R TRAF3IP3_ENST00000477431.1_Silent_p.R92R|TRAF3IP3_ENST00000010338.4_Silent_p.R336R|TRAF3IP3_ENST00000367023.1_Silent_p.R92R|TRAF3IP3_ENST00000400959.3_Silent_p.R336R|TRAF3IP3_ENST00000367025.3_Silent_p.R356R|TRAF3IP3_ENST00000367026.3_Silent_p.R336R Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 356 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAGATAGCAGGGACTTACAGA 0.537000 15 64 0 0 0.004007 0 0 DAB1 1600 broad.mit.edu 37 1 57537993 57537993 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:57537993C>T ENST00000371236.2 - 5 664 c.401G>A c.(400-402)gGg>gAg p.G134E DAB1_ENST00000414851.2_Missense_Mutation_p.G134E|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.G134E|DAB1_ENST00000371230.1_Missense_Mutation_p.G134E|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.G134E|DAB1_ENST00000420954.2_Missense_Mutation_p.G134E O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 134 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 TCTGTGATTCCCTTCCTTCCC 0.478000 8 28 0 0 0.008291 0 0 NRXN1 9378 broad.mit.edu 37 2 50724508 50724508 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:50724508C>T ENST00000404971.1 - 15 4301 c.2962G>A c.(2962-2964)Gat>Aat p.D988N NRXN1_ENST00000401669.2_Missense_Mutation_p.D948N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D948N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.D940N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D948N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D940N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 948 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCATTTCCATCCCCACTGTTA 0.358000 10 26 0 0 0.008291 0 0 NOP2 4839 broad.mit.edu 37 12 6669901 6669901 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:6669901C>T ENST00000541778.1 - 13 1876 c.1388G>A c.(1387-1389)gGg>gAg p.G463E NOP2_ENST00000399466.2_Missense_Mutation_p.G463E|NOP2_ENST00000537442.1_Missense_Mutation_p.G467E|NOP2_ENST00000322166.5_Missense_Mutation_p.G467E|NOP2_ENST00000545200.1_Missense_Mutation_p.G463E|NOP2_ENST00000382421.3_Missense_Mutation_p.G500E|NOP2_ENST00000542015.1_5'UTR P46087 NOP2_HUMAN NOP2 nucleolar protein 467 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 GGAGATGACCCCAGTGCCACT 0.557000 3 26 0 0 0.009096 0 0 ZNF620 253639 broad.mit.edu 37 3 40558019 40558019 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:40558019G>A ENST00000314529.6 + 5 1083 c.934G>A c.(934-936)Gaa>Aaa p.E312K ZNF620_ENST00000418905.1_Missense_Mutation_p.E198K NM_175888.3 NP_787084.1 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TGAATGTAACGAATGTTGGAA 0.473000 19 47 0 0 0.007413 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21794027 21794027 + Nonsense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:21794027G>A ENST00000206660.6 + 16 2405 c.2405G>A c.(2404-2406)tGg>tAg p.W802* RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.W161*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.W764*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.W802*|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000382933.4_Intron Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 802 C2. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AACGAGCTGTGGATTGAAATC 0.507000 10 24 0 0 0.010729 0 0 OR4M1 441670 broad.mit.edu 37 14 20249248 20249248 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20249248C>T ENST00000315957.4 + 1 848 c.767C>T c.(766-768)tCc>tTc p.S256F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGGGCCATCCATCTACATT 0.423000 15 93 0 0 0.003163 0 0 TRBC2 28638 broad.mit.edu 37 7 142499006 142499006 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:142499006C>T ENST00000466254.1 + 0 282 CAACCACTTCCGCTGTCAAGT 0.632000 29 99 0 0 0.009535 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262645 69262645 + Silent SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:69262645G>T ENST00000408913.2 - 1 545 c.367C>A c.(367-369)Cga>Aga p.R123R Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 0 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGACGTGGTCGACAGGTGCCC 0.751000 8 18 0.00307968 0.0031757 0.003080 1 0 ZBTB7C 201501 broad.mit.edu 37 18 45567077 45567077 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:45567077C>T ENST00000588982.1 - 3 903 c.402G>A c.(400-402)ggG>ggA p.G134G ZBTB7C_ENST00000332053.2_Silent_p.G134G|ZBTB7C_ENST00000590800.1_Silent_p.G134G|ZBTB7C_ENST00000535628.2_Silent_p.G134G|ZBTB7C_ENST00000586438.1_Silent_p.G134G A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 134 Asp-rich.|Glu-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 catcctcctcccccccgtccc 0.572000 9 25 0 0 0.004482 0 0 SERPINB9 5272 broad.mit.edu 37 6 2900804 2900804 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:2900804G>A ENST00000380698.4 - 2 131 c.42C>T c.(40-42)cgC>cgT p.R14R NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 14 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TCTTTAAAAGGCGTATGGCAA 0.473000 88 148 0 0 0.014410 0 0 ZFHX3 463 broad.mit.edu 37 16 72993158 72993158 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:72993158G>A ENST00000268489.5 - 2 1559 c.887C>T c.(886-888)tCg>tTg p.S296L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 296 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGTCACAAACGAACGGACGTA 0.493000 19 60 0 0 0.007413 0 0 DLL4 54567 broad.mit.edu 37 15 41229024 41229024 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:41229024G>A ENST00000249749.5 + 9 2115 c.1839G>A c.(1837-1839)ttG>ttA p.L613L NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 613 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) ACCACACATTGGACTATAATC 0.557000 21 41 0 0 0.014323 0 0 PRB2 653247 broad.mit.edu 37 12 11546281 11546281 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:11546281C>T ENST00000389362.4 - 3 766 c.731G>A c.(730-732)gGa>gAa p.G244E PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGGGGTGGTCCTTGTGGCTT 0.602000 75 337 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38936058 38936058 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:38936058G>A ENST00000302328.3 - 15 2999 c.2801C>T c.(2800-2802)gCa>gTa p.A934V SCN11A_ENST00000456224.3_Missense_Mutation_p.A934V|SCN11A_ENST00000444237.2_Missense_Mutation_p.A934V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A934V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 934 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GATGCGCTGTGCATTATCTTC 0.488000 43 127 0 0 0.014410 0 0 USP19 10869 broad.mit.edu 37 3 49156456 49156456 + Splice_Site SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:49156456T>C ENST00000453664.1 - 2 441 c.124_splice c.e2+1 p.K41_splice USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Splice_Site_p.K41_splice|USP19_ENST00000398892.3_Splice_Site_p.K41_splice|USP19_ENST00000398898.2_Splice_Site_p.K41_splice|USP19_ENST00000434032.2_Splice_Site_p.K41_splice|USP19_ENST00000398888.2_Splice_Site_p.K41_splice NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 41 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACTCCCACCTTTCCTAGGAT 0.517000 26 108 0 0 0.008361 0 0 MYRIP 25924 broad.mit.edu 37 3 40231917 40231917 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:40231917C>T ENST00000302541.6 + 10 1970 c.1628C>T c.(1627-1629)tCc>tTc p.S543F MYRIP_ENST00000396217.3_Missense_Mutation_p.S454F|MYRIP_ENST00000444716.1_Missense_Mutation_p.S543F|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.S356F|MYRIP_ENST00000425621.1_Missense_Mutation_p.S543F NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 543 Actin-binding.|Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GAACCATCTTCCCCCAGCGCC 0.597000 16 30 0 0 0.004990 0 0 NIPBL 25836 broad.mit.edu 37 5 37006515 37006515 + Silent SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:37006515T>A ENST00000282516.8 + 17 4411 c.3912T>A c.(3910-3912)gtT>gtA p.V1304V NIPBL_ENST00000448238.2_Silent_p.V1304V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1304 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) TGGAGAGAGTTACAAAATCAG 0.333000 14 19 0 0 0.004007 0 0 SLC1A7 6512 broad.mit.edu 37 1 53558435 53558435 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:53558435G>A ENST00000371494.4 - 7 949 c.822C>T c.(820-822)ttC>ttT p.F274F NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 274 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) CCGCAATGAGGAACACAATGC 0.667000 23 63 0 0 0.018920 0 0 FGF10 2255 broad.mit.edu 37 5 44305142 44305142 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:44305142C>T ENST00000264664.4 - 3 696 c.582G>A c.(580-582)agG>agA p.R194R NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 194 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGGTGTTTTTCCTTCGTGTTT 0.438000 10 50 0 0 0.006214 0 0 NNT 23530 broad.mit.edu 37 5 43628344 43628344 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:43628344C>T ENST00000264663.5 + 7 1040 c.819C>T c.(817-819)ccC>ccT p.P273P NNT_ENST00000512996.2_Silent_p.P142P|NNT_ENST00000344920.4_Silent_p.P273P NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 273 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GTGCTGAGCCCTTGGAGGTGG 0.433000 15 64 0 0 0.003163 0 0 SIRPG 55423 broad.mit.edu 37 20 1629916 1629916 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:1629916C>T ENST00000381580.1 - 2 292 c.113G>A c.(112-114)gGa>gAa p.G38E SIRPG_ENST00000344103.4_Missense_Mutation_p.G71E|SIRPG_ENST00000381583.2_Missense_Mutation_p.G71E|SIRPG_ENST00000216927.4_Missense_Mutation_p.G71E|SIRPG_ENST00000303415.3_Missense_Mutation_p.G71E Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 71 Ig-like V-type. 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 CCGGCCTGGTCCAACTCCTCT 0.512000 16 53 0 0 0.006122 0 0 WRNIP1 56897 broad.mit.edu 37 6 2784557 2784557 + Splice_Site SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:2784557G>T ENST00000380769.4 + 6 1213 c.e6-1 WRNIP1_ENST00000380773.4_Splice_Site|WRNIP1_ENST00000380764.1_Splice_Site|WRNIP1_ENST00000380771.4_Splice_Site Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 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) GTGTGTGGCAGGTCTGGCAGA 0.507000 13 19 1.15088e-07 1.20138e-07 0.004007 1 0 LIN54 132660 broad.mit.edu 37 4 83905883 83905883 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:83905883G>A ENST00000340417.3 - 2 492 c.115C>T c.(115-117)Ccc>Tcc p.P39S LIN54_ENST00000505397.1_Missense_Mutation_p.P39S|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000442461.2_Intron|LIN54_ENST00000395283.2_Missense_Mutation_p.P39S|LIN54_ENST00000506560.1_Missense_Mutation_p.P39S|LIN54_ENST00000395282.2_Missense_Mutation_p.P39S|LIN54_ENST00000510557.1_Intron NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 39 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) GTCTCCATGGGAATTGGGGAT 0.418000 17 58 0 0 0.004990 0 0 USP54 159195 broad.mit.edu 37 10 75289602 75289602 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:75289602G>A ENST00000339859.4 - 14 1996 c.1896C>T c.(1894-1896)agC>agT p.S632S USP54_ENST00000428547.1_Silent_p.S482S|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.S632S|USP54_ENST00000408019.1_Silent_p.S632S Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 632 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) TGTACTGGGGGCTTGGTCCAC 0.488000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 100 0 0 0.012213 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676528 65676528 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:65676528G>A ENST00000352385.2 - 20 3781 c.3572C>T c.(3571-3573)gCc>gTc p.A1191V IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1191 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TGGCCCGGGGGCTGCCAGCTC 0.667000 10 22 0 0 0.006214 0 0 DHX36 170506 broad.mit.edu 37 3 153998449 153998449 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:153998449T>A ENST00000496811.1 - 22 2566 c.2486A>T c.(2485-2487)aAg>aTg p.K829M DHX36_ENST00000308361.6_Missense_Mutation_p.K800M|DHX36_ENST00000544526.1_Missense_Mutation_p.K815M|DHX36_ENST00000329463.5_Missense_Mutation_p.K815M NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 829 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTAATTATCTTCTCATTATC 0.323000 24 78 0 0 0.004656 0 0 OPTC 26254 broad.mit.edu 37 1 203467944 203467944 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:203467944G>A ENST00000367222.2 + 4 622 c.506G>A c.(505-507)aGg>aAg p.R169K NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 169 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) AGCCGTATCAGGGCCGAAGAC 0.542000 10 69 0 0 0.010729 0 0 CHAD 1101 broad.mit.edu 37 17 48545403 48545403 + Nonsense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:48545403T>A ENST00000508540.1 - 1 924 c.772A>T c.(772-774)Aag>Tag p.K258* ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Nonsense_Mutation_p.K258*|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 258 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) GAGCTCACCTTCTCCAGGTTG 0.622000 43 42 0 0 0.009718 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73938417 73938417 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:73938417C>T ENST00000476977.1 + 8 2714 c.1023C>T c.(1021-1023)ttC>ttT p.F341F GTF2IRD1_ENST00000424337.2_Silent_p.F341F|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.F341F|GTF2IRD1_ENST00000455841.2_Silent_p.F373F Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 341 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGGACGCCTTCATAAAGGAAA 0.612000 4 15 0 0 0.009096 0 0 CR1 1378 broad.mit.edu 37 1 207751155 207751155 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:207751155C>T ENST00000367049.4 + 29 4543 c.4543C>T c.(4543-4545)Cct>Tct p.P1515S RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1065S|CR1_ENST00000367051.1_Missense_Mutation_p.P1065S|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.P1065S|CR1_ENST00000400960.2_Missense_Mutation_p.P1065S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1065 Sushi 23. 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 TCCAGGAATTCCTTGTGGGCT 0.483000 13 11 0 0 0.013537 0 0 ABCC4 10257 broad.mit.edu 37 13 95726485 95726485 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:95726485G>A ENST00000376887.4 - 23 3014 c.2900C>T c.(2899-2901)tCc>tTc p.S967F ABCC4_ENST00000412704.1_Missense_Mutation_p.S920F NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 967 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CAGAATCAGGGACCCAAAGGC 0.413000 6 22 0 0 0.001984 0 0 SAMD9 54809 broad.mit.edu 37 7 92731787 92731787 + Silent SNP G G T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:92731787G>T ENST00000379958.2 - 3 3893 c.3624C>A c.(3622-3624)atC>atA p.I1208I NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1208 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGAGAATTTGGATTGTGTAAA 0.348000 20 50 7.45023e-12 7.84965e-12 0.010504 1 0 NOTCH4 4855 broad.mit.edu 37 6 32182030 32182030 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:32182030G>A ENST00000375023.3 - 13 2162 c.2024C>T c.(2023-2025)tCc>tTc p.S675F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 675 EGF-like 17. 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 CACACATGAGGATCTGGTTGT 0.577000 138 507 0 0 0.014410 0 0 KL 9365 broad.mit.edu 37 13 33628071 33628071 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:33628071A>G ENST00000380099.3 + 2 995 c.987A>G c.(985-987)aaA>aaG p.K329K KL_ENST00000426690.2_Silent_p.K22K|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 329 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GGTTTGCCAAACCCGTATTTA 0.403000 18 62 0 0 0.007413 0 0 CUX2 23316 broad.mit.edu 37 12 111758289 111758289 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:111758289C>T ENST00000261726.6 + 17 2630 c.2476C>T c.(2476-2478)Cgc>Tgc p.R826C NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 826 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CGCCTGGCCCCGCGGGGACGA 0.771000 3 15 0 0 0.004672 0 0 ZNF425 155054 broad.mit.edu 37 7 148802164 148802164 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:148802164C>T ENST00000378061.2 - 4 931 c.799G>A c.(799-801)Gtc>Atc p.V267I NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 267 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCGGTGTGGACAACCTGATGA 0.612000 14 65 0 0 0.016723 0 0 TTN 7273 broad.mit.edu 37 2 179612157 179612157 + Silent SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:179612157T>G ENST00000360870.5 - 46 15192 c.14970A>C c.(14968-14970)ccA>ccC p.P4990P TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1099 Ig-like 30. 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) CAGATGATGGTGGGGTATAAA 0.378000 3 10 0 0 0.004672 0 0 MUC5B 727897 broad.mit.edu 37 11 1263670 1263670 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:1263670G>A ENST00000447027.1 + 31 5627 c.5569G>A c.(5569-5571)Ggg>Agg p.G1857R MUC5B_ENST00000529681.1_Missense_Mutation_p.G1854R|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1854 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCTGGAGACGGGGCTGACCTG 0.592000 12 36 0 0 0.010729 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887647 30887647 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:30887647C>T ENST00000392772.2 - 11 1109 c.832G>A c.(832-834)Gag>Aag p.E278K SEC14L4_ENST00000540456.1_Missense_Mutation_p.E317K|SEC14L4_ENST00000381982.3_Missense_Mutation_p.E332K|SEC14L4_ENST00000255858.7_Missense_Mutation_p.E332K Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 332 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) TCCGTCATCTCCCTAGCACTC 0.607000 30 93 0 0 0.010818 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801540 185801540 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:185801540C>T ENST00000302277.6 + 4 2011 c.1417C>T c.(1417-1419)Cta>Tta p.L473L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 473 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 AAATAATAATCTAGATAAAAA 0.348000 6 27 0 0 0.001168 0 0 DGKI 9162 broad.mit.edu 37 7 137293795 137293795 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:137293795G>A ENST00000453654.1 - 10 723 c.184C>T c.(184-186)Cgt>Tgt p.R62C DGKI_ENST00000288490.5_Missense_Mutation_p.R362C|DGKI_ENST00000446122.1_Missense_Mutation_p.R362C|DGKI_ENST00000424189.2_Missense_Mutation_p.R362C O75912 DGKI_HUMAN diacylglycerol kinase, iota 362 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ACAAAAGGACGACCTTTGTTT 0.453000 3 11 0 0 0.009096 0 0 FPGS 2356 broad.mit.edu 37 9 130569923 130569923 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:130569923G>A ENST00000373245.1 + 8 750 c.700G>A c.(700-702)Gat>Aat p.D234N FPGS_ENST00000373247.2_Missense_Mutation_p.D234N|FPGS_ENST00000373225.3_Missense_Mutation_p.D184N|FPGS_ENST00000393706.2_Missense_Mutation_p.D208N|FPGS_ENST00000460181.1_3'UTR Q05932 FOLC_HUMAN folylpolyglutamate synthase 234 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity p.D234N(1) endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) CCTCCTGGGGGATACGGTGGA 0.602000 7 42 0 0 0.003080 0 0 OSBP 5007 broad.mit.edu 37 11 59368079 59368079 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:59368079T>A ENST00000263847.1 - 7 1680 c.1201A>T c.(1201-1203)Acc>Tcc p.T401S NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 401 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TCCTTTTTGGTCTCCTCCAGC 0.418000 16 38 0 0 0.004990 0 0 OR4D9 390199 broad.mit.edu 37 11 59282709 59282709 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:59282709G>A ENST00000329328.3 + 1 324 c.324G>A c.(322-324)ggG>ggA p.G108G NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 ACCTTCTGGGGGGAGCAGACG 0.488000 17 64 0 0 0.004990 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926572 22926572 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:22926572C>T ENST00000261374.3 + 2 1227 c.793C>T c.(793-795)Ccg>Tcg p.P265S NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 265 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity p.P265S(1) breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GCAGTACTTCCCGCTAGCTCA 0.607000 54 135 0 0 0.014410 0 0 MYF6 4618 broad.mit.edu 37 12 81101549 81101549 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:81101549G>A ENST00000228641.3 + 1 273 c.51G>A c.(49-51)ggG>ggA p.G17G NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 17 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 p.G17G(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 ACTTGGATGGGGAAAATGTTA 0.502000 12 74 0 0 0.003163 0 0 HBB 3043 broad.mit.edu 37 11 5247936 5247936 + Silent SNP C C T rs34446260 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:5247936C>T ENST00000335295.3 - 2 361 c.186G>A c.(184-186)aaG>aaA p.K62K NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 62 K -> E (in N-Seatlle).|K -> M (in Bologna; O(2) affinity down).|K -> N (in Hikari). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) TGCCATGAGCCTTCACCTTAG 0.552000 Sickle Cell Trait 22 73 0 0 0.018920 0 0 OR4K2 390431 broad.mit.edu 37 14 20345185 20345185 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20345185A>G ENST00000298642.2 + 1 795 c.759A>G c.(757-759)ccA>ccG p.P253P NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTGGGCCATGCATCTTCA 0.418000 22 71 0 0 0.014323 0 0 FREM2 341640 broad.mit.edu 37 13 39264353 39264353 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr13:39264353G>A ENST00000280481.7 + 1 3088 c.2872G>A c.(2872-2874)Gaa>Aaa p.E958K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 958 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) AGATGTCTTAGAAAATGGGGC 0.463000 12 37 0 0 0.013537 0 0 FAT4 79633 broad.mit.edu 37 4 126238981 126238981 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:126238981C>T ENST00000394329.3 + 1 1428 c.1415C>T c.(1414-1416)cCt>cTt p.P472L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 472 Cadherin 4. 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 AATGACCATCCTCCTGTCTTT 0.557000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 27 0 0 0.008291 0 0 PAPPA2 60676 broad.mit.edu 37 1 176809372 176809372 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:176809372G>A ENST00000367662.3 + 22 6430 c.5266G>A c.(5266-5268)Gga>Aga p.G1756R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1756 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTATGACGGGGGAGACTGCTG 0.542000 9 74 0 0 0.013537 0 0 NBEAL2 23218 broad.mit.edu 37 3 47043884 47043884 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:47043884C>T ENST00000450053.3 + 32 5354 c.5175C>T c.(5173-5175)ttC>ttT p.F1725F NBEAL2_ENST00000383740.2_Silent_p.F4F|NBEAL2_ENST00000292309.5_Silent_p.F1541F NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1725 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TGTCCCAGTTCGAAATGGACA 0.582000 19 74 0 0 0.018920 0 0 TMEM178A 130733 broad.mit.edu 37 2 39931305 39931305 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:39931305C>T ENST00000281961.2 + 2 541 c.485C>T c.(484-486)aCc>aTc p.T162I TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A TTAACCAAGACCATACAGCAA 0.458000 8 32 0 0 0.004482 0 0 TMEM117 84216 broad.mit.edu 37 12 44782223 44782223 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:44782223C>T ENST00000266534.3 + 8 1440 c.1313C>T c.(1312-1314)tCt>tTt p.S438F TMEM117_ENST00000536799.1_Missense_Mutation_p.S334F|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 438 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) AAAAGAAAATCTCCATCAGAA 0.413000 4 18 0 0 0.009096 0 0 IL9R 3581 broad.mit.edu 37 X 155239703 155239703 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:155239703G>A ENST00000424344.3 + 10 1499 c.1132G>A c.(1132-1134)Gag>Aag p.E378K IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.E399K Q01113 IL9R_HUMAN interleukin 9 receptor 399 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGGGTGTACGGAGTGGAGGGT 0.652000 11 25 0 0 0.003163 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197197 26197197 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:26197197C>T ENST00000377831.5 - 2 735 c.282G>A c.(280-282)caG>caA p.Q94Q HIST1H3D_ENST00000356476.2_Silent_p.Q94Q NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 94 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) CGCAGGCCTCCTGCAGCGCCA 0.577000 48 75 0 0 0.014410 0 0 KMT2D 8085 broad.mit.edu 37 12 49428389 49428389 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:49428389G>A ENST00000301067.7 - 36 10415 c.10416C>T c.(10414-10416)aaC>aaT p.N3472N NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTGCCACATGGTTCTGCAGAT 0.552000 4 14 0 0 0.009096 0 0 AGBL2 79841 broad.mit.edu 37 11 47701582 47701582 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:47701582G>A ENST00000525123.1 - 13 2244 c.1959C>T c.(1957-1959)tcC>tcT p.S653S AGBL2_ENST00000298861.4_Silent_p.S653S|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Silent_p.S615S|AGBL2_ENST00000357610.3_Silent_p.S653S NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 653 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GATAACCTAAGGACTTCAGAT 0.393000 14 53 0 0 0.004007 0 0 GPR45 11250 broad.mit.edu 37 2 105859056 105859056 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:105859056G>A ENST00000258456.1 + 1 857 c.741G>A c.(739-741)cgG>cgA p.R247R NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 247 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CGGGCCTGCGGCGCCTGCAGC 0.642000 43 87 0 0 0.014410 0 0 HTR3D 200909 broad.mit.edu 37 3 183756207 183756207 + Silent SNP C C T rs139778852 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:183756207C>T ENST00000382489.3 + 7 930 c.930C>T c.(928-930)ttC>ttT p.F310F HTR3D_ENST00000453435.1_Silent_p.F89F|HTR3D_ENST00000428798.2_Silent_p.F260F|HTR3D_ENST00000334128.2_Silent_p.F135F NM_001163646.1 NP_001157118.1 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine (serotonin) receptor 3D, ionotropic 310 integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2) 10 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTGTCTACTTCGCCCTGTGCC 0.587000 25 60 0 0 0.006320 0 0 USP25 29761 broad.mit.edu 37 21 17183476 17183476 + Missense_Mutation SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:17183476A>G ENST00000285681.2 + 9 1247 c.878A>G c.(877-879)aAc>aGc p.N293S USP25_ENST00000400183.2_Missense_Mutation_p.N293S|USP25_ENST00000285679.6_Missense_Mutation_p.N293S|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000351097.5_Intron Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 293 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) AAGCCAAAGAACCCCATGGTA 0.318000 20 53 0 0 0.016522 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 5 82 0 0 0.001984 0 0 SI 6476 broad.mit.edu 37 3 164750406 164750406 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:164750406G>A ENST00000264382.3 - 24 2702 c.2640C>T c.(2638-2640)atC>atT p.I880I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 880 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) TCAACCCAAGGATTTTTACAG 0.353000 HNSCC(35;0.089) 6 7 0 0 0.001168 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948507 82948507 + Silent SNP A A G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:82948507A>G ENST00000274341.4 - 3 1087 c.237T>C c.(235-237)atT>atC p.I79I HAPLN1_ENST00000514416.1_Silent_p.I79I NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 79 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TGGTCCACTTAATTCGGATTT 0.428000 32 113 0 0 0.006230 0 0 MROH2B 133558 broad.mit.edu 37 5 41018861 41018861 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:41018861G>A ENST00000399564.4 - 26 3055 c.2605C>T c.(2605-2607)Cta>Tta p.L869L MROH2B_ENST00000506092.2_Silent_p.L424L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGTTTTCCTAGGGCGTCCATG 0.453000 12 70 0 0 0.013537 0 0 CRB1 23418 broad.mit.edu 37 1 197326087 197326087 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:197326087C>T ENST00000367400.3 + 5 1250 c.1115C>T c.(1114-1116)tCt>tTt p.S372F CRB1_ENST00000538660.1_Missense_Mutation_p.S372F|CRB1_ENST00000543483.1_Missense_Mutation_p.S71F|CRB1_ENST00000535699.1_Missense_Mutation_p.S303F|CRB1_ENST00000367399.2_Missense_Mutation_p.S260F NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 372 EGF-like 9. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTGCCTTCTTCTTTCAGCTAC 0.473000 14 71 0 0 0.004990 0 0 TRBV28 28559 broad.mit.edu 37 7 142428937 142428937 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:142428937C>T ENST00000390400.2 + 0 317 TTCTGGAGTCCGCCAGCACCA 0.478000 9 6 0 0 0.013537 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656203 167656203 + Missense_Mutation SNP C C T rs141348000 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:167656203C>T ENST00000357154.3 - 12 1317 c.1180G>A c.(1180-1182)Gat>Aat p.D394N SPOCK3_ENST00000421836.2_Missense_Mutation_p.D343N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D394N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D391N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D296N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D391N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D274N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D262N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D394N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D298N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D351N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D391N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D394N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D296N NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 394 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.D391N(1) 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) tcatgaaaatcgccactagca 0.343000 9 16 0 0 0.010729 0 0 EIF5A 1984 broad.mit.edu 37 17 7212975 7212975 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:7212975C>T ENST00000336458.8 + 2 422 c.21C>T c.(19-21)ttC>ttT p.F7F EIF5A_ENST00000336452.7_Silent_p.F37F|EIF5A_ENST00000416016.2_Silent_p.F7F|EIF5A_ENST00000573542.1_Silent_p.F7F|EIF5A_ENST00000572815.1_Silent_p.F7F|EIF5A_ENST00000571955.1_Silent_p.F7F|EIF5A_ENST00000576930.1_Silent_p.F7F|EIF5A_ENST00000419711.2_Silent_p.F7F NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 7 induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 ACTTGGACTTCGAGACAGGAG 0.498000 35 90 0 0 0.017118 0 0 ATP13A4 84239 broad.mit.edu 37 3 193201733 193201733 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:193201733C>T ENST00000342695.4 - 8 1122 c.800G>A c.(799-801)gGg>gAg p.G267E ATP13A4_ENST00000295548.3_Missense_Mutation_p.G267E|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G267E NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 267 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) ACCTTTTCTCCCACATACAGA 0.338000 28 84 0 0 0.008361 0 0 ADCY8 114 broad.mit.edu 37 8 131964190 131964190 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:131964190C>T ENST00000286355.5 - 3 3257 c.1165G>A c.(1165-1167)Gac>Aac p.D389N ADCY8_ENST00000377928.3_Missense_Mutation_p.D389N NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 389 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) TTGGTCATGTCGTTGATCATT 0.532000 HNSCC(32;0.087) 31 55 0 0 0.008361 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058807 152058807 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:152058807C>T ENST00000368806.1 - 3 1415 c.1351G>A c.(1351-1353)Gga>Aga p.G451R NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 451 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGATCTCCTCCTTCTGAGCTT 0.443000 61 83 0 0 0.014410 0 0 FAIM2 23017 broad.mit.edu 37 12 50294991 50294991 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:50294991C>T ENST00000320634.3 - 2 227 c.133G>A c.(133-135)Gag>Aag p.E45K FAIM2_ENST00000550890.1_5'UTR NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 45 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane p.E45Q(1) endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 TTCATCCCCTCCCCAGAGGTG 0.662000 15 31 0 0 0.020292 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29698939 29698939 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:29698939G>A ENST00000304863.4 - 2 763 c.341C>T c.(340-342)tCc>tTc p.S114F NM_006003.2 NP_005994.2 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 114 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) TACCAAATAGGAGAAACCTTT 0.478000 10 48 0 0 0.013537 0 0 RERG 85004 broad.mit.edu 37 12 15262429 15262429 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:15262429C>T ENST00000256953.2 - 5 551 c.215G>A c.(214-216)gGg>gAg p.G72E RERG_ENST00000546331.1_Missense_Mutation_p.G53E|RERG_ENST00000536465.1_Missense_Mutation_p.G72E|RERG_ENST00000538313.1_Missense_Mutation_p.G72E NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 72 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 TCGCATGTGCCCCTCCCTCTG 0.458000 96 312 0 0 0.014410 0 0 CHD5 26038 broad.mit.edu 37 1 6206416 6206416 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:6206416G>A ENST00000262450.3 - 11 1757 c.1658C>T c.(1657-1659)cCc>cTc p.P553L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 553 Chromo 1. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTAGTCAAAGGGGGGCGGCTC 0.557000 27 40 0 0 0.007291 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364855 30364855 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:30364855G>A ENST00000305596.3 - 5 817 c.642C>T c.(640-642)aaC>aaT p.N214N CD2BP2_ENST00000569466.1_Silent_p.N214N NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 214 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 ACACACCAAGGTTGCCCCGGG 0.642000 17 45 0 0 0.010504 0 0 LAMA5 3911 broad.mit.edu 37 20 60901756 60901756 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr20:60901756G>A ENST00000252999.3 - 40 5341 c.5275C>T c.(5275-5277)Cgt>Tgt p.R1759C NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1759 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCTGCCCACGGTGAACGTGG 0.657000 11 34 0 0 0.016723 0 0 ABHD8 79575 broad.mit.edu 37 19 17412216 17412216 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:17412216C>T ENST00000247706.3 - 2 449 c.210G>A c.(208-210)ggG>ggA p.G70G MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 70 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CGGAGAGGTCCCCCTGGGCTG 0.697000 8 28 0 0 0.003080 0 0 BCL3 602 broad.mit.edu 37 19 45254573 45254573 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:45254573C>T ENST00000164227.5 + 2 590 c.346C>T c.(346-348)Ccc>Tcc p.P116S NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 116 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) CATGATGTGCCCCATGGAACA 0.592000 T IGH@ CLL 240 635 0 0 0.014410 0 0 UGT2B10 7365 broad.mit.edu 37 4 69683807 69683807 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:69683807C>T ENST00000265403.7 + 2 806 c.779C>T c.(778-780)tCc>tTc p.S260F UGT2B10_ENST00000458688.2_Missense_Mutation_p.S176F NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 260 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 ATGCGAAACTCCTGGAATTTT 0.388000 10 24 0 0 0.006214 0 0 LRRC31 79782 broad.mit.edu 37 3 169579543 169579543 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:169579543G>A ENST00000316428.5 - 2 291 c.234C>T c.(232-234)ttC>ttT p.F78F LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.F78F|LRRC31_ENST00000264676.5_Silent_p.F78F NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 78 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) GCTTCTGCAGGAAATGCTCAT 0.403000 40 73 0 0 0.006999 0 0 ADCY9 115 broad.mit.edu 37 16 4164632 4164632 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr16:4164632G>A ENST00000294016.3 - 2 1350 c.812C>T c.(811-813)tCg>tTg p.S271L NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 271 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGCTCCGGGCGAGGGGAAGCA 0.617000 5 24 0 0 0.001168 0 0 OAS3 4940 broad.mit.edu 37 12 113386755 113386755 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:113386755T>G ENST00000228928.7 + 6 1298 c.1119T>G c.(1117-1119)aaT>aaG p.N373K RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 373 Linker. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 AGAGCCTCAATGCTGTGTACC 0.612000 10 20 0 0 0.008291 0 0 TMEM14E 645843 broad.mit.edu 37 3 152058520 152058520 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:152058520C>T ENST00000408960.3 - 1 259 c.174G>A c.(172-174)cgG>cgA p.R58R MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron NM_001123228.1 NP_001116700.1 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 58 integral to membrane lung(1) 1 CCTTTGGATTCCGTGATGGCT 0.458000 6 11 0 0 0.001168 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591849 70591849 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:70591849C>T ENST00000260126.3 - 8 2494 c.1788G>A c.(1786-1788)cgG>cgA p.R596R SLCO5A1_ENST00000524945.1_Silent_p.R596R|SLCO5A1_ENST00000530307.1_Silent_p.R541R NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 596 Kazal-like. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CTGTATAATTCCGTATCTAAG 0.413000 37 130 0 0 0.007835 0 0 DUSP22 56940 broad.mit.edu 37 6 292544 292544 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:292544G>A ENST00000419235.2 + 1 83 c.5G>A c.(4-6)gGg>gAg p.G2E DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.G2E Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 2 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCCACCATGGGGAATGGGATG 0.687000 5 33 0 0 0.001984 0 0 TENM3 55714 broad.mit.edu 37 4 183549824 183549824 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:183549824G>A ENST00000511685.1 + 5 893 c.770G>A c.(769-771)gGa>gAa p.G257E TENM3_ENST00000406950.2_Missense_Mutation_p.G257E teneurin transmembrane protein 3 TTCAAAACAGGAACAGGTACA 0.428000 5 8 0 0 0.014758 0 0 ZNF99 7652 broad.mit.edu 37 19 22939443 22939443 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:22939443G>A ENST00000397104.3 - 7 2727 c.2728C>T c.(2728-2730)Cat>Tat p.H910Y zinc finger protein 99 p.H910Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCCCCAGTATGAATTATCTTA 0.358000 18 27 0 0 0.007413 0 0 ZNF577 84765 broad.mit.edu 37 19 52376886 52376886 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:52376886G>A ENST00000301399.5 - 7 722 c.357C>T c.(355-357)ctC>ctT p.L119L ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000485702.1_Intron NM_032679.2 NP_116068.2 Q9BSK1 ZN577_HUMAN zinc finger protein 577 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCTTGATATGGAGGCATGATC 0.368000 17 35 0 0 0.006122 0 0 STAT2 6773 broad.mit.edu 37 12 56745206 56745206 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:56745206G>A ENST00000314128.4 - 9 834 c.811C>T c.(811-813)Cac>Tac p.H271Y STAT2_ENST00000418572.2_Missense_Mutation_p.H267Y|STAT2_ENST00000557235.1_Missense_Mutation_p.H267Y P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 271 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGCCTCAGGTGAAACAACAGC 0.522000 42 121 0 0 0.011902 0 0 SPHK2 56848 broad.mit.edu 37 19 49131485 49131485 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:49131485C>T ENST00000443164.1 + 4 1714 c.1009C>T c.(1009-1011)Ccc>Tcc p.P337S SPHK2_ENST00000599029.1_Missense_Mutation_p.P239S|SPHK2_ENST00000599748.1_Missense_Mutation_p.P239S|SPHK2_ENST00000601712.1_Missense_Mutation_p.P239S|SPHK2_ENST00000598088.1_Missense_Mutation_p.P275S|SPHK2_ENST00000600537.1_Missense_Mutation_p.P216S|SPHK2_ENST00000245222.4_Missense_Mutation_p.P275S|SPHK2_ENST00000340932.3_Missense_Mutation_p.P239S Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 275 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGGCATCCTCCCCTGCGGCTC 0.652000 13 26 0 0 0.003163 0 0 DSC1 1823 broad.mit.edu 37 18 28711631 28711631 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:28711631C>T ENST00000257197.3 - 15 2674 c.2413G>A c.(2413-2415)Gga>Aga p.G805R RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G805R|RP11-408H20.3_ENST00000582307.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 805 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TGCCCCACTCCCTTGACGGAC 0.507000 5 30 0 0 0.014758 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424330 69424330 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chrX:69424330G>A ENST00000333026.3 + 6 923 c.823G>A c.(823-825)Ggc>Agc p.G275S NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 275 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 CGGATCCTGGGGCTTCCTGCC 0.473000 12 5 0 0 0.016723 0 0 OR2F2 135948 broad.mit.edu 37 7 143632533 143632533 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:143632533G>A ENST00000408955.2 + 1 275 c.208G>A c.(208-210)Gat>Aat p.D70N NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CTCCCTTGTCGATGTCTCCTA 0.502000 104 180 0 0 0.014410 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49658807 49658807 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:49658807G>A ENST00000249601.4 - 9 1661 c.1365C>T c.(1363-1365)tcC>tcT p.S455S ARHGAP22_ENST00000417912.2_Silent_p.S471S|ARHGAP22_ENST00000374170.1_Silent_p.S296S|ARHGAP22_ENST00000477708.2_Silent_p.S288S|ARHGAP22_ENST00000374172.1_Silent_p.S346S|ARHGAP22_ENST00000417247.2_Silent_p.S365S|ARHGAP22_ENST00000435790.2_Silent_p.S461S NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 455 Ser-rich. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCCGCCGGAGGAGATGATGG 0.682000 3 4 0 0 0.004672 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093018 43093018 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:43093018C>T ENST00000244336.5 - 4 977 c.876G>A c.(874-876)aaG>aaA p.K292K LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 292 Ig-like C2-type 2. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) ATCCGCTGTTCTTTGTAGTGA 0.512000 31 65 0 0 0.007291 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566602 45566602 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:45566602C>T ENST00000588982.1 - 3 1378 c.877G>A c.(877-879)Gag>Aag p.E293K ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E293K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E293K|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E293K|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E293K A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 293 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TCCTCCTTCTCCTCCTCCTTG 0.617000 16 44 0 0 0.004007 0 0 FAM171A1 221061 broad.mit.edu 37 10 15296731 15296731 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:15296731C>T ENST00000378116.4 - 4 572 c.566G>A c.(565-567)gGa>gAa p.G189E NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 189 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TGTTCCATTTCCGTCTAATCC 0.463000 14 37 0 0 0.020292 0 0 RHBDD1 84236 broad.mit.edu 37 2 227860179 227860179 + Missense_Mutation SNP T T C TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:227860179T>C ENST00000392062.2 + 9 1413 c.889T>C c.(889-891)Ttt>Ctt p.F297L RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000341329.3_Missense_Mutation_p.F297L NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 297 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) ACCCTACGGGTTTCATCTCTC 0.458000 8 19 0 0 0.004482 0 0 KIF25 3834 broad.mit.edu 37 6 168440813 168440813 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:168440813C>T ENST00000443060.2 + 7 954 c.563C>T c.(562-564)cCc>cTc p.P188L KIF25_ENST00000351261.3_Missense_Mutation_p.P188L|KIF25_ENST00000354419.2_Missense_Mutation_p.P188L Q9UIL4 KIF25_HUMAN kinesin family member 25 188 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCGAAGCACCCCACCCTGGTG 0.572000 17 34 0 0 0.004007 0 0 COL15A1 1306 broad.mit.edu 37 9 101806876 101806876 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:101806876C>T ENST00000375001.3 + 25 3024 c.2601C>T c.(2599-2601)atC>atT p.I867I NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 867 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.I867I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CGGGTGCCATCCTGACAGAGG 0.502000 14 61 0 0 0.003163 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634876 70634876 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:70634876G>A ENST00000381269.2 - 2 1017 c.264C>T c.(262-264)ttC>ttT p.F88F SLC8A3_ENST00000528359.1_Silent_p.F88F|SLC8A3_ENST00000534137.1_Silent_p.F88F|SLC8A3_ENST00000357887.3_Silent_p.F88F|SLC8A3_ENST00000356921.2_Silent_p.F88F NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 88 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ACACCCCAAGGAACATGTATA 0.493000 6 20 0 0 0.001168 0 0 GRB7 2886 broad.mit.edu 37 17 37901727 37901727 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:37901727G>A ENST00000309156.4 + 11 1402 c.1145G>A c.(1144-1146)gGg>gAg p.G382E GRB7_ENST00000445327.2_Missense_Mutation_p.G405E|GRB7_ENST00000394209.2_Missense_Mutation_p.G382E|GRB7_ENST00000394204.1_Missense_Mutation_p.G382E|GRB7_ENST00000309185.3_Missense_Mutation_p.G382E|GRB7_ENST00000394211.3_Missense_Mutation_p.G382E NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 382 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGCCATGCTGGGCGTGTCATT 0.612000 16 59 0 0 0.004990 0 0 UBXN2A 165324 broad.mit.edu 37 2 24199943 24199943 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:24199943G>A ENST00000309033.4 + 4 529 c.285G>A c.(283-285)aaG>aaA p.K95K UBXN2A_ENST00000404924.1_Silent_p.K95K|UBXN2A_ENST00000535786.1_Silent_p.K95K|UBXN2A_ENST00000446425.2_3'UTR NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 95 SEP. endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 CCATCAAAAAGGGGTGAGTAg 0.473000 12 30 0 0 0.010729 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720207 140720207 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr5:140720207G>A ENST00000394576.2 + 1 1669 c.1669G>A c.(1669-1671)Gac>Aac p.D557N 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) GGACCAGAACGACAACGCGCC 0.617000 49 267 0 0 0.014410 0 0 IRF4 3662 broad.mit.edu 37 6 401488 401488 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:401488C>T ENST00000380956.4 + 7 936 c.810C>T c.(808-810)agC>agT p.S270S NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 270 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CCACGTCCAGCCCCGAGGGCT 0.602000 T IGH@ MM 10 59 0 0 0.008291 0 0 FLG 2312 broad.mit.edu 37 1 152275372 152275372 + Missense_Mutation SNP C C T rs149094882 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:152275372C>T ENST00000368799.1 - 3 12025 c.11990G>A c.(11989-11991)gGa>gAa p.G3997E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3997 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) ACTAACACTTCCGTGCTGAGA 0.403000 Ichthyosis 27 89 0 0 0.006320 0 0 ENAM 10117 broad.mit.edu 37 4 71507955 71507955 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:71507955G>A ENST00000396073.3 + 9 1093 c.812G>A c.(811-813)gGa>gAa p.G271E ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 271 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) AGCCCCACAGGAAACAGTACC 0.542000 15 25 0 0 0.020292 0 0 APOB 338 broad.mit.edu 37 2 21230763 21230763 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:21230763C>T ENST00000233242.1 - 26 9104 c.8977G>A c.(8977-8979)Gat>Aat p.D2993N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2993 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) TGCTGGGAATCGACTTGTGAT 0.418000 73 173 0 0 0.014410 0 0 ESPN 83715 broad.mit.edu 37 1 6505809 6505809 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:6505809G>A ENST00000377828.1 + 7 1446 c.1278G>A c.(1276-1278)ggG>ggA p.G426G RP1-202O8.2_ENST00000419034.1_RNA NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 426 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GCACGATTGGGAAGcccacac 0.687000 8 12 0 0 0.003080 0 0 EVX2 344191 broad.mit.edu 37 2 176948373 176948373 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr2:176948373C>T ENST00000308618.4 - 1 268 c.132G>A c.(130-132)caG>caA p.Q44Q NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 44 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GAGCCGGGTGCTGCGAATTTT 0.602000 14 60 0 0 0.016723 0 0 KCNMB3 27094 broad.mit.edu 37 3 178968596 178968596 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:178968596C>T ENST00000392685.2 - 1 822 c.183G>A c.(181-183)atG>atA p.M61I KCNMB3_ENST00000485523.1_Missense_Mutation_p.M43I|KCNMB3_ENST00000497599.1_Missense_Mutation_p.M63I|KCNMB3_ENST00000349697.2_Missense_Mutation_p.M63I|KCNMB3_ENST00000314235.5_Missense_Mutation_p.M65I NM_171830.1 NP_741981.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 65 detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) AGAAGCCCATCATGGCAAACC 0.488000 33 78 0 0 0.013726 0 0 CHSY1 22856 broad.mit.edu 37 15 101718145 101718145 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:101718145G>A ENST00000254190.3 - 3 2332 c.1857C>T c.(1855-1857)tcC>tcT p.S619S CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 619 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTTAAACTGGGAGGATCCTA 0.473000 11 37 0 0 0.008291 0 0 FMO3 2328 broad.mit.edu 37 1 171079999 171079999 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:171079999C>T ENST00000367755.4 + 6 799 c.688C>T c.(688-690)Cct>Tct p.P230S FMO3_ENST00000392085.2_Missense_Mutation_p.P230S|FMO3_ENST00000542847.1_Missense_Mutation_p.P210S|FMO3_ENST00000538429.1_Missense_Mutation_p.P167S NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 230 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAATGGTTATCCTTGGGACAT 0.463000 25 32 0 0 0.006320 0 0 TMEM190 147744 broad.mit.edu 37 19 55889382 55889382 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:55889382C>T ENST00000291934.3 + 5 363 c.345C>T c.(343-345)ttC>ttT p.F115F CTD-2105E13.15_ENST00000595064.1_RNA NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 115 integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TGCCCGGTTTCCTGGCGGGTC 0.706000 17 35 0 0 0.004990 0 0 PPP4R4 57718 broad.mit.edu 37 14 94674843 94674843 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:94674843C>T ENST00000304338.3 + 3 388 c.234C>T c.(232-234)ctC>ctT p.L78L PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Silent_p.L78L NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 78 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TTGCAAATCTCCCATTTTTGA 0.373000 6 14 0 0 0.001984 0 0 RARA 5914 broad.mit.edu 37 17 38498981 38498981 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:38498981G>A ENST00000394081.3 + 1 367 c.25G>A c.(25-27)Ggt>Agt p.G9S RARA_ENST00000254066.5_Intron|CTD-2267D19.2_ENST00000581080.1_RNA|RARA_ENST00000394086.3_Intron|RARA_ENST00000394089.2_Intron|RARA_ENST00000425707.3_Intron NM_001024809.3 NP_001019980.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 0 Modulating. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGAAGTGGGGGGTCCCACCCC 0.632000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 63 71 0 0 0.014410 0 0 USHBP1 83878 broad.mit.edu 37 19 17373418 17373418 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:17373418G>A ENST00000252597.3 - 4 758 c.585C>T c.(583-585)gtC>gtT p.V195V USHBP1_ENST00000431146.2_Silent_p.V131V|USHBP1_ENST00000598570.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 195 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 CCTGCGTGCGGACCAGCTCAT 0.657000 41 25 0 0 0.014410 0 0 TPTE 7179 broad.mit.edu 37 21 10942968 10942968 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr21:10942968G>A ENST00000298232.7 - 11 932 c.565C>T c.(565-567)Cat>Tat p.H189Y TPTE_ENST00000361285.4_Missense_Mutation_p.H207Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.H169Y NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 207 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) TGAAACAGATGAAAAATTCTT 0.308000 8 45 0 0 0.003080 0 0 CASP1 834 broad.mit.edu 37 11 104900535 104900535 + Missense_Mutation SNP C C T rs45617533 byFrequency TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:104900535C>T ENST00000533400.1 - 6 754 c.719G>A c.(718-720)cGg>cAg p.R240Q CASP1_ENST00000528974.1_Missense_Mutation_p.R201Q|CASP1_ENST00000393136.4_Missense_Mutation_p.R219Q|CASP1_ENST00000598974.1_Missense_Mutation_p.R240Q|CASP1_ENST00000525825.1_Missense_Mutation_p.R219Q|CASP1_ENST00000534497.1_Missense_Mutation_p.R147Q|CASP1_ENST00000593315.1_Missense_Mutation_p.R219Q|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000526568.1_Missense_Mutation_p.R147Q|CASP1_ENST00000594519.1_Missense_Mutation_p.R147Q|CASP1_ENST00000436863.3_Missense_Mutation_p.R240Q|CASP1_ENST00000446369.1_Missense_Mutation_p.R147Q|CASP1_ENST00000527979.1_Missense_Mutation_p.R203Q|CASP1_ENST00000531166.1_Intron NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 240 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AATGCCTTCCCGAATACCATG 0.468000 12 32 0 0 0.013537 0 0 USP20 10868 broad.mit.edu 37 9 132641892 132641892 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:132641892C>T ENST00000315480.4 + 24 2711 c.2553C>T c.(2551-2553)gtC>gtT p.V851V USP20_ENST00000372429.3_Silent_p.V851V|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Silent_p.V851V Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 851 DUSP 2. 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 cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TTGCACAGGTCAAAGGAAGCG 0.657000 24 55 0 0 0.005443 0 0 TOP3B 8940 broad.mit.edu 37 22 22318385 22318385 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:22318385C>T ENST00000398793.2 - 11 1548 c.1114G>A c.(1114-1116)Gca>Aca p.A372T TOP3B_ENST00000357179.5_Missense_Mutation_p.A372T|TOP3B_ENST00000413067.2_Missense_Mutation_p.A101T NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 372 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) ATACCTTCTGCTAACAACCGC 0.612000 18 27 0 0 0.004990 0 0 PTPRC 5788 broad.mit.edu 37 1 198685862 198685862 + Missense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:198685862A>T ENST00000367376.2 + 13 1508 c.1337A>T c.(1336-1338)aAt>aTt p.N446I PTPRC_ENST00000348564.6_Missense_Mutation_p.N287I|PTPRC_ENST00000594404.1_Missense_Mutation_p.N285I|PTPRC_ENST00000352140.3_Missense_Mutation_p.N398I|PTPRC_ENST00000442510.2_Missense_Mutation_p.N448I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 446 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GATTTGCAAAATTTAAAACCT 0.303000 37 38 0 0 0.021022 0 0 DCC 1630 broad.mit.edu 37 18 50912500 50912500 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr18:50912500C>T ENST00000442544.2 + 16 3063 c.2447C>T c.(2446-2448)tCt>tTt p.S816F DCC_ENST00000412726.1_Missense_Mutation_p.S664F|DCC_ENST00000581580.1_Missense_Mutation_p.S471F NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 816 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) ACCACCAGGTCTATAACCGGT 0.333000 10 30 0 0 0.008291 0 0 ATCAY 85300 broad.mit.edu 37 19 3905628 3905628 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr19:3905628G>A ENST00000450849.2 + 4 800 c.333G>A c.(331-333)ggG>ggA p.G111G ATCAY_ENST00000398448.3_Silent_p.G117G|ATCAY_ENST00000301260.6_Silent_p.G111G|ATCAY_ENST00000600960.1_Silent_p.G111G NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 111 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) AGTTCCTGGGGAATGGCAACG 0.582000 43 43 0 0 0.014410 0 0 TENM3 55714 broad.mit.edu 37 4 183651361 183651361 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr4:183651361C>T ENST00000511685.1 + 15 2717 c.2594C>T c.(2593-2595)tCt>tTt p.S865F TENM3_ENST00000406950.2_Missense_Mutation_p.S865F|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 AGCCTTGCATCTGTCATCAGA 0.378000 15 47 0 0 0.004990 0 0 PCDH15 65217 broad.mit.edu 37 10 55569283 55569283 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:55569283T>G ENST00000395438.1 - 36 4971 c.4577A>C c.(4576-4578)aAc>aCc p.N1526T PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.K705N|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137T|PCDH15_ENST00000395442.1_Missense_Mutation_p.K374N|PCDH15_ENST00000395440.1_Missense_Mutation_p.K443N|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1509N|PCDH15_ENST00000414778.1_Intron NM_001142770.1 NP_001136242.1 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) CAACCTTTGGTTTTTTAATTT 0.413000 HNSCC(58;0.16) 41 116 0 0 0.011902 0 0 RASGRP1 10125 broad.mit.edu 37 15 38803888 38803888 + Missense_Mutation SNP T T A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr15:38803888T>A ENST00000310803.5 - 8 1060 c.883A>T c.(883-885)Atg>Ttg p.M295L RASGRP1_ENST00000558164.1_Missense_Mutation_p.M295L|RASGRP1_ENST00000450598.2_Missense_Mutation_p.M295L|RASGRP1_ENST00000561180.1_Missense_Mutation_p.M346L|RASGRP1_ENST00000539159.1_Missense_Mutation_p.M247L|RASGRP1_ENST00000559830.1_Missense_Mutation_p.M295L NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 295 Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) ATCACAGCCATCAGTGTATTG 0.473000 8 24 0 0 0.003080 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45244881 45244881 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr22:45244881G>A ENST00000517296.3 + 15 1448 c.1448G>A c.(1447-1449)cGa>cAa p.R483Q ARHGAP8_ENST00000389774.2_Missense_Mutation_p.R304Q|ARHGAP8_ENST00000336963.4_Missense_Mutation_p.R273Q|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.R395Q|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.R483Q|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.R404Q|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.R273Q Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) ACCTTCCTGCGAGAGCTGCCC 0.612000 38 120 0 0 0.013114 0 0 MYH2 4620 broad.mit.edu 37 17 10448786 10448786 + Missense_Mutation SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:10448786G>A ENST00000245503.5 - 5 766 c.382C>T c.(382-384)Ccc>Tcc p.P128S MYH2_ENST00000397183.2_Missense_Mutation_p.P128S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.P128S NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 128 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 CACTTGTAGGGGTTGACAGTG 0.468000 12 49 0 0 0.010729 0 0 MTR 4548 broad.mit.edu 37 1 237052538 237052538 + Missense_Mutation SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:237052538T>G ENST00000366577.5 + 28 3303 c.2909T>G c.(2908-2910)gTg>gGg p.V970G MTR_ENST00000535889.1_Missense_Mutation_p.V919G NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 970 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CAGAAGCTGGTGGACTACATT 0.498000 6 97 0 0 0.003080 0 0 MYF5 4617 broad.mit.edu 37 12 81110842 81110842 + Translation_Start_Site SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:81110842G>A ENST00000228644.3 + 0 152 NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CTCTCAGCAGGATGGACGTGA 0.637000 18 38 0 0 0.010504 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103573827 103573827 + Nonsense_Mutation SNP A A T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:103573827A>T ENST00000380069.3 + 8 1724 c.1648A>T c.(1648-1650)Aag>Tag p.K550* NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 550 cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CCTCATGGACAAGGTGGTGAC 0.667000 9 38 0 0 0.008291 0 0 NEGR1 257194 broad.mit.edu 37 1 72058606 72058606 + Silent SNP T T G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:72058606T>G ENST00000357731.4 - 6 1073 c.834A>C c.(832-834)acA>acC p.T278T NEGR1_ENST00000306821.3_Silent_p.T150T|NEGR1_ENST00000434200.1_Silent_p.T232T NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 278 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GAATGGATCTTGTGCTAAAAT 0.413000 5 22 0 0 0.001168 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448676 142448676 + RNA SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:142448676C>T ENST00000422143.2 + 0 337 ACCTAACATTCTCAACTCTGA 0.498000 5 8 0 0 0.001168 0 0 SSU72 29101 broad.mit.edu 37 1 1500119 1500120 + Frame_Shift_Ins INS - - G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr1:1500119_1500120insG ENST00000359060.4 - 2 283_284 c.257_258insC c.(256-258)ctgfs p.L86fs SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-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;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAGGACCACACGGGGGGTTTTT 0.505 47 173 --- --- --- --- PLXNB1 5364 broad.mit.edu 37 3 48461137 48461137 + Frame_Shift_Del DEL T T - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:48461137delT ENST00000358536.4 - 11 2827 c.2558delA c.(2557-2559)gcfs p.D853fs PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Frame_Shift_Del_p.D853fs|PLXNB1_ENST00000358459.4_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 853 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGTCCACTCGTCCGCCTCGGG 0.682 11 17 --- --- --- --- CPN2 1370 broad.mit.edu 37 3 194062271 194062276 + In_Frame_Del DEL CAGGTT CAGGTT - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr3:194062271_194062276delCAGGTT ENST00000323830.3 - 2 1245_1250 c.1156_1161delAACCTG c.(1156-1161)del p.NL386del CPN2_ENST00000429275.1_In_Frame_Del_p.NL386del NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 386 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CCAGGTTGAACAGGTTGTAGTTGGTG 0.597 13 60 --- --- --- --- CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:42897358_42897360delTGC ENST00000372836.4 + 1 421_423 c.50_52delTGC c.(49-54)ttg>t p.LL23del CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 23 innate immune response endoplasmic reticulum p.L25delL(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.695 2 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 3 5 --- --- --- --- CDK5 1020 broad.mit.edu 37 7 150754217 150754217 + Frame_Shift_Del DEL T T - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr7:150754217delT ENST00000485972.1 - 2 749 c.68delA c.(67-69)acfs p.N23fs CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 23 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) AGTCTCCCGGTTTTTGGCCTT 0.582 7 355 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6679301 6679302 + RNA DEL CA CA - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr8:6679301_6679302delCA ENST00000518724.1 - 0 958 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) TGCATTGGTGcacacacacaca 0.401 3 4 --- --- --- --- ZBTB34 403341 broad.mit.edu 37 9 129642541 129642541 + Frame_Shift_Del DEL C C - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr9:129642541delC ENST00000319119.4 + 2 948 c.863delC c.(862-864)tcfs p.S288fs ZBTB34_ENST00000373452.2_Frame_Shift_Del_p.S284fs NM_001099270.1 NP_001092740.1 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 CACGCATACTCCTATTCCCAA 0.522 17 44 --- --- --- --- NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443226 81443226 + RNA DEL A A - rs3832674 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr10:81443226delA ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA CTGTGGCAGCACTGGGGCAGC 0.537 5 9 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 4 9 --- --- --- --- SNX32 254122 broad.mit.edu 37 11 65617683 65617684 + Frame_Shift_Ins INS - - A rs143066310 TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr11:65617683_65617684insA ENST00000308342.6 + 4 740_741 c.315_316insA c.(313-318)ggagggfs p.G106fs NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 106 PX. cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) AGAAATTGGGCGAGGGGGACAG 0.599 26 67 --- --- --- --- AMIGO2 347902 broad.mit.edu 37 12 47471738 47471753 + Frame_Shift_Del DEL TAACCAGACTTCCATT TAACCAGACTTCCATT - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr12:47471738_47471753delTAACCAGACTTCCATT ENST00000266581.4 - 2 1499_1514 c.1033_1048delAATGGAAGTCTGGTTA c.(1033-1050)tafs p.NGSLVI345fs AMIGO2_ENST00000550413.1_Frame_Shift_Del_p.NGSLVI345fs|AMIGO2_ENST00000429635.1_Frame_Shift_Del_p.NGSLVI345fs|AMIGO2_ENST00000321382.3_Frame_Shift_Del_p.NGSLVI345fs NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 345 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) GGGCTTTCTATAACCAGACTTCCATTGTGAAACACG 0.421 14 86 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20854287 20854287 + Frame_Shift_Del DEL A A - TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:20854287delA ENST00000262715.5 - 20 2969 c.2929delT c.(2929-2931)atfs p.Y977fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.Y869fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 977 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ATGTATCCATAACGGGAGCCC 0.552 38 114 --- --- --- --- IGHV3-23 28442 broad.mit.edu 37 14 106725714 106725715 + RNA INS - - G TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr14:106725714_106725715insG ENST00000390609.2 - 0 18_19 ATCCCAGGGCTGGGCTCCTCTC 0.500 9 83 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27002005 27002006 + Frame_Shift_Ins INS - - A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:27002005_27002006insA ENST00000314616.6 + 5 646_647 c.363_364insA c.(361-366)gtaaaafs p.VK121fs SUPT6H_ENST00000347486.4_Frame_Shift_Ins_p.VK121fs NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 121 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) ACCGGCGTGTCAAAAAAATGTC 0.485 43 55 --- --- --- --- RP11-848P1.9 0 broad.mit.edu 37 17 29349140 29349141 + RNA INS - - AT TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c8fb207-38ca-4eb4-b494-42fb039cd116 08bc1316-dd43-45f3-9aa2-4b4fd97e4d7f g.chr17:29349140_29349141insAT ENST00000579692.1 + 0 520_521 p.?(1) tgtgcatatacatatgtgtgtg 0.302 3 3 --- --- --- ---