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 HTR2A 3356 broad.mit.edu 37 13 47469888 47469888 + Nonsense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:47469888G>A ENST00000378688.4 - 1 285 c.154C>T c.(154-156)Cga>Tga p.R52* HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52*|HTR2A_ENST00000543956.1_Intron P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 52 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGGTTGGTTCGATTTTCAGAG 0.443000 40 51 0 0 6.26518e-05 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962063 10962063 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:10962063G>A ENST00000240691.2 - 1 704 c.612C>T c.(610-612)tcC>tcT p.S204S NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 204 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GTCTAACTAGGGAGAAAAGTA 0.458000 11 9 0 0 6.40141e-05 0 0 ABHD1 84696 broad.mit.edu 37 2 27351972 27351972 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:27351972C>T ENST00000316470.4 + 3 549 c.435C>T c.(433-435)aaC>aaT p.N145N NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 145 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTAGTTAACCAAGCTCTGA 0.537000 23 5 0 0 7.16444e-05 0 0 AMER3 205147 broad.mit.edu 37 2 131520378 131520378 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:131520378G>A ENST00000423981.1 + 2 843 c.733G>A c.(733-735)Gac>Aac p.D245N AMER3_ENST00000321420.4_Missense_Mutation_p.D245N NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 CCAGAGCTTCGACTCGCTCAC 0.647000 31 53 0 0 3.51345e-05 0 0 IL36RN 26525 broad.mit.edu 37 2 113818515 113818515 + Splice_Site SNP G G T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:113818515G>T ENST00000393200.2 + 3 276 c.e3+1 IL36RN_ENST00000346807.3_Splice_Site NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GTCATTAAAGGTTGGTGATGA 0.473000 9 24 6.40141e-05 0.00540809 6.40141e-05 1 0 KIAA0319 9856 broad.mit.edu 37 6 24578408 24578408 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:24578408C>T ENST00000535378.1 - 10 2050 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K KIAA0319_ENST00000378214.3_Missense_Mutation_p.E479K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E479K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E479K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E434K NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 479 PKD 2. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GTCTTCTCTTCTATGAAGGGC 0.393000 24 36 0 0 4.16121e-05 0 0 FBXO15 201456 broad.mit.edu 37 18 71749192 71749192 + Nonsense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr18:71749192C>T ENST00000269500.5 - 9 1340 c.1005G>A c.(1003-1005)tgG>tgA p.W335* FBXO15_ENST00000419743.2_Nonsense_Mutation_p.W411*|FBXO15_ENST00000580806.1_5'UTR NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 335 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TATCAGTTTTCCACGAGAGGC 0.294000 17 16 0 0 7.07596e-05 0 0 APBA2 321 broad.mit.edu 37 15 29346627 29346627 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr15:29346627G>A ENST00000558402.1 + 5 1139 c.540G>A c.(538-540)caG>caA p.Q180Q APBA2_ENST00000558259.1_Silent_p.Q180Q|APBA2_ENST00000558330.1_Silent_p.Q180Q|APBA2_ENST00000561069.1_Silent_p.Q180Q|APBA2_ENST00000411764.1_Silent_p.Q180Q Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 180 DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CCCATGACCAGGAAGAAGATG 0.652000 12 17 0 0 0.00010058 0 0 CEACAM5 1048 broad.mit.edu 37 19 42222066 42222066 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:42222066C>T ENST00000221992.6 + 6 1371 c.1257C>T c.(1255-1257)acC>acT p.T419T CEACAM5_ENST00000405816.1_Silent_p.T419T|CEACAM5_ENST00000398599.4_Silent_p.T418T|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 419 Ig-like 5. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) ACGACCCCACCATTTCCCCCT 0.542000 17 35 0 0 2.27731e-05 0 0 OR8I2 120586 broad.mit.edu 37 11 55861122 55861122 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:55861122C>T ENST00000302124.2 + 1 370 c.339C>T c.(337-339)ttC>ttT p.F113F OR8I2_ENST00000560768.1_Silent_p.F113F Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTGAGTGTTTCCTTCTGGGAT 0.428000 16 26 0 0 2.31682e-05 0 0 IL5RA 3568 broad.mit.edu 37 3 3144437 3144437 + Nonsense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:3144437C>T ENST00000446632.2 - 4 724 c.150G>A c.(148-150)tgG>tgA p.W50* IL5RA_ENST00000445864.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000438560.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000256452.3_Nonsense_Mutation_p.W50*|IL5RA_ENST00000311981.8_Nonsense_Mutation_p.W50*|IL5RA_ENST00000456302.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000418488.2_Nonsense_Mutation_p.W50*|IL5RA_ENST00000383846.1_Nonsense_Mutation_p.W50*|IL5RA_ENST00000430514.2_Nonsense_Mutation_p.W50* NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 50 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) GATTTGGTTTCCATTGTAAAA 0.333000 14 32 0 0 0.000151284 0 0 VCAN 1462 broad.mit.edu 37 5 82817330 82817330 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:82817330G>A ENST00000265077.3 + 7 3770 c.3205G>A c.(3205-3207)Gat>Aat p.D1069N VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N|VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1069 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAAGAGGGCGATGGATCAGC 0.463000 20 22 0 0 4.16121e-05 0 0 CDKAL1 54901 broad.mit.edu 37 6 21198255 21198255 + Missense_Mutation SNP G G T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:21198255G>T ENST00000274695.4 + 14 1470 c.1303G>T c.(1303-1305)Ggt>Tgt p.G435C CDKAL1_ENST00000378624.4_Missense_Mutation_p.G344C|CDKAL1_ENST00000378610.1_Missense_Mutation_p.G435C NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 435 TRAM. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCCACAGATTGGTGAAAGACA 0.393000 11 455 1.49906e-05 0.00128866 1.49906e-05 1 0 NTRK1 4914 broad.mit.edu 37 1 156849015 156849015 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:156849015C>T ENST00000368196.3 + 14 2009 c.1889C>T c.(1888-1890)gCg>gTg p.A630V NTRK1_ENST00000392302.2_Missense_Mutation_p.A600V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A633V|NTRK1_ENST00000524377.1_Missense_Mutation_p.A636V NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 636 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) CAGGTCGCTGCGGGGATGGTG 0.637000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 19 0 0 0.00010058 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414883 121414883 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:121414883G>A ENST00000393667.3 - 13 4597 c.4487C>T c.(4486-4488)tCc>tTc p.S1496F GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1491F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1491 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTCTTTTCGGGAAATAAGGGC 0.418000 80 120 0 0 0.000147903 0 0 DOT1L 84444 broad.mit.edu 37 19 2226433 2226433 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:2226433G>A ENST00000398665.3 + 27 3949 c.3913G>A c.(3913-3915)Gga>Aga p.G1305R NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1305 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGGCTGACGGACTCAGCCC 0.677000 18 15 0 0 0.000132079 0 0 SERPINF2 5345 broad.mit.edu 37 17 1657592 1657592 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:1657592C>T ENST00000324015.3 + 10 1317 c.1240C>T c.(1240-1242)Ccc>Tcc p.P414S SERPINF2_ENST00000382061.4_Missense_Mutation_p.P414S|SERPINF2_ENST00000450523.2_Missense_Mutation_p.P350S NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 414 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CGTGAACCGCCCCTTCCTCTT 0.647000 45 53 0 0 0.000147903 0 0 AK8 158067 broad.mit.edu 37 9 135698650 135698650 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr9:135698650C>T ENST00000298545.3 - 9 1352 c.831G>A c.(829-831)gtG>gtA p.V277V AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 277 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.V277V(2) NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 TCCCACTGCCCACAGGCCCGA 0.577000 57 82 0 0 0.000147903 0 0 SPACA7 122258 broad.mit.edu 37 13 113053480 113053480 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:113053480C>T ENST00000375699.3 + 3 421 c.249C>T c.(247-249)tcC>tcT p.S83S SPACA7_ENST00000283550.3_Silent_p.S114S Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 114 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 TCAAAATTTCCAATGATGGTA 0.438000 11 14 0 0 0.00010058 0 0 PLXNB3 5365 broad.mit.edu 37 X 153040478 153040478 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:153040478G>A ENST00000538966.1 + 25 4415 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K PLXNB3_ENST00000538282.1_3'UTR|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E1359K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.E1012K NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1359 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGCCAGGGGAGGACGGCCA 0.687000 14 16 0 0 2.31682e-05 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 5 8 0 0 8.12818e-05 0 0 RS1 6247 broad.mit.edu 37 X 18660162 18660162 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:18660162G>A ENST00000379984.3 - 6 677 c.637C>T c.(637-639)Cgg>Tgg p.R213W CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 213 F5/8 type C. R -> Q (in XLRS1).|R -> W (in XLRS1). cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) AGCTCCATCCGGATGGCAATG 0.682000 31 46 0 0 4.66903e-05 0 0 OBSCN 84033 broad.mit.edu 37 1 228486167 228486167 + Missense_Mutation SNP G G A rs150190896 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:228486167G>A ENST00000570156.2 + 49 13033 c.12959G>A c.(12958-12960)cGa>cAa p.R4320Q OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_Splice_Site_p.R2738_splice|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1010Q|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3363 Ig-like 44. 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 p.R4174L(1)|p.R3945L(1) 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) CTGCCTGCACGATTCACTCAA 0.542000 44 80 0 0 0.000147903 0 0 EPHB6 2051 broad.mit.edu 37 7 142562309 142562309 + Missense_Mutation SNP G G T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142562309G>T ENST00000392957.2 + 7 1538 c.751G>T c.(751-753)Ggg>Tgg p.G251W EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G251W NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 251 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682000 33 58 7.61165e-28 6.78129e-26 0.000109025 1 0 TENM1 10178 broad.mit.edu 37 X 123587303 123587303 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:123587303C>T ENST00000422452.2 - 23 4051 c.3988G>A c.(3988-3990)Gat>Aat p.D1330N TENM1_ENST00000371130.3_Missense_Mutation_p.D1323N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ATAGTCCCATCCACAAAGTAA 0.428000 25 49 0 0 7.16444e-05 0 0 MOCOS 55034 broad.mit.edu 37 18 33800069 33800069 + Missense_Mutation SNP A A G TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr18:33800069A>G ENST00000261326.5 + 9 1870 c.1849A>G c.(1849-1851)Atg>Gtg p.M617V NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 617 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) CCGGAGCTGGATGGTTGTGAA 0.537000 36 60 0 0 4.2857e-05 0 0 ABCB1 5243 broad.mit.edu 37 7 87179329 87179329 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:87179329C>T ENST00000265724.3 - 14 1809 c.1392G>A c.(1390-1392)agG>agA p.R464R ABCB1_ENST00000543898.1_Silent_p.R400R NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 464 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCCGTAGAAACCTTACATTTA 0.408000 34 53 0 0 8.91981e-05 0 0 FRG1 2483 broad.mit.edu 37 4 190876287 190876287 + Nonsense_Mutation SNP G G A rs113079586 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr4:190876287G>A ENST00000226798.4 + 5 635 c.413G>A c.(412-414)tGg>tAg p.W138* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 138 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGAGAACAATGGGAACCAGTC 0.348000 5 93 0 0 2.17888e-05 0 0 ZHX2 22882 broad.mit.edu 37 8 123965169 123965169 + Silent SNP C C T rs148698137 byFrequency TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:123965169C>T ENST00000314393.4 + 3 2254 c.1419C>T c.(1417-1419)atC>atT p.I473I NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 473 Required for interaction with NFYA. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ACCGGCTCATCGAGGTGACTG 0.557000 9 12 0 0 1.12685e-05 0 0 COL1A1 1277 broad.mit.edu 37 17 48268796 48268796 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:48268796C>T ENST00000225964.5 - 32 2301 c.2183G>A c.(2182-2184)gGa>gAa p.G728E NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 728 Triple-helical region. G -> R (in OI2A). 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) ACCAGGCATTCCCTGAAGGCC 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 30 38 0 0 7.24521e-05 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64619553 64619553 + Missense_Mutation SNP G G T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:64619553G>T ENST00000498707.1 - 13 2201 c.1859C>A c.(1858-1860)cCa>cAa p.P620Q ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P592Q NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 620 TSP type-1 1. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACCATTTTTTGGTCTGAAAAA 0.403000 71 104 6.66389e-18 5.7793e-16 0.000147903 1 0 TUBA3D 113457 broad.mit.edu 37 2 132240164 132240164 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:132240164G>A ENST00000321253.6 + 5 1203 c.1096G>A c.(1096-1098)Gga>Aga p.G366R NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 366 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) GGTCCCCGGGGGAGACCTGGC 0.577000 21 38 0 0 0.000147802 0 0 ANK3 288 broad.mit.edu 37 10 62029942 62029942 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:62029942C>T ENST00000280772.1 - 5 651 c.460G>A c.(460-462)Gaa>Aaa p.E154K ANK3_ENST00000503366.1_Missense_Mutation_p.E137K|ANK3_ENST00000373827.2_Missense_Mutation_p.E148K NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 154 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 TTGACAACTTCCAGGTGATTT 0.408000 34 9 0 0 2.86225e-05 0 0 TTN 7273 broad.mit.edu 37 2 179435636 179435636 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:179435636G>A ENST00000589042.1 - 326 75447 c.75223C>T c.(75223-75225)Cac>Tac p.H25075Y TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H23434Y|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H16135Y|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H22507Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H16010Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H16202Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23434 Fibronectin type-III 82. 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) TCATATCTGTGATCTTCAACT 0.423000 44 66 0 0 8.96297e-05 0 0 ACTL8 81569 broad.mit.edu 37 1 18149591 18149591 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:18149591C>T ENST00000375406.1 + 2 304 c.88C>T c.(88-90)Ccg>Tcg p.P30S NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 30 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GATGGTCTTCCCGAACATCGT 0.582000 26 6 0 0 5.49717e-05 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401460 77401460 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr16:77401460C>T ENST00000282849.5 - 4 1074 c.656G>A c.(655-657)gGc>gAc p.G219D ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 219 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G219V(1)|p.G216_G219del(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CCGGCCAGAGCCGGGGTAGCC 0.547000 10 31 0 0 6.40141e-05 0 0 UNC13D 201294 broad.mit.edu 37 17 73824968 73824968 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:73824968C>T ENST00000207549.4 - 31 3430 c.3051G>A c.(3049-3051)gaG>gaA p.E1017E UNC13D_ENST00000412096.2_Silent_p.E1017E NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 1017 C2 2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GCAGGAAGGCCTCGCCTTCCA 0.706000 Familial Hemophagocytic Lymphohistiocytosis 7 8 0 0 5.18039e-06 0 0 EFNB3 1949 broad.mit.edu 37 17 7612773 7612773 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:7612773G>A ENST00000226091.2 + 5 1299 c.902G>A c.(901-903)gGg>gAg p.G301E NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 301 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) CGGGGTGGCGGGGCTGCAGAT 0.662000 21 20 0 0 4.16121e-05 0 0 RNF217 154214 broad.mit.edu 37 6 125397968 125397968 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:125397968C>T ENST00000521654.2 + 4 1447 c.1447C>T c.(1447-1449)Cct>Tct p.P483S RNF217_ENST00000275184.6_Missense_Mutation_p.P127S|RNF217_ENST00000560949.1_Missense_Mutation_p.P248S|RNF217_ENST00000359704.2_Missense_Mutation_p.P191S|RNF217_ENST00000368414.2_Missense_Mutation_p.P45S Q8TC41 RN217_HUMAN ring finger protein 217 191 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) CCCAGAGAGACCTCATTTAAG 0.448000 23 33 0 0 9.22233e-05 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130460844 130460844 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:130460844C>T ENST00000529410.1 + 25 2768 c.2289C>T c.(2287-2289)ttC>ttT p.F763F L3MBTL3_ENST00000361794.2_Silent_p.F763F|L3MBTL3_ENST00000526019.1_Silent_p.F738F|L3MBTL3_ENST00000368136.2_Silent_p.F763F|L3MBTL3_ENST00000368139.2_Silent_p.F738F|L3MBTL3_ENST00000533560.1_Silent_p.F738F|RP11-73O6.3_ENST00000415964.1_RNA Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 763 SAM. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCAAAATTTTCAATTCCATCC 0.363000 22 31 0 0 2.27731e-05 0 0 PCLO 27445 broad.mit.edu 37 7 82584475 82584475 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:82584475G>A ENST00000423517.2 - 5 6131 c.5794C>T c.(5794-5796)Cca>Tca p.P1932S PCLO_ENST00000333891.8_Missense_Mutation_p.P1932S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1863 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 TTTGCAGCTGGAAAAGCTTTG 0.358000 36 38 0 0 7.24521e-05 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481317 142481317 + RNA SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142481317G>A ENST00000603901.1 + 0 391 NR_001296.3 TCTGCCCACTGCCCCTCCAGC 0.547000 7 31 0 0 2.17888e-05 0 0 OR4C3 256144 broad.mit.edu 37 11 48346646 48346646 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:48346646C>T ENST00000319856.4 + 1 175 c.154C>T c.(154-156)Ctc>Ttc p.L52F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ACAGAGAGTTCTCTTTGTGGT 0.473000 32 52 0 0 2.90539e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 53 2 0 0 0.000147903 0 0 DNAH3 55567 broad.mit.edu 37 16 20952783 20952783 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr16:20952783G>A ENST00000261383.3 - 59 11593 c.11594C>T c.(11593-11595)cCc>cTc p.P3865L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3865 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATAGACCACGGGGTACAACTT 0.483000 96 103 0 0 0.000147903 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22884663 22884663 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:22884663C>T ENST00000276431.4 - 7 1203 c.919G>A c.(919-921)Gag>Aag p.E307K TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.E127K|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.E278K NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 307 activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TGCTCTGACTCCCCGGGGGAC 0.562000 15 23 0 0 2.31682e-05 0 0 CPAMD8 27151 broad.mit.edu 37 19 17100547 17100547 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:17100547C>T ENST00000443236.1 - 13 1473 c.1442G>A c.(1441-1443)gGg>gAg p.G481E CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 434 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GTACTGAGCCCCCACAGGCTT 0.602000 9 16 0 0 2.17888e-05 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481316 142481316 + RNA SNP T T C rs140068138 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142481316T>C ENST00000603901.1 + 0 390 NR_001296.3 CTCTGCCCACTGCCCCTCCAG 0.547000 7 32 0 0 2.17888e-05 0 0 FRG1 2483 broad.mit.edu 37 4 190876268 190876268 + Missense_Mutation SNP A A G rs145193566 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr4:190876268A>G ENST00000226798.4 + 5 616 c.394A>G c.(394-396)Att>Gtt p.I132V FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 132 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTCAGATGCAATTGGACCAAG 0.358000 5 92 0 0 1.12685e-05 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64766968 64766968 + Splice_Site SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:64766968C>T ENST00000536360.1 - 3 912 c.97_splice c.e3-1 p.E33_splice Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 33 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCAGGAATTCCTCTTTGTAAT 0.338000 25 24 0 0 9.22233e-05 0 0 DDX54 79039 broad.mit.edu 37 12 113612529 113612529 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:113612529G>A ENST00000314045.7 - 10 1011 c.984C>T c.(982-984)ctC>ctT p.L328L DDX54_ENST00000306014.5_Silent_p.L328L NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 328 Helicase C-terminal. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCAGCAGGTGGAGCAGCACGG 0.652000 OREG0022139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 4 0 0 2.27731e-05 0 0 SCN5A 6331 broad.mit.edu 37 3 38639416 38639416 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:38639416C>T ENST00000413689.1 - 14 2259 c.2066G>A c.(2065-2067)cGt>cAt p.R689H SCN5A_ENST00000414099.2_Missense_Mutation_p.R689H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R689H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 689 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTGGGCGAGACGGTTCCAGCA 0.537000 42 47 0 0 0.000147903 0 0 HTR1A 3350 broad.mit.edu 37 5 63256815 63256815 + Silent SNP T T A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:63256815T>A ENST00000323865.3 - 1 965 c.732A>T c.(730-732)gcA>gcT p.A244A RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 244 A -> AA (in Ref. 8). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGGCGGGAGATGCTCCATGGC 0.632000 19 34 0 0 7.16444e-05 0 0 FAIM 55179 broad.mit.edu 37 3 138351790 138351790 + Missense_Mutation SNP G G T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:138351790G>T ENST00000338446.4 + 6 1194 c.511G>T c.(511-513)Ggg>Tgg p.G171W FAIM_ENST00000464668.1_Missense_Mutation_p.G137W|FAIM_ENST00000393034.2_Missense_Mutation_p.G137W|FAIM_ENST00000360570.3_Missense_Mutation_p.G159W|FAIM_ENST00000393035.2_Missense_Mutation_p.G137W NM_001033030.1 NP_001028202.1 Q9NVQ4 FAIM1_HUMAN Fas apoptotic inhibitory molecule 137 apoptosis cytoplasm kidney(1)|upper_aerodigestive_tract(1) 2 TGTAGATGATGGGACTGAAAC 0.413000 8 335 3.86212e-05 0.0032912 3.86212e-05 1 0 NDFIP1 80762 broad.mit.edu 37 5 141515366 141515366 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:141515366C>T ENST00000253814.4 + 4 824 c.354C>T c.(352-354)ttC>ttT p.F118F NM_030571.3 NP_085048.1 Q9BT67 NFIP1_HUMAN Nedd4 family interacting protein 1 118 cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm signal transducer activity large_intestine(3)|lung(1)|ovary(1) 5 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGGATTTTCATGTTAACTT 0.353000 45 62 0 0 0.000147903 0 0 XDH 7498 broad.mit.edu 37 2 31588332 31588332 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:31588332G>A ENST00000379416.3 - 23 2583 c.2535C>T c.(2533-2535)gcC>gcT p.A845A NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 845 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CCTTGTATCTGGCCAGGAAGG 0.577000 53 10 0 0 0.000147903 0 0 C11orf84 144097 broad.mit.edu 37 11 63586326 63586326 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:63586326C>T ENST00000294244.4 + 5 1085 c.786C>T c.(784-786)gtC>gtT p.V262V NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 262 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 CAGCCGAGGTCCGACACTTCA 0.622000 23 45 0 0 0.000117367 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573706 140573706 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:140573706C>T ENST00000239446.4 + 1 1765 c.1581C>T c.(1579-1581)ttC>ttT p.F527F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 527 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCAGGCTTTCGAGTTCCGCG 0.692000 34 77 0 0 8.91981e-05 0 0 GPR179 440435 broad.mit.edu 37 17 36499248 36499248 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:36499248G>A ENST00000342292.4 - 1 445 c.425C>T c.(424-426)cCa>cTa p.P142L NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 142 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GTACACTCTTGGGTCCCCCTC 0.622000 16 24 0 0 3.45872e-05 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 5 9 0 0 1.23904e-05 0 0 MYOM1 8736 broad.mit.edu 37 18 3188758 3188758 + Silent SNP G G C TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr18:3188758G>C ENST00000400569.3 - 4 1092 c.759C>G c.(757-759)tcC>tcG p.S253S MYOM1_ENST00000261606.7_Silent_p.S253S|MYOM1_ENST00000356443.4_Silent_p.S253S P52179 MYOM1_HUMAN myomesin 1 253 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTTCCTCAGGGACAGGCGTT 0.423000 11 10 0 0 3.86212e-05 0 0 SPRR4 163778 broad.mit.edu 37 1 152944374 152944374 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:152944374C>T ENST00000328051.2 + 2 57 c.8C>T c.(7-9)tCc>tTc p.S3F NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline-rich protein 4 3 keratinization|peptide cross-linking cell cortex lung(1)|prostate(1) 2 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAATGTCTTCCcagcagcag 0.532000 40 39 0 0 2.31628e-05 0 0 SNTG2 54221 broad.mit.edu 37 2 1241704 1241704 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:1241704G>A ENST00000308624.5 + 10 893 c.764G>A c.(763-765)gGg>gAg p.G255E SNTG2_ENST00000407292.1_Missense_Mutation_p.G128E NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 255 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) GTCAGCTCTGGGATCCTCCGG 0.652000 9 2 0 0 3.86212e-05 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917534 65917534 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr15:65917534C>T ENST00000261892.6 + 2 1403 c.1116C>T c.(1114-1116)tcC>tcT p.S372S SLC24A1_ENST00000546330.1_Silent_p.S372S|SLC24A1_ENST00000544319.2_Silent_p.S372S|SLC24A1_ENST00000537259.1_Silent_p.S372S|SLC24A1_ENST00000399033.4_Silent_p.S372S|SLC24A1_ENST00000339868.6_Silent_p.S372S NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 372 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 AGAAACCTTCCACAGCACCCA 0.557000 14 26 0 0 1.49906e-05 0 0 MFSD2A 84879 broad.mit.edu 37 1 40431577 40431577 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:40431577G>A ENST00000372809.5 + 6 787 c.644G>A c.(643-645)gGa>gAa p.G215E MFSD2A_ENST00000420632.2_Missense_Mutation_p.G46E|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.G202E NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 215 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GCGATCCAGGGACAAATCGTG 0.562000 23 10 0 0 0.000117367 0 0 TBX4 9496 broad.mit.edu 37 17 59557471 59557471 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:59557471C>T ENST00000393853.4 + 8 975 c.812C>T c.(811-813)tCc>tTc p.S271F TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.S271F P57082 TBX4_HUMAN T-box 4 271 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CCCGTGATTTCCAAAAGCATC 0.597000 40 46 0 0 4.2857e-05 0 0 FLG 2312 broad.mit.edu 37 1 152283563 152283563 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:152283563C>T ENST00000368799.1 - 3 3834 c.3799G>A c.(3799-3801)Gga>Aga p.G1267R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1267 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACACTGGATCCCTGGTGCCTG 0.557000 Ichthyosis 68 89 0 0 0.000147903 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885348 88885348 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:88885348G>A ENST00000319675.3 - 1 948 c.852C>T c.(850-852)ttC>ttT p.F284F NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 284 p.F284F(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ATGACACCAGGAATTGGCCAT 0.498000 27 28 0 0 0.000147802 0 0 CD163 9332 broad.mit.edu 37 12 7640410 7640410 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:7640410C>T ENST00000359156.4 - 7 1896 c.1694G>A c.(1693-1695)gGa>gAa p.G565E CD163_ENST00000541972.1_Missense_Mutation_p.G553E|CD163_ENST00000396620.3_Missense_Mutation_p.G565E|CD163_ENST00000432237.2_Missense_Mutation_p.G565E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 565 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 GCTACAAGTTCCTTCTGGGCG 0.498000 30 45 0 0 2.25844e-05 0 0 MARCO 8685 broad.mit.edu 37 2 119750795 119750795 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:119750795G>A ENST00000541757.1 + 17 1494 c.1114G>A c.(1114-1116)Gag>Aag p.E372K MARCO_ENST00000327097.4_Missense_Mutation_p.E450K Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 450 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 TTGCGATGACGAGTGGCAAAA 0.532000 34 68 0 0 0.000132358 0 0 AGXT2 64902 broad.mit.edu 37 5 35035412 35035412 + Silent SNP A A G TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:35035412A>G ENST00000231420.6 - 5 696 c.496T>C c.(496-498)Ttg>Ctg p.L166L NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 166 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CTGTTCACCAAGAAAATGACC 0.468000 71 115 0 0 0.000147903 0 0 EZH1 2145 broad.mit.edu 37 17 40861891 40861891 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:40861891G>A ENST00000428826.2 - 13 1587 c.1466C>T c.(1465-1467)cCc>cTc p.P489L EZH1_ENST00000592743.1_Missense_Mutation_p.P489L|EZH1_ENST00000590078.1_Missense_Mutation_p.P419L|EZH1_ENST00000435174.1_Missense_Mutation_p.P350L|EZH1_ENST00000585893.1_Missense_Mutation_p.P449L|EZH1_ENST00000415827.2_Missense_Mutation_p.P480L Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 489 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CTTCTGTGAGGGGTTCATGAG 0.483000 47 40 0 0 0.000147903 0 0 XYLB 9942 broad.mit.edu 37 3 38417659 38417659 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:38417659C>T ENST00000207870.3 + 13 1146 c.1056C>T c.(1054-1056)tcC>tcT p.S352S XYLB_ENST00000542835.1_Silent_p.S215S NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 352 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) AGTCTGTATCCCGTTCCTGGA 0.557000 46 79 0 0 0.000147903 0 0 NUP205 23165 broad.mit.edu 37 7 135303182 135303182 + Missense_Mutation SNP A A G TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:135303182A>G ENST00000285968.6 + 28 3820 c.3794A>G c.(3793-3795)tAt>tGt p.Y1265C NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1265 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GTACTTCAGTATGTGGTAGGA 0.393000 54 15 0 0 0.000147903 0 0 TSEN2 80746 broad.mit.edu 37 3 12558112 12558112 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:12558112C>T ENST00000444864.1 + 6 1221 c.834C>T c.(832-834)gcC>gcT p.A278A TSEN2_ENST00000284995.6_Silent_p.A304A|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000415684.1_Silent_p.A278A|TSEN2_ENST00000383797.5_Intron|TSEN2_ENST00000454502.2_Silent_p.A245A|TSEN2_ENST00000402228.3_Silent_p.A304A|TSEN2_ENST00000314571.7_Silent_p.A278A NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 304 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 ATTTTCAGGCCTTTTTCTTGG 0.333000 218 398 0 0 0.000147903 0 0 RBM5 10181 broad.mit.edu 37 3 50131285 50131285 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:50131285C>T ENST00000347869.3 + 4 491 c.316C>T c.(316-318)Ccc>Tcc p.P106S RBM5_ENST00000469838.1_Missense_Mutation_p.P106S NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 106 RRM 1. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCGCGGCCTTCCCATCACCAT 0.483000 45 66 0 0 0.000147903 0 0 PTEN 5728 broad.mit.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121913292 TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:89692904C>T ENST00000371953.3 + 5 1745 c.388C>T c.(388-390)Cga>Tga p.R130* NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGGAAAGGGACGAACTGGTGT 0.403000 R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 38 13 0 0 5.1965e-05 0 0 FLG 2312 broad.mit.edu 37 1 152277111 152277111 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:152277111C>T ENST00000368799.1 - 3 10286 c.10251G>A c.(10249-10251)caG>caA p.Q3417Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3417 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTCGTGCCTGCTCGTGGT 0.602000 Ichthyosis 74 99 0 0 0.000147903 0 0 COX10 1352 broad.mit.edu 37 17 14110342 14110342 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:14110342C>T ENST00000261643.3 + 7 1221 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S COX10_ENST00000537334.1_Missense_Mutation_p.P165S|COX10_ENST00000536205.1_Missense_Mutation_p.P190S NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 382 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) ATGGACCTTCCCCATCATGGC 0.657000 39 37 0 0 2.86225e-05 0 0 C12orf54 121273 broad.mit.edu 37 12 48888647 48888647 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:48888647G>A ENST00000314014.2 + 8 440 c.309G>A c.(307-309)gaG>gaA p.E103E RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Silent_p.E103E NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 103 endometrium(1)|large_intestine(4) 5 GCTCTGGAGAGCAGCCATCAG 0.473000 98 58 0 0 0.000147903 0 0 AACS 65985 broad.mit.edu 37 12 125626733 125626733 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:125626733C>T ENST00000261686.6 + 17 1918 c.1774C>T c.(1774-1776)Cct>Tct p.P592S AACS_ENST00000316543.10_Silent_p.T257T|AACS_ENST00000543665.1_Silent_p.T91T|AACS_ENST00000545511.1_Silent_p.T171T|AACS_ENST00000316519.6_Silent_p.T659T Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 0 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ACCCCGAGACCCTGGATCTGT 0.567000 19 11 0 0 0.000132079 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139755 142139755 + RNA SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142139755G>A ENST00000390374.3 - 0 60 ACCCAGCATAGGAGACTGGTG 0.537000 41 8 0 0 0.000147903 0 0 SLC6A11 6538 broad.mit.edu 37 3 10970933 10970933 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:10970933C>T ENST00000254488.2 + 10 1345 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 427 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGACATGTACCCCAAGGTTTT 0.547000 57 83 0 0 0.000147903 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481251 142481251 + RNA SNP A A C rs140137372 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr7:142481251A>C ENST00000603901.1 + 0 325 NR_001296.3 CAATGACATCATGCTGATCAA 0.522000 4 55 0 0 1.12685e-05 0 0 TEX26 122046 broad.mit.edu 37 13 31549009 31549009 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:31549009C>T ENST00000380473.3 + 7 848 c.835C>T c.(835-837)Cgt>Tgt p.R279C TEX26_ENST00000530916.1_3'UTR|RP11-252M21.6_ENST00000433788.1_RNA NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 279 TCGCTTTATTCGTACTCACTG 0.303000 7 15 0 0 1.12685e-05 0 0 ACSL5 51703 broad.mit.edu 37 10 114186028 114186028 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:114186028G>A ENST00000393081.1 + 19 2057 c.1750G>A c.(1750-1752)Gga>Aga p.G584R ACSL5_ENST00000433418.1_Missense_Mutation_p.G584R|ACSL5_ENST00000354273.4_Missense_Mutation_p.G584R|ACSL5_ENST00000356116.1_Missense_Mutation_p.G640R|ACSL5_ENST00000369410.3_Missense_Mutation_p.G366R|ACSL5_ENST00000354655.4_Missense_Mutation_p.G584R NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 584 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) ATCCTTAGTAGGAGTGGTGGT 0.448000 33 7 0 0 5.1965e-05 0 0 CPXM2 119587 broad.mit.edu 37 10 125539769 125539769 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr10:125539769G>A ENST00000241305.3 - 7 1046 c.892C>T c.(892-894)Cct>Tct p.P298S CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 298 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TAATTATTAGGATCTAGGGAC 0.468000 48 20 0 0 0.000125731 0 0 ACRC 93953 broad.mit.edu 37 X 70823635 70823635 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:70823635G>A ENST00000373695.1 + 7 1045 c.508G>A c.(508-510)Gac>Aac p.D170N ACRC_ENST00000373696.3_Missense_Mutation_p.D170N Q96QF7 ACRC_HUMAN acidic repeat containing 170 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) GGAAGCTCCCGACGACAACAG 0.502000 93 130 0 0 0.000147903 0 0 COL22A1 169044 broad.mit.edu 37 8 139697492 139697492 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:139697492C>T ENST00000303045.6 - 38 3372 c.2926G>A c.(2926-2928)Ggg>Agg p.G976R COL22A1_ENST00000435777.1_Missense_Mutation_p.G976R|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 976 Collagen-like 8.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGGGAGCCCAGGAGCACCA 0.582000 HNSCC(7;0.00092) 6 36 0 0 8.12818e-05 0 0 ABCC3 8714 broad.mit.edu 37 17 48741454 48741454 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr17:48741454G>A ENST00000285238.8 + 10 1400 c.1320G>A c.(1318-1320)gcG>gcA p.A440A ABCC3_ENST00000427699.1_Silent_p.A440A NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 440 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCATCCTGGCGATCTACTTCC 0.552000 32 46 0 0 8.91981e-05 0 0 ARID2 196528 broad.mit.edu 37 12 46233249 46233249 + Nonsense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr12:46233249C>T ENST00000334344.6 + 11 1640 c.1468C>T c.(1468-1470)Caa>Taa p.Q490* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q100*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q341* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 490 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAGCAAGTCCAAACCCAGAC 0.403000 """N, S, F""" hepatocellular carcinoma 53 11 0 0 0.000147903 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 5 70 0 0 3.59834e-05 0 0 IGFL1 374918 broad.mit.edu 37 19 46733596 46733596 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr19:46733596G>A ENST00000437936.1 + 3 168 c.145G>A c.(145-147)Gac>Aac p.D49N AC006262.10_ENST00000597337.1_RNA NM_198541.1 NP_940943.1 Q6UW32 IGFL1_HUMAN IGF-like family member 1 49 extracellular space protein binding lung(5) 5 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) CAAGTTCTACGACCCCCTGCA 0.572000 50 60 0 0 0.000147903 0 0 TTBK1 84630 broad.mit.edu 37 6 43227378 43227378 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr6:43227378G>A ENST00000259750.4 + 12 1441 c.1358G>A c.(1357-1359)aGg>aAg p.R453K TTBK1_ENST00000304139.5_Missense_Mutation_p.R402K NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 453 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CGCTACCGGAGGGTGAACAGC 0.682000 5 7 0 0 3.59834e-05 0 0 SLIT3 6586 broad.mit.edu 37 5 168199840 168199840 + Nonsense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr5:168199840G>A ENST00000519560.1 - 14 1824 c.1405C>T c.(1405-1407)Cga>Tga p.R469* SLIT3_ENST00000332966.8_Nonsense_Mutation_p.R469*|SLIT3_ENST00000404867.3_Nonsense_Mutation_p.R469* NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 469 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.R469*(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGGCGAGTCGGCGCGGGCTG 0.602000 28 24 0 0 0.000117367 0 0 CACNA1B 774 broad.mit.edu 37 9 140870378 140870378 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr9:140870378C>T ENST00000371372.1 + 12 1708 c.1563C>T c.(1561-1563)ttC>ttT p.F521F CACNA1B_ENST00000371363.1_Silent_p.F521F|CACNA1B_ENST00000277551.2_Silent_p.F521F|CACNA1B_ENST00000371357.1_Silent_p.F522F|CACNA1B_ENST00000371355.4_Silent_p.F522F|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 521 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) AGTTTGTTTTCCTGGGTCTCT 0.562000 10 18 0 0 6.40141e-05 0 0 WNK3 65267 broad.mit.edu 37 X 54263821 54263821 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:54263821G>A ENST00000354646.2 - 20 4616 c.4178C>T c.(4177-4179)tCg>tTg p.S1393L WNK3_ENST00000375159.2_Missense_Mutation_p.S1393L|WNK3_ENST00000375169.3_Missense_Mutation_p.S1346L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1346 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.S1393*(1) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ATAAGAAAACGAAGTTTTTGG 0.378000 40 68 0 0 4.2857e-05 0 0 SFPQ 6421 broad.mit.edu 37 1 35656521 35656521 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr1:35656521G>A ENST00000357214.5 - 3 1191 c.1093C>T c.(1093-1095)Cgc>Tgc p.R365C NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 365 RRM 1. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GTGGCAAAGCGAACTCGAAGC 0.443000 T TFE3 papillary renal cell 25 11 0 0 5.49717e-05 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110413798 110413798 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr8:110413798C>T ENST00000378402.5 + 14 1458 c.1354C>T c.(1354-1356)Cat>Tat p.H452Y NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 452 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGATGATATTCATCTGCAGAA 0.318000 HNSCC(38;0.096) 11 13 0 0 0.000151284 0 0 BRWD3 254065 broad.mit.edu 37 X 79978275 79978275 + Silent SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chrX:79978275C>T ENST00000373275.4 - 17 1878 c.1662G>A c.(1660-1662)caG>caA p.Q554Q NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 554 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GGAAGAACATCTGATCTGGAA 0.373000 24 27 0 0 9.22233e-05 0 0 OR4X1 390113 broad.mit.edu 37 11 48286114 48286114 + Silent SNP C C A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:48286114C>A ENST00000320048.1 + 1 702 c.702C>A c.(700-702)gcC>gcA p.A234A NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 AGCACAAGGCCCTCTCCACCT 0.542000 29 40 3.73988e-18 3.2724e-16 0.000147802 1 0 XYLB 9942 broad.mit.edu 37 3 38417660 38417660 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:38417660C>T ENST00000207870.3 + 13 1147 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C XYLB_ENST00000542835.1_Missense_Mutation_p.R216C NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 353 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GTCTGTATCCCGTTCCTGGAG 0.562000 47 80 0 0 0.000147903 0 0 OR4K5 79317 broad.mit.edu 37 14 20389211 20389211 + Missense_Mutation SNP G G T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr14:20389211G>T ENST00000315915.4 + 1 471 c.446G>T c.(445-447)tGg>tTg p.W149L NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGATCTCCTGGGCTGTGAGC 0.438000 50 58 2.27781e-18 2.01104e-16 0.000147903 1 0 OR4X1 390113 broad.mit.edu 37 11 48286113 48286113 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:48286113C>T ENST00000320048.1 + 1 701 c.701C>T c.(700-702)gCc>gTc p.A234V NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CAGCACAAGGCCCTCTCCACC 0.547000 28 39 0 0 0.000117367 0 0 TKT 7086 broad.mit.edu 37 3 53260800 53260800 + Silent SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:53260800G>A ENST00000462138.1 - 13 1756 c.1668C>T c.(1666-1668)atC>atT p.I556I TKT_ENST00000296289.6_Silent_p.I509I|TKT_ENST00000423525.2_Silent_p.I556I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.I564I P29401 TKT_HUMAN transketolase 556 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CCACGGTGAGGATCCTGCCCT 0.587000 25 24 0 0 4.16121e-05 0 0 BCL11A 53335 broad.mit.edu 37 2 60688288 60688288 + Missense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:60688288C>T ENST00000335712.6 - 4 1986 c.1759G>A c.(1759-1761)Gaa>Aaa p.E587K BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.E553K|BCL11A_ENST00000358510.4_Missense_Mutation_p.E553K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E587K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E256K NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 587 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACCGAGTCTTCGTCGCAAGTG 0.672000 T IGH@ B-CLL 80 24 0 0 0.000147903 0 0 LYPD6B 130576 broad.mit.edu 37 2 150071082 150071082 + Missense_Mutation SNP G G A TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr2:150071082G>A ENST00000409642.3 + 7 883 c.482G>A c.(481-483)gGa>gAa p.G161E LYPD6B_ENST00000409876.1_Missense_Mutation_p.G137E|LYPD6B_ENST00000409029.1_Missense_Mutation_p.G137E|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.G161E NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 137 anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TGCTGTGAAGGAATGATCTGC 0.433000 32 38 0 0 2.86225e-05 0 0 C11orf84 144097 broad.mit.edu 37 11 63586327 63586327 + Nonsense_Mutation SNP C C T TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr11:63586327C>T ENST00000294244.4 + 5 1086 c.787C>T c.(787-789)Cga>Tga p.R263* NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 263 endometrium(3)|kidney(1)|lung(3)|skin(1) 8 AGCCGAGGTCCGACACTTCAC 0.622000 24 44 0 0 0.000147802 0 0 CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 82 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39261568 39261570 + In_Frame_Del DEL GCT GCT - TCGA-BF-A1PU-01A-11D-A19A-08 TCGA-BF-A1PU-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30ba63c3-2425-434a-ae62-d4fe1479f3c0 b53844f5-2249-4ce5-9ea7-e7a0286ee5ec g.chr13:39261568_39261570delGCT ENST00000280481.7 + 1 303_305 c.87_89delGCT c.(85-90)cgg>cg p.RL29del NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 29 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) CGCCGCCCCGgctgctgctgctg 0.695 2 4 --- --- --- ---