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 CYP4F3 4051 broad.mit.edu 37 19 15752390 15752390 + Silent SNP G G A rs150573744 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:15752390G>A ENST00000221307.7 + 2 213 c.165G>A c.(163-165)ccG>ccA p.P55P CYP4F3_ENST00000586182.1_Silent_p.P55P|CYP4F3_ENST00000585846.1_Silent_p.P55P|CYP4F3_ENST00000591058.1_Silent_p.P55P NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 55 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CGCAACCCCCGAAACGGAATT 0.617000 29 41 0 0 0.001786 0 0 KIAA1432 57589 broad.mit.edu 37 9 5772613 5772613 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:5772613C>T ENST00000414202.2 + 24 3857 c.3666C>T c.(3664-3666)tcC>tcT p.S1222S KIAA1432_ENST00000418622.3_Silent_p.S1143S|KIAA1432_ENST00000449720.2_Silent_p.S1106S NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1222 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AAAGTAGCTCCATGGTGGATG 0.428000 20 6 0 0 0.001523 0 0 IQCA1 79781 broad.mit.edu 37 2 237396737 237396737 + Missense_Mutation SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:237396737T>C ENST00000409907.3 - 4 828 c.554A>G c.(553-555)aAg>aGg p.K185R IQCA1_ENST00000309507.5_Missense_Mutation_p.K181R|IQCA1_ENST00000431676.2_Missense_Mutation_p.K185R Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 185 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ATAGATTTGCTTCATGAATAA 0.453000 4 6 0 0 0.000602 0 0 RPN2 6185 broad.mit.edu 37 20 35833181 35833181 + Silent SNP T T G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:35833181T>G ENST00000237530.6 + 6 878 c.567T>G c.(565-567)gcT>gcG p.A189A RPN2_ENST00000373622.5_Silent_p.A157A NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 189 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) ACCTTGTTGCTCGCCTGGATG 0.488000 63 65 0 0 0.003610 0 0 CALR3 125972 broad.mit.edu 37 19 16590073 16590073 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:16590073C>T ENST00000269881.3 - 9 1086 c.1024G>A c.(1024-1026)Gag>Aag p.E342K CTD-3222D19.2_ENST00000409035.1_3'UTR NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 342 C-domain.|Glu/Lys-rich. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 GCATCCATCTCCCTTTCTGGA 0.532000 29 52 0 0 0.008361 0 0 PCLO 27445 broad.mit.edu 37 7 82544905 82544905 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:82544905G>A ENST00000423517.2 - 7 12734 c.12397C>T c.(12397-12399)Cgt>Tgt p.R4133C PCLO_ENST00000333891.8_Missense_Mutation_p.R4133C|PCLO_ENST00000437081.1_Missense_Mutation_p.R853C NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4064 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 GTCCCTCTACGAAATTCCTGT 0.408000 38 41 0 0 0.004878 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789847 133789847 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:133789847G>A ENST00000321016.8 - 18 4003 c.3773C>T c.(3772-3774)cCc>cTc p.P1258L IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1258L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1258 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTCTGGGAGGGGGAGCCTGT 0.692000 5 33 0 0 0.001168 0 0 ADAP2 55803 broad.mit.edu 37 17 29261253 29261253 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:29261253C>T ENST00000330889.3 + 5 783 c.448C>T c.(448-450)Ctg>Ttg p.L150L ADAP2_ENST00000580525.1_Silent_p.L156L NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 150 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CTCACAGTTTCTGAGAAGGAA 0.483000 20 29 0 0 0.002780 0 0 ACOX2 8309 broad.mit.edu 37 3 58517093 58517093 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:58517093C>T ENST00000302819.5 - 7 995 c.703_splice c.e7-1 p.G235_splice ACOX2_ENST00000459701.2_Splice_Site_p.G235_splice NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 235 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) AATGATGATTCCTTGAAGGAG 0.507000 14 28 0 0 0.002450 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654804 8654804 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:8654804C>T ENST00000595838.1 - 3 374 c.341G>A c.(340-342)gGa>gAa p.G114E ADAMTS10_ENST00000270328.4_Silent_p.G623G|ADAMTS10_ENST00000597188.1_Silent_p.G623G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 0 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TGTAGAATTTCCCACGGAAAG 0.587000 21 44 0 0 0.002299 0 0 OR2F2 135948 broad.mit.edu 37 7 143633082 143633082 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:143633082G>A ENST00000408955.2 + 1 824 c.757G>A c.(757-759)Ggc>Agc p.G253S NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CCTGTGCTACGGCACAACGAT 0.512000 75 11 0 0 0.003610 0 0 ABCA6 23460 broad.mit.edu 37 17 67109458 67109458 + Missense_Mutation SNP G G A rs34123357 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:67109458G>A ENST00000284425.2 - 15 2120 c.1946C>T c.(1945-1947)tCc>tTc p.S649F NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 649 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTGATCTCTGGAAAAGGGATC 0.418000 18 14 0 0 0.007413 0 0 EXPH5 23086 broad.mit.edu 37 11 108383806 108383806 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:108383806G>A ENST00000265843.4 - 6 2538 c.2428C>T c.(2428-2430)Ctt>Ttt p.L810F EXPH5_ENST00000428840.1_Missense_Mutation_p.L734F|EXPH5_ENST00000443411.1_Missense_Mutation_p.L622F|EXPH5_ENST00000525344.1_Missense_Mutation_p.L803F NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 810 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATGAAAGGAAGGGAAGCTGTT 0.378000 53 74 0 0 0.003610 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249851 68249851 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:68249851G>A ENST00000347230.4 - 21 4156 c.4018C>T c.(4018-4020)Cgt>Tgt p.R1340C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R1340C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1340 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGCGGCCACGAAGTTCCTTC 0.592000 34 60 0 0 0.003755 0 0 MGAM 8972 broad.mit.edu 37 7 141802440 141802440 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:141802440G>A ENST00000475668.2 + 69 8028 c.7974G>A c.(7972-7974)ggG>ggA p.G2658G MGAM_ENST00000549489.2_Silent_p.G1762G O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1762 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATACCTATGGGAAAGGACTCT 0.418000 15 9 0 0 0.002450 0 0 CGNL1 84952 broad.mit.edu 37 15 57731076 57731076 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:57731076C>T ENST00000281282.5 + 2 957 c.879C>T c.(877-879)tcC>tcT p.S293S NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 293 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GAGCTCGGTCCCGGAGGTCCT 0.562000 15 10 0 0 0.004990 0 0 PPM1H 57460 broad.mit.edu 37 12 63225985 63225985 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:63225985G>A ENST00000228705.6 - 2 620 c.320C>T c.(319-321)gCa>gTa p.A107V NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 107 phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CACGGCCCCTGCCTTCTTCTT 0.557000 14 9 0 0 0.002450 0 0 PHACTR1 221692 broad.mit.edu 37 6 13206120 13206120 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:13206120G>A ENST00000379350.1 + 7 867 c.738G>A c.(736-738)atG>atA p.M246I PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.M101I|PHACTR1_ENST00000332995.7_Missense_Mutation_p.M246I Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 246 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity p.M246I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) AGAAAGTCATGATCTGTATGC 0.602000 152 292 0 0 0.003610 0 0 UAP1 6675 broad.mit.edu 37 1 162536125 162536125 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:162536125C>T ENST00000271469.3 + 2 569 c.267C>T c.(265-267)gcC>gcT p.A89A UAP1_ENST00000367925.1_Silent_p.A89A|UAP1_ENST00000367924.1_Silent_p.A89A|UAP1_ENST00000367926.4_Silent_p.A89A Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 89 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGCTCCAGGCCTGGGAAAGTG 0.413000 15 46 0 0 0.002450 0 0 OR5D16 390144 broad.mit.edu 37 11 55607076 55607076 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:55607076G>A ENST00000378396.1 + 1 849 c.849G>A c.(847-849)gtG>gtA p.V283V NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) ACACCGTGGTGATCCCCTTGT 0.403000 34 26 0 0 0.002222 0 0 ERN2 10595 broad.mit.edu 37 16 23703508 23703508 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:23703508G>A ENST00000256797.4 - 18 2557 c.2389C>T c.(2389-2391)Cac>Tac p.H797Y ERN2_ENST00000457008.2_Missense_Mutation_p.H697Y NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 749 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCCTCACCGTGGACCTCTTCC 0.612000 58 67 0 0 0.003610 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751744 140751744 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140751744G>A ENST00000576222.1 + 1 1914 c.1783G>A c.(1783-1785)Gac>Aac p.D595N PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGGTGGACGCAGACTC 0.667000 32 55 0 0 0.002836 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724540 38724540 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:38724540C>T ENST00000342213.2 - 1 1034 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 230 integral to membrane sugar binding p.E230K(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCGCCGATTTCGTCCGCGATG 0.637000 89 106 0 0 0.003610 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541288 178541288 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:178541288C>T ENST00000251582.7 - 22 3317 c.3216G>A c.(3214-3216)agG>agA p.R1072R NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1072 PLAC. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGACTTCCATCCTACAGAATA 0.498000 20 22 0 0 0.002299 0 0 WARS 7453 broad.mit.edu 37 14 100828141 100828141 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:100828141G>A ENST00000355338.2 - 3 835 c.217C>T c.(217-219)Cat>Tat p.H73Y WARS_ENST00000344102.5_Missense_Mutation_p.H32Y|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000557135.1_Missense_Mutation_p.H73Y|WARS_ENST00000392882.2_Missense_Mutation_p.H73Y|WARS_ENST00000358655.4_Missense_Mutation_p.H32Y|WARS_ENST00000556645.1_Missense_Mutation_p.H32Y NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 73 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCTGGGCCATGATTACTGGTA 0.488000 64 110 0 0 0.003610 0 0 SPINT1 6692 broad.mit.edu 37 15 41146839 41146839 + Missense_Mutation SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:41146839A>T ENST00000344051.4 + 8 1351 c.1117A>T c.(1117-1119)Acg>Tcg p.T373S SPINT1_ENST00000431806.1_Missense_Mutation_p.T357S|SPINT1_ENST00000562057.1_Missense_Mutation_p.T357S O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 373 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CTCTGCAGACACGAGTGGCTT 0.602000 32 43 0 0 0.002836 0 0 VPS13D 55187 broad.mit.edu 37 1 12371558 12371558 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:12371558C>T ENST00000358136.3 + 28 6828 c.6698C>T c.(6697-6699)tCc>tTc p.S2233F VPS13D_ENST00000356315.4_Missense_Mutation_p.S2233F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2233 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGCAATCTCTCCTCAGTCCAC 0.408000 34 37 0 0 0.003755 0 0 CSNK1G1 53944 broad.mit.edu 37 15 64508805 64508805 + Nonsense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:64508805G>A ENST00000303052.7 - 5 823 c.400C>T c.(400-402)Cga>Tga p.R134* CSNK1G1_ENST00000607537.1_Nonsense_Mutation_p.R134*|CTD-2116N17.1_ENST00000606793.1_Nonsense_Mutation_p.R107*|CSNK1G1_ENST00000303032.6_Nonsense_Mutation_p.R134* NM_022048.3 NP_071331.2 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 134 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 GTAAATGTTCGGTCACAGAGG 0.463000 17 23 0 0 0.004990 0 0 NUTM2G 441457 broad.mit.edu 37 9 99691310 99691310 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:99691310G>A ENST00000354649.3 + 1 719 c.4G>A c.(4-6)Gct>Act p.A2T HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.A2T NM_001045477.2 NP_001038942.1 NUT family member 2G TGAGGGGATGGCTTCAAATGG 0.537000 51 20 0 0 0.003610 0 0 LRPPRC 10128 broad.mit.edu 37 2 44209439 44209439 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:44209439C>T ENST00000260665.7 - 2 341 c.284G>A c.(283-285)cGa>cAa p.R95Q LRPPRC_ENST00000409946.1_Missense_Mutation_p.R95Q|LRPPRC_ENST00000409659.1_Missense_Mutation_p.R95Q NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 95 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GCCAGTTCTTCGAACAGAAAG 0.378000 128 199 0 0 0.003610 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202658 140202658 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140202658C>T ENST00000529859.1 + 1 1298 c.1298C>T c.(1297-1299)tCg>tTg p.S433L PCDHA5_ENST00000529619.1_Missense_Mutation_p.S433L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S433L|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.637000 51 68 0 0 0.003610 0 0 LY6G6C 80740 broad.mit.edu 37 6 31686890 31686890 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:31686890G>A ENST00000375819.2 - 3 526 c.361C>T c.(361-363)Ctc>Ttc p.L121F LY6G6C_ENST00000495859.1_Missense_Mutation_p.L65F NM_025261.2 NP_079537.1 O95867 LY66C_HUMAN lymphocyte antigen 6 complex, locus G6C 121 anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 AGCAGCCAGAGGCCAAGGCCA 0.607000 156 363 0 0 0.003610 0 0 SFMBT2 57713 broad.mit.edu 37 10 7230608 7230608 + Nonsense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:7230608G>A ENST00000361972.4 - 16 1876 c.1786C>T c.(1786-1788)Cag>Tag p.Q596* SFMBT2_ENST00000397167.1_Nonsense_Mutation_p.Q596* NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 596 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GTCTCTTCCTGGAAATTCCAG 0.428000 36 11 0 0 0.006230 0 0 OR14A16 284532 broad.mit.edu 37 1 247978792 247978792 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:247978792G>A ENST00000357627.1 - 1 239 c.240C>T c.(238-240)atC>atT p.I80I NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I80I(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AAGAATTGGCGATAGATTTGG 0.443000 28 26 0 0 0.004656 0 0 ZNF676 163223 broad.mit.edu 37 19 22362962 22362962 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:22362962G>A ENST00000397121.2 - 3 1874 c.1557C>T c.(1555-1557)atC>atT p.I519I NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTTCAGTAAGGATCGAGGACC 0.398000 18 25 0 0 0.006122 0 0 PHF3 23469 broad.mit.edu 37 6 64404537 64404537 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:64404537C>T ENST00000262043.3 + 6 2903 c.2563C>T c.(2563-2565)Cct>Tct p.P855S PHF3_ENST00000393387.1_Missense_Mutation_p.P855S Q92576 PHF3_HUMAN PHD finger protein 3 855 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GCAGCTAGCTCCTCTTCGTAA 0.378000 53 86 0 0 0.003610 0 0 AE000661.37 0 broad.mit.edu 37 14 22891808 22891808 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22891808C>T ENST00000514473.2 - 0 225 AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000545670.1_RNA|TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000535351.1_RNA CTGCCACCCTCAGGTGCTCCA 0.488000 47 42 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857890 9857890 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:9857890G>A ENST00000396573.2 - 14 3820 c.3511C>T c.(3511-3513)Ccc>Tcc p.P1171S GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1171S|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1171S|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1171S|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1171S|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P1014S NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1171 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTATGCAAGGGGTTCCGGTTC 0.542000 78 95 0 0 0.003610 0 0 PPFIA4 8497 broad.mit.edu 37 1 203020942 203020942 + Silent SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:203020942A>T ENST00000367240.2 + 13 2021 c.1494A>T c.(1492-1494)acA>acT p.T498T PPFIA4_ENST00000414050.2_Silent_p.T226T|PPFIA4_ENST00000295706.4_Silent_p.T13T|PPFIA4_ENST00000272198.6_Silent_p.T13T|PPFIA4_ENST00000447715.2_Silent_p.T523T|PPFIA4_ENST00000599966.1_Silent_p.T13T O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 13 SAM 2. cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CCCTGGGCACAACCACACACG 0.637000 15 18 0 0 0.004007 0 0 VWA5A 4013 broad.mit.edu 37 11 124012361 124012361 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124012361G>A ENST00000456829.2 + 16 2187 c.1936G>A c.(1936-1938)Gaa>Aaa p.E646K VWA5A_ENST00000392748.1_Missense_Mutation_p.E646K|VWA5A_ENST00000360334.4_Silent_p.G407G NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 646 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GCCCAGAGGGGAACTTATGTG 0.473000 24 49 0 0 0.004656 0 0 OR2B2 81697 broad.mit.edu 37 6 27879182 27879182 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:27879182C>T ENST00000303324.2 - 1 992 c.916G>A c.(916-918)Gca>Aca p.A306T NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGACTCTTTGCAACCAACCTT 0.378000 26 50 0 0 0.007291 0 0 KCND2 3751 broad.mit.edu 37 7 119914791 119914791 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:119914791G>A ENST00000331113.4 + 1 1070 c.105G>A c.(103-105)agG>agA p.R35R NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 35 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGCAGGAGAGGAAAAGGACCC 0.637000 80 149 0 0 0.003610 0 0 B3GALT4 8705 broad.mit.edu 37 6 33246133 33246133 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:33246133G>A ENST00000451237.1 + 1 1217 c.937G>A c.(937-939)Ggt>Agt p.G313S NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 313 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CAAGCTGGCTGGTGCCACCCA 0.622000 99 55 0 0 0.003610 0 0 TRAJ39 28716 broad.mit.edu 37 14 22970647 22970647 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22970647C>T ENST00000390498.1 + 0 63 GGTCAAACCCCGTGAGTATCT 0.408000 19 33 0 0 0.007413 0 0 GEM 2669 broad.mit.edu 37 8 95262655 95262655 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:95262655C>T ENST00000297596.2 - 5 1038 c.774G>A c.(772-774)agG>agA p.R258R GEM_ENST00000396194.2_Silent_p.R258R NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 258 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGCTCTCCTTCCTTTTCTGGT 0.552000 26 40 0 0 0.003954 0 0 GPR98 84059 broad.mit.edu 37 5 89979464 89979464 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:89979464C>T ENST00000405460.2 + 28 5822 c.5726C>T c.(5725-5727)cCt>cTt p.P1909L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1909 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GACTCTGATCCTGATGGTGAT 0.413000 11 15 0 0 0.000978 0 0 DOCK8 81704 broad.mit.edu 37 9 340242 340242 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:340242C>T ENST00000432829.2 + 14 1712 c.1396C>T c.(1396-1398)Cct>Tct p.P466S DOCK8_ENST00000453981.1_Missense_Mutation_p.P534S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P466S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 534 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAAACCCTTTCCTGAAAACCG 0.468000 35 12 0 0 0.004289 0 0 AREG 374 broad.mit.edu 37 4 75312457 75312457 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:75312457G>A ENST00000395748.3 + 2 480 c.268G>A c.(268-270)Gaa>Aaa p.E90K AREG_ENST00000264487.2_Missense_Mutation_p.E90K|AREG_ENST00000502307.1_Missense_Mutation_p.E90K NM_001657.2 NP_001648.1 P15514 AREG_HUMAN amphiregulin 90 cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication cell surface|extracellular space|integral to membrane cytokine activity|growth factor activity lung(4) 4 Lung(101;0.196) GTATGATAACGAACCACAAAT 0.448000 39 55 0 0 0.003610 0 0 KCNJ9 3765 broad.mit.edu 37 1 160053979 160053979 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:160053979G>A ENST00000368088.3 + 2 401 c.159G>A c.(157-159)gtG>gtA p.V53V NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 53 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCACGCTGGTGGACCTGCAGT 0.657000 4 10 0 0 0.000248 0 0 LRRC14B 389257 broad.mit.edu 37 5 194850 194850 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:194850G>A ENST00000328278.3 + 2 955 c.927G>A c.(925-927)ctG>ctA p.L309L NM_001080478.1 NP_001073947.1 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 309 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 10 TGCGAGTACTGGACCTGGCCA 0.647000 7 11 0 0 0.000978 0 0 LRRC32 2615 broad.mit.edu 37 11 76372239 76372239 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:76372239C>T ENST00000407242.2 - 3 640 c.398G>A c.(397-399)gGg>gAg p.G133E LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.G133E|LRRC32_ENST00000404995.1_Missense_Mutation_p.G133E NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 133 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CAGGCTGTTCCCAGACAGGTC 0.687000 25 35 0 0 0.006320 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996436 140996436 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:140996436G>A ENST00000285879.4 + 4 3532 c.3246G>A c.(3244-3246)agG>agA p.R1082R MAGEC1_ENST00000406005.2_Silent_p.R149R NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1082 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCATTAAGAGGAAAGTAGTAG 0.468000 HNSCC(15;0.026) 87 110 0 0 0.003610 0 0 SRRM2 23524 broad.mit.edu 37 16 2811981 2811981 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:2811981C>T ENST00000301740.8 + 11 2001 c.1452C>T c.(1450-1452)tcC>tcT p.S484S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 484 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGGGGAGGTCCCGTAGCCCTG 0.557000 14 28 0 0 0.003163 0 0 DNAH2 146754 broad.mit.edu 37 17 7663240 7663240 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:7663240C>T ENST00000572933.1 + 17 4229 c.2769C>T c.(2767-2769)ccC>ccT p.P923P DNAH2_ENST00000389173.2_Silent_p.P923P Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 923 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATCGTGAACCCATCCAAACAG 0.562000 77 117 0 0 0.003610 0 0 PROC 5624 broad.mit.edu 37 2 128186044 128186044 + Missense_Mutation SNP T T G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:128186044T>G ENST00000453608.2 + 8 1081 c.1073T>G c.(1072-1074)cTg>cGg p.L358R PROC_ENST00000234071.3_Missense_Mutation_p.L303R|PROC_ENST00000422777.3_Missense_Mutation_p.L303R|PROC_ENST00000409048.1_Missense_Mutation_p.L337R P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 303 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ATCGCACTGCTGCACCTGGCC 0.647000 28 31 0 0 0.006320 0 0 DENND5A 23258 broad.mit.edu 37 11 9225656 9225656 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:9225656G>A ENST00000328194.3 - 4 820 c.500C>T c.(499-501)cCc>cTc p.P167L DENND5A_ENST00000530044.1_Missense_Mutation_p.P167L NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 167 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ATCAGCAGGGGGAGCATGTAG 0.512000 22 42 0 0 0.001523 0 0 TSSC2 650368 broad.mit.edu 37 11 3426096 3426096 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:3426096C>T ENST00000529482.1 + 0 845 AAAGGGCCTCCGAGGGAGTAT 0.602000 5 47 0 0 0.003080 0 0 OR8B12 219858 broad.mit.edu 37 11 124413368 124413368 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124413368G>A ENST00000306842.2 - 1 207 c.183C>T c.(181-183)ttC>ttT p.F61F NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GGTTAAAAAGGAAGAAGTACA 0.453000 26 40 0 0 0.003954 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615614 140615614 + RNA SNP G G T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140615614G>T ENST00000526308.1 + 0 1677 NR_001281.1 p.P443P(1) endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CCCAGGACCCGCACCTGCCCC 0.647000 5 159 0.00198382 0.00218931 0.001984 1 0 NPAP1 23742 broad.mit.edu 37 15 24923948 24923948 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:24923948G>A ENST00000329468.2 + 1 3408 c.2934G>A c.(2932-2934)aaG>aaA p.K978K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GCACAGCAAAGACTTCTGGAT 0.483000 19 40 0 0 0.008871 0 0 SF3A2 8175 broad.mit.edu 37 19 2243473 2243473 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:2243473C>T ENST00000221494.4 + 2 474 c.56C>T c.(55-57)tCc>tTc p.S19F NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa 19 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 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) GTGGCCTCCTCCTCCGAGAGC 0.672000 36 45 0 0 0.007835 0 0 CYP2C19 1557 broad.mit.edu 37 10 96602760 96602760 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:96602760C>T ENST00000371321.3 + 7 1210 c.1128C>T c.(1126-1128)ttC>ttT p.F376F CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 376 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) ACGTTAAATTCAGAAACTACC 0.473000 31 13 0 0 0.001786 0 0 POTEC 388468 broad.mit.edu 37 18 14534957 14534957 + Missense_Mutation SNP A A C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:14534957A>C ENST00000358970.5 - 4 859 c.860T>G c.(859-861)gTg>gGg p.V287G POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 287 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAATTTCACCACTTGCTGTTT 0.289000 16 82 0 0 0.008740 0 0 ARNT 405 broad.mit.edu 37 1 150812125 150812125 + Missense_Mutation SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:150812125T>C ENST00000358595.5 - 6 478 c.278A>G c.(277-279)aAt>aGt p.N93S ARNT_ENST00000515192.1_Missense_Mutation_p.N84S|ARNT_ENST00000505755.1_Missense_Mutation_p.N78S|ARNT_ENST00000354396.2_Missense_Mutation_p.N93S NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 93 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TTCACTGTGATTTTCCCTGCA 0.498000 T ETV6 AML 21 6 0 0 0.001523 0 0 ZNF28 7576 broad.mit.edu 37 19 53303922 53303922 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:53303922G>A ENST00000438150.2 - 2 1910 c.1017C>T c.(1015-1017)ttC>ttT p.F339F ZNF28_ENST00000360272.4_Silent_p.F339F|ZNF28_ENST00000457749.2_Silent_p.F392F|ZNF28_ENST00000414252.2_Silent_p.F339F P17035 ZNF28_HUMAN zinc finger protein 28 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTTGCGACTGAAAACTTTTT 0.383000 27 107 0 0 0.003954 0 0 ZBTB11 27107 broad.mit.edu 37 3 101383815 101383815 + Missense_Mutation SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:101383815A>G ENST00000312938.4 - 4 2196 c.1616T>C c.(1615-1617)gTt>gCt p.V539A NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TACCTGTTGAACTGCTGACTT 0.398000 50 63 0 0 0.003610 0 0 F7 2155 broad.mit.edu 37 13 113771805 113771805 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:113771805G>A ENST00000375581.3 + 8 735 c.700G>A c.(700-702)Gga>Aga p.G234R F7_ENST00000541084.1_Missense_Mutation_p.G165R|F7_ENST00000346342.3_Missense_Mutation_p.G212R NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 234 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTTGGTGAATGGAGCTCAGTT 0.572000 49 54 0 0 0.003610 0 0 ZNF839 55778 broad.mit.edu 37 14 102792356 102792356 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:102792356G>A ENST00000442396.2 + 2 338 c.323G>A c.(322-324)gGa>gAa p.G108E ZNF839_ENST00000262236.5_5'UTR|ZNF839_ENST00000558850.1_5'UTR|ZNF839_ENST00000559185.1_5'UTR A8K0R7 ZN839_HUMAN zinc finger protein 839 0 Poly-Ser. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GTAACGTCTGGAGAAACAAAA 0.478000 13 13 0 0 0.001368 0 0 CD163 9332 broad.mit.edu 37 12 7640090 7640090 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:7640090C>T ENST00000359156.4 - 8 2117 c.1915G>A c.(1915-1917)Gga>Aga p.G639R CD163_ENST00000432237.2_Missense_Mutation_p.G639R|CD163_ENST00000541972.1_Missense_Mutation_p.G627R|CD163_ENST00000396620.3_Missense_Mutation_p.G672R NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 639 SRCR 6. 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 TTTCCTTTTCCAAAACGTGCT 0.483000 38 73 0 0 0.002222 0 0 DSCR10 259234 broad.mit.edu 37 21 39580344 39580344 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:39580344C>T ENST00000432141.1 + 0 466 NR_027695.1 TCCTGGGCTCCAGACAGAAAC 0.587000 45 58 0 0 0.003214 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564905 47564905 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:47564905G>A ENST00000334194.3 + 8 1019 c.1016G>A c.(1015-1017)aGa>aAa p.R339K CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 339 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CATCAGCAGAGATGCCGAGAT 0.453000 24 24 0 0 0.003330 0 0 CD84 8832 broad.mit.edu 37 1 160535385 160535385 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:160535385C>T ENST00000368054.3 - 2 232 c.197G>A c.(196-198)gGa>gAa p.G66E CD84_ENST00000534968.1_Intron|CD84_ENST00000368048.3_Missense_Mutation_p.G66E|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Missense_Mutation_p.G66E|CD84_ENST00000368051.3_Missense_Mutation_p.G66E NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 66 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TTCTGAGTCTCCTGGTGTTAC 0.428000 100 74 0 0 0.003610 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43577766 43577766 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:43577766G>A ENST00000409746.5 - 9 662 c.591C>T c.(589-591)acC>acT p.T197T PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Silent_p.T197T NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 197 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 CCTTATCCAGGGTGCCGATGT 0.587000 46 69 0 0 0.003610 0 0 KDR 3791 broad.mit.edu 37 4 55970857 55970857 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:55970857C>T ENST00000263923.4 - 13 2235 c.1940G>A c.(1939-1941)aGg>aAg p.R647K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 647 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTGGTCTTCCTGTCTTGAGC 0.463000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 16 14 0 0 0.006122 0 0 BARX2 8538 broad.mit.edu 37 11 129306863 129306863 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:129306863G>A ENST00000281437.4 + 2 501 c.405G>A c.(403-405)cgG>cgA p.R135R BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 135 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) AGCCCCGCCGGAGTCGCACCA 0.627000 11 9 0 0 0.000978 0 0 PRDM2 7799 broad.mit.edu 37 1 14105503 14105503 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:14105503C>T ENST00000235372.7 + 8 2069 c.1213C>T c.(1213-1215)Cgg>Tgg p.R405W PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.R204W|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R204W|PRDM2_ENST00000311066.5_Missense_Mutation_p.R405W NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 405 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACAGATTAACCGGCGGCGACA 0.517000 22 34 0 0 0.002299 0 0 CHD6 84181 broad.mit.edu 37 20 40079728 40079728 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:40079728G>A ENST00000373233.3 - 23 3718 c.3541C>T c.(3541-3543)Ccc>Tcc p.P1181S CHD6_ENST00000309279.7_Missense_Mutation_p.P664S NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1181 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTCCCTCTGGGGACTGGGGCA 0.542000 32 56 0 0 0.004878 0 0 PRDM2 7799 broad.mit.edu 37 1 14105501 14105501 + Missense_Mutation SNP A A C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:14105501A>C ENST00000235372.7 + 8 2067 c.1211A>C c.(1210-1212)aAc>aCc p.N404T PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.N203T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.N203T|PRDM2_ENST00000311066.5_Missense_Mutation_p.N404T NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 404 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACACAGATTAACCGGCGGCGA 0.517000 20 34 0 0 0.001882 0 0 IQCA1 79781 broad.mit.edu 37 2 237272553 237272553 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:237272553C>T ENST00000409907.3 - 15 2013 c.1739G>A c.(1738-1740)gGg>gAg p.G580E IQCA1_ENST00000309507.5_Missense_Mutation_p.G577E|IQCA1_ENST00000431676.2_Missense_Mutation_p.G539E Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 580 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CATTTTCTTCCCTACCCCAGA 0.507000 30 43 0 0 0.007291 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406235 39406235 + Missense_Mutation SNP C C A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:39406235C>A ENST00000334109.2 + 1 297 c.263C>A c.(262-264)tCc>tAc p.S88Y NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 88 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGTGGGTCCAGCTGTGAC 0.597000 45 68 6.57855e-14 7.3183e-14 0.002222 1 0 ZNF780A 284323 broad.mit.edu 37 19 40581187 40581187 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:40581187G>A ENST00000450241.2 - 6 1371 c.1060C>T c.(1060-1062)Ccg>Tcg p.P354S AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.P389S|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.P389S|ZNF780A_ENST00000595687.2_Missense_Mutation_p.P388S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.P388S O75290 Z780A_HUMAN zinc finger protein 780A 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CATTCAAACGGTTTTTCACCT 0.403000 49 161 0 0 0.003610 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85492149 85492149 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:85492149G>A ENST00000393217.2 + 12 2965 c.2904G>A c.(2902-2904)ttG>ttA p.L968L NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 968 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TAGAATCTTTGAAAAATCTTC 0.313000 11 14 0 0 0.000978 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532658 84532658 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:84532658G>A ENST00000527857.1 + 0 2680 NR_026851.1 TGGTAGCATTGGTGAGTGAGG 0.428000 18 7 0 0 0.001523 0 0 DFNB31 25861 broad.mit.edu 37 9 117168912 117168912 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:117168912G>A ENST00000362057.3 - 9 2127 c.1959C>T c.(1957-1959)tcC>tcT p.S653S DFNB31_ENST00000265134.6_Silent_p.S270S|DFNB31_ENST00000374059.3_Silent_p.S302S NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 653 Pro-rich. inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGGGGAGACGGAGGCATAGA 0.682000 42 16 0 0 0.002852 0 0 GLIS1 148979 broad.mit.edu 37 1 53975537 53975537 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:53975537G>A ENST00000312233.2 - 8 2088 c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 508 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GGGCTGGGCAGAGGCGGGGGT 0.657000 11 18 0 0 0.003163 0 0 IL4R 3566 broad.mit.edu 37 16 27367137 27367137 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:27367137G>A ENST00000395762.2 + 8 938 c.679G>A c.(679-681)Gag>Aag p.E227K IL4R_ENST00000380922.3_Missense_Mutation_p.E212K|IL4R_ENST00000170630.2_Missense_Mutation_p.E227K|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Missense_Mutation_p.E227K NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 227 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 AGCCTACAGGGAGCCCTTCGA 0.607000 18 40 0 0 0.007413 0 0 MLX 6945 broad.mit.edu 37 17 40722080 40722080 + Missense_Mutation SNP A A G rs143736694 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:40722080A>G ENST00000246912.4 + 7 772 c.719A>G c.(718-720)aAc>aGc p.N240S MLX_ENST00000346833.4_Missense_Mutation_p.N156S|MLX_ENST00000435881.2_Missense_Mutation_p.N186S NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 240 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) GTCAAGTTCAACGTGTTTCAA 0.537000 36 46 0 0 0.003271 0 0 WNT5B 81029 broad.mit.edu 37 12 1749083 1749083 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:1749083G>A ENST00000397196.2 + 4 794 c.562G>A c.(562-564)Gga>Aga p.G188R WNT5B_ENST00000310594.3_Missense_Mutation_p.G188R|WNT5B_ENST00000537031.1_Missense_Mutation_p.G188R|WNT5B_ENST00000542408.1_Intron NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 188 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) CTTTGCCAAAGGATCAGAGGA 0.632000 11 23 0 0 0.008291 0 0 MSRA 4482 broad.mit.edu 37 8 10159066 10159066 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:10159066C>T ENST00000528246.1 + 5 779 c.156C>T c.(154-156)gtC>gtT p.V52V MSRA_ENST00000441698.2_Silent_p.V78V|MSRA_ENST00000518255.1_Silent_p.V118V|MSRA_ENST00000382490.5_Silent_p.V75V|MSRA_ENST00000317173.4_Silent_p.V118V NM_001199729.1 NP_001186658.1 Q9UJ68 MSRA_HUMAN methionine sulfoxide reductase A 118 methionine metabolic process|protein modification process|response to oxidative stress mitochondrion|nucleus peptide-methionine-(S)-S-oxide reductase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4) 8 Myeloproliferative disorder(644;0.178) L-Methionine(DB00134) ATGCAGAAGTCGTCCGAGTGG 0.428000 21 8 0 0 0.001882 0 0 SPATA31A2 642265 broad.mit.edu 37 9 39888169 39888169 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:39888169G>A ENST00000456183.2 + 4 1185 c.1156G>A c.(1156-1158)Gga>Aga p.G386R NM_001040065.1 NP_001035154.1 SPATA31 subfamily A, member 2 CTGGAACATGGGAGAGAACTC 0.473000 83 34 0 0 0.003610 0 0 ZNF831 128611 broad.mit.edu 37 20 57829779 57829779 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:57829779G>A ENST00000371030.2 + 5 5015 c.5015G>A c.(5014-5016)cGa>cAa p.R1672Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1672 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GATGAAGACCGATTAGTTATA 0.453000 19 28 0 0 0.001882 0 0 SCN11A 11280 broad.mit.edu 37 3 38968362 38968362 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:38968362G>A ENST00000450244.1 - 4 747 c.549C>T c.(547-549)ttC>ttT p.F183F SCN11A_ENST00000444237.2_Silent_p.F183F|SCN11A_ENST00000302328.3_Silent_p.F183F|SCN11A_ENST00000456224.3_Silent_p.F183F Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 183 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATCCAGAATGAAACCTCTTG 0.343000 33 59 0 0 0.001786 0 0 MUC16 94025 broad.mit.edu 37 19 9063144 9063144 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:9063144G>A ENST00000397910.4 - 3 24505 c.24302C>T c.(24301-24303)tCa>tTa p.S8101L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8103 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCAGGAGTTGATGTGGAGAC 0.483000 32 55 0 0 0.001786 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480495 140480495 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140480495G>A ENST00000231130.2 + 1 262 c.262G>A c.(262-264)Gag>Aag p.E88K AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 88 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCTGAATGAGAAATTGGA 0.488000 39 57 0 0 0.006999 0 0 MUC5B 727897 broad.mit.edu 37 11 1258233 1258233 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:1258233G>A ENST00000447027.1 + 25 3203 c.3145G>A c.(3145-3147)Ggg>Agg p.G1049R MUC5B_ENST00000529681.1_Missense_Mutation_p.G1046R Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1046 VWFD 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCGTGGTGGGGGACGCACT 0.657000 9 8 0 0 0.004482 0 0 INA 9118 broad.mit.edu 37 10 105048212 105048212 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:105048212C>T ENST00000369849.4 + 3 1335 c.1286C>T c.(1285-1287)cCt>cTt p.P429L NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 429 Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CTGCTCCCACCTAGAATCCTC 0.498000 47 11 0 0 0.003610 0 0 ASH1L 55870 broad.mit.edu 37 1 155450034 155450034 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155450034G>A ENST00000368346.3 - 3 3266 c.2627C>T c.(2626-2628)tCc>tTc p.S876F ASH1L_ENST00000392403.3_Missense_Mutation_p.S876F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 876 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTGTTTGAAGGAAGGGATTTC 0.418000 57 143 0 0 0.003610 0 0 TCEB3C 162699 broad.mit.edu 37 18 44554577 44554577 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:44554577C>T ENST00000330682.2 - 1 1872 c.1637G>A c.(1636-1638)cGa>cAa p.R546Q KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CTGAGTTTATCGTCGGGAGAA 0.567000 26 296 0 0 0.002445 0 0 OBSCN 84033 broad.mit.edu 37 1 228494759 228494759 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:228494759G>A ENST00000570156.2 + 56 15029 c.14955G>A c.(14953-14955)caG>caA p.Q4985Q OBSCN_ENST00000366707.4_Silent_p.Q1662Q|OBSCN_ENST00000422127.1_Silent_p.Q4028Q|OBSCN_ENST00000366709.4_Silent_p.Q1147Q|OBSCN_ENST00000284548.11_Silent_p.Q4028Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4028 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGATGGTGCAGGATGGTGCAG 0.642000 15 32 0 0 0.003163 0 0 FOXG1 2290 broad.mit.edu 37 14 29237290 29237290 + Missense_Mutation SNP A A C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:29237290A>C ENST00000382535.3 + 2 1174 c.805A>C c.(805-807)Acc>Ccc p.T269P FOXG1_ENST00000313071.4_Missense_Mutation_p.T269P P55316 FOXG1_HUMAN forkhead box G1 269 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CATCGGCGGCACCACGGGCAA 0.682000 13 22 0 0 0.002450 0 0 DNAH10 196385 broad.mit.edu 37 12 124333344 124333344 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:124333344G>A ENST00000409039.3 + 33 5688 c.5663G>A c.(5662-5664)cGa>cAa p.R1888Q NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1888 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1888Q(1)|p.R480Q(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAGTTTAATCGAATCGATGCT 0.517000 10 17 0 0 0.008291 0 0 GRIA3 2892 broad.mit.edu 37 X 122551445 122551445 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:122551445G>A ENST00000264357.5 + 11 1985 c.1693G>A c.(1693-1695)Gga>Aga p.G565R GRIA3_ENST00000371251.1_Missense_Mutation_p.G565R|GRIA3_ENST00000541091.1_Missense_Mutation_p.G549R|GRIA3_ENST00000542149.1_Missense_Mutation_p.G565R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G565R NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 565 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TGCTTACATTGGAGTCAGCGT 0.438000 119 150 0 0 0.003610 0 0 PDE1A 5136 broad.mit.edu 37 2 183104853 183104853 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:183104853C>T ENST00000435564.1 - 3 582 c.382G>A c.(382-384)Gga>Aga p.G128R PDE1A_ENST00000410103.1_Missense_Mutation_p.G128R|PDE1A_ENST00000409365.1_Missense_Mutation_p.G112R|PDE1A_ENST00000536095.1_Missense_Mutation_p.G24R|PDE1A_ENST00000358139.2_Missense_Mutation_p.G128R|PDE1A_ENST00000351439.5_Missense_Mutation_p.G112R|PDE1A_ENST00000456212.1_Missense_Mutation_p.G128R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000331935.6_Missense_Mutation_p.G128R|PDE1A_ENST00000346717.4_Missense_Mutation_p.G94R NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 128 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACAAAAATTCCAGCTTGAACA 0.393000 32 39 0 0 0.003271 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829910 106829910 + RNA SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:106829910A>G ENST00000390616.2 - 0 98 GAACAGAGAAACCCACAGTGA 0.572000 18 12 0 0 0.006122 0 0 OR51F2 119694 broad.mit.edu 37 11 4843571 4843571 + Missense_Mutation SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:4843571A>G ENST00000322110.5 + 1 1021 c.956A>G c.(955-957)aAg>aGg p.K319R MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCATTATCAAGGTCTTAATT 0.368000 41 60 0 0 0.002522 0 0 COL9A2 1298 broad.mit.edu 37 1 40771413 40771413 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:40771413C>T ENST00000372748.3 - 21 1177 c.1081G>A c.(1081-1083)Gga>Aga p.G361R NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 361 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCAGAGAATCCAGGAAGGCCC 0.612000 17 34 0 0 0.004990 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256358 140256358 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140256358C>T ENST00000398631.2 + 1 1301 c.1301C>T c.(1300-1302)tCg>tTg p.S434L PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.627000 74 96 0 0 0.003610 0 0 LRFN1 57622 broad.mit.edu 37 19 39804582 39804582 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:39804582G>A ENST00000248668.4 - 1 1394 c.1395C>T c.(1393-1395)tcC>tcT p.S465S NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 465 Fibronectin type-III. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGTAGACGAGGGAGTCATCAA 0.632000 9 80 0 0 0.006214 0 0 PTEN 5728 broad.mit.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G T rs121913292 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:89692905G>T ENST00000371953.3 + 5 1746 c.389G>T c.(388-390)cGa>cTa p.R130L 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.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(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) GGAAAGGGACGAACTGGTGTA 0.403000 R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM) 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) 31 15 3.99451e-17 4.45263e-17 0.001786 1 0 ADH4 127 broad.mit.edu 37 4 100057678 100057678 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:100057678C>T ENST00000508393.1 - 6 743 c.578G>A c.(577-579)aGa>aAa p.R193K ADH4_ENST00000423445.1_Missense_Mutation_p.R193K|ADH4_ENST00000265512.7_Missense_Mutation_p.R174K|ADH4_ENST00000505590.1_Missense_Mutation_p.R193K|RP11-696N14.1_ENST00000500358.2_RNA P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 174 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) CAGACAAACTCTCTCTAAATT 0.388000 24 41 0 0 0.004656 0 0 LAT2 7462 broad.mit.edu 37 7 73634332 73634332 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:73634332C>T ENST00000460943.1 + 6 1110 c.221C>T c.(220-222)cCc>cTc p.P74L LAT2_ENST00000344995.5_Missense_Mutation_p.P74L|LAT2_ENST00000275635.7_Missense_Mutation_p.P74L|LAT2_ENST00000398475.1_Missense_Mutation_p.P74L NM_032464.2 NP_115853.2 Q9GZY6 NTAL_HUMAN linker for activation of T cells family, member 2 74 B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 GACATGGCACCCACAAGGTAG 0.637000 18 27 0 0 0.007413 0 0 CARD10 29775 broad.mit.edu 37 22 37892455 37892455 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:37892455C>T ENST00000403299.1 - 14 2276 c.e14+1 CARD10_ENST00000251973.5_Splice_Site|CARD10_ENST00000406271.3_Splice_Site Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GCCAGACTTACCCTTCGAGTC 0.647000 21 33 0 0 0.003954 0 0 POU6F2 11281 broad.mit.edu 37 7 39491250 39491250 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:39491250C>T ENST00000518318.2 + 8 1394 c.1352C>T c.(1351-1353)tCc>tTc p.S451F POU6F2_ENST00000559001.1_Missense_Mutation_p.S396F|POU6F2_ENST00000403058.1_Missense_Mutation_p.S451F P78424 PO6F2_HUMAN POU class 6 homeobox 2 451 Ser-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 tcctcttcttcctcctcatcc 0.547000 6 10 0 0 0.001984 0 0 GRM1 2911 broad.mit.edu 37 6 146480485 146480485 + Splice_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:146480485G>A ENST00000392299.2 + 3 1172 c.700_splice c.e3-1 p.G234_splice GRM1_ENST00000507907.1_Splice_Site_p.G234_splice|GRM1_ENST00000361719.2_Splice_Site_p.G234_splice|GRM1_ENST00000492807.2_Splice_Site_p.G234_splice|GRM1_ENST00000355289.4_Splice_Site_p.G234_splice|GRM1_ENST00000282753.1_Splice_Site_p.G234_splice Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 234 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCTGGACAGGGAATTATGGGG 0.473000 39 17 0 0 0.002522 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931860 109931860 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:109931860C>T ENST00000218054.4 - 9 1143 c.947G>A c.(946-948)gGa>gAa p.G316E CHRDL1_ENST00000372045.1_Missense_Mutation_p.G310E|CHRDL1_ENST00000482160.1_Missense_Mutation_p.G237E|CHRDL1_ENST00000372042.1_Missense_Mutation_p.G317E|CHRDL1_ENST00000444321.2_Missense_Mutation_p.G316E|CHRDL1_ENST00000394797.4_Missense_Mutation_p.G316E|CHRDL1_ENST00000434224.1_Missense_Mutation_p.G237E NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 310 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GCAGCATTTTCCGTCTATTTT 0.443000 56 81 0 0 0.003610 0 0 CD2 914 broad.mit.edu 37 1 117311171 117311171 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:117311171G>A ENST00000369478.3 + 5 930 c.822G>A c.(820-822)caG>caA p.Q274Q NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 274 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CAACCCCTCAGAATCCAGCAA 0.567000 12 18 0 0 0.000978 0 0 SGOL2 151246 broad.mit.edu 37 2 201438006 201438006 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:201438006C>T ENST00000357799.4 + 7 3035 c.2937C>T c.(2935-2937)tcC>tcT p.S979S NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 979 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTTTAGATTCCTACAAAGTAG 0.294000 21 32 0 0 0.001523 0 0 SMG1 23049 broad.mit.edu 37 16 18908210 18908210 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:18908210G>A ENST00000446231.2 - 2 573 c.161C>T c.(160-162)tCc>tTc p.S54F SMG1_ENST00000389467.3_Missense_Mutation_p.S54F|SMG1_ENST00000565224.1_Missense_Mutation_p.S28F Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 54 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TCCATAAGAGGAAGAACCACC 0.403000 10 11 0 0 0.000978 0 0 RFX6 222546 broad.mit.edu 37 6 117250008 117250008 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:117250008C>T ENST00000332958.2 + 18 2501 c.2485C>T c.(2485-2487)Cgt>Tgt p.R829C NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 829 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CAGCAGCATTCGTTCACTGCC 0.448000 35 48 0 0 0.002445 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432890 111432890 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:111432890C>T ENST00000393934.3 + 3 1351 c.781C>T c.(781-783)Cat>Tat p.H261Y PLCXD2_ENST00000472215.1_3'UTR|PLCXD2_ENST00000477665.1_Missense_Mutation_p.H261Y NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 261 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 GGGCTCCTTCCATGTCTCCCA 0.557000 18 28 0 0 0.008871 0 0 RNF112 7732 broad.mit.edu 37 17 19319073 19319073 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:19319073G>A ENST00000461366.1 + 14 1696 c.1481G>A c.(1480-1482)cGg>cAg p.R494Q NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 494 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GACACCATGCGGAACCTCCTC 0.597000 17 27 0 0 0.004990 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18776907 18776907 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:18776907G>A ENST00000380548.4 + 19 3019 c.2680G>A c.(2680-2682)Gcg>Acg p.A894T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 894 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CCCCAAGACGGCGGTGGTGCT 0.682000 14 0 0 0 0.002450 0 0 AMOT 154796 broad.mit.edu 37 X 112022752 112022752 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:112022752G>A ENST00000371959.3 - 10 2629 c.2630C>T c.(2629-2631)gCt>gTt p.A877V AMOT_ENST00000371962.1_Missense_Mutation_p.A645V|AMOT_ENST00000524145.1_Missense_Mutation_p.A877V|AMOT_ENST00000304758.1_Missense_Mutation_p.A468V NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 877 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gggagcaacagctgcagTTTT 0.602000 22 20 0 0 0.001882 0 0 TTLL10 254173 broad.mit.edu 37 1 1120496 1120496 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:1120496C>T ENST00000379288.3 + 9 1366 c.1189C>T c.(1189-1191)Cca>Tca p.P397S TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379290.1_Intron NM_153254.2 NP_694986.2 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 0 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAAGGTGCGTCCACTGTGCCC 0.652000 14 21 0 0 0.001855 0 0 WDR45B 56270 broad.mit.edu 37 17 80579641 80579641 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:80579641G>A ENST00000392325.4 - 6 656 c.462C>T c.(460-462)tcC>tcT p.S154S WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B AGGCCAGGAGGGAGTTGTTAC 0.572000 5 17 0 0 0.001984 0 0 FAM47C 442444 broad.mit.edu 37 X 37027258 37027258 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:37027258C>T ENST00000358047.3 + 1 827 c.775C>T c.(775-777)Cac>Tac p.H259Y NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 259 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GTCCAGTCTCCACCTGGAGCC 0.617000 47 38 0 0 0.003610 0 0 CYP2F1 1572 broad.mit.edu 37 19 41626256 41626256 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:41626256C>T ENST00000331105.2 + 4 411 c.339C>T c.(337-339)atC>atT p.I113I NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 113 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CCCCAGGCATCGCCTTCTCCA 0.552000 117 40 0 0 0.003610 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672809 141672809 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:141672809C>T ENST00000547270.1 - 1 764 c.681G>A c.(679-681)atG>atA p.M227I NM_176817.4 NP_789787.4 P59533 T2R38_HUMAN taste receptor, type 2, member 38 227 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) TATAGACCTTCATTGTCCTCA 0.483000 39 4 0 0 0.008740 0 0 TTN 7273 broad.mit.edu 37 2 179458480 179458480 + Missense_Mutation SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:179458480A>T ENST00000589042.1 - 298 58771 c.58547T>A c.(58546-58548)aTt>aAt p.I19516N TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17875N|TTN_ENST00000342175.6_Missense_Mutation_p.I10643N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I10451N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I16948N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I10576N|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17875 Fibronectin type-III 41. 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) CTTCTCAATAATATAATTGGT 0.393000 26 32 0 0 0.007291 0 0 DSCAM 1826 broad.mit.edu 37 21 41450636 41450636 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:41450636G>A ENST00000400454.1 - 26 5166 c.4689C>T c.(4687-4689)ttC>ttT p.F1563F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1563 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.F1563F(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCAGCGTAGCGAAGTTGGCCT 0.592000 12 22 0 0 0.001855 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764768 77764768 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:77764768G>A ENST00000521891.2 + 10 6059 c.5611G>A c.(5611-5613)Gaa>Aaa p.E1871K ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1845K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1826K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1826K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1826 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCAAAGCAGGAATTTATAAG 0.433000 HNSCC(33;0.089) 7 5 0 0 0.000978 0 0 TBCEL 219899 broad.mit.edu 37 11 120916475 120916475 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:120916475C>T ENST00000422003.2 + 2 264 c.76C>T c.(76-78)Cgt>Tgt p.R26C TBCEL_ENST00000529397.1_Missense_Mutation_p.R26C NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 26 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TCCTTATCGCCGTGGCCCGGG 0.423000 17 28 0 0 0.004990 0 0 ZNF536 9745 broad.mit.edu 37 19 30934835 30934835 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:30934835C>T ENST00000355537.3 + 2 513 c.366C>T c.(364-366)gaC>gaT p.D122D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACATCGAGGACGACGCCCGCA 0.637000 11 38 0 0 0.001368 0 0 RASL11A 387496 broad.mit.edu 37 13 27847287 27847287 + Nonsense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:27847287C>T ENST00000241463.4 + 4 1003 c.385C>T c.(385-387)Cag>Tag p.Q129* RASL11A_ENST00000480803.1_3'UTR NM_206827.1 NP_996563.1 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 129 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 10 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) ACCCCTTTATCAGCACATCCG 0.562000 32 44 0 0 0.002445 0 0 LPA 4018 broad.mit.edu 37 6 160998268 160998268 + Nonsense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:160998268G>A ENST00000447678.1 - 29 4651 c.4531C>T c.(4531-4533)Cga>Tga p.R1511* LPA_ENST00000316300.5_Nonsense_Mutation_p.R1511* NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4019 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GATATGCCTCGATAACTCCGT 0.453000 52 13 0 0 0.003610 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 37 0 0 0.000248 0 0 TXLNB 167838 broad.mit.edu 37 6 139564297 139564297 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:139564297G>A ENST00000358430.3 - 10 1653 c.1421C>T c.(1420-1422)tCc>tTc p.S474F RP1-225E12.3_ENST00000585874.1_RNA NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 474 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) CTCTTCATCGGAGTTGTGCTG 0.463000 47 12 0 0 0.003610 0 0 GON4L 54856 broad.mit.edu 37 1 155730261 155730261 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155730261G>A ENST00000437809.1 - 24 5205 c.5083C>T c.(5083-5085)Cct>Tct p.P1695S GON4L_ENST00000368331.1_Missense_Mutation_p.P1695S|GON4L_ENST00000271883.5_Missense_Mutation_p.P1695S Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1695 PAH 1. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GCTTGCTCAGGTAACAGGAAA 0.483000 21 66 0 0 0.002299 0 0 CTCFL 140690 broad.mit.edu 37 20 56094368 56094368 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:56094368G>A ENST00000426658.2 - 3 1481 c.820C>T c.(820-822)Cgt>Tgt p.R274C CTCFL_ENST00000539382.1_Missense_Mutation_p.R69C|CTCFL_ENST00000502686.2_Missense_Mutation_p.R12C|CTCFL_ENST00000433949.2_Missense_Mutation_p.R274C|CTCFL_ENST00000422109.2_Missense_Mutation_p.R274C|CTCFL_ENST00000429804.2_Missense_Mutation_p.R274C|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R274C|CTCFL_ENST00000423479.2_Missense_Mutation_p.R274C|CTCFL_ENST00000371196.2_Missense_Mutation_p.R274C|CTCFL_ENST00000422869.2_Missense_Mutation_p.R274C|CTCFL_ENST00000432255.2_Missense_Mutation_p.R274C Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 274 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTCATATGACGATTAAAACTT 0.443000 28 60 0 0 0.006320 0 0 UROC1 131669 broad.mit.edu 37 3 126220660 126220660 + Missense_Mutation SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:126220660A>G ENST00000383579.3 - 10 1067 c.1034T>C c.(1033-1035)tTc>tCc p.F345S UROC1_ENST00000290868.2_Intron NM_001165974.1 NP_001159446.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 0 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) TGGCCTGGAGAAGCCCGAGGG 0.587000 26 48 0 0 0.008361 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 10 0 0 0.004672 0 0 COG7 91949 broad.mit.edu 37 16 23424809 23424809 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:23424809G>A ENST00000307149.5 - 10 1554 c.1369C>T c.(1369-1371)Ctc>Ttc p.L457F NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 457 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TCCTGGAAGAGGGAGTTGGGA 0.468000 43 50 0 0 0.002852 0 0 CARD10 29775 broad.mit.edu 37 22 37912264 37912264 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:37912264C>T ENST00000403299.1 - 4 631 c.415G>A c.(415-417)Gag>Aag p.E139K CARD10_ENST00000251973.5_Missense_Mutation_p.E139K Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 139 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CGTCGCACCTCTGTCATCAAG 0.632000 6 12 0 0 0.001984 0 0 C3orf67 200844 broad.mit.edu 37 3 58855130 58855130 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:58855130G>A ENST00000472469.1 - 8 1162 c.324C>T c.(322-324)gcC>gcT p.A108A RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Silent_p.A188A|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Silent_p.A188A Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 188 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GTATCAGCAAGGCTGACATTT 0.388000 29 27 0 0 0.007291 0 0 GRPR 2925 broad.mit.edu 37 X 16170679 16170679 + Missense_Mutation SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:16170679A>G ENST00000380289.2 + 3 1464 c.1066A>G c.(1066-1068)Acc>Gcc p.T356A NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 356 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) AAGGAGTACAACCTGCATGAC 0.527000 157 100 0 0 0.003610 0 0 ANKFN1 162282 broad.mit.edu 37 17 54517700 54517700 + Missense_Mutation SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:54517700T>C ENST00000566473.2 + 8 932 c.932T>C c.(931-933)aTg>aCg p.M311T ANKFN1_ENST00000318698.2_Missense_Mutation_p.M311T Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 311 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GAATGGAGTATGTCCGAAGAC 0.448000 46 53 0 0 0.003610 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227279642 227279642 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:227279642C>T ENST00000366769.3 - 16 3591 c.2300G>A c.(2299-2301)cGa>cAa p.R767Q CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R686Q|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R767Q|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R767Q NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 767 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CACTTTTTCTCGTTCATATTG 0.323000 19 16 0 0 0.002780 0 0 MFSD4 148808 broad.mit.edu 37 1 205554093 205554093 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:205554093G>A ENST00000367147.4 + 5 1042 c.949G>A c.(949-951)Gta>Ata p.V317I MFSD4_ENST00000539267.1_Missense_Mutation_p.V317I|MFSD4_ENST00000536357.1_Missense_Mutation_p.V230I NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 317 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GGGCGCCCTGGTACTGTTCAT 0.607000 OREG0014158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 50 0 0 0.003610 0 0 NOVA1 4857 broad.mit.edu 37 14 26918122 26918122 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:26918122C>T ENST00000539517.2 - 5 884 c.567G>A c.(565-567)aaG>aaA p.K189K NOVA1_ENST00000465357.2_Silent_p.K165K|NOVA1_ENST00000267422.7_Silent_p.K67K NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 192 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TAGCACCTCCCTTCCCTATTA 0.423000 38 59 0 0 0.002522 0 0 ATF2 1386 broad.mit.edu 37 2 175962221 175962221 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:175962221G>A ENST00000264110.2 - 11 1227 c.929C>T c.(928-930)tCt>tTt p.S310F ATF2_ENST00000392543.2_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000409635.1_Missense_Mutation_p.S252F|ATF2_ENST00000538946.1_Missense_Mutation_p.S292F|ATF2_ENST00000392544.1_Missense_Mutation_p.S310F|ATF2_ENST00000345739.5_Missense_Mutation_p.S252F|ATF2_ENST00000426833.3_Missense_Mutation_p.S292F|ATF2_ENST00000409437.1_Missense_Mutation_p.S194F NM_001256090.1|NM_001256091.1|NM_001880.3 NP_001243019.1|NP_001243020.1|NP_001871.2 P15336 ATF2_HUMAN activating transcription factor 2 310 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) CTGCGGTCGAGATTCCTCTGA 0.433000 33 45 0 0 0.005524 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325507 37325507 + Nonsense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:37325507G>A ENST00000262825.5 + 5 672 c.455G>A c.(454-456)tGg>tAg p.W152* CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.W152*|CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.W152*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.W93* NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 152 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CTGCTGACCTGGAGTGTGGCC 0.617000 51 51 0 0 0.003610 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905792 132905792 + Missense_Mutation SNP G G C rs143919579 by1000genomes TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:132905792G>C ENST00000409867.1 - 6 938 c.689C>G c.(688-690)tCt>tGt p.S230C ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like p.S230C(2) endometrium(1)|kidney(3) 4 TGTTCCTTCAGATGTTCCTTC 0.443000 3 17 0 0 0.000602 0 0 GABRE 2564 broad.mit.edu 37 X 151123444 151123444 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:151123444C>T ENST00000370328.3 - 9 1303 c.1250G>A c.(1249-1251)gGa>gAa p.G417E GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR NM_004961.3 NP_004952.2 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 417 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GCGCTCCTCTCCATCACTTCC 0.647000 8 9 0 0 0.003080 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857021 9857021 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:9857021G>A ENST00000396573.2 - 14 4689 c.4380C>T c.(4378-4380)atC>atT p.I1460I GRIN2A_ENST00000396575.2_Silent_p.I1460I|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Silent_p.I1460I|GRIN2A_ENST00000535259.1_3'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1460 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CATCAGATTCGATACTAGGCA 0.363000 9 24 0 0 0.004482 0 0 BRDT 676 broad.mit.edu 37 1 92446853 92446853 + Silent SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:92446853A>G ENST00000370389.2 + 11 2484 c.1560A>G c.(1558-1560)gaA>gaG p.E520E BRDT_ENST00000362005.3_Silent_p.E593E|BRDT_ENST00000394530.3_Silent_p.E547E|BRDT_ENST00000399546.2_Silent_p.E593E|BRDT_ENST00000402388.1_Silent_p.E593E NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 593 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) CCAAAGAAGAACTTCACTCAC 0.328000 21 29 0 0 0.001882 0 0 MUC3A 4584 broad.mit.edu 37 7 100549481 100549481 + Splice_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:100549481G>A ENST00000379458.4 + 2 62 c.61_splice c.e2-1 p.*21_splice MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GCCAATGCAGGAACTTTATCC 0.522000 31 61 0 0 0.002096 0 0 MXRA5 25878 broad.mit.edu 37 X 3238986 3238986 + Silent SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:3238986T>C ENST00000217939.6 - 5 4894 c.4740A>G c.(4738-4740)gtA>gtG p.V1580V NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1580 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TACTACCAAATACTTGCTTTT 0.468000 62 151 0 0 0.003610 0 0 SMARCA5 8467 broad.mit.edu 37 4 144457813 144457813 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:144457813C>T ENST00000283131.3 + 11 1939 c.1477C>T c.(1477-1479)Cct>Tct p.P493S NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 493 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) CAAGCTGCTCCCTAAGTTAAA 0.378000 9 12 0 0 0.008291 0 0 GRM8 2918 broad.mit.edu 37 7 126544728 126544728 + Missense_Mutation SNP C C A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:126544728C>A ENST00000339582.2 - 4 1545 c.737G>T c.(736-738)tGc>tTc p.C246F GRM8_ENST00000405249.1_Missense_Mutation_p.C246F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.C246F|GRM8_ENST00000358373.3_Missense_Mutation_p.C246F O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 246 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CTGAGCAATGCAAACACCACC 0.373000 HNSCC(24;0.065) 22 43 1.36565e-18 1.52842e-18 0.002780 1 0 C1QTNF5 114902 broad.mit.edu 37 11 119214576 119214576 + Translation_Start_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:119214576G>A ENST00000445041.2 - 0 1233 MFRP_ENST00000555262.1_Silent_p.Y358Y|MFRP_ENST00000449574.2_Silent_p.Y358Y|MFRP_ENST00000360167.4_Intron|MFRP_ENST00000530681.1_Silent_p.Y358Y NM_001278431.1|NM_015645.3|NM_031433.2 NP_001265360.1|NP_056460.1|NP_113621.1 Q9BY79 MFRP_HUMAN C1q and tumor necrosis factor related protein 5 embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) ACACCTCCACGTAGTCAAACT 0.572000 45 51 0 0 0.003610 0 0 OR6C74 254783 broad.mit.edu 37 12 55641806 55641806 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:55641806C>T ENST00000343870.4 + 1 825 c.735C>T c.(733-735)gtC>gtT p.V245V NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 ACATGGTGGTCGTGTCCATTT 0.388000 34 46 0 0 0.006999 0 0 GDF5 8200 broad.mit.edu 37 20 34022048 34022048 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:34022048C>T ENST00000374372.1 - 4 1668 c.1165G>A c.(1165-1167)Ggc>Agc p.G389S GDF5OS_ENST00000374375.1_Missense_Mutation_p.P31L|GDF5_ENST00000374369.3_Missense_Mutation_p.G389S P43026 GDF5_HUMAN growth differentiation factor 5 389 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGTCGCTTGCCCTGGCGAGTG 0.592000 69 83 0 0 0.003610 0 0 LGALS9 3965 broad.mit.edu 37 17 25970616 25970616 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:25970616C>T ENST00000395473.2 + 5 1978 c.510C>T c.(508-510)ttC>ttT p.F170F LGALS9_ENST00000310394.5_Intron|LGALS9_ENST00000302228.5_Intron|LGALS9_ENST00000413914.2_Silent_p.F113F|LGALS9_ENST00000313648.6_Intron NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 170 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CTGTCTGTTTCCCACCCAGGC 0.607000 12 23 0 0 0.006122 0 0 LRRC42 115353 broad.mit.edu 37 1 54418140 54418140 + Silent SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:54418140A>G ENST00000371370.3 + 3 989 c.468A>G c.(466-468)cgA>cgG p.R156R LRRC42_ENST00000319223.4_Silent_p.R156R NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 156 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 TGTGTTTGCGAAACAGGTGGG 0.478000 15 30 0 0 0.003163 0 0 CNGA2 1260 broad.mit.edu 37 X 150912755 150912755 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:150912755G>A ENST00000329903.4 + 6 1813 c.1780G>A c.(1780-1782)Gag>Aag p.E594K NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 594 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) AACCAGCATGGAGGTCGACGT 0.577000 54 100 0 0 0.003610 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420705 55420705 + Missense_Mutation SNP G G T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:55420705G>T ENST00000242994.3 + 2 860 c.482G>T c.(481-483)gGg>gTg p.G161V NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 161 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CTGTGTAAAGGGCTCTCTCAG 0.517000 31 31 1.13719e-10 1.26001e-10 0.008361 1 0 COL18A1 80781 broad.mit.edu 37 21 46888517 46888517 + Silent SNP C C G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:46888517C>G ENST00000359759.4 + 2 1734 c.1713C>G c.(1711-1713)ccC>ccG p.P571P COL18A1_ENST00000400337.2_Silent_p.P156P|COL18A1_ENST00000355480.5_Silent_p.P336P P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 571 TSP N-terminal. cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TCCGGCTCCCCGCCTTCGTCG 0.627000 36 58 0 0 0.004289 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485997 169485997 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:169485997G>A ENST00000330368.2 - 2 716 c.342C>T c.(340-342)aaC>aaT p.N114N NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 114 cytoplasm|cytoskeleton TCTGTTGCCGGTTGGCCAGTG 0.498000 20 5 0 0 0.008871 0 0 EFNA4 1945 broad.mit.edu 37 1 155039320 155039320 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155039320C>T ENST00000368409.3 + 2 321 c.228C>T c.(226-228)taC>taT p.Y76Y EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Silent_p.Y76Y|EFNA4_ENST00000427683.2_Silent_p.Y76Y NM_005227.2 NP_005218.1 ephrin-A4 breast(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TTGCTTTGTACATGGTGGACT 0.627000 32 25 0 0 0.002836 0 0 TNRC6B 23112 broad.mit.edu 37 22 40521847 40521847 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:40521847C>T ENST00000301923.9 + 3 328 c.26C>T c.(25-27)tCg>tTg p.S9L TNRC6B_ENST00000402203.1_Missense_Mutation_p.S9L NM_001024843.1 NP_001020014.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 0 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GGAGAAGTATCGGAAGAAAGC 0.378000 8 14 0 0 0.006214 0 0 FAT2 2196 broad.mit.edu 37 5 150947900 150947900 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:150947900G>A ENST00000261800.5 - 1 605 c.593C>T c.(592-594)cCc>cTc p.P198L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 198 Cadherin 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCGCTGGTGGGATGGATGGC 0.532000 34 50 0 0 0.003271 0 0 FAM163A 148753 broad.mit.edu 37 1 179783102 179783102 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:179783102C>T ENST00000341785.4 + 5 678 c.282C>T c.(280-282)caC>caT p.H94H NM_173509.2 NP_775780.1 Q96GL9 F163A_HUMAN family with sequence similarity 163, member A 94 integral to membrane endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1) 15 CCGCGAGCCACTGCACTACCT 0.657000 38 26 0 0 0.003610 0 0 DEDD 9191 broad.mit.edu 37 1 161092181 161092181 + Missense_Mutation SNP G G T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:161092181G>T ENST00000392188.1 - 6 1037 c.803C>A c.(802-804)tCc>tAc p.S268Y DEDD_ENST00000545495.1_Missense_Mutation_p.S238Y|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.S238Y|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.S238Y|DEDD_ENST00000368005.1_Missense_Mutation_p.S268Y O75618 DEDD_HUMAN death effector domain containing 238 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CAGGTCCCGGGACTTGAGGAT 0.522000 52 55 4.45325e-31 5.01444e-31 0.003610 1 0 VANGL2 57216 broad.mit.edu 37 1 160389254 160389254 + Missense_Mutation SNP G G C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:160389254G>C ENST00000368061.2 + 4 1129 c.655G>C c.(655-657)Gcc>Ccc p.A219P NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 219 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTGCAGTTCGCCGTGTCGCT 0.622000 78 51 0 0 0.003610 0 0 BMP7 655 broad.mit.edu 37 20 55777679 55777679 + Splice_Site SNP C C T rs142693632 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:55777679C>T ENST00000395863.3 - 3 1117 c.611_splice c.e3-1 p.R204_splice BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Splice_Site_p.R204_splice|BMP7_ENST00000395864.3_Splice_Site_p.R204_splice NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 204 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) GATCCGATTCCCTGCGAGAGA 0.622000 20 27 0 0 0.008871 0 0 TRAV21 28662 broad.mit.edu 37 14 22521111 22521111 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22521111C>T ENST00000390449.3 + 0 139 ACTGCAGTTTCACTGATAGCG 0.478000 25 38 0 0 0.003954 0 0 GPR141 353345 broad.mit.edu 37 7 37780780 37780780 + Missense_Mutation SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:37780780T>C ENST00000447769.1 + 4 1074 c.785T>C c.(784-786)gTt>gCt p.V262A GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.V262A|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 262 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AACAGCAAGGTTGCATTTTAT 0.378000 42 51 0 0 0.008740 0 0 UBXN10 127733 broad.mit.edu 37 1 20517684 20517684 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:20517684G>A ENST00000375099.3 + 2 714 c.630G>A c.(628-630)agG>agA p.R210R NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 210 UBX. endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CAGGCCAAAGGTTTGTACGCC 0.488000 35 49 0 0 0.006230 0 0 SHKBP1 92799 broad.mit.edu 37 19 41086326 41086326 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:41086326C>T ENST00000291842.5 + 7 546 c.497C>T c.(496-498)cCc>cTc p.P166L SHKBP1_ENST00000600733.1_Missense_Mutation_p.P166L NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 166 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACGATGCCCCCCAACCTTGGC 0.627000 12 45 0 0 0.000978 0 0 CNR2 1269 broad.mit.edu 37 1 24202038 24202038 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:24202038C>T ENST00000536471.1 - 3 328 c.70G>A c.(70-72)Gat>Aat p.D24N CNR2_ENST00000374472.4_Missense_Mutation_p.D24N P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 24 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) ATCATGTAATCCTTCATAGGG 0.537000 60 73 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179615521 179615521 + Missense_Mutation SNP T T G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:179615521T>G ENST00000360870.5 - 46 11828 c.11606A>C c.(11605-11607)gAa>gCa p.E3869A TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9698 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) AGACACATTTTCAGGAGTCTC 0.368000 26 30 0 0 0.003954 0 0 ZFHX3 463 broad.mit.edu 37 16 72992789 72992789 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:72992789G>A ENST00000268489.5 - 2 1928 c.1256C>T c.(1255-1257)cCc>cTc p.P419L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 419 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGGCCCCAGGGGGACTGAGGT 0.637000 54 82 0 0 0.003610 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926339 106926339 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:106926339G>A ENST00000434710.1 - 0 282 ACTAATAAGAGAGACCCACTC 0.517000 42 48 0 0 0.006999 0 0 FGD5 152273 broad.mit.edu 37 3 14905670 14905670 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:14905670C>T ENST00000285046.5 + 2 2671 c.2561C>T c.(2560-2562)tCg>tTg p.S854L FGD5_ENST00000543601.1_Missense_Mutation_p.S613L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 854 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGTCCCATCTCGTCGGCAGCC 0.532000 24 48 0 0 0.002299 0 0 TIE1 7075 broad.mit.edu 37 1 43786956 43786956 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:43786956C>T ENST00000372476.3 + 20 3203 c.3124C>T c.(3124-3126)Ctt>Ttt p.L1042F TIE1_ENST00000433781.2_Missense_Mutation_p.L687F NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 1042 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTTTGGAGTCCTTCTTTGGGA 0.552000 53 76 0 0 0.003610 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519312 113519312 + Missense_Mutation SNP C C T rs76910192 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:113519312C>T ENST00000284601.3 - 4 1903 c.1835G>A c.(1834-1836)gGg>gAg p.G612E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 612 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ACCAGTTATCCCTCCTAAAGC 0.393000 43 63 0 0 0.003214 0 0 CHIA 27159 broad.mit.edu 37 1 111854982 111854982 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:111854982C>T ENST00000369740.1 + 4 329 c.226C>T c.(226-228)Ctc>Ttc p.L76F CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.L76F NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 76 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding p.L76V(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TGATGTGACTCTCTACCAAGC 0.453000 33 43 0 0 0.004878 0 0 SLC16A14 151473 broad.mit.edu 37 2 230924038 230924038 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:230924038C>T ENST00000295190.4 - 2 489 c.31G>A c.(31-33)Gat>Aat p.D11N NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 11 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TCTTCAAAATCATACCCAATA 0.373000 22 30 0 0 0.002299 0 0 MRO 83876 broad.mit.edu 37 18 48335729 48335729 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:48335729G>A ENST00000428869.2 - 4 300 c.42C>T c.(40-42)tcC>tcT p.S14S MRO_ENST00000436348.2_Intron|MRO_ENST00000256425.2_Silent_p.S14S|MRO_ENST00000588444.1_Silent_p.S14S|MRO_ENST00000587291.1_Intron|MRO_ENST00000398439.3_Silent_p.S14S|MRO_ENST00000431965.2_Intron Q9BYG7 MSTRO_HUMAN maestro 14 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) AAGTAGGGATGGAAAGGGGCT 0.428000 15 25 0 0 0.008871 0 0 SCN11A 11280 broad.mit.edu 37 3 38991749 38991749 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:38991749C>T ENST00000450244.1 - 1 303 c.105G>A c.(103-105)aaG>aaA p.K35K SCN11A_ENST00000444237.2_Silent_p.K35K|SCN11A_ENST00000302328.3_Silent_p.K35K|SCN11A_ENST00000456224.3_Silent_p.K35K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 35 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTTTTTCTCCTTTTGGATGG 0.512000 59 75 0 0 0.003610 0 0 MXRA8 54587 broad.mit.edu 37 1 1290450 1290450 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:1290450C>T ENST00000309212.6 - 5 591 c.561G>A c.(559-561)gtG>gtA p.V187V MXRA8_ENST00000342753.4_Silent_p.V86V|MXRA8_ENST00000445648.2_Silent_p.V187V NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 187 Ig-like V-type 2. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCCGCGGTTCACGCAGGTCA 0.766000 7 3 0 0 0.008291 0 0 SLC6A1 6529 broad.mit.edu 37 3 11061952 11061952 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:11061952C>T ENST00000287766.4 + 6 946 c.525C>T c.(523-525)tcC>tcT p.S175S SLC6A1_ENST00000536032.1_5'UTR NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 175 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GCTGCTTCTCCAACTACAGCA 0.592000 9 9 0 0 0.006214 0 0 VWC2L 402117 broad.mit.edu 37 2 215279114 215279114 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:215279114G>A ENST00000312504.5 + 2 999 c.197G>A c.(196-198)cGa>cAa p.R66Q AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.R66Q NM_001080500.2 NP_001073969.1 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain containing protein 2-like 66 VWFC 1. extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1) 16 TTGGGAGAACGATTTTTCCCT 0.458000 16 21 0 0 0.004990 0 0 M1AP 130951 broad.mit.edu 37 2 74842097 74842097 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:74842097G>A ENST00000290536.5 - 3 536 c.420C>T c.(418-420)tcC>tcT p.S140S M1AP_ENST00000536235.1_Silent_p.S140S|M1AP_ENST00000409585.1_Silent_p.S140S|M1AP_ENST00000358434.2_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein TTACCTCCAGGGAGGTATAGG 0.468000 18 25 0 0 0.004990 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991400 52991400 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:52991400G>A ENST00000371544.3 - 2 815 c.553C>T c.(553-555)Cca>Tca p.P185S ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P185S|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P185S NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 185 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AAGGAGCTTGGAATTTTTTTT 0.408000 62 110 0 0 0.003610 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340161 29340161 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:29340161G>A ENST00000269205.5 - 1 682 c.494C>T c.(493-495)aCc>aTc p.T165I SLC25A52_ENST00000579441.2_Missense_Mutation_p.T155I NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 155 transport integral to membrane|mitochondrial inner membrane ATAAGTGTTGGTAAATTTGTC 0.463000 47 56 0 0 0.002852 0 0 RASD2 23551 broad.mit.edu 37 22 35947777 35947777 + Missense_Mutation SNP G G C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:35947777G>C ENST00000216127.4 + 3 1141 c.499G>C c.(499-501)Gcc>Ccc p.A167P NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 167 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGAGAACTGCGCCTACTTCGA 0.627000 12 19 0 0 0.001368 0 0 BAHD1 22893 broad.mit.edu 37 15 40751525 40751525 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:40751525C>T ENST00000561234.1 + 2 1121 c.862C>T c.(862-864)Cct>Tct p.P288S BAHD1_ENST00000416165.1_Missense_Mutation_p.P288S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P288S Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 288 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) ATCTGCAACTCCTTGTGGGCC 0.642000 25 37 0 0 0.005443 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057665 63057665 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:63057665G>A ENST00000332793.6 + 1 30 c.28G>A c.(28-30)Gtt>Att p.V10I SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 10 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTTGAGTCAAGTTGGAGGCCT 0.438000 18 27 0 0 0.006122 0 0 EFNA4 1945 broad.mit.edu 37 1 155039319 155039319 + Missense_Mutation SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155039319A>T ENST00000368409.3 + 2 320 c.227A>T c.(226-228)tAc>tTc p.Y76F EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000359751.4_Missense_Mutation_p.Y76F|EFNA4_ENST00000427683.2_Missense_Mutation_p.Y76F NM_005227.2 NP_005218.1 ephrin-A4 breast(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TTTGCTTTGTACATGGTGGAC 0.627000 32 25 0 0 0.002836 0 0 CCNB2 9133 broad.mit.edu 37 15 59406661 59406661 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:59406661G>A ENST00000288207.2 + 4 477 c.286G>A c.(286-288)Gag>Aag p.E96K CCNB2_ENST00000559622.1_Missense_Mutation_p.E15K NM_004701.3 NP_004692.1 O95067 CCNB2_HUMAN cyclin B2 96 cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus protein kinase binding kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 TCCCACACCTGAGGATGTCTC 0.443000 32 43 0 0 0.005524 0 0 CEP164 22897 broad.mit.edu 37 11 117209316 117209316 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:117209316C>T ENST00000278935.3 + 3 161 c.14C>T c.(13-15)cCc>cTc p.P5L NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 5 Interaction with ATRIP. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCTGGACGACCCCTCCGCATA 0.493000 44 58 0 0 0.003610 0 0 HPD 3242 broad.mit.edu 37 12 122296617 122296617 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:122296617C>T ENST00000289004.4 - 2 41 c.6G>A c.(4-6)acG>acA p.T2T HPD_ENST00000543163.1_5'UTR NM_002150.2 NP_002141.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 2 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) CACTGTAAGTCGTCTAAGGAG 0.522000 22 38 0 0 0.001882 0 0 FBXO38 81545 broad.mit.edu 37 5 147785841 147785841 + Missense_Mutation SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:147785841A>T ENST00000340253.5 + 7 920 c.752A>T c.(751-753)tAt>tTt p.Y251F FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Missense_Mutation_p.Y251F|FBXO38_ENST00000394370.3_Missense_Mutation_p.Y251F|FBXO38_ENST00000513826.1_Missense_Mutation_p.Y251F Q6PIJ6 FBX38_HUMAN F-box protein 38 251 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTTGAAATATGTCCCTTTA 0.358000 29 39 0 0 0.008361 0 0 RASEF 158158 broad.mit.edu 37 9 85607903 85607903 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:85607903C>T ENST00000376447.3 - 15 2218 c.1958G>A c.(1957-1959)gGa>gAa p.G653E NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 653 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 AGCCTTGTTTCCTACCAGCAT 0.483000 39 8 0 0 0.004289 0 0 OR8D2 283160 broad.mit.edu 37 11 124189897 124189897 + Missense_Mutation SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124189897A>G ENST00000357438.2 - 1 287 c.197T>C c.(196-198)tTg>tCg p.L66S NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AATGAAAGACAAATGACTGAG 0.418000 23 30 0 0 0.003954 0 0 ATP11C 286410 broad.mit.edu 37 X 138864759 138864759 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:138864759G>A ENST00000370557.1 - 18 2926 c.1899C>T c.(1897-1899)ttC>ttT p.F633F ATP11C_ENST00000327569.3_Silent_p.F636F|ATP11C_ENST00000370543.1_Silent_p.F636F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Silent_p.F636F|ATP11C_ENST00000359686.2_Silent_p.F636F Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 636 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CAATATCATCGAAAACTTTTT 0.328000 27 33 0 0 0.005443 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679273 37679273 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:37679273C>T ENST00000379800.3 - 1 530 c.121G>A c.(121-123)Gag>Aag p.E41K NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 41 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GCTACGTCCTCGCCGTTGGTG 0.537000 27 44 0 0 0.005443 0 0 NOL4 8715 broad.mit.edu 37 18 31537311 31537311 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:31537311C>T ENST00000261592.5 - 8 1704 c.1407G>A c.(1405-1407)atG>atA p.M469I NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Missense_Mutation_p.M184I|NOL4_ENST00000538587.1_Missense_Mutation_p.M395I|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000535475.1_Intron NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 469 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CACTTCTTTTCATCCGCCTGC 0.423000 26 44 0 0 0.001786 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145770964 145770964 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:145770964G>A ENST00000276826.5 - 5 2391 c.2190C>T c.(2188-2190)ccC>ccT p.P730P ARHGAP39_ENST00000540274.1_Silent_p.P730P|ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000377307.2_Silent_p.P730P Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 730 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TCACGATCATGGGCTTCTTGA 0.617000 44 36 0 0 0.008740 0 0 SOAT2 8435 broad.mit.edu 37 12 53512134 53512134 + Splice_Site SNP G G A rs141651111 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:53512134G>A ENST00000301466.3 + 8 839 c.778_splice c.e8-1 p.G260_splice NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 260 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TCCTCCCCAGGTGAGGGGATC 0.577000 20 28 0 0 0.008871 0 0 TRPV6 55503 broad.mit.edu 37 7 142575028 142575028 + Silent SNP C C T rs145023704 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:142575028C>T ENST00000359396.3 - 4 599 c.354G>A c.(352-354)caG>caA p.Q118Q RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 118 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GCAGTGCAGTCTGACCTGGCC 0.622000 51 6 0 0 0.003610 0 0 HBB 3043 broad.mit.edu 37 11 5247992 5247992 + Missense_Mutation SNP C C T rs41417446 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:5247992C>T ENST00000335295.3 - 2 305 c.130G>A c.(130-132)Gag>Aag p.E44K NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 44 E -> Q (in Hoshida/Chaya). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) CCAAAGGACTCAAAGAACCTC 0.527000 Sickle Cell Trait 28 34 0 0 0.001786 0 0 TRPC4 7223 broad.mit.edu 37 13 38266349 38266349 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:38266349G>A ENST00000379705.3 - 4 1878 c.1021C>T c.(1021-1023)Cct>Tct p.P341S TRPC4_ENST00000379673.2_Missense_Mutation_p.P341S|TRPC4_ENST00000426868.2_Missense_Mutation_p.P341S|TRPC4_ENST00000379681.3_Missense_Mutation_p.P341S|TRPC4_ENST00000338947.5_Missense_Mutation_p.P168S|TRPC4_ENST00000379679.1_Missense_Mutation_p.P168S|TRPC4_ENST00000355779.2_Missense_Mutation_p.P341S|TRPC4_ENST00000447043.1_Missense_Mutation_p.P341S|TRPC4_ENST00000358477.2_Missense_Mutation_p.P341S Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 341 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GAGAAGACAGGAAAAAGAAGT 0.473000 12 21 0 0 0.001368 0 0 SENP3 26168 broad.mit.edu 37 17 7467989 7467989 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:7467989C>T ENST00000321337.7 + 3 1083 c.763C>T c.(763-765)Cca>Tca p.P255S SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.P255S NM_015670.5 NP_056485.2 Q9H4L4 SENP3_HUMAN SUMO1/sentrin/SMT3 specific peptidase 3 255 proteolysis MLL1 complex|nucleolus cysteine-type peptidase activity central_nervous_system(1)|ovary(1) 2 Prostate(122;0.157) ACAATCTGGGCCAGAAGGGGA 0.587000 14 39 0 0 0.002450 0 0 SOX4 6659 broad.mit.edu 37 6 21595096 21595096 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:21595096G>A ENST00000244745.1 + 1 1125 c.331G>A c.(331-333)Gag>Aag p.E111K SOX4_ENST00000543472.1_Missense_Mutation_p.E111K NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 111 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) TTTCATTCGAGAGGCGGAGCG 0.602000 12 5 0 0 0.000978 0 0 PLG 5340 broad.mit.edu 37 6 161152796 161152796 + Silent SNP G G A rs141539231 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:161152796G>A ENST00000308192.9 + 12 1521 c.1458G>A c.(1456-1458)ggG>ggA p.G486G NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 486 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.G486G(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TTGGGAATGGGAAAGGATACC 0.498000 28 8 0 0 0.007291 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433084 140433084 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140433084C>T ENST00000306549.3 + 1 2106 c.2029C>T c.(2029-2031)Cca>Tca p.P677S NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 677 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCCAGGATCCAACCAAGCA 0.448000 59 69 0 0 0.003610 0 0 MARCO 8685 broad.mit.edu 37 2 119727775 119727775 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:119727775C>T ENST00000541757.1 + 4 431 c.51C>T c.(49-51)tcC>tcT p.S17S MARCO_ENST00000327097.4_Silent_p.S95S Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 95 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 CGTCCTTCTCCTTGCTGCAGT 0.627000 38 34 0 0 0.006999 0 0 CAPS2 84698 broad.mit.edu 37 12 75672694 75672694 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:75672694G>A ENST00000393284.3 - 17 1726 c.1125C>T c.(1123-1125)atC>atT p.I375I RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000442339.2_Silent_p.I197I|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409799.1_Intron Q9BXY5 CAYP2_HUMAN calcyphosine 2 0 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GAGTACGTAAGATGTTAACAA 0.333000 22 22 0 0 0.001523 0 0 APOB 338 broad.mit.edu 37 2 21238130 21238130 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:21238130C>T ENST00000233242.1 - 23 3638 c.3511G>A c.(3511-3513)Gaa>Aaa p.E1171K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1171 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.E1171K(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATCTTCTCTTCATCTGAAAAT 0.408000 139 198 0 0 0.003610 0 0 TRAV19 28664 broad.mit.edu 37 14 22476215 22476215 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:22476215G>A ENST00000390447.3 + 0 262 TGAAACCCGTGATACTACTTA 0.428000 17 21 0 0 0.004990 0 0 SLC9C1 285335 broad.mit.edu 37 3 111996575 111996575 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:111996575G>A ENST00000305815.5 - 5 703 c.451C>T c.(451-453)Ccc>Tcc p.P151S SLC9C1_ENST00000487372.1_Missense_Mutation_p.P151S NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 151 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity p.P151T(1) GTTAGCATGGGATCTGAACTC 0.318000 46 35 0 0 0.003610 0 0 CTAGE1 64693 broad.mit.edu 37 18 19997405 19997405 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:19997405C>T ENST00000391403.2 - 1 473 c.370G>A c.(370-372)Gaa>Aaa p.E124K NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 124 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GATTTCTCTTCTTTTAACTCT 0.378000 58 84 0 0 0.003610 0 0 TECTA 7007 broad.mit.edu 37 11 121008491 121008491 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:121008491C>T ENST00000392793.1 + 11 3574 c.3303C>T c.(3301-3303)atC>atT p.I1101I TECTA_ENST00000264037.2_Silent_p.I1101I O75443 TECTA_HUMAN tectorin alpha 1101 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCTCCTGCATCGTCTCAGGCT 0.587000 22 24 0 0 0.001523 0 0 CSPP1 79848 broad.mit.edu 37 8 68049808 68049808 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:68049808C>T ENST00000262210.5 + 15 1961 c.1930C>T c.(1930-1932)Cct>Tct p.P644S CSPP1_ENST00000412460.1_Missense_Mutation_p.P350S NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 679 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGGTGGTGCTCCTCTCAGGGA 0.338000 12 11 0 0 0.001368 0 0 ATG2A 23130 broad.mit.edu 37 11 64676581 64676581 + Nonsense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:64676581C>T ENST00000421419.2 - 16 2360 c.2246G>A c.(2245-2247)tGg>tAg p.W749* ATG2A_ENST00000377264.3_Nonsense_Mutation_p.W749* Q2TAZ0 ATG2A_HUMAN autophagy related 2A 749 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGCCACCTCCCACTGTGTGCT 0.647000 13 32 0 0 0.003163 0 0 ERCC5 2073 broad.mit.edu 37 13 103525627 103525627 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:103525627C>T ENST00000355739.4 + 14 4321 c.2898C>T c.(2896-2898)ttC>ttT p.F966F ERCC5_ENST00000375954.1_Silent_p.F199F NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGCGGTATTTCGGCTGGAACA 0.383000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 44 67 0 0 0.003610 0 0 CES2 8824 broad.mit.edu 37 16 66975424 66975424 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:66975424C>T ENST00000317091.4 + 7 2107 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S CES2_ENST00000417689.1_Missense_Mutation_p.P375S NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 311 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CAAGATGATCCCCGGAGTGGT 0.567000 18 29 0 0 0.001523 0 0 ATF6B 1388 broad.mit.edu 37 6 32085370 32085370 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:32085370G>A ENST00000375201.4 - 13 1562 c.1517C>T c.(1516-1518)tCc>tTc p.S506F ATF6B_ENST00000375203.3_Missense_Mutation_p.S509F Q99941 ATF6B_HUMAN activating transcription factor 6 beta 509 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 ACACCTCAGGGACTCAGTGCG 0.602000 118 96 0 0 0.003610 0 0 SMURF2 64750 broad.mit.edu 37 17 62553786 62553786 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:62553786G>A ENST00000262435.9 - 13 1558 c.1371C>T c.(1369-1371)ttC>ttT p.F457F NM_022739.3 NP_073576.1 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 457 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4) 22 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) TTGAATACTGGAAGAGGCCAT 0.333000 35 50 0 0 0.004878 0 0 NRK 203447 broad.mit.edu 37 X 105178249 105178249 + Splice_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:105178249G>A ENST00000428173.2 + 20 3618 c.e20-1 NRK_ENST00000243300.9_Splice_Site Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACTTCTTTTAGGAGCCAGGTG 0.418000 HNSCC(51;0.14) 34 49 0 0 0.004289 0 0 TRPC5 7224 broad.mit.edu 37 X 111090435 111090435 + Missense_Mutation SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:111090435T>C ENST00000262839.2 - 6 2525 c.1607A>G c.(1606-1608)aAc>aGc p.N536S NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 536 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTAAAGCTGGTTCAGTCCATT 0.448000 54 78 0 0 0.003610 0 0 MYH11 4629 broad.mit.edu 37 16 15931898 15931898 + Missense_Mutation SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:15931898A>T ENST00000338282.6 - 2 318 c.212T>A c.(211-213)gTt>gAt p.V71D MYH11_ENST00000452625.2_Missense_Mutation_p.V71D|MYH11_ENST00000576790.1_Missense_Mutation_p.V71D|MYH11_ENST00000396324.3_Missense_Mutation_p.V71D|MYH11_ENST00000300036.5_Missense_Mutation_p.V71D NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 71 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ATCTTTCCCAACCGTGACCTT 0.572000 T CBFB AML 81 111 0 0 0.003610 0 0 PLK2 10769 broad.mit.edu 37 5 57750791 57750791 + Missense_Mutation SNP A A C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:57750791A>C ENST00000274289.3 - 13 2113 c.1813T>G c.(1813-1815)Tgg>Ggg p.W605G PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 605 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GATTTTAGCCACTGAAGGAGG 0.428000 75 129 0 0 0.003610 0 0 CLCNKA 1187 broad.mit.edu 37 1 16358311 16358311 + Missense_Mutation SNP A A G rs139001368 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:16358311A>G ENST00000375692.1 + 17 1857 c.1729A>G c.(1729-1731)Acc>Gcc p.T577A CLCNKA_ENST00000420078.1_Missense_Mutation_p.T577A|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.T577A|CLCNKA_ENST00000439316.2_Missense_Mutation_p.T534A P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 577 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CACAGACGTGACCGAGTATCC 0.607000 4 62 0 0 0.000248 0 0 BTNL8 79908 broad.mit.edu 37 5 180326349 180326349 + Translation_Start_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:180326349G>A ENST00000400707.3 + 0 228 BTNL8_ENST00000340184.4_Silent_p.K13K|BTNL8_ENST00000231229.4_Silent_p.K13K|BTNL8_ENST00000511704.1_Silent_p.K13K|BTNL8_ENST00000508408.1_Silent_p.K13K NM_001159709.1 NP_001153181.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCTCCTCAAGCTGGGATCAG 0.458000 105 136 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82582113 82582113 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:82582113C>T ENST00000423517.2 - 5 8493 c.8156G>A c.(8155-8157)gGa>gAa p.G2719E PCLO_ENST00000333891.8_Missense_Mutation_p.G2719E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2650 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 TTGCAATTTTCCATCTTCTTT 0.373000 15 14 0 0 0.003163 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104728345 104728345 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:104728345G>A ENST00000372582.1 + 6 1494 c.738G>A c.(736-738)atG>atA p.M246I IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M246I NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 246 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGTTCCCCATGGAGAATCAGC 0.413000 36 53 0 0 0.008740 0 0 TSSC2 650368 broad.mit.edu 37 11 3426099 3426099 + RNA SNP G G C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:3426099G>C ENST00000529482.1 + 0 845 GGGCCTCCGAGGGAGTATTAC 0.597000 5 47 0 0 0.004482 0 0 ABCC8 6833 broad.mit.edu 37 11 17483244 17483244 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:17483244G>A ENST00000302539.4 - 5 833 c.708C>T c.(706-708)ttC>ttT p.F236F ABCC8_ENST00000389817.3_Silent_p.F236F NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 236 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CAGTCTTGATGAAGGCGTTCA 0.602000 243 308 0 0 0.003610 0 0 COL6A6 131873 broad.mit.edu 37 3 130345347 130345347 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:130345347G>A ENST00000358511.6 + 24 4928 c.4897G>A c.(4897-4899)Gga>Aga p.G1633R COL6A6_ENST00000453409.2_Missense_Mutation_p.G1633R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1633 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGGAGATCTGGGAGAAAAAGG 0.413000 32 48 0 0 0.002445 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522294 144522294 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:144522294G>A ENST00000262577.5 - 11 2763 c.2732C>T c.(2731-2733)tCc>tTc p.S911F NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 911 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGAGATGAAGGAAGGCAGCTT 0.667000 26 17 0 0 0.004656 0 0 CLOCK 9575 broad.mit.edu 37 4 56325372 56325372 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:56325372C>T ENST00000309964.4 - 9 866 c.616G>A c.(616-618)Gag>Aag p.E206K CLOCK_ENST00000513440.1_Missense_Mutation_p.E206K|CLOCK_ENST00000381322.1_Missense_Mutation_p.E206K NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 206 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) GTAGATGGCTCCTTTGGGTCT 0.294000 20 26 0 0 0.001882 0 0 SOHLH2 54937 broad.mit.edu 37 13 36788623 36788623 + Missense_Mutation SNP G G A rs12873478 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:36788623G>A ENST00000379881.3 - 1 129 c.41C>T c.(40-42)tCg>tTg p.S14L CCDC169-SOHLH2_ENST00000511166.1_Intron|SOHLH2_ENST00000554962.1_Intron|SOHLH2_ENST00000317764.6_Missense_Mutation_p.S14L NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TACCTGGCCCGAGATCTGGCA 0.672000 9 17 0 0 0.000978 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223937 142223937 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:142223937G>A ENST00000390367.3 - 0 246 AGGCAACTGTGAATCATCTAC 0.517000 36 20 0 0 0.003755 0 0 HHIP 64399 broad.mit.edu 37 4 145636452 145636452 + Splice_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:145636452G>A ENST00000296575.3 + 10 2203 c.1547_splice c.e10-1 p.G516_splice NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 516 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCTGTTGTAGGAATTTCCTAA 0.373000 17 23 0 0 0.006122 0 0 RQCD1 9125 broad.mit.edu 37 2 219449406 219449406 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:219449406C>T ENST00000273064.6 + 4 767 c.392C>T c.(391-393)cCc>cTc p.P131L RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 131 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAACACGTCCCTTTGAGTAT 0.423000 104 118 0 0 0.003610 0 0 OR10T2 128360 broad.mit.edu 37 1 158369042 158369042 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:158369042G>A ENST00000334438.1 - 1 214 c.215C>T c.(214-216)tCc>tTc p.S72F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AGTGTAGCAGGACTCAGAAAA 0.502000 36 21 0 0 0.004289 0 0 GRIN2A 2903 broad.mit.edu 37 16 9862791 9862791 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:9862791C>T ENST00000396573.2 - 13 2821 c.2512G>A c.(2512-2514)Gag>Aag p.E838K GRIN2A_ENST00000396575.2_Missense_Mutation_p.E838K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E838K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E838K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E838K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E681K NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 838 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGAGGTGCTCCCAGATGAAG 0.592000 27 30 0 0 0.003954 0 0 JPH3 57338 broad.mit.edu 37 16 87717753 87717753 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:87717753C>T ENST00000284262.2 + 3 1408 c.1166C>T c.(1165-1167)tCc>tTc p.S389F JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 389 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CCCAGGACCTCCCACTCTCGG 0.662000 12 14 0 0 0.001855 0 0 TDG 6996 broad.mit.edu 37 12 104373635 104373635 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:104373635C>T ENST00000392872.3 + 3 427 c.193C>T c.(193-195)Ccc>Tcc p.P65S TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P61S NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 65 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAAAGAAAACCCAGAACAAC 0.333000 Base excision repair (BER), DNA glycosylases 4 31 0 0 0.000248 0 0 SPTLC3 55304 broad.mit.edu 37 20 13134715 13134715 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:13134715G>A ENST00000399002.2 + 10 1619 c.1345G>A c.(1345-1347)Gga>Aga p.G449R SPTLC3_ENST00000378194.4_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 449 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GCAGGAAATGGGATTCATTAT 0.423000 29 34 0 0 0.005443 0 0 ZNF676 163223 broad.mit.edu 37 19 22363491 22363491 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:22363491C>T ENST00000397121.2 - 3 1345 c.1028G>A c.(1027-1029)gGg>gAg p.G343E NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G343A(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAAGCTTTCCCGCATTCTTC 0.408000 15 43 0 0 0.003163 0 0 FAM170A 340069 broad.mit.edu 37 5 118969986 118969986 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:118969986C>T ENST00000515256.1 + 3 715 c.543C>T c.(541-543)ctC>ctT p.L181L A1A519 F170A_HUMAN family with sequence similarity 170, member A 181 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 CCAGAAACCTCCTGTCTGACA 0.547000 39 54 0 0 0.008740 0 0 PRSS54 221191 broad.mit.edu 37 16 58314215 58314215 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:58314215C>T ENST00000219301.4 - 7 1495 c.1101G>A c.(1099-1101)agG>agA p.R367R CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.R268R|PRSS54_ENST00000567164.1_Silent_p.R367R|CCDC113_ENST00000219299.4_3'UTR NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 367 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CTGCAAAAATCCTACCTTCCC 0.473000 18 19 0 0 0.006122 0 0 MOV10L1 54456 broad.mit.edu 37 22 50563824 50563824 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:50563824C>T ENST00000262794.5 + 11 1656 c.1573C>T c.(1573-1575)Ctg>Ttg p.L525L MOV10L1_ENST00000395858.3_Silent_p.L525L|MOV10L1_ENST00000540615.1_Silent_p.L505L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.L525L NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 525 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding p.L525L(1)|p.L505L(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TTTCCAGCTTCTGAACATGTC 0.438000 21 32 0 0 0.001523 0 0 TMCO3 55002 broad.mit.edu 37 13 114164616 114164616 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr13:114164616C>T ENST00000434316.2 + 7 1461 c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L TMCO3_ENST00000375391.1_Silent_p.L368L|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 368 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) ATTTGGCTTGCTGTGGGGGCA 0.493000 45 58 0 0 0.003610 0 0 OC90 729330 broad.mit.edu 37 8 133036941 133036941 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:133036941G>A ENST00000262283.5 - 18 1956 c.1857C>T c.(1855-1857)aaC>aaT p.N619N OC90_ENST00000603859.1_Silent_p.N407N|OC90_ENST00000443356.2_Silent_p.N423N|OC90_ENST00000254627.3_Silent_p.N407N Q02509 OC90_HUMAN otoconin 90 423 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGAGGCTTTGGTTAAAGGAGG 0.617000 19 15 0 0 0.008871 0 0 C8orf34 116328 broad.mit.edu 37 8 69434100 69434100 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:69434100G>A ENST00000337103.4 + 5 2091 c.499G>A c.(499-501)Gaa>Aaa p.E167K C8orf34_ENST00000348340.2_Missense_Mutation_p.E192K|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.E278K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E192K Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 192 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGGTAGAGAAGAAAATGATGC 0.428000 18 29 0 0 0.001523 0 0 SPINT1 6692 broad.mit.edu 37 15 41146840 41146840 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:41146840C>T ENST00000344051.4 + 8 1352 c.1118C>T c.(1117-1119)aCg>aTg p.T373M SPINT1_ENST00000431806.1_Missense_Mutation_p.T357M|SPINT1_ENST00000562057.1_Missense_Mutation_p.T357M O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 373 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TCTGCAGACACGAGTGGCTTT 0.607000 32 43 0 0 0.003271 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618462 175618462 + Missense_Mutation SNP C C T rs145421881 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:175618462C>T ENST00000348749.5 - 6 624 c.547G>A c.(547-549)Gac>Aac p.D183N CHRNA1_ENST00000261007.5_Missense_Mutation_p.D208N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.D183N|CHRNA1_ENST00000409219.1_Missense_Mutation_p.D183N|CHRNA1_ENST00000409542.1_Missense_Mutation_p.D101N NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 208 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 TCTGGCTGGTCGCTTTCCTGA 0.572000 7 12 0 0 0.003080 0 0 THSD7B 80731 broad.mit.edu 37 2 137917931 137917931 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:137917931G>A ENST00000409968.1 + 6 1696 c.1518G>A c.(1516-1518)ggG>ggA p.G506G THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.G506G|THSD7B_ENST00000413152.2_Silent_p.G475G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCCTCAGGGGAAAAAAGGTG 0.468000 15 31 0 0 0.006122 0 0 LINC00173 100287569 broad.mit.edu 37 12 116972508 116972508 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:116972508C>T ENST00000480237.1 + 0 779 NR_027345.1 ACAGTGCCATCATTTACTGCC 0.458000 16 39 0 0 0.003163 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148791 103148791 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:103148791G>A ENST00000295269.4 + 12 2498 c.2041G>A c.(2041-2043)Gat>Aat p.D681N NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 681 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTCCTAGATGATGACAGCAG 0.443000 38 52 0 0 0.002522 0 0 OR4C6 219432 broad.mit.edu 37 11 55433566 55433566 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:55433566G>A ENST00000314259.3 + 1 953 c.924G>A c.(922-924)ggG>ggA p.G308G NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CTTTGGCTGGGAAATAACTGC 0.423000 10 14 0 0 0.006214 0 0 DNAH5 1767 broad.mit.edu 37 5 13770902 13770902 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:13770902G>A ENST00000265104.4 - 56 9665 c.9561C>T c.(9559-9561)ttC>ttT p.F3187F DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3187 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCCATATATGAACTTATAGC 0.458000 Kartagener syndrome 17 40 0 0 0.006122 0 0 FAM83B 222584 broad.mit.edu 37 6 54804573 54804573 + Silent SNP C C T rs142915319 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:54804573C>T ENST00000306858.7 + 5 920 c.804C>T c.(802-804)tcC>tcT p.S268S NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 268 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTGTTGAGTCCTTTGATGAAG 0.403000 31 38 0 0 0.003271 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884669 228884669 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:228884669G>A ENST00000392056.3 - 7 947 c.901C>T c.(901-903)Ccc>Tcc p.P301S SPHKAP_ENST00000344657.5_Missense_Mutation_p.P301S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 301 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGGCTGAGGGATCTAGACTC 0.403000 72 83 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13714710 13714710 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:13714710C>T ENST00000265104.4 - 75 13033 c.12929G>A c.(12928-12930)aGc>aAc p.S4310N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4310 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CACCTCAGGGCTGTCATAGGC 0.502000 Kartagener syndrome 18 23 0 0 0.006122 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81066066 81066066 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:81066066C>T ENST00000334512.5 + 22 3205 c.2633C>T c.(2632-2634)cCa>cTa p.P878L ZMIZ1_ENST00000446377.2_Missense_Mutation_p.P31L NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 878 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCGCCTCCCCCAGGGGGCACC 0.642000 32 7 0 0 0.001786 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540517 169540517 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:169540517G>A ENST00000340806.6 + 1 808 c.808G>A c.(808-810)Gag>Aag p.E270K NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 270 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GAACCGCCTGGAGAAGGTGCC 0.622000 15 2 0 0 0.003163 0 0 FRMD7 90167 broad.mit.edu 37 X 131216398 131216398 + Missense_Mutation SNP G G A rs139411571 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:131216398G>A ENST00000298542.4 - 9 1073 c.898C>T c.(898-900)Cgc>Tgc p.R300C FRMD7_ENST00000464296.1_Missense_Mutation_p.R285C|FRMD7_ENST00000370879.1_Missense_Mutation_p.R180C NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 300 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TACCTATAGCGGAAACTGGAA 0.438000 172 253 0 0 0.003610 0 0 DMD 1756 broad.mit.edu 37 X 32407792 32407792 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:32407792C>T ENST00000357033.4 - 32 4551 c.e32-1 DMD_ENST00000378677.2_Splice_Site NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTAATTTTTTCTGTAAGGACA 0.328000 28 67 0 0 0.005443 0 0 ALB 213 broad.mit.edu 37 4 74283809 74283809 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:74283809C>T ENST00000295897.4 + 12 1522 c.1433C>T c.(1432-1434)tCc>tTc p.S478F ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.S286F|ALB_ENST00000503124.1_Missense_Mutation_p.S328F|ALB_ENST00000401494.3_Missense_Mutation_p.S363F|ALB_ENST00000509063.1_Missense_Mutation_p.S478F NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 478 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.S478F(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CTTTAGCTATCCGTGGTCCTG 0.443000 OREG0007698 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ALB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 18 38 0 0 0.006122 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158798 18158798 + Missense_Mutation SNP G G A rs143238196 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:18158798G>A ENST00000396275.2 + 3 410 c.49G>A c.(49-51)Gga>Aga p.G17R NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 17 integral to membrane|plasma membrane G-protein coupled receptor activity p.G17R(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 ACCAATCAACGGACGTGAGGA 0.537000 44 86 0 0 0.003610 0 0 DOCK2 1794 broad.mit.edu 37 5 169423153 169423153 + Silent SNP G G A rs150071550 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:169423153G>A ENST00000256935.8 + 30 3137 c.3057G>A c.(3055-3057)acG>acA p.T1019T DOCK2_ENST00000540750.1_Silent_p.T80T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.T511T NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1019 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGAACACACGAACTTTGAGT 0.502000 20 33 0 0 0.002780 0 0 LGALS9 3965 broad.mit.edu 37 17 25974412 25974412 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:25974412G>A ENST00000395473.2 + 10 2343 c.875G>A c.(874-876)cGa>cAa p.R292Q LGALS9_ENST00000310394.5_Missense_Mutation_p.R248Q|LGALS9_ENST00000302228.5_Missense_Mutation_p.R260Q|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 292 Beta-galactoside binding 2 (By similarity).|Galectin 2. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) TCTGAGGAGCGAAGTCTGCCC 0.597000 15 21 0 0 0.003163 0 0 GABRE 2564 broad.mit.edu 37 X 151123445 151123445 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:151123445C>T ENST00000370328.3 - 9 1302 c.1249G>A c.(1249-1251)Gga>Aga p.G417R GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR NM_004961.3 NP_004952.2 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 417 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CGCTCCTCTCCATCACTTCCC 0.642000 8 9 0 0 0.003080 0 0 AQP1 358 broad.mit.edu 37 7 30962230 30962230 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:30962230G>A ENST00000311813.4 + 3 656 c.601G>A c.(601-603)Gtg>Atg p.V201M AQP1_ENST00000409899.1_Missense_Mutation_p.V86M|AQP1_ENST00000409611.1_Missense_Mutation_p.V150M|AQP1_ENST00000441328.2_Missense_Mutation_p.V118M|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.V378M|AQP1_ENST00000434909.2_Missense_Mutation_p.V261M NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) TGGCTCCGCGGTGATCACACA 0.577000 112 131 0 0 0.003610 0 0 DNAH8 1769 broad.mit.edu 37 6 38791338 38791338 + Splice_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:38791338G>A ENST00000359357.3 + 26 3324 c.3069_splice c.e26-1 p.E1024_splice DNAH8_ENST00000449981.2_Splice_Site_p.E1241_splice|DNAH8_ENST00000441566.1_Splice_Site_p.E1024_splice dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTTACCACAGGAATTTTTGGC 0.308000 40 25 0 0 0.003214 0 0 PLXNA3 55558 broad.mit.edu 37 X 153699655 153699655 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:153699655G>A ENST00000369682.3 + 31 5539 c.5364G>A c.(5362-5364)gtG>gtA p.V1788V NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1788 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGAGCTGGGTGGAGAGGTGGG 0.657000 51 60 0 0 0.003610 0 0 MET 4233 broad.mit.edu 37 7 116436101 116436101 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:116436101C>T ENST00000397752.3 + 21 4296 c.4096C>T c.(4096-4098)Cct>Tct p.P1366S MET_ENST00000539704.1_Missense_Mutation_p.P236S|MET_ENST00000318493.6_Missense_Mutation_p.P1384S NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 1366 Interaction with RANBP9. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CGCTCCGTATCCTTCTCTGTT 0.468000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 54 80 0 0 0.003610 0 0 KLRD1 3824 broad.mit.edu 37 12 10467363 10467363 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:10467363C>T ENST00000381908.3 + 6 774 c.514C>T c.(514-516)Cgt>Tgt p.R172C KLRD1_ENST00000336164.4_Missense_Mutation_p.R171C|KLRD1_ENST00000350274.5_Missense_Mutation_p.R140C|KLRD1_ENST00000381907.4_Missense_Mutation_p.R171C|KLRD1_ENST00000543777.1_Missense_Mutation_p.R150C|KLRD1_ENST00000543420.1_3'UTR Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, member 1 171 C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 10 AGATAAAAATCGTTATATCTG 0.333000 31 44 0 0 0.001786 0 0 PCDH18 54510 broad.mit.edu 37 4 138442574 138442574 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:138442574G>A ENST00000344876.4 - 4 3403 c.3017C>T c.(3016-3018)tCg>tTg p.S1006L PCDH18_ENST00000511115.1_Missense_Mutation_p.S186L|PCDH18_ENST00000510305.1_Missense_Mutation_p.S217L|PCDH18_ENST00000507846.1_Missense_Mutation_p.S785L|PCDH18_ENST00000412923.2_Missense_Mutation_p.S1005L NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1006 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GCTCATTTCCGAGAGCAGAGA 0.527000 25 24 0 0 0.007291 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478632 21478632 + Missense_Mutation SNP A A C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:21478632A>C ENST00000281523.2 - 5 1021 c.503T>G c.(502-504)gTt>gGt p.V168G ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 168 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AGTTGTCATAACACTGCTTTT 0.443000 41 65 0 0 0.002852 0 0 CATSPERB 79820 broad.mit.edu 37 14 92170938 92170938 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:92170938C>T ENST00000256343.3 - 7 730 c.574G>A c.(574-576)Gat>Aat p.D192N NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 192 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AATGCCACATCATTGGCACAG 0.383000 35 60 0 0 0.002445 0 0 WBP11 51729 broad.mit.edu 37 12 14943565 14943565 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:14943565G>A ENST00000261167.2 - 10 1367 c.1134C>T c.(1132-1134)tcC>tcT p.S378S WBP11_ENST00000537574.1_Silent_p.S378S NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 378 mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 CATCAGAATGGGATTCCTCTT 0.498000 23 31 0 0 0.002780 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907865 12907865 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:12907865C>T ENST00000317869.6 - 2 503 c.278G>A c.(277-279)gGa>gAa p.G93E NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 ACCTGCGTTTCCTCGGTTCAC 0.483000 15 94 0 0 0.004007 0 0 DOCK1 1793 broad.mit.edu 37 10 129237477 129237477 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:129237477C>T ENST00000280333.6 + 49 5293 c.5184C>T c.(5182-5184)atC>atT p.I1728I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1728 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGGCTGTGATCCTTTCGGAAA 0.502000 4 2 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179433574 179433574 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:179433574G>A ENST00000589042.1 - 326 77509 c.77285C>T c.(77284-77286)aCt>aTt p.T25762I TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T24121I|TTN_ENST00000342175.6_Missense_Mutation_p.T16889I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T16697I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T23194I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T16822I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24121 Fibronectin type-III 87. 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) TTCCCCTTGAGTTAGGTTGGT 0.403000 48 43 0 0 0.003610 0 0 ZW10 9183 broad.mit.edu 37 11 113604494 113604494 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:113604494G>A ENST00000200135.3 - 16 2406 c.2262C>T c.(2260-2262)tcC>tcT p.S754S NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 754 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTACTTCACTGGAAGAGAACG 0.423000 37 26 0 0 0.003271 0 0 AMER1 139285 broad.mit.edu 37 X 63410355 63410355 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:63410355C>T ENST00000330258.3 - 2 3084 c.2812G>A c.(2812-2814)Gga>Aga p.G938R AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTCCATTCTCCTTCTTCCTCC 0.587000 33 26 0 0 0.004289 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093385 30093385 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:30093385C>T ENST00000567636.1 + 0 1760 NR_003558.1 GATCTGCCCCCCTGGGCTTTT 0.498000 14 26 0 0 0.001855 0 0 MYH6 4624 broad.mit.edu 37 14 23855281 23855281 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:23855281G>A ENST00000405093.3 - 34 5089 c.5019C>T c.(5017-5019)atC>atT p.I1673I MYH6_ENST00000356287.3_Silent_p.I1673I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1673 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCACGATGGCGATGTTCTCCT 0.647000 15 38 0 0 0.002450 0 0 DENND3 22898 broad.mit.edu 37 8 142151390 142151390 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:142151390C>T ENST00000519811.1 + 4 660 c.590C>T c.(589-591)cCc>cTc p.P197L DENND3_ENST00000262585.2_Missense_Mutation_p.P117L|DENND3_ENST00000518347.1_Missense_Mutation_p.P197L|DENND3_ENST00000424248.1_Missense_Mutation_p.P117L A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 117 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCAGGTTTCCCTATTACAAC 0.582000 58 120 0 0 0.003610 0 0 TENM1 10178 broad.mit.edu 37 X 123657415 123657415 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:123657415G>A ENST00000422452.2 - 17 2895 c.2832C>T c.(2830-2832)ttC>ttT p.F944F TENM1_ENST00000371130.3_Silent_p.F944F NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCTCAGGCAGGAAAGGGGATC 0.458000 31 28 0 0 0.008361 0 0 LRRTM2 26045 broad.mit.edu 37 5 138209494 138209494 + Nonsense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:138209494C>T ENST00000274711.6 - 2 1134 c.756G>A c.(754-756)tgG>tgA p.W252* CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000302763.7_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 252 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTAAAGTGCCCCAGGTCCACT 0.423000 164 222 0 0 0.003610 0 0 OR11L1 391189 broad.mit.edu 37 1 248004495 248004495 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:248004495C>T ENST00000355784.2 - 1 759 c.704G>A c.(703-705)aGa>aAa p.R235K NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAAGGTCTTTCTCCGGCCAGA 0.507000 29 49 0 0 0.007291 0 0 SENP1 29843 broad.mit.edu 37 12 48458952 48458952 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:48458952G>A ENST00000004980.5 - 12 1649 c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C SENP1_ENST00000448372.1_Missense_Mutation_p.R391C|SENP1_ENST00000549595.1_Missense_Mutation_p.R391C|SENP1_ENST00000551330.1_Missense_Mutation_p.R391C|SENP1_ENST00000549518.1_Missense_Mutation_p.R391C|SENP1_ENST00000339976.6_3'UTR Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 391 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AGAGGTACACGAAGATGTAGT 0.358000 11 16 0 0 0.008291 0 0 AKAP3 10566 broad.mit.edu 37 12 4736158 4736158 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:4736158G>A ENST00000545990.2 - 5 2434 c.1910C>T c.(1909-1911)cCc>cTc p.P637L AKAP3_ENST00000228850.1_Missense_Mutation_p.P637L NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 637 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TAGCCTGGGGGGAGAAGACGC 0.542000 15 20 0 0 0.002450 0 0 TEK 7010 broad.mit.edu 37 9 27212783 27212783 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:27212783C>T ENST00000380036.4 + 17 3207 c.2765C>T c.(2764-2766)aCg>aTg p.T922M TEK_ENST00000519097.1_Missense_Mutation_p.T774M|TEK_ENST00000406359.4_Missense_Mutation_p.T879M NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 922 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GTGCTGGAGACGGACCCAGCA 0.592000 13 3 0 0 0.001855 0 0 HBG2 3048 broad.mit.edu 37 11 5275573 5275573 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:5275573C>T ENST00000380259.2 - 7 1504 c.264G>A c.(262-264)caG>caA p.Q88Q HBG2_ENST00000336906.4_Silent_p.Q88Q|HBG2_ENST00000380252.1_Silent_p.Q78Q hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTCACTCAGCTGGGCAAAGG 0.517000 42 98 0 0 0.002852 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810729 140810729 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140810729G>A ENST00000252085.3 + 1 545 c.403G>A c.(403-405)Gaa>Aaa p.E135K PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACTTTCGTGAAAGTGAATT 0.413000 40 99 0 0 0.007835 0 0 SCN5A 6331 broad.mit.edu 37 3 38620851 38620851 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:38620851C>T ENST00000413689.1 - 18 3557 c.3364G>A c.(3364-3366)Gaa>Aaa p.E1122K SCN5A_ENST00000455624.2_Missense_Mutation_p.E1121K|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1121K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1122K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1122K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1121K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1122K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1122 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) GCCTGGGGTTCCGCTTTCCAC 0.657000 5 6 0 0 0.000602 0 0 MCF2 4168 broad.mit.edu 37 X 138697137 138697137 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:138697137C>T ENST00000520602.1 - 13 1731 c.1446G>A c.(1444-1446)agG>agA p.R482R MCF2_ENST00000519895.1_Silent_p.R482R|MCF2_ENST00000338585.6_Silent_p.R422R|MCF2_ENST00000370578.4_Silent_p.R567R|MCF2_ENST00000370576.4_Silent_p.R422R|MCF2_ENST00000536274.1_Silent_p.R383R|MCF2_ENST00000414978.1_Silent_p.R482R|MCF2_ENST00000370573.4_Silent_p.R422R P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 422 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CTGCCAGGTTCCTGAAACCAG 0.398000 108 134 0 0 0.003610 0 0 ERC2 26059 broad.mit.edu 37 3 56330286 56330286 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:56330286G>A ENST00000288221.6 - 3 1090 c.835C>T c.(835-837)Ctt>Ttt p.L279F NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 279 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTCCTCAAAAGGAACAGCTCC 0.493000 100 168 0 0 0.003610 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158799 18158799 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:18158799G>A ENST00000396275.2 + 3 411 c.50G>A c.(49-51)gGa>gAa p.G17E NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 17 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CCAATCAACGGACGTGAGGAG 0.537000 45 87 0 0 0.003610 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734855 16734855 + RNA SNP C C T rs688852 by1000genomes TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:16734855C>T ENST00000579062.1 - 0 460 p.R183Q(1) CACAGTCTGCCGCAGGGCCAG 0.632000 5 19 0 0 0.001984 0 0 FAM135A 57579 broad.mit.edu 37 6 71238106 71238106 + Missense_Mutation SNP T T G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:71238106T>G ENST00000418814.2 + 16 4340 c.3726T>G c.(3724-3726)gaT>gaG p.D1242E FAM135A_ENST00000457062.2_Missense_Mutation_p.D1029E|FAM135A_ENST00000361499.3_Missense_Mutation_p.D1046E|FAM135A_ENST00000370479.3_Missense_Mutation_p.D1029E|FAM135A_ENST00000505868.1_Missense_Mutation_p.D1242E|FAM135A_ENST00000505769.1_Missense_Mutation_p.D822E NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 1242 D -> G (in dbSNP:rs2747701). breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 AAGAAGAGGATGGTTCTGAAG 0.403000 24 32 0 0 0.002780 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 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 51 7 0 0 0.003610 0 0 FAT4 79633 broad.mit.edu 37 4 126373578 126373578 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:126373578C>T ENST00000394329.3 + 9 11420 c.11407C>T c.(11407-11409)Cat>Tat p.H3803Y FAT4_ENST00000335110.5_Missense_Mutation_p.H2101Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3803 EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H3803Y(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCTGTGGATCATGACTCCTG 0.483000 23 32 0 0 0.002299 0 0 AC005609.1 0 broad.mit.edu 37 5 140242880 140242880 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140242880C>T ENST00000502505.1 - 1 344 c.96G>A c.(94-96)atG>atA p.M32I PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron TGTACCTGATCATCGCCATCT 0.652000 9 17 0 0 0.008291 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488820 20488820 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr15:20488820C>T ENST00000555186.1 + 0 303 NR_038836.1 GAACCCCCACCTGCTTGGCTC 0.423000 15 87 0 0 0.003163 0 0 MYOCD 93649 broad.mit.edu 37 17 12649307 12649307 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:12649307C>T ENST00000425538.1 + 9 1243 c.1043C>T c.(1042-1044)cCt>cTt p.P348L MYOCD_ENST00000343344.4_Missense_Mutation_p.P348L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P252L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 348 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCTTGTCTCCTGTCAAAAAC 0.428000 63 58 0 0 0.003610 0 0 IQCA1 79781 broad.mit.edu 37 2 237272552 237272552 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:237272552C>T ENST00000409907.3 - 15 2014 c.1740G>A c.(1738-1740)ggG>ggA p.G580G IQCA1_ENST00000309507.5_Silent_p.G577G|IQCA1_ENST00000431676.2_Silent_p.G539G Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 580 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GCATTTTCTTCCCTACCCCAG 0.512000 29 44 0 0 0.006320 0 0 DNAH1 25981 broad.mit.edu 37 3 52428618 52428618 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:52428618C>T ENST00000420323.2 + 67 11025 c.10764C>T c.(10762-10764)tcC>tcT p.S3588S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3653 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTTCTCTTCCGACTTCGTGA 0.577000 14 27 0 0 0.001855 0 0 LILRB4 11006 broad.mit.edu 37 19 55179188 55179188 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:55179188G>A ENST00000391736.1 + 13 1459 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K LILRB4_ENST00000430952.2_Missense_Mutation_p.E381K|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.E382K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E383K NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 382 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ACTGTCTGGGGAATTCCTGGA 0.592000 13 71 0 0 0.002450 0 0 MOCS1 4337 broad.mit.edu 37 6 39895171 39895171 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:39895171G>A ENST00000373186.4 - 1 284 c.147C>T c.(145-147)ttC>ttT p.F49F MOCS1_ENST00000340692.5_Silent_p.F49F|MOCS1_ENST00000373188.2_Silent_p.F49F|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000432280.2_Silent_p.F20F|MOCS1_ENST00000425303.2_Silent_p.F49F|MOCS1_ENST00000308559.7_Silent_p.F49F|MOCS1_ENST00000373175.4_Silent_p.F20F NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 49 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GCTCCCGCAGGAACTGCCTCC 0.657000 21 11 0 0 0.008871 0 0 TMEM108 66000 broad.mit.edu 37 3 133099648 133099648 + Missense_Mutation SNP G G A rs79118437 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:133099648G>A ENST00000515826.1 + 3 1216 c.1093G>A c.(1093-1095)Gat>Aat p.D365N TMEM108_ENST00000393130.3_Missense_Mutation_p.D365N|TMEM108_ENST00000321871.6_Missense_Mutation_p.D365N|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 365 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGCTGCCTTCGATACCAGTGT 0.592000 27 31 0 0 0.006320 0 0 CNTN4 152330 broad.mit.edu 37 3 2787269 2787269 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:2787269G>A ENST00000397461.1 + 5 630 c.246G>A c.(244-246)ggG>ggA p.G82G CNTN4_ENST00000418658.1_Silent_p.G82G|CNTN4_ENST00000427331.1_Silent_p.G82G NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 82 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTGTTGAAGGGAGCTTGTTGA 0.413000 32 51 0 0 0.004289 0 0 SPTLC3 55304 broad.mit.edu 37 20 13098186 13098186 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:13098186C>T ENST00000399002.2 + 8 1240 c.966C>T c.(964-966)atC>atT p.I322I SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 322 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TGCCCCAGATCATAGCTCTAA 0.507000 64 115 0 0 0.003610 0 0 ITGB8 3696 broad.mit.edu 37 7 20418902 20418902 + Missense_Mutation SNP G G C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:20418902G>C ENST00000222573.3 + 4 1301 c.617G>C c.(616-618)aGg>aCg p.R206T ITGB8_ENST00000537992.1_Missense_Mutation_p.R71T NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 206 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CACCCCGAAAGGATTCATAAT 0.338000 11 21 0 0 0.001368 0 0 PTPRT 11122 broad.mit.edu 37 20 40727111 40727111 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:40727111C>T ENST00000373198.3 - 28 4097 c.3862G>A c.(3862-3864)Gat>Aat p.D1288N PTPRT_ENST00000373201.1_Missense_Mutation_p.D1256N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1276N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1265N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1269N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1275N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D1266N NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1266 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.D1288N(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAGTTGTAATCGAACACCAGC 0.587000 35 18 0 0 0.004878 0 0 DEDD 9191 broad.mit.edu 37 1 161092180 161092180 + Silent SNP G G C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:161092180G>C ENST00000392188.1 - 6 1038 c.804C>G c.(802-804)tcC>tcG p.S268S DEDD_ENST00000545495.1_Silent_p.S238S|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Silent_p.S238S|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Silent_p.S238S|DEDD_ENST00000368005.1_Silent_p.S268S O75618 DEDD_HUMAN death effector domain containing 238 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCAGGTCCCGGGACTTGAGGA 0.522000 51 55 0 0 0.003610 0 0 CUBNP3 100421634 broad.mit.edu 37 10 45642860 45642860 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:45642860G>A ENST00000427229.2 + 0 19 CACCTCCTAGGAAATATGCAG 0.428000 7 1 0 0 0.001984 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887961 30887961 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:30887961C>T ENST00000392772.2 - 10 887 c.e10-1 SEC14L4_ENST00000255858.7_Splice_Site|SEC14L4_ENST00000540456.1_Splice_Site|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Splice_Site Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CATAGTTGATCTGTGGGTGAA 0.617000 24 35 0 0 0.005443 0 0 TAL1 6886 broad.mit.edu 37 1 47685844 47685844 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:47685844G>A ENST00000371883.3 - 4 1126 c.550C>T c.(550-552)Ccc>Tcc p.P184S TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.P182S|TAL1_ENST00000294339.3_Missense_Mutation_p.P182S P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 182 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TTGGTGTGGGGACCTGGAGAT 0.552000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 11 13 0 0 0.000978 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939636 12939636 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:12939636C>T ENST00000235349.5 - 4 1236 c.1166G>A c.(1165-1167)gGa>gAa p.G389E NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 389 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATGGGATTTCCACAGAAGCT 0.522000 130 173 0 0 0.003610 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218372 130218372 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:130218372G>A ENST00000276211.5 + 5 1084 c.739G>A c.(739-741)Gaa>Aaa p.E247K ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E235K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.E111K NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 247 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CCAATTCATTGAAAAACATGG 0.478000 12 15 0 0 0.001368 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110033912 110033912 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:110033912C>T ENST00000369870.3 + 10 1742 c.1727C>T c.(1726-1728)cCt>cTt p.P576L ATXN7L2_ENST00000459635.1_3'UTR NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 576 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) AAGTTATCCCCTGGCCCTACC 0.592000 236 288 0 0 0.003610 0 0 OR11H12 440153 broad.mit.edu 37 14 19378109 19378109 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:19378109G>A ENST00000550708.1 + 1 588 c.516G>A c.(514-516)ctG>ctA p.L172L NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGTTCCTGATCCCCATTG 0.478000 37 121 0 0 0.003610 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10575720 10575720 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:10575720C>T ENST00000396560.2 + 12 1890 c.1663C>T c.(1663-1665)Cct>Tct p.P555S ATF7IP2_ENST00000396559.1_Silent_p.H532H|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P99S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P555S|ATF7IP2_ENST00000324570.5_Silent_p.H532H NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 555 P -> L (in Ref. 5; BAD97212). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 GCACCTGCCACCTCTCCCAGA 0.423000 19 33 0 0 0.001882 0 0 SLC4A10 57282 broad.mit.edu 37 2 162813628 162813628 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:162813628G>A ENST00000375514.5 + 20 2901 c.2614G>A c.(2614-2616)Gaa>Aaa p.E872K SLC4A10_ENST00000415876.2_Missense_Mutation_p.E861K|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E891K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E891K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E861K NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 891 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CCTAAAACTGGAATCAGAATG 0.478000 16 16 0 0 0.004990 0 0 PSMD3 5709 broad.mit.edu 37 17 38142870 38142870 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:38142870G>A ENST00000264639.4 + 3 628 c.454G>A c.(454-456)Gga>Aga p.G152R PSMD3_ENST00000541736.1_Missense_Mutation_p.G14R NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 152 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) TCCCCGCACGGGAAAAGCTGC 0.507000 69 99 0 0 0.003610 0 0 C4BPA 722 broad.mit.edu 37 1 207287489 207287489 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:207287489G>A ENST00000367070.3 + 3 381 c.187G>A c.(187-189)Gat>Aat p.D63N NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 63 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGCCCCGATGGATATTACGTT 0.478000 53 113 0 0 0.003610 0 0 OR11H12 440153 broad.mit.edu 37 14 19377829 19377829 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:19377829G>A ENST00000550708.1 + 1 308 c.236G>A c.(235-237)gGa>gAa p.G79E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGTTCCTGGGAAATTTCTCC 0.413000 50 62 0 0 0.003610 0 0 PASD1 139135 broad.mit.edu 37 X 150832597 150832597 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:150832597C>T ENST00000370357.4 + 11 1093 c.848C>T c.(847-849)tCc>tTc p.S283F NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 283 nucleus signal transducer activity p.S283F(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) TCAGCCTTATCCTTGCAAGAC 0.473000 26 60 0 0 0.006320 0 0 PTH 5741 broad.mit.edu 37 11 13514139 13514139 + Nonsense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:13514139C>T ENST00000282091.1 - 3 275 c.161G>A c.(160-162)tGg>tAg p.W54* PTH_ENST00000529816.1_Nonsense_Mutation_p.W54* NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 54 Important for receptor binding. bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) CTTACGCAGCCATTCTACTCT 0.493000 29 43 0 0 0.007291 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791773 8791773 + Missense_Mutation SNP T T A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:8791773T>A ENST00000447110.1 - 10 1455 c.1331A>T c.(1330-1332)gAg>gTg p.E444V PIK3R5_ENST00000581552.1_Missense_Mutation_p.E444V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.E444V NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 444 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CGAGCTGCCCTCCAGGCTCCG 0.677000 9 5 0 0 0.006214 0 0 SASS6 163786 broad.mit.edu 37 1 100587028 100587028 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:100587028G>A ENST00000287482.5 - 5 529 c.389C>T c.(388-390)cCt>cTt p.P130L SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_5'UTR NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 130 centriole replication centriole p.P130L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) ATGCTTAAAAGGATTTGTCTC 0.348000 21 23 0 0 0.008871 0 0 BMP5 653 broad.mit.edu 37 6 55639005 55639005 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:55639005C>T ENST00000370830.3 - 4 1567 c.869G>A c.(868-870)gGa>gAa p.G290E BMP5_ENST00000446683.2_Missense_Mutation_p.G290E NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 290 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TCCCTGTCTTCCCACAAGACC 0.423000 28 60 0 0 0.007291 0 0 SCAF4 57466 broad.mit.edu 37 21 33057751 33057751 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:33057751G>A ENST00000286835.7 - 18 2638 c.2256C>T c.(2254-2256)tcC>tcT p.S752S SCAF4_ENST00000399804.1_Silent_p.S752S|SCAF4_ENST00000434667.3_Silent_p.S737S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 752 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GAGGAGGAATGGATACTGGTG 0.453000 38 54 0 0 0.007835 0 0 FCRL4 83417 broad.mit.edu 37 1 157567718 157567718 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:157567718G>A ENST00000271532.1 - 1 152 c.17C>T c.(16-18)tCc>tTc p.S6F NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 6 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GGCCAGCAAGGACGCCCACAG 0.547000 20 16 0 0 0.001882 0 0 AICDA 57379 broad.mit.edu 37 12 8757440 8757440 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:8757440G>A ENST00000229335.6 - 4 609 c.506C>T c.(505-507)tCa>tTa p.S169L AICDA_ENST00000537228.1_Missense_Mutation_p.S159L NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 169 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) GAGACGAACTGAATTTTCATG 0.378000 69 91 0 0 0.003610 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23952324 23952324 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:23952324G>A ENST00000443659.2 - 2 849 c.72C>T c.(70-72)ctC>ctT p.L24L NKIRAS1_ENST00000415901.2_Silent_p.L24L|NKIRAS1_ENST00000437230.1_Silent_p.L24L|NKIRAS1_ENST00000425478.2_Silent_p.L24L|NKIRAS1_ENST00000416026.2_Silent_p.L24L|NKIRAS1_ENST00000421515.2_Silent_p.L24L|NKIRAS1_ENST00000412028.1_Silent_p.L24L|NKIRAS1_ENST00000388759.3_Silent_p.L24L Q9NYS0 KBRS1_HUMAN NFKB inhibitor interacting Ras-like 1 24 I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 TTCCATAAAGGAGCTGCTCCA 0.418000 11 12 0 0 0.008291 0 0 BSND 7809 broad.mit.edu 37 1 55474160 55474160 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:55474160G>A ENST00000371265.4 + 4 1076 c.822G>A c.(820-822)aaG>aaA p.K274K NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 274 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CAAGGACAAAGGTGGAGGAGA 0.597000 16 24 0 0 0.004007 0 0 STAB1 23166 broad.mit.edu 37 3 52547918 52547918 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:52547918G>A ENST00000321725.6 + 32 3444 c.3368G>A c.(3367-3369)gGg>gAg p.G1123E NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1123 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCCCCCCGAGGGGATGTGCCC 0.622000 56 108 0 0 0.003610 0 0 TXN2 25828 broad.mit.edu 37 22 36863860 36863860 + Silent SNP C C A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:36863860C>A ENST00000216185.2 - 4 958 c.492G>T c.(490-492)ctG>ctT p.L164L TXN2_ENST00000403313.1_Silent_p.L164L|TXN2_ENST00000416967.1_Silent_p.L62L|TXN2_ENST00000487725.1_5'UTR Q99757 THIOM_HUMAN thioredoxin 2 164 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 GTCAGCCAATCAGCTTCTTCA 0.587000 31 28 2.20262e-25 2.47015e-25 0.002836 1 0 AGMAT 79814 broad.mit.edu 37 1 15901252 15901252 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:15901252C>T ENST00000375826.3 - 6 1127 c.985_splice c.e6+1 p.G329_splice DNAJC16_ENST00000375849.1_Intron|DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) 329 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) GCTTACTCACCAGAAAGATCA 0.478000 20 35 0 0 0.001523 0 0 DEFA6 1671 broad.mit.edu 37 8 6782433 6782433 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:6782433G>A ENST00000297436.2 - 2 250 c.210C>T c.(208-210)ttC>ttT p.F70F NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 70 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AATGGCAAGTGAAAGCCCTTG 0.493000 28 10 0 0 0.007291 0 0 TSIX 9383 broad.mit.edu 37 X 73044289 73044289 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:73044289G>A ENST00000604411.1 + 0 32250 XIST_ENST00000429829.1_lincRNA NR_003255.2 tTTGGCTGTGGCTAAATGAAA 0.343000 8 9 0 0 0.006214 0 0 FLNA 2316 broad.mit.edu 37 X 153582086 153582086 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:153582086G>A ENST00000422373.1 - 35 5920 c.5672C>T c.(5671-5673)tCt>tTt p.S1891F FLNA_ENST00000360319.4_Missense_Mutation_p.S1891F|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000344736.4_Missense_Mutation_p.S1859F|FLNA_ENST00000369850.3_Missense_Mutation_p.S1899F NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1899 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AATGGCCAGAGACAGGCCCCC 0.632000 OREG0003596 type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 8 0 0 0.001984 0 0 EBF2 64641 broad.mit.edu 37 8 25708175 25708175 + Missense_Mutation SNP G G T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:25708175G>T ENST00000520164.1 - 15 2168 c.1631C>A c.(1630-1632)cCt>cAt p.P544H EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Missense_Mutation_p.P396H NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 544 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CCTGATGACAGGGGCAAAGGC 0.512000 44 11 8.01111e-26 9.00234e-26 0.002522 1 0 FAM134A 79137 broad.mit.edu 37 2 220044464 220044464 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:220044464C>T ENST00000430297.2 + 3 534 c.398C>T c.(397-399)cCa>cTa p.P133L NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 133 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCATCATCCCCAGAGGAGCCA 0.572000 42 64 0 0 0.003610 0 0 FAM71F1 84691 broad.mit.edu 37 7 128356957 128356957 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:128356957C>T ENST00000315184.5 + 2 393 c.340C>T c.(340-342)Ccc>Tcc p.P114S FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.P35L NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 114 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCTGCCCCTCCCCAACATCCT 0.567000 18 19 0 0 0.006122 0 0 ZNF480 147657 broad.mit.edu 37 19 52825260 52825260 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:52825260C>T ENST00000595962.1 + 5 823 c.757C>T c.(757-759)Cat>Tat p.H253Y ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.H176Y|ZNF480_ENST00000334564.7_Missense_Mutation_p.H210Y NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TTGTAGAATTCATACTGGAGA 0.368000 15 44 0 0 0.002450 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757297 56757297 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:56757297G>A ENST00000326855.2 + 1 951 c.909G>A c.(907-909)gtG>gtA p.V303V NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CTTTAAAAGTGATAGGGAAAA 0.299000 8 12 0 0 0.003080 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946364 16946364 + RNA SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:16946364G>A ENST00000412962.1 - 0 1155 TCTCGGCCAGGAGGAGGCCCT 0.657000 3 14 0 0 0.004672 0 0 ISL1 3670 broad.mit.edu 37 5 50687119 50687119 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:50687119G>A ENST00000230658.7 + 5 1362 c.777G>A c.(775-777)ggG>ggA p.G259G ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Intron NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 259 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) ATATCCAGGGGATGACAGGAA 0.517000 15 23 0 0 0.004990 0 0 SEPT6 23157 broad.mit.edu 37 X 118771077 118771077 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:118771077G>A ENST00000394610.1 - 7 1133 c.869C>T c.(868-870)aCc>aTc p.T290I SEPT6_ENST00000354416.3_Missense_Mutation_p.T290I|SEPT6_ENST00000354228.4_Missense_Mutation_p.T290I|SEPT6_ENST00000360156.7_Missense_Mutation_p.T290I|SEPT6_ENST00000489216.1_Missense_Mutation_p.T290I|SEPT6_ENST00000394616.4_Missense_Mutation_p.T232I|SEPT6_ENST00000394617.2_Missense_Mutation_p.T320I|SEPT6_ENST00000343984.5_Missense_Mutation_p.T290I NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 290 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CCGGGTGTGGGTCTGCTCCCG 0.577000 T MLL AML 36 51 0 0 0.006999 0 0 GAD1 2571 broad.mit.edu 37 2 171702538 171702538 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:171702538G>A ENST00000358196.3 + 10 1517 c.967G>A c.(967-969)Gat>Aat p.D323N NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 323 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AATTCCAGCTGATTTTGAGGC 0.353000 29 36 0 0 0.001786 0 0 TNXB 7148 broad.mit.edu 37 6 32065114 32065114 + Missense_Mutation SNP A A C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:32065114A>C ENST00000375244.3 - 3 717 c.516T>G c.(514-516)gaT>gaG p.D172E TNXB_ENST00000479795.1_Missense_Mutation_p.D172E|TNXB_ENST00000375247.2_Missense_Mutation_p.D172E P22105 TENX_HUMAN tenascin XB 172 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGATCTCAGCATCTGTGGGGT 0.622000 229 179 0 0 0.003610 0 0 CFH 3075 broad.mit.edu 37 1 196706034 196706034 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:196706034G>A ENST00000367429.4 + 16 2734 c.2494G>A c.(2494-2496)Gga>Aga p.G832R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 832 Sushi 14. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTATCGGGATGGAGAAAAAGT 0.358000 22 13 0 0 0.002780 0 0 DHX58 79132 broad.mit.edu 37 17 40260089 40260089 + Missense_Mutation SNP T T A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:40260089T>A ENST00000251642.3 - 7 938 c.716A>T c.(715-717)cAa>cTa p.Q239L NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 239 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GTCATGGATTTGGTCCATGAG 0.562000 39 54 0 0 0.002222 0 0 TBCE 6905 broad.mit.edu 37 1 235605135 235605135 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:235605135G>A ENST00000543662.1 + 15 1536 c.1430G>A c.(1429-1431)gGt>gAt p.G477D TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.G426D|TBCE_ENST00000406207.1_Missense_Mutation_p.G426D Q15813 TBCE_HUMAN tubulin folding cofactor E 426 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) ACAGAATATGGTGCACCTGAA 0.338000 30 17 0 0 0.008361 0 0 OR1E1 8387 broad.mit.edu 37 17 3301279 3301279 + Silent SNP G G A rs144699002 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:3301279G>A ENST00000322608.2 - 1 425 c.426C>T c.(424-426)ctC>ctT p.L142L NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 CCACCAGGGCGAGACAGAGCA 0.572000 OREG0007321 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 19 31 0 0 0.002299 0 0 PHKB 5257 broad.mit.edu 37 16 47699866 47699866 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:47699866C>T ENST00000299167.8 + 25 2375 c.2350C>T c.(2350-2352)Cgt>Tgt p.R784C PHKB_ENST00000566044.1_Missense_Mutation_p.R777C|PHKB_ENST00000323584.5_Intron|PHKB_ENST00000455779.1_Intron Q93100 KPBB_HUMAN phosphorylase kinase, beta 784 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GGTTGTACGCCGTGCAGCAAG 0.458000 24 25 0 0 0.004656 0 0 SYTL4 94121 broad.mit.edu 37 X 99944858 99944858 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:99944858C>T ENST00000372981.1 - 9 1093 c.907G>A c.(907-909)Gat>Aat p.D303N SYTL4_ENST00000372989.1_Missense_Mutation_p.D303N|SYTL4_ENST00000263033.5_Missense_Mutation_p.D303N|SYTL4_ENST00000455616.1_Missense_Mutation_p.D303N|SYTL4_ENST00000276141.6_Missense_Mutation_p.D303N|SYTL4_ENST00000454200.2_Missense_Mutation_p.D304N Q96C24 SYTL4_HUMAN synaptotagmin-like 4 303 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTACCATATCCACATTGAGG 0.403000 19 27 0 0 0.001523 0 0 GALNT16 57452 broad.mit.edu 37 14 69795228 69795228 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:69795228G>A ENST00000337827.4 + 6 957 c.630G>A c.(628-630)ctG>ctA p.L210L GALNT16_ENST00000448469.3_Silent_p.L210L|GALNT16_ENST00000553669.1_Silent_p.L210L NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 TCACCTTTCTGGATAGCCACT 0.642000 68 89 0 0 0.003610 0 0 SYT4 6860 broad.mit.edu 37 18 40850433 40850433 + Missense_Mutation SNP C C A rs149020215 byFrequency TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:40850433C>A ENST00000255224.3 - 4 1519 c.1151G>T c.(1150-1152)cGa>cTa p.R384L SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.R366L NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 384 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.R384Q(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 TACCTCATTTCGGGACCCCCT 0.458000 41 54 1.30998e-17 1.46317e-17 0.005524 1 0 SEMG1 6406 broad.mit.edu 37 20 43836294 43836294 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:43836294C>T ENST00000372781.3 + 2 413 c.356C>T c.(355-357)tCa>tTa p.S119L SEMG1_ENST00000244069.6_Missense_Mutation_p.S119L NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CATGATAAATCAAAAGGTCAT 0.418000 26 23 0 0 0.003954 0 0 LARP4 113251 broad.mit.edu 37 12 50867196 50867196 + Splice_Site SNP A A G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:50867196A>G ENST00000398473.2 + 14 1657 c.e14-1 LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000518444.1_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000429001.3_Splice_Site NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 TTTTACTTTAAGGATAATGAA 0.373000 19 5 0 0 0.007413 0 0 NR3C1 2908 broad.mit.edu 37 5 142689668 142689668 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:142689668G>A ENST00000343796.2 - 4 2455 c.1462C>T c.(1462-1464)Ctg>Ttg p.L488L NR3C1_ENST00000424646.2_Silent_p.L462L|NR3C1_ENST00000394464.2_Silent_p.L488L|NR3C1_ENST00000394466.2_Silent_p.L489L|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000504572.1_Silent_p.L489L|NR3C1_ENST00000416954.2_Silent_p.L91L|NR3C1_ENST00000503201.1_Silent_p.L488L|NR3C1_ENST00000415690.2_Silent_p.L488L|NR3C1_ENST00000231509.3_Silent_p.L489L NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 488 Hinge. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) TTACCTTCCAGGTTCATTCCA 0.343000 18 17 0 0 0.008871 0 0 ASH1L 55870 broad.mit.edu 37 1 155450917 155450917 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155450917G>A ENST00000368346.3 - 3 2383 c.1744C>T c.(1744-1746)Cca>Tca p.P582S ASH1L_ENST00000392403.3_Missense_Mutation_p.P582S Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 582 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAAAGTAATGGATTAGGAGCC 0.403000 21 56 0 0 0.008871 0 0 LCMT1 51451 broad.mit.edu 37 16 25172473 25172473 + Nonsense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:25172473C>T ENST00000399069.3 + 6 672 c.517C>T c.(517-519)Cga>Tga p.R173* LCMT1_ENST00000380966.4_Intron|LCMT1_ENST00000572869.1_3'UTR NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 173 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) AGCAGATCTCCGAGACCTGTC 0.348000 5 7 0 0 0.000602 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969478 5969478 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:5969478G>A ENST00000284898.6 - 18 1755 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P510S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P323S|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P519S NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 519 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTGCCGAGGGGAAGGTCCCGA 0.612000 39 42 0 0 0.005524 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526002 176526002 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:176526002G>A ENST00000367662.3 + 2 1708 c.544G>A c.(544-546)Gaa>Aaa p.E182K PAPPA2_ENST00000367661.3_Missense_Mutation_p.E182K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 182 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.E182K(2)|p.E182*(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AACCCTGAACGAACCCAAACC 0.587000 108 60 0 0 0.003610 0 0 GRM1 2911 broad.mit.edu 37 6 146480484 146480484 + Splice_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:146480484G>A ENST00000392299.2 + 3 1171 c.700_splice c.e3-1 p.G234_splice GRM1_ENST00000507907.1_Splice_Site_p.G234_splice|GRM1_ENST00000361719.2_Splice_Site_p.G234_splice|GRM1_ENST00000492807.2_Splice_Site_p.G234_splice|GRM1_ENST00000355289.4_Splice_Site_p.G234_splice|GRM1_ENST00000282753.1_Splice_Site_p.G234_splice Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 234 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTCTGGACAGGGAATTATGGG 0.478000 39 17 0 0 0.002522 0 0 CLK2 1196 broad.mit.edu 37 1 155239385 155239385 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:155239385G>A ENST00000368361.4 - 3 608 c.293C>T c.(292-294)tCc>tTc p.S98F CLK2_ENST00000536801.1_Missense_Mutation_p.S98F|CLK2_ENST00000361168.5_Missense_Mutation_p.S98F|CLK2_ENST00000355560.4_Missense_Mutation_p.S97F P49760 CLK2_HUMAN CDC-like kinase 2 98 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATATTCATAGGAATGCCGATA 0.587000 Other conserved DNA damage response genes 123 91 0 0 0.003610 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794861 18794861 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:18794861C>T ENST00000377428.2 + 1 492 c.402C>T c.(400-402)ttC>ttT p.F134F C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 CCGGAAAGTTCAAAGTGAGTG 0.463000 27 40 0 0 0.007291 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291413 141291413 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:141291413C>T ENST00000247452.3 - 3 708 c.361G>A c.(361-363)Ggg>Agg p.G121R NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 121 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GTATCCTCCCCTTTCTGGCTG 0.547000 HNSCC(46;0.14) 25 55 0 0 0.007291 0 0 KCNK9 51305 broad.mit.edu 37 8 140630676 140630676 + Missense_Mutation SNP G G T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:140630676G>T ENST00000520439.1 - 2 1013 c.950C>A c.(949-951)tCc>tAc p.S317Y KCNK9_ENST00000303015.1_Missense_Mutation_p.S317Y Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 317 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GGCGCTGAAGGAGTTCTGCGG 0.592000 23 83 1.50039e-11 1.66576e-11 0.001882 1 0 PRLR 5618 broad.mit.edu 37 5 35065416 35065416 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:35065416C>T ENST00000382002.5 - 10 2070 c.1644G>A c.(1642-1644)aaG>aaA p.K548K PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.K447K|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000342362.5_Silent_p.K447K|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 548 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCCCGGACACCTTGGCATACT 0.493000 35 26 0 0 0.003755 0 0 EPCAM 4072 broad.mit.edu 37 2 47606944 47606944 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:47606944G>A ENST00000263735.4 + 7 1052 c.694G>A c.(694-696)Gac>Aac p.D232N EPCAM_ENST00000405271.1_Missense_Mutation_p.D260N NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 232 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TAAGAAAATGGACCTGACAGT 0.343000 23 36 0 0 0.003954 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572100 76572100 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:76572100C>T ENST00000307431.8 + 20 3465 c.3080C>T c.(3079-3081)gCt>gTt p.A1027V CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A1031V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A979V|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A955V NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1028 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGCTCCCACGCTGCTTCATTT 0.363000 21 28 0 0 0.008871 0 0 SMCHD1 23347 broad.mit.edu 37 18 2688675 2688675 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:2688675C>T ENST00000320876.6 + 7 1141 c.803C>T c.(802-804)tCt>tTt p.S268F RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S268F NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 268 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CTTGTGCTTTCTAAAGAAGAT 0.279000 6 4 0 0 0.004482 0 0 FBXW10 10517 broad.mit.edu 37 17 18653121 18653121 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:18653121G>A ENST00000308799.4 + 3 976 c.757G>A c.(757-759)Gat>Aat p.D253N FBXW10_ENST00000301938.4_Missense_Mutation_p.D253N|FBXW10_ENST00000395667.1_Missense_Mutation_p.D253N|FBXW10_ENST00000395665.4_Missense_Mutation_p.D253N Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 253 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GCCAGGGTACGATCCCTGCAA 0.483000 57 124 0 0 0.003610 0 0 UBE3B 89910 broad.mit.edu 37 12 109926454 109926454 + Nonsense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:109926454G>A ENST00000342494.3 + 7 1120 c.525G>A c.(523-525)tgG>tgA p.W175* UBE3B_ENST00000340074.5_Nonsense_Mutation_p.W175*|UBE3B_ENST00000280774.5_Nonsense_Mutation_p.W175*|UBE3B_ENST00000540230.1_Nonsense_Mutation_p.W175*|UBE3B_ENST00000434735.2_Nonsense_Mutation_p.W175*|UBE3B_ENST00000537063.1_Nonsense_Mutation_p.W175*|UBE3B_ENST00000536398.1_Nonsense_Mutation_p.W175* NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 175 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTTCAACGTGGAAAATTCTTC 0.458000 88 133 0 0 0.003610 0 0 DENND5A 23258 broad.mit.edu 37 11 9225655 9225655 + Silent SNP G G A rs146129513 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:9225655G>A ENST00000328194.3 - 4 821 c.501C>T c.(499-501)ccC>ccT p.P167P DENND5A_ENST00000530044.1_Silent_p.P167P NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 167 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CATCAGCAGGGGGAGCATGTA 0.512000 22 43 0 0 0.001523 0 0 VSIG1 340547 broad.mit.edu 37 X 107320491 107320491 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:107320491G>A ENST00000415430.3 + 8 1313 c.1152G>A c.(1150-1152)ctG>ctA p.L384L VSIG1_ENST00000217957.5_Silent_p.L348L NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 348 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 ACATCGAGCTGGAGCTGGAGC 0.567000 26 30 0 0 0.003330 0 0 SNX13 23161 broad.mit.edu 37 7 17833866 17833866 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:17833866G>A ENST00000428135.3 - 26 2875 c.2677C>T c.(2677-2679)Cgt>Tgt p.R893C SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR NM_015132.4 NP_055947.1 Q9Y5W8 SNX13_HUMAN sorting nexin 13 904 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TCAAAAACACGAAGAATACCT 0.363000 11 18 0 0 0.008291 0 0 ITGAM 3684 broad.mit.edu 37 16 31336029 31336029 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:31336029G>A ENST00000544665.3 + 18 2289 c.2218G>A c.(2218-2220)Gga>Aga p.G740R ITGAM_ENST00000287497.8_Missense_Mutation_p.G739R NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 739 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CTCTCTGGTGGGAACGCCATT 0.587000 10 21 0 0 0.001368 0 0 ADAM32 203102 broad.mit.edu 37 8 39027493 39027493 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:39027493C>T ENST00000379907.4 + 10 1019 c.892C>T c.(892-894)Cgt>Tgt p.R298C ADAM32_ENST00000519315.1_Missense_Mutation_p.R298C|ADAM32_ENST00000437682.2_Missense_Mutation_p.R305C NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 298 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.R297S(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GTGTATTACTCGTTATTCTGC 0.254000 18 38 0 0 0.003330 0 0 KCNH8 131096 broad.mit.edu 37 3 19559536 19559536 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:19559536C>T ENST00000328405.2 + 15 2855 c.2589C>T c.(2587-2589)acC>acT p.T863T NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 863 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CAGAGGAGACCAAGCAGCAGA 0.408000 41 32 0 0 0.006999 0 0 GPR115 221393 broad.mit.edu 37 6 47682091 47682091 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:47682091C>T ENST00000283303.2 + 6 1368 c.1110C>T c.(1108-1110)atC>atT p.I370I GPR115_ENST00000371220.1_Silent_p.I427I|GPR115_ENST00000327753.3_Silent_p.I370I NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 370 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGTTGGATATCAGGAACGAAG 0.458000 38 28 0 0 0.004289 0 0 DPRX 503834 broad.mit.edu 37 19 54140083 54140083 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:54140083C>T ENST00000376650.1 + 3 468 c.417C>T c.(415-417)gtC>gtT p.V139V NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 139 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) ACCTCAAGGTCCCTGCAAATG 0.527000 60 187 0 0 0.003610 0 0 VCPIP1 80124 broad.mit.edu 37 8 67577418 67577418 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:67577418G>A ENST00000310421.4 - 1 2034 c.1776C>T c.(1774-1776)ttC>ttT p.F592F NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 592 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) AAGTAATAGGGAAAGCTTCTG 0.393000 32 52 0 0 0.002096 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795544 142795544 + Missense_Mutation SNP T T A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:142795544T>A ENST00000370498.1 - 2 887 c.134A>T c.(133-135)aAa>aTa p.K45I NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 45 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCTATTGTTTTTGTCTTTTG 0.413000 26 43 0 0 0.004656 0 0 ROBO4 54538 broad.mit.edu 37 11 124757060 124757060 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124757060G>A ENST00000306534.3 - 15 2733 c.2248C>T c.(2248-2250)Ccc>Tcc p.P750S RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.P605S NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 750 Pro/Ser-rich. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ATGGGGATGGGGGCTGCTGGC 0.637000 41 42 0 0 0.006999 0 0 PDE9A 5152 broad.mit.edu 37 21 44151975 44151975 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr21:44151975G>A ENST00000291539.6 + 5 418 c.358G>A c.(358-360)Gaa>Aaa p.E120K PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398225.3_Missense_Mutation_p.E79K|PDE9A_ENST00000328862.6_Missense_Mutation_p.E94K|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.E53K|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000349112.3_Intron NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 120 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GCCCCGGAGGGAAGGAGCATT 0.622000 19 39 0 0 0.008871 0 0 C6 729 broad.mit.edu 37 5 41158798 41158798 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:41158798G>A ENST00000263413.3 - 13 2210 c.1946C>T c.(1945-1947)cCt>cTt p.P649L C6_ENST00000337836.5_Missense_Mutation_p.P649L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 649 C5b-binding domain.|Sushi 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTTTCTGGAGGAACTGGCTG 0.398000 22 25 0 0 0.003954 0 0 HTT 3064 broad.mit.edu 37 4 3210615 3210615 + Missense_Mutation SNP C C G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr4:3210615C>G ENST00000355072.5 + 46 6413 c.6268C>G c.(6268-6270)Ctg>Gtg p.L2090V NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2090 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCACGTGTCACTGGAAACAGT 0.582000 7 9 0 0 0.003080 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616293 77616293 + Translation_Start_Site SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr8:77616293G>A ENST00000521891.2 + 0 418 ZFHX4_ENST00000518282.1_De_novo_Start_InFrame|ZFHX4_ENST00000050961.6_De_novo_Start_InFrame|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_De_novo_Start_InFrame NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGACAGGCTGGATGAAATGAG 0.433000 HNSCC(33;0.089) 10 7 0 0 0.006214 0 0 SOGA1 140710 broad.mit.edu 37 20 35467644 35467644 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr20:35467644G>A ENST00000237536.4 - 2 1229 c.888C>T c.(886-888)atC>atT p.I296I SOGA1_ENST00000279034.5_Silent_p.I58I|SOGA1_ENST00000357779.3_Silent_p.I58I NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 58 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCAGACCACGGATAAGCTCGC 0.657000 42 71 0 0 0.003610 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570536 47570536 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:47570536G>A ENST00000253048.5 - 15 3026 c.2989C>T c.(2989-2991)Ccc>Tcc p.P997S ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 997 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCGGGCACGGGGGGCACTGCG 0.736000 35 138 0 0 0.003755 0 0 LRP6 4040 broad.mit.edu 37 12 12311842 12311842 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:12311842G>A ENST00000261349.4 - 12 2788 c.2712C>T c.(2710-2712)tgC>tgT p.C904C LRP6_ENST00000543091.1_Silent_p.C904C NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 904 EGF-like 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCACAGCCAAGCAGAGGTGGG 0.507000 171 307 0 0 0.003610 0 0 QRICH1 54870 broad.mit.edu 37 3 49083867 49083867 + Nonsense_Mutation SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:49083867A>T ENST00000395443.2 - 5 2134 c.1662T>A c.(1660-1662)tgT>tgA p.C554* QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Nonsense_Mutation_p.C554*|QRICH1_ENST00000424300.1_Nonsense_Mutation_p.C554* NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 554 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CCTTTTGAATACACAGGAAAA 0.388000 33 43 0 0 0.003271 0 0 CNTN5 53942 broad.mit.edu 37 11 99932099 99932099 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:99932099C>T ENST00000524871.1 + 10 1426 c.1136C>T c.(1135-1137)tCc>tTc p.S379F CNTN5_ENST00000528682.1_Missense_Mutation_p.S379F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S379F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S305F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S379F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 379 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGAAAAAATTCCTTTCGTGGA 0.408000 22 27 0 0 0.001882 0 0 IGHA1 3493 broad.mit.edu 37 14 106173562 106173562 + RNA SNP T T C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:106173562T>C ENST00000390547.2 - 0 1004 CATGGGTGGGTTTACCCGCCA 0.627000 12 77 0 0 0.001368 0 0 PHKA2 5256 broad.mit.edu 37 X 18911701 18911701 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:18911701C>T ENST00000379942.4 - 33 4275 c.3610G>A c.(3610-3612)Gct>Act p.A1204T PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1204 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CCACTCGGAGCGCTGTCATAA 0.522000 153 107 0 0 0.003610 0 0 AURKB 9212 broad.mit.edu 37 17 8108286 8108286 + Missense_Mutation SNP G G A rs144169786 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:8108286G>A ENST00000316199.6 - 9 1018 c.941C>T c.(940-942)tCg>tTg p.S314L AURKB_ENST00000578549.1_Missense_Mutation_p.S281L|AURKB_ENST00000585124.1_Missense_Mutation_p.S313L|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.S272L Q96GD4 AURKB_HUMAN aurora kinase B 313 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|lung(2) 4 CAGCCGTTCCGAGGGGTTATG 0.632000 15 26 0 0 0.003163 0 0 OR52L1 338751 broad.mit.edu 37 11 6007845 6007845 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:6007845G>A ENST00000332249.4 - 1 370 c.316C>T c.(316-318)Cat>Tat p.H106Y NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCGTGGGCATGAACCAGGAGC 0.547000 14 14 0 0 0.004007 0 0 TBX18 9096 broad.mit.edu 37 6 85446847 85446847 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:85446847C>T ENST00000369663.5 - 8 1717 c.1380G>A c.(1378-1380)gtG>gtA p.V460V TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 460 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TGCTGCTGCTCACGCCCACAT 0.577000 36 40 0 0 0.003755 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540572 169540572 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:169540572G>A ENST00000340806.6 + 1 863 c.863G>A c.(862-864)gGa>gAa p.G288E NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 288 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 CTCTACCTGGGAAACACCGGC 0.627000 19 7 0 0 0.003330 0 0 DHX38 9785 broad.mit.edu 37 16 72142723 72142723 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr16:72142723C>T ENST00000268482.3 + 24 3789 c.3280C>T c.(3280-3282)Cgc>Tgc p.R1094C DHX38_ENST00000536867.1_Missense_Mutation_p.R406C NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 1094 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CGTGAACATCCGCACAGGGAT 0.542000 9 17 0 0 0.004482 0 0 COL1A2 1278 broad.mit.edu 37 7 94030901 94030901 + Missense_Mutation SNP G G A rs74315131 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr7:94030901G>A ENST00000297268.6 + 6 719 c.248G>A c.(247-249)gGa>gAa p.G83E NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 83 Missing (in EDS7B). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAGTATGATGGAAAAGGAGTT 0.279000 HNSCC(75;0.22) 37 61 0 0 0.003214 0 0 SAPCD2 89958 broad.mit.edu 37 9 139960001 139960001 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr9:139960001G>A ENST00000409687.3 - 3 931 c.804C>T c.(802-804)cgC>cgT p.R268R NM_178448.3 NP_848543.2 Q86UD0 CI140_HUMAN suppressor APC domain containing 2 268 cytoplasm|nucleus GGCCCAGGCGGCGCTGGCGCT 0.677000 23 6 0 0 0.002780 0 0 DCHS1 8642 broad.mit.edu 37 11 6648377 6648377 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:6648377G>A ENST00000299441.3 - 14 6304 c.5893C>T c.(5893-5895)Ctg>Ttg p.L1965L NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1965 Cadherin 19. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGTAGGCGCAGAGGACTGGTG 0.617000 43 74 0 0 0.003610 0 0 EP300 2033 broad.mit.edu 37 22 41551054 41551054 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr22:41551054C>T ENST00000263253.7 + 17 4417 c.3198C>T c.(3196-3198)taC>taT p.Y1066Y NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1066 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGGCACTTTACCGTCAGGATC 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 81 117 0 0 0.003610 0 0 MYO5B 4645 broad.mit.edu 37 18 47390533 47390533 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:47390533C>T ENST00000285039.7 - 28 4120 c.3821G>A c.(3820-3822)cGg>cAg p.R1274Q MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.R415Q NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1274 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) GGCGAGTCGCCGCTGGTCGGC 0.612000 24 37 0 0 0.003954 0 0 NPHS1 4868 broad.mit.edu 37 19 36333452 36333452 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:36333452C>T ENST00000378910.5 - 18 2334 c.2334_splice c.e18-1 p.G779_splice NPHS1_ENST00000353632.6_Splice_Site_p.G779_splice NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 779 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane p.G779*(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCATCTTCTCCCTGGAGGCCC 0.572000 24 97 0 0 0.002299 0 0 ZBED2 79413 broad.mit.edu 37 3 111312403 111312403 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr3:111312403G>A ENST00000317012.4 - 2 1654 c.646C>T c.(646-648)Cat>Tat p.H216Y CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 216 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 TAAACAAAATGGAAGGGATGT 0.453000 14 22 0 0 0.004007 0 0 RERE 473 broad.mit.edu 37 1 8416175 8416175 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:8416175G>A ENST00000337907.3 - 22 5105 c.4471C>T c.(4471-4473)Cgc>Tgc p.R1491C RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.R1491C|RERE_ENST00000377464.1_Missense_Mutation_p.R1223C|RERE_ENST00000476556.1_Missense_Mutation_p.R937C NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1491 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ACTGGGTGGCGAAGCATCTCG 0.632000 84 105 0 0 0.003610 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 5 40 0 0 0.001168 0 0 HBBP1 3044 broad.mit.edu 37 11 5264433 5264433 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:5264433C>T ENST00000454892.1 - 0 63 NR_001589.1 AACAGCTTTTCCGAAGGAGAT 0.493000 15 15 0 0 0.004990 0 0 DEDD 9191 broad.mit.edu 37 1 161092179 161092179 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:161092179G>A ENST00000392188.1 - 6 1039 c.805C>T c.(805-807)Cgg>Tgg p.R269W DEDD_ENST00000545495.1_Missense_Mutation_p.R239W|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.R239W|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Missense_Mutation_p.R239W|DEDD_ENST00000368005.1_Missense_Mutation_p.R269W O75618 DEDD_HUMAN death effector domain containing 239 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCCAGGTCCCGGGACTTGAGG 0.522000 51 55 0 0 0.003610 0 0 F8 2157 broad.mit.edu 37 X 154215554 154215554 + Missense_Mutation SNP T T A rs5987076 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:154215554T>A ENST00000360256.4 - 5 828 c.628A>T c.(628-630)Acc>Tcc p.T210S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 210 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTGTGCAAGGTCTGTGTCTTT 0.343000 19 27 0 0 0.008871 0 0 OR8B8 26493 broad.mit.edu 37 11 124310277 124310277 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:124310277G>A ENST00000328064.2 - 1 777 c.705C>T c.(703-705)tcC>tcT p.S235S NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGAAGGCTTTGGACCTGCCCT 0.468000 46 53 0 0 0.003610 0 0 FOXR2 139628 broad.mit.edu 37 X 55650562 55650562 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:55650562C>T ENST00000339140.3 + 1 730 c.418C>T c.(418-420)Cct>Tct p.P140S NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 140 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TGAGCAGTCTCCTTTACAGAA 0.517000 21 30 0 0 0.002299 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093384 30093384 + RNA SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:30093384C>T ENST00000567636.1 + 0 1759 NR_003558.1 GGATCTGCCCCCCTGGGCTTT 0.498000 14 26 0 0 0.001855 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282858 69282858 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chrX:69282858G>A ENST00000338352.2 + 1 518 c.484G>A c.(484-486)Gtg>Atg p.V162M NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 162 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 AGACCAGCTGGTGTTCAGCGT 0.632000 9 7 0 0 0.004482 0 0 HSD17B14 51171 broad.mit.edu 37 19 49335008 49335008 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:49335008G>A ENST00000263278.4 - 5 552 c.286C>T c.(286-288)Cca>Tca p.P96S HSD17B14_ENST00000599157.1_Intron NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 96 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) GGCCTCTGTGGGGGTGGGTCT 0.622000 117 48 0 0 0.003610 0 0 PRDM1 639 broad.mit.edu 37 6 106552701 106552701 + Splice_Site SNP A A T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:106552701A>T ENST00000369096.4 + 5 900 c.664_splice c.e5-1 p.T222_splice PRDM1_ENST00000369089.3_Splice_Site_p.T88_splice|PRDM1_ENST00000369091.2_Splice_Site_p.T186_splice NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 222 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T186fs*9(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TTATTTCAGCACAAACACAGA 0.428000 """D, N, Mis, F, S""" DLBCL 76 117 0 0 0.003610 0 0 CDH19 28513 broad.mit.edu 37 18 64172126 64172126 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr18:64172126C>T ENST00000262150.2 - 12 2534 c.2242G>A c.(2242-2244)Gat>Aat p.D748N NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 748 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTAAGGTAATCATAGCTTTCA 0.413000 20 25 0 0 0.007413 0 0 AP1M1 8907 broad.mit.edu 37 19 16318952 16318952 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:16318952C>T ENST00000291439.3 + 4 839 c.390C>T c.(388-390)atC>atT p.I130I AP1M1_ENST00000444449.2_Silent_p.I130I|AP1M1_ENST00000541844.1_Silent_p.I58I|AP1M1_ENST00000590756.1_Silent_p.I58I|AP1M1_ENST00000429941.2_Silent_p.I130I NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 130 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 ACAGCAAGATCCTGCAGGAGT 0.592000 18 43 0 0 0.007413 0 0 HTR7 3363 broad.mit.edu 37 10 92509351 92509351 + Splice_Site SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr10:92509351C>T ENST00000371721.3 - 2 782 c.539_splice c.e2-1 p.R180_splice HTR7_ENST00000371719.2_Splice_Site_p.R180_splice|HTR7_ENST00000336152.3_Splice_Site_p.R180_splice|HTR7_ENST00000277874.6_Splice_Site_p.R180_splice P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 180 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TCCCAAGGTACCTAGTGGAGA 0.532000 28 8 0 0 0.005443 0 0 LRP1B 53353 broad.mit.edu 37 2 141773412 141773412 + Missense_Mutation SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr2:141773412C>T ENST00000389484.3 - 13 3014 c.2043G>A c.(2041-2043)atG>atA p.M681I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 681 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAATCCATCCATCCAGGCCT 0.418000 TSP Lung(27;0.18) 19 37 0 0 0.002299 0 0 CD101 9398 broad.mit.edu 37 1 117560848 117560848 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:117560848C>T ENST00000256652.4 + 6 1741 c.1683C>T c.(1681-1683)tcC>tcT p.S561S CD101_ENST00000369470.1_Silent_p.S561S NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 561 Ig-like C2-type 5. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTGACCTGTCCTGTGTCGTGA 0.478000 14 17 0 0 0.004007 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072568 34072568 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr17:34072568G>A ENST00000254466.6 - 6 1975 c.1948C>T c.(1948-1950)Cct>Tct p.P650S GAS2L2_ENST00000587565.1_Missense_Mutation_p.P634S NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 650 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTGTCATAAGGACCCCCAGGC 0.632000 84 97 0 0 0.003610 0 0 RYR2 6262 broad.mit.edu 37 1 237798220 237798220 + Silent SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:237798220G>A ENST00000366574.2 + 44 7037 c.6720G>A c.(6718-6720)ctG>ctA p.L2240L RYR2_ENST00000542537.1_Silent_p.L2224L|RYR2_ENST00000360064.6_Silent_p.L2238L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2240 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACACCACTGGATGTGGCTG 0.423000 7 16 0 0 0.003080 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751468 140751468 + Missense_Mutation SNP T T G TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr5:140751468T>G ENST00000576222.1 + 1 1638 c.1507T>G c.(1507-1509)Tcc>Gcc p.S503A PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGTCGTCCTACGTGTC 0.652000 37 37 0 0 0.004289 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073478 74073478 + Silent SNP C C T TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:74073478C>T ENST00000370367.3 + 3 602 c.549C>T c.(547-549)ctC>ctT p.L183L NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member AGCAGTCTCTCCAGGCTGCCA 0.667000 23 20 0 0 0.003330 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 9 43 --- --- --- --- OR2T29 343563 broad.mit.edu 37 1 248722428 248722429 + Frame_Shift_Ins INS - - CG TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr1:248722428_248722429insCG ENST00000328570.3 - 1 368_369 c.364_365insCG c.(364-366)ggcfs p.G122fs RP11-438F14.3_ENST00000438623.1_RNA NM_001004694.2 NP_001004694.2 Q8NH02 O2T29_HUMAN olfactory receptor, family 2, subfamily T, member 29 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|lung(4) 5 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTCATAGGCCATGGTGGCTAGA 0.540 3 4 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 9 38 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 6 10 --- --- --- --- TYR 7299 broad.mit.edu 37 11 88911404 88911412 + In_Frame_Del DEL TTCATGGGA TTCATGGGA - rs61753252 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr11:88911404_88911412delTTCATGGGA ENST00000263321.5 + 1 785_793 c.283_291delTTCATGGGA c.(283-291)del p.FMG95del TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 95 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CTCTGGCAACTTCATGGGATTCAACTGTG 0.507 12 32 --- --- --- --- IGHV4-28 28400 broad.mit.edu 37 14 106780957 106780957 + RNA DEL G G - rs34740110 TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr14:106780957delG ENST00000390612.2 - 0 60 TTCTTGCACAGGAGGTCCAGG 0.502 9 26 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0385fffc-6192-4326-890f-7d3c4f112482 e31a8373-dfc6-4910-8045-be33cfe544c2 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 7 63 --- --- --- ---