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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ABCA12 26154 broad.mit.edu 37 2 215818782 215818782 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:215818782G>A uc002vew.3 - 43 6663 c.6443C>T c.(6442-6444)cCa>cTa p.P2148L ABCA12_uc002vev.3_Missense_Mutation_p.P1830L|ABCA12_uc010zjn.2_Missense_Mutation_p.P1075L NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2148 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAGAATTGTGGGAAAATCAG 0.348000 67 5 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178564851 178564851 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:178564851C>T uc003mjw.3 - 11 1972 c.1870G>A c.(1870-1872)Gag>Aag p.E624K NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 624 Cys-rich. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.E624A(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CACTGCTCCTCGCGGAAGTCA 0.706000 2 5 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27240186 27240186 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:27240186C>T uc001bnf.3 - 0 382 c.246G>A c.(244-246)caG>caA p.Q82Q BC016143_uc021ojq.1_Intron NM_021969 NP_068804 Q15466 NR0B2_HUMAN Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA. 82 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCCGCTGGTCCTGGGGAGGCA 0.647000 17 14 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128977626 128977626 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:128977626G>A uc003kvb.1 + 10 1827 c.1827G>A c.(1825-1827)atG>atA p.M609I ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 609 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ACCCACCAATGGATGGAACTG 0.393000 28 18 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61290703 61290703 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:61290703C>T uc001nrv.3 - 7 1003 c.951G>A c.(949-951)gtG>gtA p.V317V SYT7_uc009ynr.3_Silent_p.V392V NM_004200 NP_004191 O43581 SYT7_HUMAN Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA. 317 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCTTCTTCTCCACCCGCTTGT 0.562000 39 30 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 45088459 45088459 + Splice_Site SNP G C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:45088459G>C uc001clv.1 + 4 1164 c.804_splice c.e4+1 p.K268_splice RNF220_uc001clw.1_Splice_Site_p.K268_splice|RNF220_uc010okx.1_Splice_Site_p.K29_splice|RNF220_uc010oky.1_Splice_Site_p.K29_splice NM_018150 NP_060620 Q5VTB9 RN220_HUMAN Homo sapiens ring finger protein 220 (RNF220), mRNA. 268 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 GCACCCCAAAGGTAGGTGGCC 0.502000 39 25 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57182141 57182141 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:57182141C>T uc010rjr.2 - 10 1388 c.1046G>A c.(1045-1047)gGc>gAc p.G349D SLC43A3_uc001nke.3_Missense_Mutation_p.G235D|SLC43A3_uc001nkg.3_Missense_Mutation_p.G336D|SLC43A3_uc001nkh.3_Missense_Mutation_p.G336D|SLC43A3_uc009yme.3_Missense_Mutation_p.G336D|SLC43A3_uc001nki.3_Missense_Mutation_p.G336D|SLC43A3_uc009ymf.1_Missense_Mutation_p.G336D NM_199329 NP_955361 Q8NBI5 S43A3_HUMAN Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA. 336 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CATGAGCAGGCCATTCCAGGG 0.547000 114 78 0 0 1 0 0 BCL2L10 10017 broad.mit.edu 37 15 52404609 52404609 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:52404609C>T uc002abq.3 - 0 364 c.315G>A c.(313-315)ggG>ggA p.G105G NM_020396 NP_065129 Q9HD36 B2L10_HUMAN Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA. 95 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) CCAGCAGCGTCCCTGCGAAGG 0.701000 12 9 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447030 226447030 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:226447030C>T uc002voe.2 + 3 1072 c.897C>T c.(895-897)ccC>ccT p.P299P NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.P69P NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 299 GTGCTACTCCCACGGTGCCTG 0.572000 25 28 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 40999866 40999866 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:40999866C>T uc003jmj.4 - 39 4988 c.4498G>A c.(4498-4500)Gaa>Aaa p.E1500K HEATR7B2_uc003jmi.4_Missense_Mutation_p.E1055K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 1500 binding p.Q1499H(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 CACAGAATTTCCTGGTTTTTC 0.473000 48 21 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74487084 74487084 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:74487084C>T uc002fcx.3 - 25 3571 c.3521G>A c.(3520-3522)cGa>cAa p.R1174Q GLG1_uc002fcw.4_Missense_Mutation_p.R1163Q|GLG1_uc002fcy.4_Missense_Mutation_p.R1174Q|GLG1_uc002fcz.4_Missense_Mutation_p.R591Q NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 1174 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CTTGAGCTCTCGTGTCACTCG 0.502000 51 37 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1426855 1426855 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:1426855G>A uc002qwr.3 + 2 219 c.133G>A c.(133-135)Gaa>Aaa p.E45K TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E45K|TPO_uc002qww.3_Missense_Mutation_p.E45K|TPO_uc002qwx.3_Missense_Mutation_p.E45K|TPO_uc002qwu.3_Missense_Mutation_p.E45K|TPO_uc010yio.2_Missense_Mutation_p.E45K|TPO_uc010yip.2_Missense_Mutation_p.E45K NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 45 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGTCTTGGAGGAAAGCAAGCG 0.587000 24 16 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3984759 3984759 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:3984759G>A uc002fxe.3 - 17 2804 c.2740C>T c.(2740-2742)Ctt>Ttt p.L914F ZZEF1_uc002fxk.1_Missense_Mutation_p.L915F NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 914 calcium ion binding|zinc ion binding p.L914delL(2) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TCAGGTAAAAGAAGAAGGCCG 0.448000 41 44 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22890661 22890661 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:22890661C>T uc002zwf.3 - 4 1514 c.1358G>A c.(1357-1359)gGt>gAt p.G453D abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.G437D|PRAME_uc010gtr.3_Missense_Mutation_p.G453D|PRAME_uc002zwg.3_Missense_Mutation_p.G453D|PRAME_uc002zwh.3_Missense_Mutation_p.G453D|PRAME_uc002zwi.3_Missense_Mutation_p.G453D|PRAME_uc002zwj.3_Missense_Mutation_p.G453D|PRAME_uc002zwk.3_Missense_Mutation_p.G453D NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 453 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.G453V(2) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GTGGAGGGTACCATGGATGTC 0.587000 42 34 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62751472 62751472 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:62751472G>A uc001nwk.3 - 1 750 c.417C>T c.(415-417)tcC>tcT p.S139S SLC22A6_uc001nwl.3_Silent_p.S139S|SLC22A6_uc001nwj.3_Silent_p.S139S|SLC22A6_uc001nwm.3_Silent_p.S139S NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 139 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CCATGTACAAGGACTGGGCCA 0.617000 10 10 0 0 1 0 0 C18orf26 284254 broad.mit.edu 37 18 52265196 52265196 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:52265196C>T uc002lfq.1 + 2 499 c.453C>T c.(451-453)tcC>tcT p.S151S NM_173629 NP_775900 Q8N1N2 CR026_HUMAN Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA. 151 integral to membrane endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 11 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) TCCAGCTATCCACAAATGATG 0.448000 30 19 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107379976 107379976 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:107379976C>T uc011lvr.2 - 0 510 c.510G>A c.(508-510)agG>agA p.R170R NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R170R(2) breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TGACATTCTTCCTGCAGAAAG 0.448000 43 32 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94006333 94006333 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:94006333C>T uc011cdt.2 + 2 690 c.432C>T c.(430-432)ctC>ctT p.L144L GRID2_uc010ikx.3_Silent_p.L144L|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 144 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACTACACTCTCTCAGTTCGCC 0.488000 46 39 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940769 36940769 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:36940769C>T uc010xtf.2 - 4 505 c.370G>A c.(370-372)Gaa>Aaa p.E124K ZNF566_uc002oea.4_Missense_Mutation_p.E123K|ZNF566_uc010xte.2_Missense_Mutation_p.E123K|ZNF566_uc002oeb.4_Missense_Mutation_p.E123K|ZNF566_uc002oec.4_Missense_Mutation_p.E19K|ZNF566_uc010xtg.2_Missense_Mutation_p.E19K NM_001145343 NP_001138815 Q969W8 ZN566_HUMAN Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CGATTACATTCCCAATCATCT 0.403000 84 75 0 0 1 0 0 SUV420H2 84787 broad.mit.edu 37 19 55858523 55858523 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:55858523C>T uc002qkj.4 + 8 1343 c.1095C>T c.(1093-1095)caC>caT p.H365H SUV420H2_uc002qkl.3_Silent_p.H250H NM_032701 NP_116090 Q86Y97 SV422_HUMAN Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA. 365 Required for heterochromatin localization (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GTGGCCCCCACTGCCGCCTGC 0.781000 0 3 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2323331 2323331 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:2323331C>T uc002fut.3 - 9 1770 c.1622G>A c.(1621-1623)aGg>aAg p.R541K METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.R323K NM_024086 NP_076991 Q86W50 MET16_HUMAN Homo sapiens methyltransferase like 16 (METTL16), mRNA. 541 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 CATCAGATCCCTGTTCTGGCC 0.473000 66 4 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801424 148801424 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:148801424G>A uc003wfj.3 - 3 1672 c.1539C>T c.(1537-1539)ctC>ctT p.L513L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 513 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGTGCTGCGTGAGCCGCGACT 0.637000 89 12 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170784365 170784365 + Splice_Site SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:170784365C>T uc003fhh.2 - 31 4204 c.3859_splice c.e31+1 p.A1287_splice TNIK_uc003fhi.2_Splice_Site_p.A1232_splice|TNIK_uc003fhj.2_Splice_Site_p.A1258_splice|TNIK_uc003fhk.2_Splice_Site_p.A1279_splice|TNIK_uc003fhl.2_Splice_Site_p.A1203_splice|TNIK_uc003fhm.2_Splice_Site_p.A1224_splice|TNIK_uc003fhn.2_Splice_Site_p.A1250_splice|TNIK_uc003fho.2_Splice_Site_p.A1195_splice|TNIK_uc003fhg.2_Splice_Site_p.A465_splice|TNIK_uc003fhp.3_Missense_Mutation_p.G219S NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA. 1287 CNH. Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GTTAACCTACCCACAGACGTG 0.423000 4 20 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98823975 98823975 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:98823975G>A uc001kmw.2 - 6 831 c.579C>T c.(577-579)atC>atT p.I193I SLIT1_uc009xvh.1_Silent_p.I193I NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 193 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGATGGTGGTGATATTGTTGT 0.572000 2 11 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132730587 132730587 + Missense_Mutation SNP T A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:132730587T>A uc010nrn.2 - 7 1720 c.1523A>T c.(1522-1524)gAt>gTt p.D508V GPC3_uc004exe.2_Missense_Mutation_p.D485V|GPC3_uc011mvh.2_Missense_Mutation_p.D469V|GPC3_uc010nro.2_Missense_Mutation_p.D431V NM_001164617 NP_001158089 P51654 GPC3_HUMAN Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA. 485 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity p.G508G(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CAGGTTTTTATCCAGAACTCT 0.448000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 5 68 0 0 1 0 0 CUTA 51596 broad.mit.edu 37 6 33384521 33384521 + Missense_Mutation SNP A G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:33384521A>G uc003oej.1 - 5 734 c.446T>C c.(445-447)aTt>aCt p.I149T CUTA_uc003oen.1_Missense_Mutation_p.I168T|CUTA_uc003oem.1_Missense_Mutation_p.I126T|CUTA_uc003oek.1_Missense_Mutation_p.I126T|CUTA_uc003oel.1_Missense_Mutation_p.I126T NM_001014840 NP_057005 O60888 CUTA_HUMAN Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 5, mRNA. 149 protein localization|response to metal ion membrane enzyme binding SLC22A1/CUTA(2) kidney(1)|lung(3)|urinary_tract(1) 5 AGGCAATGCAATTACCTCGGC 0.517000 20 44 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645810 20645810 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:20645810G>A uc001ytg.3 - 19 2975 c.2266C>T c.(2266-2268)Ctc>Ttc p.L756F HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.L756F|HERC2P3_uc010tyy.2_Missense_Mutation_p.L756F Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGGGAGCTGAGGGTGCCGCAC 0.627000 34 8 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541349 28541349 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:28541349G>A uc003nlo.3 - 3 2935 c.2317C>T c.(2317-2319)Cca>Tca p.P773S NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 773 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.K772R(1)|p.K772I(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 agttttgatggtttcattgct 0.313000 12 7 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134093 128134093 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:128134093C>T uc011ebt.2 - 3 1842 c.1693G>A c.(1693-1695)Gaa>Aaa p.E565K THEMIS_uc010kfa.3_Missense_Mutation_p.E468K|THEMIS_uc021zfa.1_Missense_Mutation_p.E565K|THEMIS_uc010kfb.3_Missense_Mutation_p.E530K NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 565 T cell receptor signaling pathway|negative T cell selection|positive T cell selection cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AACTTTGTTTCCTCTACTGAG 0.483000 32 47 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16008252 16008252 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:16008252C>T uc002nbs.1 - 1 220 c.170G>A c.(169-171)cGg>cAg p.R57Q CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 57 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AAACCAGTTCCGTCTTGGGGG 0.617000 49 40 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113697977 113697977 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:113697977G>A uc001poh.3 - 10 1198 c.1165C>T c.(1165-1167)Cct>Tct p.P389S USP28_uc001pog.3_Missense_Mutation_p.P97S|USP28_uc010rwy.2_Missense_Mutation_p.P264S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P389S NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 389 DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ATAATCTGAGGAAATTCCAGC 0.393000 22 16 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46762942 46762942 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:46762942C>T uc003bhw.1 - 28 8153 c.8153G>A c.(8152-8154)gGg>gAg p.G2718E NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 2718 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGCTTCCTCCCGCCGAGCAC 0.697000 OREG0026655 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 9 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115337882 115337882 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:115337882C>T uc001lai.4 + 5 649 c.546C>T c.(544-546)ttC>ttT p.F182F HABP2_uc021pyr.1_Silent_p.F156F|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.S171L NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 182 EGF-like 3. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CCGACCAGTTCAAGGGGAAAT 0.552000 3 33 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174664 51174664 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:51174664C>T uc021tif.1 - 1 1500 c.1178G>A c.(1177-1179)gGg>gAg p.G393E SALL1_uc021tid.1_Missense_Mutation_p.G393E|SALL1_uc021tie.1_Missense_Mutation_p.G490E|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 490 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTTCAGATTCCCCTTGGTGGA 0.512000 68 30 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14159865 14159865 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:14159865C>T uc002mxx.3 + 8 1637 c.1214C>T c.(1213-1215)tCc>tTc p.S405F NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA. 405 Fibronectin type-III 2. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 GCCTCTGCATCCTCCGTCTGG 0.562000 OREG0025303 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 28 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25755615 25755615 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:25755615G>A uc001isj.3 + 4 1431 c.1371G>A c.(1369-1371)acG>acA p.T457T NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 457 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTTGGAAACGATCCTTTTTG 0.338000 3 13 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233923 61233923 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:61233923C>T uc010xeo.2 + 6 957 c.957C>T c.(955-957)ttC>ttT p.F319F SERPINB12_uc010xen.2_Silent_p.F299F NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 299 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TCCTGTCCTTCCCCCGGTTCA 0.448000 87 70 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430364 10430364 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:10430364G>A uc010coi.3 - 28 4009 c.3881C>T c.(3880-3882)tCa>tTa p.S1294L AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1294L|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1294 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.F1293V(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AAGCTGGCGTGAAAACTCACC 0.388000 15 26 0 0 1 0 0 C10orf67 256815 broad.mit.edu 37 10 23611456 23611456 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:23611456G>A uc010qcx.2 - 2 407 c.341C>T c.(340-342)tCc>tTc p.S114F NM_153714 NP_714925 Q8IYJ2 CJ067_HUMAN Homo sapiens chromosome 10 open reading frame 67 (C10orf67), mRNA. 114 central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 TACCTGGAGGGATTTCATCAT 0.393000 1 11 0 0 1 0 0 MRAP2 112609 broad.mit.edu 37 6 84772692 84772692 + Missense_Mutation SNP A T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:84772692A>T uc003pkg.4 + 2 398 c.208A>T c.(208-210)Aca>Tca p.T70S MRAP2_uc010kbo.3_Intron NM_138409 NP_612418 Q96G30 MRAP2_HUMAN Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA. 70 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 19 GCTGACCAAGACAGGAGCCCC 0.448000 12 16 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6675298 6675298 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:6675298G>A uc021qtw.1 - 4 611 c.431C>T c.(430-432)tCc>tTc p.S144F NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.S144F|NOP2_uc021qty.1_Missense_Mutation_p.S148F|NOP2_uc021qtz.1_Missense_Mutation_p.S148F|NOP2_uc021qua.1_Missense_Mutation_p.S148F NM_001033714 NP_006161 P46087 NOP2_HUMAN Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA. 148 positive regulation of cell proliferation|rRNA processing nucleolus RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CTCAGAGTTGGAGTCAGCTCC 0.493000 12 8 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234238158 234238158 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:234238158C>T uc002vuh.2 + 8 1056 c.668C>T c.(667-669)cCc>cTc p.P223L SAG_uc010zmq.1_Missense_Mutation_p.P89L NM_000541 NP_000532 P10523 ARRS_HUMAN Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA. 223 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CATGGGGAGCCCATCCCTGTG 0.448000 12 12 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 24664 24664 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrGL000241.1:24664G>A uc011mgv.2 - 4 c.549C>T Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. TTTGACAGCCGTAAACTGCTC 0.289000 31 5 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569936 22569936 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:22569936G>A uc003nds.3 + 0 259 c.132G>A c.(130-132)ggG>ggA p.G44G NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA. 44 PWWP. kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) TTTTCTTCGGGACCCACGAGA 0.607000 27 38 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41496209 41496209 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:41496209G>A uc002yyq.1 - 19 4061 c.3609C>T c.(3607-3609)tcC>tcT p.S1203S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1203 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding 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) CAAAGACCATGGAGGCTGAGG 0.572000 116 12 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31816005 31816005 + Missense_Mutation SNP A G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:31816005A>G uc001ivs.4 + 8 3251 c.3188A>G c.(3187-3189)gAg>gGg p.E1063G ZEB1_uc001ivr.4_Missense_Mutation_p.E845G|ZEB1_uc010qef.2_Missense_Mutation_p.E845G|ZEB1_uc001ivu.4_Missense_Mutation_p.E1064G|ZEB1_uc010qeh.2_Missense_Mutation_p.E996G|ZEB1_uc001ivv.4_Missense_Mutation_p.E1043G|ZEB1_uc001ivt.4_Missense_Mutation_p.E845G|ZEB1_uc009xlo.2_Missense_Mutation_p.E1046G|ZEB1_uc009xlp.3_Missense_Mutation_p.E1047G NM_030751 NP_110378 P37275 ZEB1_HUMAN Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA. 1063 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) caaggggatgaggaagaggag 0.448000 0 5 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122460008 122460008 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:122460008G>A uc004etq.4 + 3 932 c.640G>A c.(640-642)Gaa>Aaa p.E214K GRIA3_uc004etr.4_Missense_Mutation_p.E214K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E198K NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 214 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) CAGGAGGCAGGAAAAGCGATA 0.423000 5 45 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42041375 42041375 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:42041375C>T uc010ucy.2 + 16 5751 c.5570C>T c.(5569-5571)tCg>tTg p.S1857L MGA_uc010ucz.2_Missense_Mutation_p.S1648L|MGA_uc010uda.1_Missense_Mutation_p.S473L|MGA_uc001zoi.3_Missense_Mutation_p.S71L NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1818 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTTCCACTTCGTCCTCTGCT 0.443000 55 45 0 0 1 0 0 OR5B21 219968 broad.mit.edu 37 11 58275104 58275104 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:58275104C>T uc010rki.2 - 0 475 c.475G>A c.(475-477)Gca>Aca p.A159T NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA. 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A159E(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) AAGGTGCCTGCTGCATGGATA 0.502000 28 20 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77282747 77282747 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:77282747G>A uc004aji.3 + 7 1123 c.1074G>A c.(1072-1074)aaG>aaA p.K358K RORB_uc004ajh.3_Silent_p.K347K NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 358 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACTTTGCAAAGAATTTGTGTT 0.398000 50 34 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40939505 40939505 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:40939505G>A uc002ibj.3 + 6 1754 c.1686G>A c.(1684-1686)gaG>gaA p.E562E WNK4_uc010wgx.2_Silent_p.E226E|WNK4_uc002ibk.1_Silent_p.E334E|WNK4_uc010wgy.1_5'UTR NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 562 E -> K (in PHAII). intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity p.A562G(1) NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGGAGCCAGAGGCAGACCAGC 0.612000 79 70 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43623419 43623419 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:43623419G>A uc003bdt.2 - 9 1295 c.1168C>T c.(1168-1170)Ccg>Tcg p.P390S NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 390 EGF-like 9; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity p.P390Q(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CGCCTCCCCGGGGGACAGACG 0.667000 12 19 0 0 1 0 0 SMAP2 64744 broad.mit.edu 37 1 40881966 40881966 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:40881966C>T uc001cfj.3 + 7 1215 c.800C>T c.(799-801)tCc>tTc p.S267F SMAP2_uc010ojh.2_Missense_Mutation_p.S267F|SMAP2_uc001cfk.3_Missense_Mutation_p.S237F|SMAP2_uc021oma.1_Missense_Mutation_p.S262F|SMAP2_uc010oji.2_Missense_Mutation_p.S187F|SMAP2_uc010ojj.2_Missense_Mutation_p.S83F NM_022733 NP_001185909 Q8WU79 SMAP2_HUMAN Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA. 267 regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) TCTAAAGACTCCATTCTTTCA 0.498000 76 50 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77283442 77283442 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:77283442C>T uc003hkb.4 - 11 2010 c.1857G>A c.(1855-1857)aaG>aaA p.K619K NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 619 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GCTCCCGGATCTTTGCATCTT 0.393000 65 41 0 0 1 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111947816 111947816 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:111947816C>T uc004bdz.1 - 22 2666 c.2371G>A c.(2371-2373)Gaa>Aaa p.E791K NM_019114 NP_061987 Q9H329 E41LB_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA. 791 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGGTCTCTTCCTTCATGGGG 0.617000 30 13 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87967673 87967673 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:87967673C>T uc003plm.4 + 7 4367 c.4326C>T c.(4324-4326)ttC>ttT p.F1442F NM_015021 NP_055836 O60281 ZN292_HUMAN Homo sapiens zinc finger protein 292 (ZNF292), mRNA. 1442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AATCTACCTTCAATCCAGAAG 0.413000 22 64 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498881 118498881 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:118498881C>T uc001ptr.2 + 6 1695 c.1342C>T c.(1342-1344)Cgg>Tgg p.R448W PHLDB1_uc001pts.3_Missense_Mutation_p.R448W|PHLDB1_uc001ptt.3_Missense_Mutation_p.R448W|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.R248W|PHLDB1_uc001ptw.2_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 448 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCGCCTGGGCCGGCGGGGCCT 0.647000 96 62 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112166836 112166836 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:112166836G>A uc004bed.2 - 18 1957 c.1845C>T c.(1843-1845)ttC>ttT p.F615F PTPN3_uc004beb.2_Silent_p.F484F|PTPN3_uc004bec.2_Silent_p.F439F|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.F570F|PTPN3_uc011lwh.1_Silent_p.F461F|PTPN3_uc011lwd.1_Silent_p.F83F|PTPN3_uc011lwe.1_Silent_p.F328F|PTPN3_uc011lwf.1_Silent_p.F283F NM_002829 NP_001138843 P26045 PTN3_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA. 615 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 tggcttcggggaaaagctggt 0.522000 37 48 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121437400 121437400 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:121437400C>T uc001tzg.3 + 8 1761 c.1738C>T c.(1738-1740)Ccg>Tcg p.P580S HNF1A_uc010szn.2_Missense_Mutation_p.P587S|HNF1A_uc021rfa.1_Missense_Mutation_p.P611S|HNF1A_uc021rfb.1_Missense_Mutation_p.P452S|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 580 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCACCTGCAGCCGGCCCACCG 0.692000 Hepatic Adenoma, Familial Clustering of 27 10 0 0 1 0 0 FBXO46 23403 broad.mit.edu 37 19 46215527 46215527 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:46215527G>A uc002pcz.3 - 1 1350 c.1227C>T c.(1225-1227)ttC>ttT p.F409F FBXO46_uc002pcy.3_Silent_p.F409F|FBXO46_uc021uvz.1_Silent_p.F409F NM_001080469 NP_001073938 Q6PJ61 FBX46_HUMAN Homo sapiens F-box protein 46 (FBXO46), mRNA. 409 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) TCTGGAGAAAGAAGAGCTGGC 0.701000 23 16 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205890931 205890931 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:205890931G>A uc001hdp.3 - 16 1932 c.1818C>T c.(1816-1818)ccC>ccT p.P606P SLC26A9_uc001hdo.3_Silent_p.P274P|SLC26A9_uc001hdq.3_Silent_p.P606P NM_134325 NP_599152 Q7LBE3 S26A9_HUMAN Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA. 606 STAS. integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GGTCGGTGGGGGGCGCATTCT 0.617000 11 4 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754516 49754516 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:49754516C>T uc003ozu.3 - 0 538 c.385G>A c.(385-387)Gaa>Aaa p.E129K NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 129 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.E129D(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CCCTTCCCTTCTTCCTCCACA 0.517000 75 28 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46669719 46669719 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:46669719C>T uc002inr.3 - 1 721 c.662G>A c.(661-663)cGg>cAg p.R221Q HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Non-coding_Transcript|HOXB-AS3_uc021tzj.1_Non-coding_Transcript NM_002147 NP_002138 P09067 HXB5_HUMAN Homo sapiens homeobox B5 (HOXB5), mRNA. 221 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GCGCCGTCGCCGGGTCAGGTA 0.607000 75 49 0 0 1 0 0 AB231721 0 broad.mit.edu 37 11 58660160 58660160 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:58660160G>A uc001nne.1 + 1 c.100G>A Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F. TAGGTGAGGGGATAAGAGCAG 0.413000 28 16 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152644623 152644623 + Missense_Mutation SNP G A A rs149215868 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:152644623G>A uc021zhb.1 - 79 16130 c.15907C>T c.(15907-15909)Cgg>Tgg p.R5303W SYNE1_uc003qot.4_Missense_Mutation_p.R5232W|SYNE1_uc003qou.4_Missense_Mutation_p.R5303W|SYNE1_uc010kiz.3_Missense_Mutation_p.R1058W NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 5303 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCAGGCACCGATCTTGCATG 0.537000 HNSCC(10;0.0054) 11 21 0 0 1 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34042970 34042970 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:34042970G>A uc003jio.3 - 0 402 c.261C>T c.(259-261)ccC>ccT p.P87P C1QTNF3_uc003jin.3_Intron NM_181435 NP_852100 Q9BXJ4 C1QT3_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA. 0 Collagen-like. collagen p.P87P(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) CATCTACCTCGGGGTGCGGTA 0.468000 86 60 0 0 1 0 0 LOC494141 494141 broad.mit.edu 37 11 18232101 18232101 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:18232101G>A uc009yhh.3 + 1 c.1125G>A LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA. AAGGTTATATGAAAAAAAACA 0.383000 16 6 0 0 1 0 0 PSMG3 84262 broad.mit.edu 37 7 1607478 1607478 + Missense_Mutation SNP G C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:1607478G>C uc003skx.2 - 1 879 c.225C>G c.(223-225)atC>atG p.I75M PSMG3_uc011jvx.1_Missense_Mutation_p.I75M|KIAA1908_uc003sla.3_5'Flank NM_032302 NP_115678 Q9BT73 PSMG3_HUMAN Homo sapiens proteasome (prosome, macropain) assembly chaperone 3 (PSMG3), transcript variant 1, mRNA. 75 lung(2) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) CAAAGACATGGATGAGAGGCT 0.483000 38 11 0 0 1 0 0 ZNF691 51058 broad.mit.edu 37 1 43317029 43317029 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:43317029C>T uc021omh.1 + 3 795 c.493C>T c.(493-495)Cac>Tac p.H165Y ZNF691_uc001cig.3_Missense_Mutation_p.H134Y|ZNF691_uc009vwm.3_Missense_Mutation_p.H154Y|ZNF691_uc001cih.3_Missense_Mutation_p.H161Y|ZNF691_uc021omi.1_Missense_Mutation_p.H134Y NM_001242739 NP_001229668 Q5VV52 ZN691_HUMAN Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA. 165 nucleus DNA binding|zinc ion binding large_intestine(2)|lung(2)|ovary(2)|prostate(1) 7 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGAGCGGATCCACCTGGAAGA 0.572000 21 19 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698939 70698940 + Missense_Mutation DNP CC TT TT TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:70698939_70698940CC>TT uc002ezj.3 - 12 1448_1449 c.1188_1189GG>AA c.(1186-1191)aaggac>aaAAac p.D397N NM_138383 NP_612392 Q765P7 MTSSL_HUMAN Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA. 397 filopodium assembly|signal transduction SH3 domain binding|actin binding|cytoskeletal adaptor activity breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TCCACTCGGTCCTTCCTCCGCT 0.708000 12 12 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92592355 92592355 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:92592355G>A uc001pdj.4 + 19 11542 c.11525G>A c.(11524-11526)gGa>gAa p.G3842E FAT3_uc001pdi.4_Missense_Mutation_p.G282E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3842 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCTTTGCTGGAAACAGTTAC 0.388000 TCGA Ovarian(4;0.039) 29 12 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14378242 14378242 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:14378242C>T uc003ssz.3 - 21 2210 c.2023G>A c.(2023-2025)Gga>Aga p.G675R DGKB_uc011jxt.2_Missense_Mutation_p.G656R|DGKB_uc003sta.3_Missense_Mutation_p.G675R|DGKB_uc011jxu.2_Missense_Mutation_p.G674R NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 675 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding p.G675V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) TTAGACTCTCCCCAAAGATTG 0.413000 41 23 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32090247 32090247 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:32090247C>T uc003jhl.3 + 19 7081 c.6693C>T c.(6691-6693)agC>agT p.S2231S PDZD2_uc003jhm.3_Silent_p.S2231S NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 2231 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTTCTCAAGCCATTTTGGAC 0.627000 210 138 0 0 1 0 0 PITX1 5307 broad.mit.edu 37 5 134364803 134364803 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:134364803G>A uc010jea.3 - 2 1004 c.611C>T c.(610-612)tCc>tTc p.S204F NM_002653 NP_002644 P78337 PITX1_HUMAN Homo sapiens paired-like homeodomain 1 (PITX1), mRNA. 204 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGGGCTCATGGAGTTGAAGAA 0.637000 49 34 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48491531 48491531 + Silent SNP C T T rs150341628 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:48491531C>T uc003ctf.1 + 1 368 c.336C>T c.(334-336)ttC>ttT p.F112F ATRIP_uc011bbj.1_5'UTR|ATRIP_uc003ctg.1_Silent_p.F112F NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA. 112 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAGATAATTTCGAATTAGAGG 0.318000 Other conserved DNA damage response genes 11 45 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135863856 135863856 + Splice_Site SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:135863856G>A uc004ccg.3 + 4 865 c.510_splice c.e4+1 p.K170_splice GFI1B_uc010mzy.3_Splice_Site_p.K170_splice NM_004188 NP_004179 Q5VTD9 GFI1B_HUMAN Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA. 170 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) GTGCAACAAGGTGGGCAGCGG 0.632000 18 11 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168110632 168110632 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:168110632C>T uc002udx.3 + 9 10735 c.10646C>T c.(10645-10647)tCa>tTa p.S3549L XIRP2_uc010fpn.3_Missense_Mutation_p.H456Y|XIRP2_uc010fpo.3_Missense_Mutation_p.H423Y|XIRP2_uc010fpq.3_Missense_Mutation_p.S3327L|XIRP2_uc010fpr.3_Missense_Mutation_p.H201Y NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3374 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GCAGAATTTTCATAAGTCCTG 0.383000 16 23 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113425079 113425079 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:113425079C>T uc001tuj.3 + 1 554 c.414C>T c.(412-414)atC>atT p.I138I OAS2_uc001tuh.3_Silent_p.I138I|OAS2_uc001tui.1_Silent_p.I138I NM_016817 NP_058197 P29728 OAS2_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA. 138 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|RNA binding|nucleotidyltransferase activity NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ATCAGAGAATCTCTTTCGAGG 0.488000 31 29 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 36 112 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056557 9056557 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:9056557C>T uc002mkp.3 - 2 31093 c.30889G>A c.(30889-30891)Gcc>Acc p.A10297T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10299 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 CCTGAGATGGCTCGTGGAACT 0.522000 61 31 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17701056 17701056 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:17701056C>T uc002grm.3 + 2 5263 c.4794C>T c.(4792-4794)ttC>ttT p.F1598F RAI1_uc002grn.1_Silent_p.F1598F NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 1598 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TCTCACCCTTCGTGCGGGTGG 0.612000 77 61 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57849580 57849580 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:57849580G>A uc001snw.3 + 0 485 c.261G>A c.(259-261)ggG>ggA p.G87G NM_031479 NP_113667 P58166 INHBE_HUMAN Homo sapiens inhibin, beta E (INHBE), mRNA. 87 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 TGGCTCCAGGGAATGGGGAGG 0.602000 OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 15 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:20414343A>G uc003zoe.2 - 4 760 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR NM_004529 NP_004520 P42568 AF9_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA. 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(38)|p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 29 5 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338453 103338454 + Missense_Mutation DNP CT GG GG TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:103338453_103338454CT>GG uc022ajr.1 - 9 1149_1150 c.989_990AG>CC c.(988-990)cag>cCC p.Q330P RELN_uc022ajq.1_Missense_Mutation_p.Q330P|RELN_uc010liz.3_Missense_Mutation_p.Q330P NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 330 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAGATTTTCCTGCTTCCACTG 0.450000 82 178 0 0 1 0 0 abParts 0 broad.mit.edu 37 2 90193280 90193280 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:90193280G>A uc010yts.2 + 34 c.4137G>A Parts of antibodies, mostly variable regions. CTAAGCTCCTGATCTATGATG 0.537000 196 36 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132471144 132471144 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:132471144C>T uc001ujn.3 + 5 2167 c.2015C>T c.(2014-2016)cCt>cTt p.P672L EP400_uc021rgq.1_Missense_Mutation_p.P671L|EP400_uc001ujm.3_Missense_Mutation_p.P672L|EP400_uc001ujj.2_Missense_Mutation_p.P635L|EP400_uc001ujk.3_Missense_Mutation_p.P708L NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 708 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCCTCGCGCCTGTGAGTGGC 0.632000 53 40 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7950260 7950260 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:7950260G>A uc002gju.3 + 9 1439 c.1323G>A c.(1321-1323)ttG>ttA p.L441L ALOX15B_uc002gjv.3_Silent_p.L412L|ALOX15B_uc002gjw.3_Silent_p.L412L|ALOX15B_uc010vun.2_Silent_p.L441L|ALOX15B_uc010cnp.3_Silent_p.L247L NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 441 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TCTCTGAGTTGATACAGAGGA 0.532000 29 37 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37203746 37203746 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:37203746C>T uc010xtl.2 + 4 422 c.200C>T c.(199-201)tCa>tTa p.S67L ZNF567_uc002oeo.1_Missense_Mutation_p.S67L|ZNF567_uc010xtk.1_Missense_Mutation_p.S67L|ZNF567_uc002oep.4_Missense_Mutation_p.S36L|ZNF567_uc002oeq.1_Missense_Mutation_p.S36L NM_152603 NP_689816 Q8N184 ZN567_HUMAN Homo sapiens zinc finger protein 567 (ZNF567), mRNA. 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CCATGGACATCATTTGCAGGT 0.443000 22 8 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896912 175896912 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:175896912C>T uc003iuc.3 + 4 906 c.236C>T c.(235-237)cCt>cTt p.P79L ADAM29_uc003iud.3_Missense_Mutation_p.P79L|ADAM29_uc010irr.3_Missense_Mutation_p.P79L|ADAM29_uc011cki.2_Missense_Mutation_p.P79L|ADAM29_uc021xuo.1_Missense_Mutation_p.P79L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 79 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAACACCTCCCTGTGTTCACC 0.483000 18 20 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90020726 90020726 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:90020726G>A uc003kju.3 + 45 9922 c.9826G>A c.(9826-9828)Gaa>Aaa p.E3276K GPR98_uc003kjt.3_Missense_Mutation_p.E982K|GPR98_uc003kjv.3_Missense_Mutation_p.E876K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3276 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.E3276K(2) 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) CTTTACTTTGGAAAATTTAAT 0.328000 34 20 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79386016 79386016 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:79386016G>A uc001diq.4 - 9 1469 c.1313C>T c.(1312-1314)tCa>tTa p.S438L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 438 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACAAATCAGTGAAATAATTAT 0.303000 31 43 0 0 1 0 0 CCDC65 85478 broad.mit.edu 37 12 49308219 49308219 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:49308219G>A uc001rso.3 + 2 560 c.333G>A c.(331-333)gaG>gaA p.E111E NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA. 111 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 AAGCCGAGGAGCAGTACGCCC 0.502000 39 26 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108636231 108636231 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:108636231C>T uc022cch.1 - 11 2563 c.2478G>A c.(2476-2478)cgG>cgA p.R826R GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.R826R NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 826 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCTCCAACATCCGAAGCATAG 0.353000 13 44 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870939 51870939 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:51870939G>A uc002xwo.3 + 1 1829 c.942G>A c.(940-942)tcG>tcA p.S314S TSHZ2_uc021wex.1_Silent_p.S311S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 314 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCATTTCCTCGAAAATGGTCA 0.453000 51 40 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150690942 150690942 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:150690942G>A uc003wif.3 + 1 347 c.51G>A c.(49-51)ctG>ctA p.L17L NOS3_uc011kuy.2_Intron|NOS3_uc011kva.2_Silent_p.L17L|NOS3_uc011kuz.2_Silent_p.L17L|NOS3_uc011kvb.2_Silent_p.L17L NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 17 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGCGGCCTGGGGCTGGGGC 0.706000 81 20 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978344 247978344 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:247978344C>T uc001idm.1 - 0 688 c.688G>A c.(688-690)Gaa>Aaa p.E230K NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GACTGGCCTTCTGTGGAAGGG 0.408000 55 22 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458381 12458381 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:12458381G>A uc003bwx.3 + 5 1089 c.998G>A c.(997-999)gGt>gAt p.G333D PPARG_uc003bwr.3_Missense_Mutation_p.G305D|PPARG_uc003bws.3_Missense_Mutation_p.G305D|PPARG_uc003bwu.3_Missense_Mutation_p.G305D|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 333 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AGCATTCCTGGTTTTGTAAAT 0.483000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 8 26 0 0 1 0 0 LINC00477 144360 broad.mit.edu 37 12 24736484 24736484 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:24736484G>A uc001rgb.1 - 0 c.619C>T Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA. CATGCCTCTGGGGTGAAAATC 0.527000 22 21 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454983 187454983 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:187454983C>T uc003izd.1 - 1 931 c.913G>A c.(913-915)Gaa>Aaa p.E305K NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 305 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CTCCTGTATTCCTTCCTGAAA 0.473000 79 61 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119735476 119735476 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:119735476G>A uc002tln.1 + 7 863 c.731G>A c.(730-732)gGa>gAa p.G244E MARCO_uc010yyf.1_Missense_Mutation_p.G166E NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 244 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGGGAAACTGGAACTAAGGGA 0.602000 12 9 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49409343 49409343 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:49409343G>A uc001jgi.3 - 14 2213 c.1882C>T c.(1882-1884)Ctg>Ttg p.L628L FRMPD2_uc001jgh.3_Silent_p.L596L|FRMPD2_uc001jgj.3_Silent_p.L597L NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 628 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CAGAGGTCCAGTAAGTATTTA 0.453000 6 41 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61938855 61938855 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:61938855C>T uc011aau.2 + 5 610 c.510C>T c.(508-510)ttC>ttT p.F170F COL20A1_uc011aav.2_5'UTR NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 170 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCCCCCAGTTCCGCTGCCTGC 0.682000 23 10 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133252035 133252035 + Missense_Mutation SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:133252035T>C uc001uks.1 - 11 1219 c.1175A>G c.(1174-1176)gAc>gGc p.D392G POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.D365G NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 392 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCCCTGGCTGTCCTTCTGGAA 0.612000 DNA polymerases (catalytic subunits) 47 34 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66081782 66081782 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:66081782G>A uc001dci.3 + 14 2476 c.2087G>A c.(2086-2088)gGa>gAa p.G696E LEPR_uc001dcg.3_Missense_Mutation_p.G696E|LEPR_uc001dch.3_Missense_Mutation_p.G696E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.G696E|LEPR_uc001dcj.3_Missense_Mutation_p.G696E|LEPR_uc001dck.3_Missense_Mutation_p.G696E NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 696 Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GAAGATGTGGGAAATCACACG 0.398000 29 31 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80732954 80732954 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:80732954C>T uc001szd.3 + 41 4939 c.4933C>T c.(4933-4935)Cta>Tta p.L1645L NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCCAGCTGGACTAATCATAAA 0.423000 74 63 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17331559 17331559 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:17331559G>A uc001baa.2 - 3 487 c.297C>T c.(295-297)tcC>tcT p.S99S ATP13A2_uc001bac.2_Silent_p.S99S|ATP13A2_uc001bab.2_Silent_p.S99S NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 99 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGAGCTGCCAGGAACTATCCT 0.637000 17 23 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482746 94482746 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:94482746C>T uc001vlt.3 + 2 1291 c.659C>T c.(658-660)aCc>aTc p.T220I GPC6_uc010tig.1_Missense_Mutation_p.T220I|GPC6_uc001vlu.1_Missense_Mutation_p.T150I NM_005708 NP_005699 Q9Y625 GPC6_HUMAN Homo sapiens glypican 6 (GPC6), mRNA. 220 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCTGCCAGGACCTTTGTCCAG 0.488000 23 19 0 0 1 0 0 ERF 2077 broad.mit.edu 37 19 42753108 42753108 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:42753108G>A uc002ote.4 - 3 1314 c.1156C>T c.(1156-1158)Cgc>Tgc p.R386C ERF_uc002otd.4_Missense_Mutation_p.R117C NM_006494 NP_006485 P50548 ERF_HUMAN Homo sapiens Ets2 repressor factor (ERF), mRNA. 386 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CGCTGCCGGCGTCCGAGTGGG 0.687000 132 27 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138030215 138030215 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:138030215C>T uc002tva.1 + 9 2286 c.2286C>T c.(2284-2286)tcC>tcT p.S762S THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.S652S NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. 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) AAGATGTTTCCTTGTGTCCTG 0.383000 19 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434448 179434448 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:179434448G>A uc021vsy.1 - 274 68932 c.68707C>T c.(68707-68709)Ctg>Ttg p.L22903L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L16598L|TTN_uc021vta.1_Silent_p.L16531L|TTN_uc021vtb.1_Silent_p.L16406L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23830 Fibronectin type-III 66. 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) TTTTCCAACAGCTTCTCTACT 0.378000 27 10 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19339370 19339370 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:19339370G>A uc002nlz.3 + 7 3040 c.2941G>A c.(2941-2943)Gag>Aag p.E981K NCAN_uc010ecc.1_Missense_Mutation_p.E545K NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 981 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CCCGGGTGTAGAGAGCTTCTG 0.647000 61 50 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159493933 159493933 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:159493933C>T uc003ipz.3 + 1 396 c.133C>T c.(133-135)Ctg>Ttg p.L45L RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Silent_p.L45L|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Silent_p.L45L|RXFP1_uc010iqm.3_Silent_p.L45L|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 45 LDL-receptor class A. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GCCTCAGCTCCTGCACTGTAA 0.552000 44 44 0 0 1 0 0 ZNF793 390927 broad.mit.edu 37 19 38023375 38023375 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:38023375G>A uc010efm.3 + 5 575 c.133G>A c.(133-135)Gtc>Atc p.V45I ZNF793_uc010xts.2_Missense_Mutation_p.V45I NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN Homo sapiens zinc finger protein 793 (ZNF793), mRNA. 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|lung(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TAGCAACCTCGTCTCAGTGGG 0.507000 25 10 0 0 1 0 0 KIAA1967 57805 broad.mit.edu 37 8 22474945 22474945 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:22474945C>T uc003xch.3 + 14 2107 c.1858C>T c.(1858-1860)Ctt>Ttt p.L620F KIAA1967_uc003xci.3_Missense_Mutation_p.L620F|KIAA1967_uc003xcj.1_Missense_Mutation_p.L289F NM_021174 NP_066997 Q8N163 K1967_HUMAN Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA. 620 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GGAGGATGGGCTTTTGCCCAA 0.502000 70 54 0 0 1 0 0 TPMT 7172 broad.mit.edu 37 6 18139929 18139929 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:18139929G>A uc003ncm.3 - 4 541 c.386C>T c.(385-387)tCa>tTa p.S129L TPMT_uc010jpm.1_Missense_Mutation_p.S129L NM_000367 NP_000358 P51580 TPMT_HUMAN Homo sapiens thiopurine S-methyltransferase (TPMT), mRNA. 129 xenobiotic metabolic process cytosol thiopurine S-methyltransferase activity large_intestine(2)|lung(1) 3 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.146) all cancers(50;0.06)|Epithelial(50;0.0654) Mercaptopurine(DB01033) ACAGTACAATGAAATGTTCCC 0.353000 21 33 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185685 117185686 + Missense_Mutation DNP CC TT TT TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:117185685_117185686CC>TT uc004biy.4 - 6 1025_1026 c.385_386GG>AA c.(385-387)ggg>AAg p.G129K DFNB31_uc004bix.3_Missense_Mutation_p.G161K|DFNB31_uc004biz.4_Missense_Mutation_p.G512K|DFNB31_uc004bja.4_Missense_Mutation_p.G512K NM_001083885 NP_001077354 Q9P202 WHRN_HUMAN Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA. 512 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 GTCCCCAGCCCCGGGGCCTGGG 0.644000 66 46 0 0 1 0 0 GAST 2520 broad.mit.edu 37 17 39871808 39871808 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:39871808G>A uc002hxl.3 + 1 187 c.120G>A c.(118-120)agG>agA p.R40R JUP_uc010wfs.2_Intron NM_000805 NP_000796 P01350 GAST_HUMAN Homo sapiens gastrin (GAST), mRNA. 40 Cleavage. extracellular region hormone activity p.N39D(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) GGGCCAACAGGGACCTGGAGC 0.632000 82 52 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62371063 62371063 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:62371063G>A uc003xuh.3 + 4 1263 c.939G>A c.(937-939)tcG>tcA p.S313S CLVS1_uc003xui.3_Non-coding_Transcript NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 313 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATACGTCCTCGAATCTGGAGA 0.493000 13 13 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278836 130278836 + Splice_Site SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:130278836C>T uc001qgg.4 - 7 2109 c.1751_splice c.e7-1 p.G584_splice ADAMTS8_uc001qgf.3_Splice_Site_p.G65_splice NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 584 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AAGCTTTTCCCTAGAAAGAGG 0.498000 40 27 0 0 1 0 0 MTA1 9112 broad.mit.edu 37 14 105929534 105929534 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:105929534C>T uc001yqx.3 + 10 1143 c.956C>T c.(955-957)tCg>tTg p.S319L MTA1_uc001yqy.3_Missense_Mutation_p.S319L|MTA1_uc021seq.1_Missense_Mutation_p.S319L|MTA1_uc001yrb.3_Missense_Mutation_p.S80L NM_004689 NP_004680 Q13330 MTA1_HUMAN Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA. 319 SANT. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CCGTGGAAGTCGCTGACCAGC 0.652000 80 65 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72690700 72690700 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:72690700C>T uc002auq.3 + 0 33 c.33C>T c.(31-33)ttC>ttT p.F11F TMEM202_uc002aur.3_Non-coding_Transcript NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN Homo sapiens transmembrane protein 202 (TMEM202), mRNA. 11 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCTTGACTTTCCACAGTCCTG 0.448000 13 8 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1544511 1544511 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:1544511C>T uc004cpx.2 - 7 1104 c.967G>A c.(967-969)Gat>Aat p.D323N CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.D307N|ASMTL_uc011mhe.2_Missense_Mutation_p.D247N|ASMTL_uc011mhf.2_Missense_Mutation_p.D265N NM_004192 NP_001166944 O95671 ASML_HUMAN Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA. 323 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGGCAATATCCGCAGCCTTC 0.522000 13 9 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233620964 233620964 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:233620964C>T uc002vtj.4 + 6 566 c.299C>T c.(298-300)gCt>gTt p.A100V GIGYF2_uc010zmj.1_Missense_Mutation_p.A100V|GIGYF2_uc002vtg.2_Missense_Mutation_p.A100V|GIGYF2_uc002vti.4_Missense_Mutation_p.A100V|GIGYF2_uc002vtk.4_Missense_Mutation_p.A100V|GIGYF2_uc002vth.4_Missense_Mutation_p.A100V|GIGYF2_uc010zmk.2_Non-coding_Transcript NM_001103147 NP_001096617 Q6Y7W6 PERQ2_HUMAN Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA. 100 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) AATAGTGCTGCTGTCCTGCGA 0.398000 18 14 0 0 1 0 0 ETNK2 55224 broad.mit.edu 37 1 204115774 204115774 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:204115774G>A uc001han.4 - 2 964 c.637C>T c.(637-639)Ccc>Tcc p.P213S ETNK2_uc010pqr.2_Missense_Mutation_p.P35S|ETNK2_uc001hao.4_Missense_Mutation_p.P213S|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Missense_Mutation_p.P35S Q9NVF9 EKI2_HUMAN Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA. 213 ATP binding|choline kinase activity|ethanolamine kinase activity breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1) 7 all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TTGTACCTGGGGTTGATCTCG 0.522000 98 44 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77303873 77303873 + Splice_Site SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:77303873C>T uc003hkb.4 - 7 957 c.804_splice c.e7-1 p.R268_splice CCDC158_uc003hkd.3_Splice_Site_p.R268_splice NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 268 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ACTGCTCAATCCTATAAAAAG 0.318000 27 18 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201970534 201970534 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:201970534C>T uc001gxd.3 + 6 1264 c.1235C>T c.(1234-1236)aCc>aTc p.T412I RNPEP_uc001gxe.3_Missense_Mutation_p.T113I NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 412 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TATAATGAGACCCCCTACGAG 0.493000 57 12 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54420781 54420781 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:54420781G>A uc003dhf.3 + 3 409 c.361G>A c.(361-363)Gaa>Aaa p.E121K CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E27K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 121 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CCTGAAACATGAATTTGATGC 0.393000 9 3 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799688 133799688 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:133799688G>A uc004bzz.3 - 2 893 c.648C>T c.(646-648)ccC>ccT p.P216P FIBCD1_uc011mcc.2_Silent_p.P216P NM_032843 NP_116232 Q8N539 FBCD1_HUMAN Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA. 216 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) CCTTGTTGCGGGGCCGGCCCA 0.706000 14 14 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 11012923 11012923 + RNA SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:11012923T>C uc002yis.1 - 8 c.1698A>G P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTACCTAGCTTTTTTACTTTT 0.289000 17 12 0 0 1 0 0 UCP2 7351 broad.mit.edu 37 11 73686708 73686708 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:73686708G>A uc001oup.1 - 6 1023 c.643C>T c.(643-645)Cct>Tct p.P215S NM_003355 NP_003346 P55851 UCP2_HUMAN Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA. 215 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) AAGTGGCAAGGGAGGTCATCT 0.522000 35 27 0 0 1 0 0 CBX8 57332 broad.mit.edu 37 17 77768504 77768504 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:77768504G>A uc002jxd.2 - 4 1218 c.1100C>T c.(1099-1101)aCc>aTc p.T367I NM_020649 NP_065700 Q9HC52 CBX8_HUMAN Homo sapiens chromobox homolog 8 (CBX8), mRNA. 367 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex|nuclear chromatin methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AAAGTTTGAGGTCACGTCCGT 0.542000 70 60 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10534974 10534974 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:10534974C>T uc002gmq.2 - 35 5328 c.5240G>A c.(5239-5241)aGg>aAg p.R1747K NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1747 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTTGCATCCCTGCTGGCATC 0.567000 OREG0024180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 10 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167728728 167728728 + Missense_Mutation SNP C T T rs142367645 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:167728728C>T uc003qvq.3 + 7 1337 c.1162C>T c.(1162-1164)Cgc>Tgc p.R388C UNC93A_uc003qvr.3_Missense_Mutation_p.R346C NM_018974 NP_061847 Q86WB7 UN93A_HUMAN Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA. 388 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CGCCAATTACCGCCTGTGGGA 0.582000 30 74 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784063 9784063 + Missense_Mutation SNP A G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:9784063A>G uc003gmb.4 + 0 806 c.410A>G c.(409-411)gAc>gGc p.D137G NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 137 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D137G(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ATCAGCGTGGACCGCTACTGG 0.612000 37 3 0 0 1 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1148486 1148486 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:1148486C>T uc001adf.3 - 1 866 c.268G>A c.(268-270)Ggc>Agc p.G90S TNFRSF4_uc001ade.3_Intron P43489 TNR4_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA. 82 T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAGCAGGGGCCGGATGGGGGG 0.697000 10 8 0 0 1 0 0 TXNRD1 7296 broad.mit.edu 37 12 104645310 104645310 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:104645310G>A uc021rcx.1 + 1 119 c.97G>A c.(97-99)Gat>Aat p.D33N TXNRD1_uc001tkm.1_Missense_Mutation_p.D36N NM_001093771 Q16881 TRXR1_HUMAN Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA. 33 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 TCTAGCTAAAGATCATCACCC 0.418000 19 8 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616785 248616785 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:248616785G>A uc001iek.1 + 0 687 c.687G>A c.(685-687)atG>atA p.M229I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCACAGGATGAACTCTGCTG 0.547000 47 21 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34500828 34500828 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:34500828C>T uc003zum.3 + 10 1203 c.1010C>T c.(1009-1011)gCc>gTc p.A337V NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. 337 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TCCGTCACTGCCCTCTGCTGG 0.547000 Kartagener syndrome OREG0019152 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 15 0 0 1 0 0 FAM50B 26240 broad.mit.edu 37 6 3850601 3850601 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:3850601G>A uc003mvu.3 + 1 668 c.556G>A c.(556-558)Gag>Aag p.E186K FAM50B_uc021ykt.1_Missense_Mutation_p.E186K NM_012135 NP_036267 Q9Y247 FA50B_HUMAN Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA. 186 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) CGAGGAGATGGAGGTCACCTT 0.677000 91 26 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729866 41729866 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:41729866G>A uc003thq.3 - 1 898 c.663C>T c.(661-663)ttC>ttT p.F221F INHBA_uc003thr.3_Silent_p.F221F NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 221 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGGAGACAGGGAAGACATGCC 0.592000 TSP Lung(11;0.080) 26 20 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10603436 10603436 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:10603436C>T uc010rcc.1 - 18 2724 c.2338G>A c.(2338-2340)Gag>Aag p.E780K MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E772K|MRVI1_uc001miw.2_Missense_Mutation_p.E771K|MRVI1_uc001mix.3_Missense_Mutation_p.E465K|MRVI1_uc001miz.2_Missense_Mutation_p.E689K|MRVI1_uc010rcd.1_Missense_Mutation_p.E574K|MRVI1_uc009ygd.1_Missense_Mutation_p.E465K|MRVI1_uc010rce.1_Non-coding_Transcript NM_130385 NP_569056 Q9Y6F6 MRVI1_HUMAN Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA. 753 Glu-rich. platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum p.E780*(1) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) GCTTCTTCCTCCATCCTGGCC 0.557000 45 29 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52788920 52788920 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:52788920G>A uc001sai.1 - 8 1496 c.1381C>T c.(1381-1383)Ctc>Ttc p.L461F NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN Homo sapiens keratin 82 (KRT82), mRNA. 461 Tail. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CCAGTGCTGAGGACAGGCGTG 0.642000 23 32 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35231525 35231525 + Nonsense_Mutation SNP C G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:35231525C>G uc002nvu.3 + 3 702 c.239C>G c.(238-240)tCa>tGa p.S80* ZNF181_uc010xsb.1_Nonsense_Mutation_p.S79*|ZNF181_uc010xsc.1_Nonsense_Mutation_p.S15* NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA. 80 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GATTGGGAATCAAGATGGGAA 0.279000 69 34 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269218 1269218 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:1269218C>T uc001lta.3 + 30 11167 c.11108C>T c.(11107-11109)aCt>aTt p.T3703I NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3703 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCCACTACGACTGAGTCCACT 0.662000 98 89 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27889630 27889631 + Missense_Mutation DNP GG AA AA TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:27889630_27889631GG>AA uc002hed.2 - 1 1413_1414 c.1355_1356CC>TT c.(1354-1356)tcc>tTT p.S452F NM_198147 NP_937790 Q6UXT9 ABH15_HUMAN Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA. 452 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 GGTTGGAAGAGGAAGAGACTTC 0.554000 71 34 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61391531 61391531 + Missense_Mutation SNP G C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:61391531G>C uc002ydf.3 + 3 1540 c.1169G>C c.(1168-1170)aGg>aCg p.R390T NM_002531 NP_002522 P30989 NTR1_HUMAN Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA. 390 Golgi apparatus|endoplasmic reticulum|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CGGCGCAGGAGGAAGAGGCCA 0.642000 50 41 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139258054 139258054 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:139258054G>A uc003vvf.4 - 14 3487 c.3216C>T c.(3214-3216)tcC>tcT p.S1072S HIPK2_uc003vvd.4_Silent_p.S1045S NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 1072 Autoinhibitory domain (AID). DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction PML body|centrosome|nuclear membrane ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TGTGCGGGAAGGAGTACGGAG 0.677000 63 156 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183869323 183869323 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:183869323C>T uc001gqm.3 + 11 1836 c.1375C>T c.(1375-1377)Ctg>Ttg p.L459L RGL1_uc010pof.1_Silent_p.L229L|RGL1_uc010pog.2_Silent_p.L422L|RGL1_uc010poh.2_Silent_p.L422L|RGL1_uc001gqo.3_Silent_p.L424L|RGL1_uc010poi.2_Intron NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 424 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 GGGCACCTTCCTGACTGACCT 0.522000 41 70 0 0 1 0 0 PEX2 5828 broad.mit.edu 37 8 77896063 77896063 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:77896063C>T uc022awg.1 - 0 352 c.352G>A c.(352-354)Gaa>Aaa p.E118K PEX2_uc003yax.3_Missense_Mutation_p.E118K|PEX2_uc003yay.3_Missense_Mutation_p.E118K|PEX2_uc022awe.1_Missense_Mutation_p.E118K|PEX2_uc022awf.1_Missense_Mutation_p.E118K NM_001172087 NP_001165558 P28328 PEX2_HUMAN Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA. 118 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding p.E117D(1)|p.E118A(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TAGCATCGTTCTTCTAACCAC 0.378000 21 28 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35211490 35211490 + Missense_Mutation SNP C T T rs141155638 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:35211490C>T uc001mvu.3 + 4 979 c.545C>T c.(544-546)tCc>tTc p.S182F CD44_uc021qfw.1_Missense_Mutation_p.S182F|CD44_uc001mvv.3_Missense_Mutation_p.S182F|CD44_uc001mvw.3_Missense_Mutation_p.S182F|CD44_uc001mwc.4_Missense_Mutation_p.S182F|CD44_uc001mvx.3_Missense_Mutation_p.S182F|CD44_uc010rer.2_Missense_Mutation_p.S182F|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Non-coding_Transcript|CD44_uc010reu.2_5'UTR|CD44_uc010res.2_5'UTR|CD44_uc010ret.2_Non-coding_Transcript NM_000610 NP_000601 P16070 CD44_HUMAN Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA. 182 cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation Golgi apparatus|cell surface|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AGCAGCGGCTCCTCCAGTGAA 0.517000 37 20 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503739 140503739 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140503739C>T uc003lip.1 + 0 2159 c.2159C>T c.(2158-2160)tCg>tTg p.S720L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 720 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGGCGGCCTCGGTGGGTCGC 0.672000 84 77 0 0 1 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776621 159776621 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:159776621G>A uc003lyd.3 - 2 551 c.547C>T c.(547-549)Cca>Tca p.P183S NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA. 138 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGGGCCTGGGAGGCCTGGC 0.657000 75 47 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058359 9058359 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:9058359C>T uc002mkp.3 - 2 29291 c.29087G>A c.(29086-29088)gGa>gAa p.G9696E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9698 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 GTGTGAAAGTCCTTGAGACAT 0.488000 26 19 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9438089 9438089 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:9438089G>A uc021wam.1 + 29 3004 c.2989G>A c.(2989-2991)Gaa>Aaa p.E997K PLCB4_uc010gbw.1_Missense_Mutation_p.E997K|PLCB4_uc010gbx.3_Missense_Mutation_p.E1009K|PLCB4_uc021wal.1_Missense_Mutation_p.E997K|PLCB4_uc002wnh.3_Missense_Mutation_p.E844K NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 997 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AATGAAAAAAGAAACAGAAAT 0.358000 18 7 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97157951 97157951 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:97157951C>T uc021rcc.1 + 25 3416 c.3338C>T c.(3337-3339)tCt>tTt p.S1113F Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 1113 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AGAAGTAGTTCTGTTAAAGAA 0.333000 22 8 0 0 1 0 0 ARFRP1 10139 broad.mit.edu 37 20 62333528 62333528 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:62333528G>A uc002ygf.3 - 4 449 c.306C>T c.(304-306)tcC>tcT p.S102S ARFRP1_uc002yga.3_Silent_p.S102S|ARFRP1_uc011abf.2_Silent_p.S102S|ARFRP1_uc002ygh.4_Silent_p.S102S|ARFRP1_uc002ygc.3_Silent_p.S102S|ARFRP1_uc011abg.2_Silent_p.S102S|ARFRP1_uc011abh.2_Non-coding_Transcript NM_003224 NP_003215 Q13795 ARFRP_HUMAN Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), transcript variant 1, mRNA. 102 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCTCGTCGGTGGAGTCAATGA 0.627000 31 20 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776432 38776432 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:38776432G>A uc003gtj.3 - 3 1418 c.780C>T c.(778-780)ttC>ttT p.F260F TLR10_uc021xnk.1_Silent_p.F246F|TLR10_uc003gti.3_Silent_p.F260F|TLR10_uc021xnl.1_Silent_p.F260F|TLR10_uc003gtk.3_Silent_p.F260F|TLR10_uc021xnm.1_Silent_p.F260F NM_030956 NP_001182037 Q9BXR5 TLR10_HUMAN Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA. 260 MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GTAAGATAAGGAAAAGGTCGT 0.343000 21 14 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4566790 4566790 + Missense_Mutation SNP C T T rs61751908 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:4566790C>T uc010qyf.2 + 0 370 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCTTTTGATCGCTACGTGGC 0.527000 41 32 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125035755 125035755 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:125035755C>T uc003yqw.3 + 17 2411 c.2205C>T c.(2203-2205)atC>atT p.I735I FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 735 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATGCCCGCATCGCCTCCAAAG 0.517000 63 45 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25745418 25745418 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:25745418G>A uc003xes.2 - 8 1087 c.822C>T c.(820-822)atC>atT p.I274I DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 274 IPT/TIG. 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) AGTTGTCCCCGATGATGATGA 0.498000 37 23 0 0 1 0 0 TM4SF5 9032 broad.mit.edu 37 17 4686149 4686149 + Splice_Site SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:4686149G>A uc002fyw.1 + 4 427 c.396_splice c.e4-1 p.A132_splice NM_003963 NP_003954 O14894 T4S5_HUMAN Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA. 132 integral to plasma membrane large_intestine(2)|lung(3)|ovary(1) 6 CCTCCCACAGGGGAGCTTACT 0.667000 28 11 0 0 1 0 0 TTC39A 22996 broad.mit.edu 37 1 51767281 51767281 + Missense_Mutation SNP T A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:51767281T>A uc001csl.3 - 11 1229 c.1124A>T c.(1123-1125)tAc>tTc p.Y375F TTC39A_uc001csk.3_Missense_Mutation_p.Y340F|TTC39A_uc010ond.2_Missense_Mutation_p.Y312F|TTC39A_uc010one.2_Missense_Mutation_p.Y339F|TTC39A_uc010onf.2_Missense_Mutation_p.Y343F|TTC39A_uc001csn.3_Missense_Mutation_p.Y374F|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Missense_Mutation_p.Y312F NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA. 375 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 CAGGTCGGCGTAGAAGTAGGA 0.582000 15 6 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4576330 4576330 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:4576330G>A uc002fyi.4 - 15 2182 c.1956C>T c.(1954-1956)ccC>ccT p.P652P PELP1_uc010vsf.2_Silent_p.P505P NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 652 Pro-rich. transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CCTCAGGAGGGGGAACTGGAG 0.687000 31 25 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55027393 55027393 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:55027393G>A uc002lgn.3 + 3 1385 c.1028G>A c.(1027-1029)gGa>gAa p.G343E NM_015879 NP_056963 O43173 SIA8C_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA. 343 N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GACAAAAAAGGAACCAAATTT 0.478000 24 16 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155295184 155295184 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:155295184C>T uc002tyt.4 + 9 1580 c.1476C>T c.(1474-1476)atC>atT p.I492I GALNT13_uc002tyr.4_Silent_p.I492I|GALNT13_uc010fod.3_Missense_Mutation_p.H225Y|AX746678_uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 492 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GACCTGTAATCATGTTAAAAT 0.343000 33 32 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280808 105280808 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chrX:105280808G>A uc010npd.3 - 0 477 c.242C>T c.(241-243)tCc>tTc p.S81F SERPINA7_uc004eme.2_Missense_Mutation_p.S81F|SERPINA7_uc010npe.2_Missense_Mutation_p.S81F NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 81 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GGCCCCAAAGGAAAGCATAAC 0.498000 4 25 0 0 1 0 0 CCNY 219771 broad.mit.edu 37 10 35842087 35842087 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:35842087C>T uc001iyw.4 + 7 900 c.720C>T c.(718-720)atC>atT p.I240I CCNY_uc001iyu.4_Silent_p.I186I|CCNY_uc001iyv.4_Silent_p.I186I|CCNY_uc001iyx.4_Silent_p.I186I|CCNY_uc009xmb.3_Silent_p.I215I|CCNY_uc010qet.2_Silent_p.I107I NM_145012 NP_859049 Q8ND76 CCNY_HUMAN Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA. 240 Cyclin N-terminal. G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane cyclin-dependent protein kinase regulator activity|protein kinase binding cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 8 ACTGCCAGATCCTGAAAGACA 0.537000 13 24 0 0 1 0 0 OVOL1 5017 broad.mit.edu 37 11 65561697 65561697 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:65561697G>A uc001ofp.3 + 1 636 c.296G>A c.(295-297)gGc>gAc p.G99D OVOL1_uc001ofq.3_Missense_Mutation_p.G37D NM_004561 NP_004552 O14753 OVOL1_HUMAN Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA. 99 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) AGAGACCATGGCTTCCTGCGC 0.622000 47 45 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117232082 117232082 + Missense_Mutation SNP G A A rs121908777 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:117232082G>A uc003vjd.3 + 13 1993 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K CFTR_uc011knq.2_Missense_Mutation_p.E27K NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 621 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) AATTTTGCATGAAGGTAGCAG 0.343000 Cystic Fibrosis 114 25 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3190713 3190713 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:3190713G>A uc010uws.2 + 5 1192 c.745G>A c.(745-747)Gag>Aag p.E249K ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.E249K|ZNF213_uc010uwt.2_Silent_p.*224* NM_004220 NP_004211 O14771 ZN213_HUMAN Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA. 249 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 AGGCCAAAGTGAGAAGTCCCT 0.627000 50 23 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436784 16436784 + Nonsense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:16436784G>A uc003zml.3 - 5 1548 c.1408C>T c.(1408-1410)Cga>Tga p.R470* BNC2_uc011lmw.2_Nonsense_Mutation_p.R375*|BNC2_uc003zmm.3_Nonsense_Mutation_p.R428*|BNC2_uc003zmq.1_Nonsense_Mutation_p.R484*|BNC2_uc003zmr.1_Nonsense_Mutation_p.R507*|BNC2_uc003zmp.1_Nonsense_Mutation_p.R498*|BNC2_uc010mij.1_Nonsense_Mutation_p.R392*|BNC2_uc011lmv.2_Nonsense_Mutation_p.R296*|BNC2_uc003zmo.1_Nonsense_Mutation_p.R392*|BNC2_uc003zmj.3_Nonsense_Mutation_p.R235*|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Nonsense_Mutation_p.R235*|BNC2_uc003zmn.1_Nonsense_Mutation_p.R235* NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN Homo sapiens basonuclin 2 (BNC2), mRNA. 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) ATGGTGCATCGATGTTTGATC 0.443000 47 31 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106960899 106960899 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:106960899G>A uc001kyi.1 + 15 2376 c.2149G>A c.(2149-2151)Gaa>Aaa p.E717K SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 717 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGTCATGGGAGAAAGGAAAAT 0.458000 2 13 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28967775 28967775 + Silent SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:28967775T>C uc003nlu.2 - 3 652 c.141A>G c.(139-141)ggA>ggG p.G47G ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN Homo sapiens zinc finger protein 311 (ZNF311), mRNA. 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 GCGGCAGGTTTCCTTGGCTTC 0.453000 11 20 0 0 1 0 0 FAM176C 59271 broad.mit.edu 37 21 33887212 33887212 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:33887212C>T uc002ypr.1 + 7 1448 c.1038C>T c.(1036-1038)tcC>tcT p.S346S FAM176C_uc010glw.1_Silent_p.S343S|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Silent_p.S251S NM_058187 NP_478067 P58658 CU063_HUMAN Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA. 346 integral to membrane sugar binding TCAGAGAGTCCTGTGCCAAGG 0.627000 31 17 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48848431 48848431 + Missense_Mutation SNP C A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:48848431C>A uc003xqi.3 - 12 1365 c.1308G>T c.(1306-1308)gaG>gaT p.E436D PRKDC_uc003xqj.3_Missense_Mutation_p.E436D NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 436 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCACGAGGTGCTCCAGAACTG 0.448000 Non-homologous end-joining 17 14 1.5842e-08 1.60716e-08 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50468178 50468178 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:50468178C>T uc003tow.4 + 7 1568 c.1413C>T c.(1411-1413)ttC>ttT p.F471F IKZF1_uc022acq.1_Silent_p.F328F|IKZF1_uc003tpa.4_Silent_p.F236F|IKZF1_uc022acr.1_Silent_p.F246F|IKZF1_uc022acs.1_Silent_p.F201F|IKZF1_uc022act.1_Silent_p.F374F|IKZF1_uc022acu.1_Silent_p.F384F|IKZF1_uc003tox.4_Silent_p.F429F|IKZF1_uc022acv.1_Silent_p.F332F|IKZF1_uc022acw.1_Silent_p.F342F|IKZF1_uc022acx.1_Silent_p.F384F|IKZF1_uc022acy.1_Silent_p.F278F|IKZF1_uc022acz.1_Silent_p.F288F|IKZF1_uc011kck.2_Silent_p.F384F|IKZF1_uc003toy.4_Silent_p.F429F|IKZF1_uc003toz.4_Silent_p.F441F|IKZF1_uc010kyx.3_Silent_p.F211F NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 471 Required for binding PP1CC (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GGGTGCTCTTCCTGGATCACG 0.617000 """D,T""" BCL6 """ALL, DLBCL""" 18 9 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5863101 5863101 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:5863101G>A uc010qzq.2 - 0 27 c.27C>T c.(25-27)ttC>ttT p.F9F TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAAGTATGGAACTGGGTGT 0.423000 34 21 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066818 23066818 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:23066818G>A uc002wsv.3 - 0 160 c.12C>T c.(10-12)tcC>tcT p.S4S NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 4 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) gcagGCCCATGGAGGTGGCCA 0.706000 2 6 0 0 1 0 0 GALNTL4 374378 broad.mit.edu 37 11 11398885 11398885 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:11398885C>T uc001mjo.2 - 4 1242 c.821G>A c.(820-822)cGg>cAg p.R274Q NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA. 274 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CGAGATGATCCGCTTCCGGTT 0.532000 27 26 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701726 8701726 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:8701726G>A uc002glp.2 - 0 942 c.713C>T c.(712-714)tCc>tTc p.S238F NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA. 238 integral to membrane p.S238L(2) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 CGCCTCCAAGGACAGGTCAAA 0.612000 39 38 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62298168 62298168 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:62298168G>A uc001ntl.3 - 4 4021 c.3721C>T c.(3721-3723)Cca>Tca p.P1241S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1241 nervous system development nucleus protein binding p.P1241T(2)|p.P1241P(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCACATCTGGGGCATCAATG 0.493000 191 119 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793418 242793418 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:242793418G>A uc002wcq.4 - 4 727 c.659C>T c.(658-660)tCt>tTt p.S220F PDCD1_uc010fzs.3_Missense_Mutation_p.S99F|PDCD1_uc010fzt.3_Non-coding_Transcript NM_005018 NP_005009 Q15116 PDCD1_HUMAN Homo sapiens programmed cell death 1 (PDCD1), mRNA. 220 T cell costimulation|apoptosis|humoral immune response|multicellular organismal development integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) ATAGTCCACAGAGAACACAGG 0.632000 22 21 0 0 1 0 0 LUC7L2 51631 broad.mit.edu 37 7 139092031 139092031 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:139092031G>A uc011kqt.2 + 6 1054 c.820G>A c.(820-822)Gat>Aat p.D274N LUC7L2_uc011kqs.2_Missense_Mutation_p.D205N|LUC7L2_uc003vuy.3_Missense_Mutation_p.D207N|LUC7L2_uc003vux.3_Missense_Mutation_p.D208N|LUC7L2_uc003vuz.1_Missense_Mutation_p.D155N|LUC7L2_uc003vva.3_Missense_Mutation_p.D155N NM_001244584 NP_001231513 Q9Y383 LC7L2_HUMAN Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA. 208 Arg/Ser-rich. enzyme binding|metal ion binding p.D208N(1) NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 16 Melanoma(164;0.242) ACGACTGGCTGATCATTTTGG 0.398000 21 86 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106733339 106733339 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:106733339G>A uc021ser.1 - 876 c.21207C>T Parts of antibodies, mostly variable regions. CCCAGTGCATGGATAATTCAG 0.547000 229 77 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77082330 77082330 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:77082330C>T uc002jwv.3 + 13 2139 c.2131C>T c.(2131-2133)Cgt>Tgt p.R711C ENGASE_uc002jww.3_Missense_Mutation_p.R416C NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 711 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CGGCCAGGATCGTCGCATGGA 0.632000 45 31 0 0 1 0 0 TEX34 124783 broad.mit.edu 37 17 43333087 43333087 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:43333087G>A uc002iis.1 - 3 558 c.462C>T c.(460-462)tcC>tcT p.S154S LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Silent_p.S133S NM_152343 NP_689556 Q96LK8 CQ046_HUMAN Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA. 154 AGAGGTGCTTGGAGGTCTGCG 0.582000 48 32 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99693081 99693082 + Missense_Mutation DNP GT AA AA TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:99693081_99693082GT>AA uc003usw.1 - 11 2117_2118 c.1607_1608AC>TT c.(1606-1608)cac>cTT p.H536L MCM7_uc003usv.1_Missense_Mutation_p.H360L|MCM7_uc003usx.1_Missense_Mutation_p.H360L|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA. 536 Interaction with RAD17.|MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus MCM complex|chromatin ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CATAGGTGATGTGCTGGGCCAA 0.579000 37 7 0 0 1 0 0 PDCD1 5133 broad.mit.edu 37 2 242793294 242793294 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:242793294G>A uc002wcq.4 - 4 851 c.783C>T c.(781-783)tcC>tcT p.S261S PDCD1_uc010fzs.3_Silent_p.S140S|PDCD1_uc010fzt.3_Non-coding_Transcript NM_005018 NP_005009 Q15116 PDCD1_HUMAN Homo sapiens programmed cell death 1 (PDCD1), mRNA. 261 T cell costimulation|apoptosis|humoral immune response|multicellular organismal development integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) TGCGGGCGGGGGATGAGGTGC 0.662000 34 20 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66063092 66063092 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:66063092G>A uc001ohl.3 + 1 1487 c.1375G>A c.(1375-1377)Ggc>Agc p.G459S NM_153266 NP_694998 Q8N4L1 T151A_HUMAN Homo sapiens transmembrane protein 151A (TMEM151A), mRNA. 459 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 CGGAGACAGCGGCTGCCAGGG 0.682000 10 8 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711613 155711613 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:155711613G>A uc002tyv.1 + 2 1489 c.1294G>A c.(1294-1296)Gac>Aac p.D432N KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 432 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CAGCTTGGGAGACTTGCCCAT 0.413000 50 45 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64684512 64684512 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:64684512C>T uc002jfo.1 + 7 884 c.392C>T c.(391-393)tCc>tTc p.S131F PRKCA_uc002jfp.1_Missense_Mutation_p.S260F P17252 KPCA_HUMAN Homo sapiens protein kinase C, alpha (PRKCA), mRNA. 260 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGATCCCTTTCCTTTGGAGTT 0.463000 34 22 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24413262 24413262 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:24413262G>A uc001bin.4 - 14 1833 c.1670C>T c.(1669-1671)tCc>tTc p.S557F MYOM3_uc001bim.4_Missense_Mutation_p.S214F|MYOM3_uc001bio.3_Missense_Mutation_p.S557F|MYOM3_uc001bip.1_Missense_Mutation_p.S214F NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 557 Fibronectin type-III 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GAATCTCGGGGATCTCACAGG 0.557000 45 26 0 0 1 0 0 PTPN7 5778 broad.mit.edu 37 1 202123317 202123317 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:202123317C>T uc001gxn.2 - 5 1699 c.603G>A c.(601-603)aaG>aaA p.K201K PTPN7_uc001gxl.2_Silent_p.K240K|PTPN7_uc001gxm.2_Silent_p.K306K|PTPN7_uc010ppx.2_Silent_p.K275K|PTPN7_uc010ppw.2_Silent_p.K149K|PTPN7_uc010ppy.2_Intron|PTPN7_uc001gxo.1_Silent_p.K153K NM_002832 NP_002823 P35236 PTN7_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA. 201 Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1) 13 CTCCTACCTCCTTGCCCTCTC 0.592000 21 37 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7845570 7845570 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:7845570C>T uc001aop.3 + 1 422 c.198C>T c.(196-198)ttC>ttT p.F66F PER3_uc009vmg.1_Silent_p.F66F|PER3_uc009vmh.1_Silent_p.F66F|PER3_uc001aoo.3_Silent_p.F66F|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.F66F NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity p.F66V(1) breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) AAAAATACTTCCCCTCGGAGA 0.413000 31 24 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70065275 70065275 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:70065275G>A uc001svg.3 - 8 1260 c.1033C>T c.(1033-1035)Cca>Tca p.P345S BEST3_uc001svd.2_Missense_Mutation_p.P345S|BEST3_uc001svf.3_Missense_Mutation_p.P132S|BEST3_uc010stm.2_Missense_Mutation_p.P239S NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 345 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTGTATGGTGGGCGAGCAGCA 0.423000 40 23 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326774 152326774 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:152326774G>A uc001ezw.4 - 2 3561 c.3488C>T c.(3487-3489)tCa>tTa p.S1163L AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1163 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACAGCCAGATGATTGACTGGA 0.488000 62 103 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28841264 28841264 + Silent SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:28841264T>C uc001urz.3 + 10 1758 c.1606T>C c.(1606-1608)Ttg>Ctg p.L536L PAN3_uc010tdo.1_Silent_p.L536L|PAN3_uc001ury.3_Silent_p.L224L|PAN3_uc001urx.3_Silent_p.L336L NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 536 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GTGCATGGTGTTGGTCGACAT 0.378000 38 26 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163144837 163144837 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:163144837G>A uc002uce.3 - 4 1125 c.903C>T c.(901-903)tcC>tcT p.S301S NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 301 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CTGGCTCCGGGGATGCTCTTG 0.473000 22 13 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50407222 50407222 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:50407222G>A uc002xwh.4 - 1 1901 c.1800C>T c.(1798-1800)ggC>ggT p.G600G SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 600 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AAAAGGCTCGGCCACAGATCT 0.517000 26 29 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21862493 21862493 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:21862493G>A uc001war.2 - 29 5607 c.5542C>T c.(5542-5544)Cat>Tat p.H1848Y CHD8_uc001was.2_Missense_Mutation_p.H1569Y|SNORD9_uc001wat.1_5'Flank NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 1848 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACAAAGCCATGGAAGTACTTG 0.512000 28 24 0 0 1 0 0 FABP6 2172 broad.mit.edu 37 5 159640801 159640801 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:159640801G>A uc003lxx.1 + 2 256 c.110G>A c.(109-111)aGa>aAa p.R37K FABP6_uc003lxz.1_Missense_Mutation_p.R37K NM_001130958 NP_001436 P51161 FABP6_HUMAN Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 3, mRNA. 0 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACCTGCAGAGAATGAAACAG 0.473000 30 21 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58196065 58196065 + Missense_Mutation SNP G T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:58196065G>T uc001sqj.2 - 15 2058 c.2029C>A c.(2029-2031)Cag>Aag p.Q677K TSFM_uc021qzq.1_Intron|AVIL_uc009zqe.2_Missense_Mutation_p.Q670K|AVIL_uc001sqk.1_Missense_Mutation_p.Q255K NM_006576 NP_006567 O75366 AVIL_HUMAN Homo sapiens advillin (AVIL), mRNA. 677 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) TGCAGGTACTGCTGTGCTGTG 0.537000 8 9 1.58986e-06 1.59747e-06 1 1 0 EVC2 132884 broad.mit.edu 37 4 5642528 5642528 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:5642528G>A uc003gij.3 - 9 1237 c.1183C>T c.(1183-1185)Ctg>Ttg p.L395L EVC2_uc003gik.3_Silent_p.L315L|EVC2_uc011bwb.2_5'UTR NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 395 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 caagCCTCCAGATCTGCATCT 0.433000 40 33 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C A A rs4041777 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:11012916C>A uc002yis.1 - 9 c.1704_splice c.e9+1 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATTTTACCTAGCTTTTT 0.299000 18 10 6.40141e-05 6.41669e-05 1 1 0 MYH2 4620 broad.mit.edu 37 17 10428920 10428920 + Nonsense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:10428920C>T uc010coi.3 - 31 4513 c.4385G>A c.(4384-4386)tGg>tAg p.W1462* AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.W1462*|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1462 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTTCTGTTTCCATTCTGCCAG 0.468000 26 22 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136073 40136073 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:40136073G>A uc021qgf.1 - 0 1770 c.1770C>T c.(1768-1770)atC>atT p.I590I LRRC4C_uc001mxc.1_Silent_p.I586I|LRRC4C_uc001mxd.1_Silent_p.I586I|LRRC4C_uc001mxa.1_Silent_p.I590I|LRRC4C_uc001mxb.1_Silent_p.I586I NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 590 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCTCATGCTCGATAGCAGGCA 0.423000 56 43 0 0 1 0 0 C19orf55 148137 broad.mit.edu 37 19 36259305 36259305 + Splice_Site SNP G T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:36259305G>T uc021usz.1 + 12 1375 c.1302_splice c.e12-1 p.R434_splice NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA. 434 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTTTCTCCAGGGAAGCGGAT 0.632000 18 10 1.76689e-08 1.78818e-08 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58386284 58386284 + Silent SNP T C C rs148592080 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:58386284T>C uc002qqo.2 - 2 746 c.474A>G c.(472-474)gcA>gcG p.A158A ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 158 A -> V (in Ref. 1; BAH13293). regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 TACACCTCTTTGCAAACAACG 0.493000 10 5 0 0 1 0 0 TRIM46 80128 broad.mit.edu 37 1 155156314 155156314 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:155156314C>T uc001fhs.1 + 9 2011 c.1928C>T c.(1927-1929)gCc>gTc p.A643V TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.A517V|TRIM46_uc001fhu.1_Missense_Mutation_p.A620V|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN Homo sapiens tripartite motif containing 46 (TRIM46), mRNA. 643 B30.2/SPRY. intracellular zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 29 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCCGAGGATGCCACAGTGGAG 0.632000 54 57 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344193 248344193 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:248344193G>A uc010pzf.2 + 0 906 c.906G>A c.(904-906)atG>atA p.M302I NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GAGCATTCATGAAGATCTTAG 0.423000 95 147 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881796 69881796 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:69881796G>A uc001jnm.4 + 2 786 c.601G>A c.(601-603)Gat>Aat p.D201N MYPN_uc001jnl.1_Missense_Mutation_p.D201N|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.D201N|MYPN_uc001jnp.1_Missense_Mutation_p.D201N|MYPN_uc009xps.3_Missense_Mutation_p.D201N|MYPN_uc009xpt.3_Missense_Mutation_p.D201N|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 201 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CAGTTTCTCAGATCTGTCAGA 0.463000 5 17 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43279754 43279754 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:43279754G>A uc002yzq.1 - 8 1089 c.978C>T c.(976-978)ccC>ccT p.P326P PRDM15_uc002yzo.3_Silent_p.P63P|PRDM15_uc002yzp.3_Silent_p.P63P|PRDM15_uc002yzr.1_Silent_p.P63P NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGCCCAGCTCGGGACATTCGG 0.582000 26 12 0 0 1 0 0 C6orf195 154386 broad.mit.edu 37 6 2623880 2623880 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:2623880G>A uc003mtw.2 - 2 1162 c.177C>T c.(175-177)tcC>tcT p.S59S C6orf195_uc021ykp.1_Silent_p.S59S NM_152554 NP_689767 Q96MT4 CF195_HUMAN Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA. 59 cervix(1)|endometrium(1)|lung(2)|skin(1) 5 Ovarian(93;0.0412) all_hematologic(90;0.0895) ACCCGGGAGGGGAGAGGAGCC 0.617000 52 65 0 0 1 0 0 SBK1 388228 broad.mit.edu 37 16 28331906 28331906 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:28331906C>T uc002dpd.3 + 3 1728 c.939C>T c.(937-939)ctC>ctT p.L313L NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 313 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 TCCGCTTCCTCAAGCACGAGC 0.766000 3 7 0 0 1 0 0 STOM 2040 broad.mit.edu 37 9 124116909 124116909 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:124116909G>A uc004blh.3 - 2 288 c.208C>T c.(208-210)Cgc>Tgc p.R70C STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Missense_Mutation_p.R19C NM_004099 NP_004090 P27105 STOM_HUMAN Homo sapiens stomatin (STOM), transcript variant 1, mRNA. 70 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) TGTAAAATGCGACCCAATCTA 0.299000 26 22 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56057994 56057994 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:56057994G>A uc010rje.2 - 0 545 c.545C>T c.(544-546)cCa>cTa p.P182L NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) AGCTAAAATTGGAGACGTGTC 0.423000 46 30 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570712 104570712 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:104570712C>T uc001yop.2 + 7 910 c.825C>T c.(823-825)acC>acT p.T275T ASPG_uc001yoo.2_Silent_p.T303T|ASPG_uc001yoq.2_Silent_p.T275T|ASPG_uc001yor.2_Silent_p.T275T NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA. 275 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 ACGGACCCACCAAGCCCGACC 0.667000 25 15 0 0 1 0 0 C2orf61 285051 broad.mit.edu 37 2 47380147 47380147 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:47380147G>A uc010yog.2 - 1 217 c.90C>T c.(88-90)gcC>gcT p.A30A C2orf61_uc010fbd.3_Non-coding_Transcript|C2orf61_uc002rvs.2_Silent_p.A30A NM_001163561 NP_001157033 Q8N801 CB061_HUMAN Homo sapiens chromosome 2 open reading frame 61 (C2orf61), transcript variant 1, mRNA. 30 p.0?(2) endometrium(1)|kidney(1)|lung(2) 4 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) AAGTCTTTTGGGCTGGTTTCT 0.318000 16 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441453 179441453 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:179441453C>T uc021vsy.1 - 273 62039 c.61814G>A c.(61813-61815)gGa>gAa p.G20605E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14300E|TTN_uc021vta.1_Missense_Mutation_p.G14233E|TTN_uc021vtb.1_Missense_Mutation_p.G14108E|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21532 Fibronectin type-III 49. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L20605I(1) 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) TACATGATATCCTGTAATTTC 0.463000 88 67 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769687 13769687 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:13769687C>T uc003jfd.2 - 56 9685 c.9643G>A c.(9643-9645)Gag>Aag p.E3215K DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3215 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) GCAACAGACTCTGAAGCTTCT 0.428000 Kartagener syndrome 86 6 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17654439 17654439 + Splice_Site SNP A G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:17654439A>G uc021uqj.1 + 13 1785 c.1647_splice c.e13+1 p.K549_splice FAM129C_uc021uqi.1_Splice_Site_p.K549_splice|FAM129C_uc002ngy.4_Splice_Site_p.K275_splice|FAM129C_uc010xpu.2_Splice_Site_p.K275_splice|FAM129C_uc002ngz.4_Splice_Site|FAM129C_uc010eaw.3_Intron|FAM129C_uc002nhb.3_Missense_Mutation_p.K178R NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA. 549 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GGCTGCAAAAAGGTGAGTTAA 0.532000 11 6 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111679871 111679871 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:111679871G>A uc004bdm.4 - 8 1340 c.820C>T c.(820-822)Ctt>Ttt p.L274F IKBKAP_uc004bdl.3_5'UTR|IKBKAP_uc011lwc.2_Missense_Mutation_p.L160F|IKBKAP_uc010mtq.3_5'UTR NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 274 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity p.L273L(1) NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGTCCATGAAGGAGTCCATTT 0.408000 36 26 0 0 1 0 0 SCARF1 8578 broad.mit.edu 37 17 1538237 1538237 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:1538237C>T uc002fsz.1 - 10 2358 c.2308G>A c.(2308-2310)Gca>Aca p.A770T SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.A684T NM_003693 NP_003684 Q14162 SREC_HUMAN Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA. 770 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGTCTGACTGCCATAGGCCCT 0.652000 14 17 0 0 1 0 0 GUK1 2987 broad.mit.edu 37 1 228335363 228335363 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:228335363G>A uc021pkf.1 + 5 576 c.501G>A c.(499-501)gtG>gtA p.V167V GUK1_uc021pke.1_Silent_p.V146V|GUK1_uc001hsj.3_Silent_p.V86V|GUK1_uc001hsh.3_Silent_p.V146V|GUK1_uc001hsi.3_Silent_p.V167V|GUK1_uc010pvv.2_Silent_p.V146V|GJC2_uc001hsk.3_5'Flank NM_001242840 NP_001229769 Q16774 KGUA_HUMAN Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA. 146 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) AGAGCCTGGTGAAGCGGCTGG 0.647000 75 4 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73335837 73335837 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:73335837G>A uc001vix.4 - 17 2832 c.2458C>T c.(2458-2460)Cgg>Tgg p.R820W DIS3_uc001viy.4_Missense_Mutation_p.R790W|DIS3_uc001viz.3_Non-coding_Transcript NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA. 820 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTTTGTGCCGGAAATTTAGA 0.408000 Multiple Myeloma(4;0.011) 60 4 0 0 1 0 0 LRRC41 10489 broad.mit.edu 37 1 46746939 46746939 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:46746939C>T uc001cpn.3 - 4 1658 c.1614G>A c.(1612-1614)gaG>gaA p.E538E LRRC41_uc010omb.2_Silent_p.E538E NM_006369 NP_006360 Q15345 LRC41_HUMAN Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA. 538 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CACGTGTCAGCTCCAGGATGG 0.632000 33 27 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45656192 45656192 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:45656192G>A uc001zvc.3 - 7 1394 c.1065C>T c.(1063-1065)tcC>tcT p.S355S GATM_uc001zvb.3_Silent_p.S226S|GATM_uc010uev.1_Silent_p.S408S NM_001482 NP_001473 P50440 GATM_HUMAN Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA. 355 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) AAAGCCATTTGGATGACATCC 0.353000 31 18 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752311 36752311 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:36752311C>T uc001cae.4 + 3 704 c.480C>T c.(478-480)tcC>tcT p.S160S THRAP3_uc001caf.4_Silent_p.S160S|THRAP3_uc001cag.1_Silent_p.S160S NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 160 Arg-rich.|Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCTCATCCTCCCGTTCTTCCT 0.537000 T USP6 aneurysmal bone cysts 187 130 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54756804 54756804 + Silent SNP G A A rs139744787 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:54756804G>A uc010yer.1 - 8 1488 c.1377C>T c.(1375-1377)ttC>ttT p.F459F LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.F468F|LILRB5_uc002qez.3_Silent_p.F368F|LILRB5_uc002qex.3_Silent_p.F467F|LILRB5_uc002qfa.1_3'UTR O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 467 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCAGCAGGACGAAGGCCACTG 0.592000 7 42 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136917538 136917538 + Missense_Mutation SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:136917538T>C uc004cew.3 - 2 429 c.241A>G c.(241-243)Atg>Gtg p.M81V BRD3_uc004cex.2_Missense_Mutation_p.M81V NM_007371 NP_031397 Q15059 BRD3_HUMAN Homo sapiens bromodomain containing 3 (BRD3), mRNA. 81 Bromo 1. nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CCCATATCCATTGGGTTTTTA 0.323000 T C15orf55 lethal midline carcinoma of young people 26 16 0 0 1 0 0 GALNT14 79623 broad.mit.edu 37 2 31133827 31133827 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:31133827G>A uc002rns.3 - 15 2254 c.1614C>T c.(1612-1614)atC>atT p.I538I GALNT14_uc002rnq.3_Silent_p.I513I|GALNT14_uc010ymr.2_Silent_p.I498I|GALNT14_uc002rnr.3_Silent_p.I533I NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 533 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) GGTTGACGACGATTTCCTTGC 0.557000 29 25 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1963158 1963158 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:1963158G>A uc021qsx.1 - 22 2436 c.2205C>T c.(2203-2205)ccC>ccT p.P735P CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.P599P|CACNA2D4_uc009zdr.2_Non-coding_Transcript NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA. 735 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.P735P(2) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) AGGCTTCCATGGGGGCTGTCA 0.612000 20 10 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855612 2855612 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:2855612C>T uc022aqr.1 - 53 8688 c.8298G>A c.(8296-8298)acG>acA p.T2766T CSMD1_uc011kwj.2_Silent_p.T2096T|CSMD1_uc010lrg.3_Silent_p.T777T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2767 Sushi 19. integral to membrane p.T2766T(1)|p.T2495T(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCAAATAGCCCGTGTTGCAGG 0.557000 33 25 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807596 143807596 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:143807596G>A uc011ktz.2 + 0 921 c.921G>A c.(919-921)aaG>aaA p.K307K NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TCCAGAGGAAGAGGTCCATGA 0.428000 203 36 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156347822 156347822 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:156347822C>T uc010pho.2 + 2 454 c.416C>T c.(415-417)tCc>tTc p.S139F RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.S70F|RHBG_uc009wrz.3_Missense_Mutation_p.S70F|RHBG_uc001for.3_Missense_Mutation_p.S109F NM_020407 NP_065140 Q9H310 RHBG_HUMAN Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA. 139 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GTGCTCATCTCCTTTGGTGCC 0.602000 57 57 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43052848 43052848 + Silent SNP C T T rs142268325 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:43052848C>T uc002xma.3 + 7 1172 c.1083C>T c.(1081-1083)ttC>ttT p.F361F HNF4A_uc002xlt.3_Silent_p.F339F|HNF4A_uc002xlu.3_Silent_p.F339F|HNF4A_uc002xlv.3_Silent_p.F339F|HNF4A_uc002xly.3_Silent_p.F361F|HNF4A_uc010ggq.3_Silent_p.F354F|HNF4A_uc002xlz.3_Silent_p.F361F NM_000457 NP_000448 P41235 HNF4A_HUMAN Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA. 361 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCAAGCTCTTCGGCATGGCCA 0.607000 18 11 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415094 105415094 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:105415094G>A uc010axc.1 - 6 6814 c.6694C>T c.(6694-6696)Ctc>Ttc p.L2232F AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2132F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 2232 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGCCCTTTGAGGCCGACTTCC 0.617000 101 86 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55512301 55512301 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:55512301G>A uc001cyf.2 + 2 867 c.505G>A c.(505-507)Gat>Aat p.D169N PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 169 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GTACCGGGCGGATGAATACCA 0.622000 21 11 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100237264 100237264 + Missense_Mutation SNP G T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:100237264G>T uc003hus.4 - 4 442 c.358C>A c.(358-360)Cct>Act p.P120T ADH1B_uc003hut.4_Missense_Mutation_p.P80T|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.P80T NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 120 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.P120H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTCCCCCGAGGATTGCCTAGA 0.542000 26 11 1.08611e-07 1.09392e-07 1 1 0 AKR7A3 22977 broad.mit.edu 37 1 19611602 19611603 + Missense_Mutation DNP AC TT TT TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:19611602_19611603AC>TT uc001bbv.1 - 3 590_591 c.513_514GT>AA c.(511-516)atgtac>atAAac p.171_172MY>IN NM_012067 NP_036199 O95154 ARK73_HUMAN Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA. 171 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ATGGCATTGTACATGCCCTGTA 0.535000 27 24 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410169 159410169 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:159410169C>T uc010piv.2 + 0 658 c.621C>T c.(619-621)atC>atT p.I207I BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 207 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCAATGAAATCCTGACTTTGA 0.438000 129 56 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96127814 96127814 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:96127814C>T uc003kmm.3 - 7 1617 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K ERAP1_uc003kml.3_Missense_Mutation_p.E424K|ERAP1_uc010jbm.2_Missense_Mutation_p.E236K|ERAP1_uc003kmn.3_Missense_Mutation_p.E424K NM_001040458 NP_001185470 Q9NZ08 ERAP1_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA. 424 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GCAGGATTTTCCACAGGTGTA 0.358000 53 28 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3118921 3118921 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:3118921G>A uc010vrc.2 + 0 7 c.7G>A c.(7-9)Gaa>Aaa p.E3K NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 AGCCATGAGGGAAAATAACCA 0.403000 30 10 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178408731 178408731 + Missense_Mutation SNP C T T rs145110689 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:178408731C>T uc003mjr.3 - 9 2740 c.2561G>A c.(2560-2562)cGa>cAa p.R854Q GRM6_uc003mjq.3_Missense_Mutation_p.R257Q NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 854 detection of visible light|visual perception integral to plasma membrane p.R854*(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCTCCGCTTTCGCTTCTGCAC 0.612000 63 51 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27421956 27421956 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:27421956C>T uc002hdt.1 - 28 4665 c.4507G>A c.(4507-4509)Gag>Aag p.E1503K MYO18A_uc010wbc.1_Missense_Mutation_p.E1045K|MYO18A_uc002hds.2_Missense_Mutation_p.E1045K|MYO18A_uc010csa.1_Missense_Mutation_p.E1503K|MYO18A_uc002hdu.1_Missense_Mutation_p.E1503K|MYO18A_uc010wbd.1_Missense_Mutation_p.E1172K NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 1503 DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTACCCACCTCTAGTTGCTGC 0.617000 15 12 0 0 1 0 0 ZFP106 64397 broad.mit.edu 37 15 42742899 42742899 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:42742899G>A uc001zpw.3 - 1 1829 c.1502C>T c.(1501-1503)cCt>cTt p.P501L ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P284L|ZFP106_uc001zpy.1_Missense_Mutation_p.P524L NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 501 nucleolus zinc ion binding p.P501S(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GGATATGTAAGGACCATGGTT 0.363000 90 68 0 0 1 0 0 SEC23B 10483 broad.mit.edu 37 20 18505092 18505092 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:18505092C>T uc002wra.2 + 4 843 c.382C>T c.(382-384)Cct>Tct p.P128S SEC23B_uc010zsb.2_Intron|SEC23B_uc002wrb.2_Missense_Mutation_p.P128S|SEC23B_uc002wqz.2_Missense_Mutation_p.P128S|SEC23B_uc002wrc.2_Missense_Mutation_p.P128S NM_032985 NP_116781 Q15437 SC23B_HUMAN Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA. 128 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 TGCTCAGTCCCCTCTGATCTT 0.428000 42 31 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28588421 28588421 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:28588421C>T uc002kwj.4 - 9 1489 c.1334G>A c.(1333-1335)aGa>aAa p.R445K DSC3_uc002kwi.4_Missense_Mutation_p.R445K NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 445 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GGGAATATCTCTAGCAAATGG 0.438000 40 19 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086282 56086282 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:56086282C>T uc010rjf.2 + 0 500 c.500C>T c.(499-501)tCc>tTc p.S167F NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTTACTTTATCCTTCTGTGGC 0.373000 27 21 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12502142 12502142 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:12502142C>T uc010dyt.3 - 3 1274 c.1070G>A c.(1069-1071)aGa>aAa p.R357K ZNF799_uc002mts.4_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN Homo sapiens zinc finger protein 799 (ZNF799), mRNA. 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 AGTGTGAGTTCTTTCATGACT 0.413000 60 38 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263570 39263570 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:39263570G>A uc001uwv.3 + 0 2398 c.2089G>A c.(2089-2091)Gat>Aat p.D697N NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 697 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCATCCTGTGGATCGCCTCCC 0.557000 39 33 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868835 201868835 + Missense_Mutation SNP C G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:201868835C>G uc021phl.1 - 1 1554 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q LMOD1_uc021phm.1_Missense_Mutation_p.E436Q|LMOD1_uc010ppu.2_Missense_Mutation_p.E385Q NM_012134 NP_036266 P29536 LMOD1_HUMAN Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA. 436 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTGGCGATCTCCATCTCCGTC 0.592000 19 45 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56165323 56165323 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:56165323C>T uc002lhj.4 - 11 6468 c.6254G>A c.(6253-6255)gGa>gAa p.G2085E NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 2085 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TAGCTTCATTCCTACACCTAC 0.493000 43 35 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3688687 3688688 + Missense_Mutation DNP GG AA AA TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:3688687_3688688GG>AA uc001lyf.3 - 3 741_742 c.669_670CC>TT c.(667-672)tacccc>taTTcc p.P224S CHRNA10_uc010qxt.2_Missense_Mutation_p.P18S|CHRNA10_uc010qxu.2_Missense_Mutation_p.P18S NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA. 224 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) GTGACGTCGGGGTAGGGCTCGG 0.723000 20 11 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22952108 22952108 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:22952108C>T uc021urt.1 - 1 177 c.22G>A c.(22-24)Gat>Aat p.D8N NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ATGGTCACATCCCAAAATGTC 0.393000 35 25 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48193070 48193070 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:48193070G>A uc002iqf.3 - 6 979 c.680C>T c.(679-681)tCc>tTc p.S227F SAMD14_uc002iqe.3_Missense_Mutation_p.S10F|SAMD14_uc002iqg.3_Missense_Mutation_p.S227F NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA. 227 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 TGACCTGCCGGACCCCTCCAC 0.662000 76 61 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21802475 21802475 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:21802475G>A uc010iuc.2 - 6 1515 c.1057C>T c.(1057-1059)Ctt>Ttt p.L353F CDH12_uc011cno.1_Missense_Mutation_p.L313F|CDH12_uc003jgk.2_Missense_Mutation_p.L353F NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 353 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCAAGGTGAAGGTTGGAAGCC 0.438000 HNSCC(59;0.17) 31 17 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12380020 12380020 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:12380020G>A uc001mkg.1 + 8 2373 c.2082G>A c.(2080-2082)agG>agA p.R694R NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN Homo sapiens MICAL C-terminal like (MICALCL), mRNA. 694 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AGCTGAGCAGGACTTGAGGAG 0.537000 75 78 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18062612 18062612 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:18062612C>T uc021trm.1 + 52 9399 c.9180C>T c.(9178-9180)atC>atT p.I3060I MYO15A_uc021trl.1_Silent_p.I3058I|MYO15A_uc010vxi.2_Silent_p.I324I|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Silent_p.I49I|MYO15A_uc002gsl.3_5'UTR|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.3_5'Flank NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 3060 MyTH4 2.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AATCCCTCATCGAACTCAGCG 0.592000 23 16 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65732014 65732014 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:65732014C>T uc001ogl.3 + 2 492 c.400C>T c.(400-402)Ccc>Tcc p.P134S SART1_uc010rot.1_5'UTR NM_005146 NP_005137 O43290 SNUT1_HUMAN Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA. 134 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGGGCTGAAACCCTTGGAGGT 0.498000 33 25 0 0 1 0 0 ATAD3A 55210 broad.mit.edu 37 1 1460671 1460671 + Splice_Site SNP C A A rs149995099 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:1460671C>A uc001afz.2 + 12 1536 c.1410_splice c.e12+1 p.T470_splice ATAD3A_uc001aga.2_Splice_Site_p.T422_splice|ATAD3A_uc001agb.2_Splice_Site_p.T343_splice NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 470 ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) AGCGAGCCACCGTGAGTGTCA 0.612000 63 42 8.72198e-27 8.86981e-27 1 1 0 SGCE 8910 broad.mit.edu 37 7 94230005 94230005 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:94230005G>A uc011kid.1 - 7 1209 c.1098C>T c.(1096-1098)gtC>gtT p.V366V SGCE_uc003unm.2_Silent_p.V330V|SGCE_uc003unl.2_Silent_p.V330V|SGCE_uc003unn.2_Silent_p.V330V|SGCE_uc011kic.1_Silent_p.V289V NM_003919 NP_003910 O43556 SGCE_HUMAN Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA. 330 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding p.Q365*(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TTAGAAAAAGGACCAGTGCCA 0.418000 22 9 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40339314 40339314 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:40339314G>A uc003gva.1 + 2 314 c.298G>A c.(298-300)Gat>Aat p.D100N NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 100 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) AGATCAGTACGATGGCCTAGA 0.483000 21 18 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342395 29342395 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:29342395G>A uc003nme.3 - 0 674 c.670C>T c.(670-672)Ctg>Ttg p.L224L NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TTCTTAAACAGAAGGAAGCCA 0.448000 60 22 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686621 54686621 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:54686621C>T uc009znk.3 - 1 1169 c.659G>A c.(658-660)gGg>gAg p.G220E NFE2_uc001sfq.3_Missense_Mutation_p.G220E|NFE2_uc001sfr.4_Missense_Mutation_p.G220E|NFE2_uc009znl.3_Missense_Mutation_p.G220E NM_006163 NP_006154 Q16621 NFE2_HUMAN Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA. 220 blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter PML body|actin cytoskeleton|cytoplasm WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 CCCTGCCTCCCCCCGTGCAGT 0.572000 24 15 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853681 122853681 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:122853681C>T uc003ieg.2 - 1 806 c.732G>A c.(730-732)caG>caA p.Q244Q TRPC3_uc010inr.2_Silent_p.Q171Q|TRPC3_uc003ief.2_Silent_p.Q171Q|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 159 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTTCGTATTTCTGGCAGTGCG 0.612000 31 30 0 0 1 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864826 22864826 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:22864826C>T uc003xcp.2 + 6 1417 c.1134C>T c.(1132-1134)ggC>ggT p.G378G RHOBTB2_uc011kzp.1_Silent_p.G363G|RHOBTB2_uc003xcq.2_Silent_p.G356G|BC043400_uc003xcr.3_Non-coding_Transcript NM_001160036 NP_055993 Q9BYZ6 RHBT2_HUMAN Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA. 356 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) AGGCTGGGGGCTCCGGTCCTG 0.637000 52 37 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:123742403G>A uc004bkv.3 - 27 3646 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 1206 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.408000 33 22 0 0 1 0 0 CNNM3 26505 broad.mit.edu 37 2 97494860 97494860 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:97494860C>T uc002swy.3 + 6 2072 c.2048C>T c.(2047-2049)aCc>aTc p.T683I CNNM3_uc002swz.3_Missense_Mutation_p.T635I NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA. 683 ion transport integral to membrane|plasma membrane protein binding NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2) 13 GAGAAGACCACCACAGCGGCA 0.622000 20 16 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471266 4471266 + Nonsense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:4471266C>T uc001lyz.2 + 0 742 c.697C>T c.(697-699)Cag>Tag p.Q233* NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q233*(2) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTTGCCTCTCAGGAGGCCCG 0.478000 91 81 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111494584 111494584 + Missense_Mutation SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:111494584T>C uc001eaa.3 - 1 1178 c.922A>G c.(922-924)Aag>Gag p.K308E LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA. 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TTTGAAGACTTAACAGGAACA 0.358000 22 40 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56573474 56573474 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:56573474G>A uc002iwj.2 - 15 2139 c.2029C>T c.(2029-2031)Cct>Tct p.P677S NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 677 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCAGAGGAGGAGGAAGACCC 0.517000 56 57 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33923424 33923424 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:33923424G>A uc003ztq.1 - 24 2962 c.2849C>T c.(2848-2850)cCt>cTt p.P950L UBAP2_uc011loc.1_Missense_Mutation_p.P859L|UBAP2_uc011lod.1_Missense_Mutation_p.P683L|UBAP2_uc011loe.1_Missense_Mutation_p.P705L|UBAP2_uc011lof.1_Missense_Mutation_p.P875L|UBAP2_uc003ztn.1_Missense_Mutation_p.P189L|UBAP2_uc003zto.1_Missense_Mutation_p.P189L|UBAP2_uc003ztp.2_Missense_Mutation_p.P189L NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA. 950 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CTGGAAGGGAGGTGTGGGAGT 0.587000 195 123 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7636240 7636240 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:7636240G>A uc001qsz.3 - 11 2939 c.2811C>T c.(2809-2811)tcC>tcT p.S937S CD163_uc001qta.3_Silent_p.S937S|CD163_uc009zfw.2_Silent_p.S970S NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 937 SRCR 9. 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 GTCCAGAACAGGAAGTGGGTC 0.468000 18 14 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3392243 3392243 + Silent SNP C T T rs147425056 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:3392243C>T uc002qxm.1 + 1 1055 c.849C>T c.(847-849)atC>atT p.I283I TRAPPC12_uc002qxn.1_Silent_p.I283I|TRAPPC12_uc010ewm.1_Silent_p.I283I NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA. 283 binding TCGCGCACATCCAGGCAGTGT 0.716000 10 18 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032387 55032387 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:55032387C>T uc010rid.2 + 1 142 c.56C>T c.(55-57)tCt>tTt p.S19F NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN Homo sapiens tripartite motif containing 48 (TRIM48), mRNA. 3 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AACATGAATTCTGGAATCTCG 0.463000 119 118 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220423044 220423044 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:220423044C>T uc010fwk.3 - 9 3678 c.3364G>A c.(3364-3366)Gag>Aag p.E1122K OBSL1_uc002vmh.1_Missense_Mutation_p.E113K|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.E1122K NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 1122 Ig-like 9. cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TCTGATGCCTCCACTTCCAGC 0.682000 17 6 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42328426 42328426 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr20:42328426C>T uc002xlb.1 + 6 908 c.693C>T c.(691-693)gtC>gtT p.V231V MYBL2_uc010zwj.1_Silent_p.V207V NM_002466 NP_002457 P10244 MYBB_HUMAN Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA. 231 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGCCCTCCGTCCCTCCTACCA 0.493000 18 15 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716776 13716776 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:13716776G>A uc001rbt.2 - 12 3575 c.3396C>T c.(3394-3396)ttC>ttT p.F1132F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1132 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTCCAGGTAGAAGTCCCGTA 0.592000 36 31 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3741981 3741981 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:3741981C>T uc001lyh.3 - 16 2642 c.2221G>A c.(2221-2223)Gga>Aga p.G741R NUP98_uc001lyi.3_Missense_Mutation_p.G741R|NUP98_uc001lyj.2_Missense_Mutation_p.G741R|NUP98_uc001lyk.2_Missense_Mutation_p.G758R NM_016320 NP_057404 P52948 NUP98_HUMAN Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA. 758 Peptidase S59. DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ATGCACTCTCCTTTTTCATTG 0.333000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 24 14 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112676911 112676911 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:112676911G>A uc021reb.1 - 33 5229 c.4833C>T c.(4831-4833)gcC>gcT p.A1611A NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 AGGCAGCCCAGGCCATGGTGG 0.527000 28 25 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12984532 12984532 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:12984532C>T uc002mvm.3 + 25 3689 c.3561C>T c.(3559-3561)ctC>ctT p.L1187L NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 1187 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGCCAAAGCTCCATCGCCAGT 0.697000 13 12 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106897900 106897900 + Missense_Mutation SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:106897900T>C uc001tlp.3 + 26 3362 c.3140T>C c.(3139-3141)cTc>cCc p.L1047P LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.L989P NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 1047 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GGCTTGCGTCTCGGGGAAATG 0.418000 48 28 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48378023 48378023 + Missense_Mutation SNP G C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:48378023G>C uc002phr.2 - 4 776 c.636C>G c.(634-636)aaC>aaG p.N212K NM_003167 NP_003158 Q06520 ST2A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA. 212 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TGAGAATTAAGTTCAGTTCTT 0.393000 5 47 0 0 1 0 0 C19orf21 126353 broad.mit.edu 37 19 757739 757739 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:757739C>T uc002lpo.3 + 1 876 c.793C>T c.(793-795)Ccc>Tcc p.P265S NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 265 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) GCGTGCTGTGCCCACCTGGGC 0.647000 25 18 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263251 34263251 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:34263251G>A uc002nus.4 + 4 1063 c.558G>A c.(556-558)gtG>gtA p.V186V CHST8_uc002nut.4_Silent_p.V186V|CHST8_uc002nuu.3_Silent_p.V186V NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 186 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GTATCTTCGTGGAGGACCGCC 0.701000 47 39 0 0 1 0 0 C8orf73 642475 broad.mit.edu 37 8 144650333 144650333 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:144650333C>T uc010mff.3 - 10 1787 c.1743G>A c.(1741-1743)ctG>ctA p.L581L NM_001100878 NP_001094348 A6NGR9 CH073_HUMAN Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA. 581 binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGAGGTGGCTCAGGGCCTCGG 0.652000 10 6 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213056 21213056 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:21213056G>A uc010bwn.1 - 12 1647 c.1565C>T c.(1564-1566)cCa>cTa p.P522L ZP2_uc002dii.2_Missense_Mutation_p.P492L NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 492 ZP. binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CAAGGTAAATGGACCCAACTT 0.413000 57 47 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100832315 100832315 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:100832315C>T uc003yiv.3 + 48 9145 c.9034C>T c.(9034-9036)Cct>Tct p.P3012S VPS13B_uc003yiw.3_Missense_Mutation_p.P2987S NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3012 protein transport p.V3011D(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTACAGGTTCCTGCTGGCAA 0.348000 39 29 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196709832 196709832 + Missense_Mutation SNP C G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:196709832C>G uc002utj.4 - 46 8940 c.8839G>C c.(8839-8841)Gat>Cat p.D2947H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 2947 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGAGAGCAATCATCTGAGCAG 0.398000 22 8 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41385231 41385231 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr21:41385231G>A uc002yyq.1 - 32 6221 c.5769C>T c.(5767-5769)agC>agT p.S1923S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1923 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTGTCCTAAGCTCAGGTCCC 0.567000 41 21 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169677859 169677859 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:169677859G>A uc010pls.2 - 0 139 c.30C>T c.(28-30)tgC>tgT p.C10C C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Silent_p.C70C|SELL_uc001ggl.2_Silent_p.C70C NM_000655 NP_000646 P14151 LYAM1_HUMAN Homo sapiens selectin L (SELL), transcript variant 1, mRNA. 57 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) AATTGTCTCGGCAGAATCTTC 0.433000 6 8 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174200446 174200446 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:174200446C>T uc001gjx.3 + 3 772 c.495C>T c.(493-495)ccC>ccT p.P165P RABGAP1L_uc009wwq.2_Silent_p.P165P|RABGAP1L_uc001gjw.3_Silent_p.P128P NM_014857 NP_055672 Q5R372 RBG1L_HUMAN Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. 165 PID. regulation of protein localization Golgi apparatus|early endosome|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 GTCAATACCCCTTTCCTGTTA 0.408000 172 55 0 0 1 0 0 HLA-J 3137 broad.mit.edu 37 6 29977342 29977342 + Missense_Mutation SNP A T T rs116382006 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:29977342A>T uc021yty.1 + 4 388 c.370A>T c.(370-372)Agg>Tgg p.R124W HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA. TGGGACTGAGAGGCAAGATTT 0.438000 66 4 0 0 1 0 0 RPLP0 6175 broad.mit.edu 37 12 120634627 120634627 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:120634627C>T uc001txp.3 - 7 1140 c.903G>A c.(901-903)aaG>aaA p.K301K GCN1L1_uc001txo.3_5'Flank|RPLP0_uc001txr.3_Silent_p.K239K|RPLP0_uc001txq.3_Silent_p.K301K NM_053275 NP_444505 P05388 RLA0_HUMAN Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA. 301 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus RNA binding|protein binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGACTCTTCCTTGGCTTCAA 0.517000 23 24 0 0 1 0 0 UBAC2 337867 broad.mit.edu 37 13 99896856 99896856 + Missense_Mutation SNP G C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:99896856G>C uc010tiu.2 + 3 768 c.433G>C c.(433-435)Gct>Cct p.A145P UBAC2_uc001voa.4_Missense_Mutation_p.A123P|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Non-coding_Transcript|UBAC2_uc001vod.3_Missense_Mutation_p.A10P|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron NM_177967 NP_808882 Q8NBM4 UBAC2_HUMAN Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA. 123 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATCACTGCAGCTAGTAATTT 0.333000 16 8 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34474670 34474670 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:34474670C>T uc001mvm.3 + 4 603 c.514C>T c.(514-516)Cct>Tct p.P172S CAT_uc009ykc.1_Non-coding_Transcript NM_001752 NP_001743 P04040 CATA_HUMAN Homo sapiens catalase (CAT), mRNA. 172 UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process peroxisomal matrix|peroxisomal membrane NADP binding|catalase activity|heme binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) AAagagaaatcctcagacaca 0.383000 13 15 0 0 1 0 0 NCF1B 654816 broad.mit.edu 37 7 72639986 72639986 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:72639986G>A uc011ker.1 + 3 300 c.223G>A c.(223-225)Ggc>Agc p.G75S FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA. CGAGTACTGCGGCACGCTCAT 0.622000 153 5 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357199 104357199 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:104357199C>T uc004bbr.3 - 0 85 c.14G>A c.(13-15)gGa>gAa p.G5E GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA. 2 calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GGCCTCGTTTCCCATTGTGGA 0.587000 36 40 0 0 1 0 0 BYSL 705 broad.mit.edu 37 6 41900346 41900346 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:41900346C>T uc003orl.3 + 6 1552 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W NM_004053 NP_004044 Q13895 BYST_HUMAN Homo sapiens bystin-like (BYSL), mRNA. 406 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGAACTGCTCCGGCTGCAGCC 0.597000 109 57 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16275656 16275656 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:16275656C>T uc002nds.3 - 4 415 c.415G>A c.(415-417)Ggg>Agg p.G139R CIB3_uc010eae.3_Missense_Mutation_p.G78R|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.G90R NM_054113 NP_473454 Q96Q77 CIB3_HUMAN Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA. 139 G -> E (in dbSNP:rs6512087). calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GCACTCAGCCCCCCCCGCGTC 0.567000 51 24 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181727100 181727100 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:181727100C>T uc009wxt.3 + 30 4542 c.4347C>T c.(4345-4347)ttC>ttT p.F1449F CACNA1E_uc001gow.3_Silent_p.F1449F|CACNA1E_uc009wxs.3_Silent_p.F1430F|CACNA1E_uc001gox.1_Silent_p.F675F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1449 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.F1449F(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCATCGACTTCGCCATCAGCG 0.522000 52 77 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205031573 205031573 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:205031573G>A uc001hbr.3 + 9 1385 c.1116G>A c.(1114-1116)cgG>cgA p.R372R CNTN2_uc001hbq.1_Silent_p.R263R|CNTN2_uc001hbs.3_Silent_p.R160R NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 372 Ig-like C2-type 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CACAGAACCGGGTGGAGGTGT 0.617000 89 27 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68707496 68707496 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr12:68707496G>A uc001stz.2 - 9 1673 c.1537C>T c.(1537-1539)Ctt>Ttt p.L513F MDM1_uc009zqv.1_Missense_Mutation_p.L233F|MDM1_uc010stc.1_Missense_Mutation_p.L478F NM_017440 NP_059136 Q8TC05 MDM1_HUMAN Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA. 513 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GGAGTAGGAAGCCGGCCTCCT 0.408000 31 29 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27099905 27099905 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:27099905C>T uc001bmv.1 + 14 4157 c.3784C>T c.(3784-3786)Cgt>Tgt p.R1262C ARID1A_uc001bmt.1_Missense_Mutation_p.R1261C|ARID1A_uc001bmu.1_Missense_Mutation_p.R1262C|ARID1A_uc001bmw.1_Missense_Mutation_p.R879C|ARID1A_uc001bmx.1_Missense_Mutation_p.R108C|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1262 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.R1262H(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCCTACAGTCGTGCTGCCGG 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 31 28 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901540 13901540 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:13901540C>T uc003jfd.2 - 13 1915 c.1873G>A c.(1873-1875)Gga>Aga p.G625R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 625 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAATCTTTCCAGCGATGGGA 0.507000 Kartagener syndrome 14 5 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101844394 101844394 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr13:101844394G>A uc001vox.1 - 13 1827 c.1638C>T c.(1636-1638)tcC>tcT p.S546S NALCN_uc001voy.3_Silent_p.S261S|NALCN_uc001voz.2_Silent_p.S546S|NALCN_uc001vpa.2_Silent_p.S546S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 546 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTGGAACATGGACATAAATG 0.428000 12 11 0 0 1 0 0 LY6D 8581 broad.mit.edu 37 8 143866648 143866648 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:143866648G>A uc003yxf.1 - 2 452 c.376C>T c.(376-378)Ccc>Tcc p.P126S NM_003695 NP_003686 Q14210 LY6D_HUMAN Homo sapiens lymphocyte antigen 6 complex, locus D (LY6D), mRNA. 126 cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CACAGGCTGGGGGCTAAGATG 0.662000 19 5 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90450000 90450000 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:90450000G>A uc003pnn.1 - 31 4662 c.4546C>T c.(4546-4548)Cgt>Tgt p.R1516C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 1516 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.R1516C(2) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTAGAATACGAAATTTTTTC 0.408000 7 21 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875174 247875174 + Missense_Mutation SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:247875174T>C uc001idj.1 - 0 884 c.884A>G c.(883-885)aAg>aGg p.K295R NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TCTTACTTCCTTATTACGAAG 0.428000 107 40 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155099294 155099294 + Missense_Mutation SNP T G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:155099294T>G uc002tyt.4 + 3 666 c.562T>G c.(562-564)Tta>Gta p.L188V GALNT13_uc002tyr.4_Missense_Mutation_p.L188V|GALNT13_uc010foc.1_Missense_Mutation_p.L7V NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 188 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ACGCTCTGGGTTAATACGTGC 0.408000 20 15 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50870760 50870760 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:50870760G>A uc001jhz.2 + 13 2062 c.1909G>A c.(1909-1911)Gag>Aag p.E637K CHAT_uc001jhv.1_Missense_Mutation_p.E519K|CHAT_uc001jhx.1_Missense_Mutation_p.E519K|CHAT_uc001jhy.1_Missense_Mutation_p.E519K|CHAT_uc001jia.2_Missense_Mutation_p.E555K|CHAT_uc010qgs.1_Missense_Mutation_p.E519K NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 637 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.K636K(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CATGTGCAAGGAGCTGCCCGA 0.577000 7 55 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396604 38396604 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:38396604G>A uc022bgy.1 + 0 859 c.859G>A c.(859-861)Ggt>Agt p.G287S ALDH1B1_uc004aay.3_Missense_Mutation_p.G287S NM_000692 NP_000683 P30837 AL1B1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA. 287 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CCTGGAGCTGGGTGGTAAGAG 0.592000 34 26 0 0 1 0 0 PIM3 415116 broad.mit.edu 37 22 50354965 50354965 + Splice_Site SNP G T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:50354965G>T uc003bjb.3 + 3 649 c.196_splice c.e3-1 p.V66_splice PIM3_uc011arj.2_5'Flank NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN Homo sapiens pim-3 oncogene (PIM3), mRNA. 66 Protein kinase. cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) CGTCTCCGCAGGTGGCTGTGA 0.771000 20 7 0.361761 0.361761 1 1 0 GRIN3A 116443 broad.mit.edu 37 9 104449125 104449125 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr9:104449125G>A uc004bbp.2 - 1 1658 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C GRIN3A_uc004bbq.1_Missense_Mutation_p.R353C NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 353 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGCACCCAACGAAGTTCAGGG 0.512000 20 13 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3133098 3133098 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:3133098C>T uc021xkv.1 + 14 2217 c.2072C>T c.(2071-2073)tCg>tTg p.S691L NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 691 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.S691S(1) 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) TTATCTGCTTCGTTTTTGCTA 0.458000 27 19 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70450888 70450888 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr10:70450888C>T uc001jok.4 + 11 6233 c.5728C>T c.(5728-5730)Ctc>Ttc p.L1910F NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1910 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AGTGGCTCCTCTCCCCACCCT 0.587000 6 31 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152207 72152207 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:72152207C>T uc001xms.3 + 9 3594 c.3233C>T c.(3232-3234)tCa>tTa p.S1078L SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1078L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1078L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1078L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S553L NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 1078 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGGCCTCATTCACCTCAAGTC 0.507000 22 17 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 14110524 14110524 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:14110524C>T uc002gof.4 + 6 1530 c.1326C>T c.(1324-1326)ccC>ccT p.P442P COX10_uc010vvs.2_Silent_p.P225P|COX10_uc010vvt.2_Silent_p.P250P NM_001303 NP_001294 Q12887 COX10_HUMAN Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA. 442 heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GGCCCCCTCCCAGCTGAGAGC 0.632000 15 10 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18378061 18378061 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:18378061G>A uc002zng.4 - 9 1791 c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W MICAL3_uc011agl.2_Missense_Mutation_p.R480W|MICAL3_uc002znh.2_Missense_Mutation_p.R480W|MICAL3_uc002znj.1_Missense_Mutation_p.R180W|MICAL3_uc002znk.1_Missense_Mutation_p.R480W|MICAL3_uc002znl.1_Missense_Mutation_p.R113W|MICAL3_uc002znm.3_5'Flank|MICAL3_uc010grf.3_Missense_Mutation_p.R480W NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 480 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TGGCTTGGCCGGAGGAAGTTG 0.483000 15 8 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47398540 47398540 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr18:47398540C>T uc002leb.2 - 26 3888 c.3600G>A c.(3598-3600)ctG>ctA p.L1200L MYO5B_uc002lea.2_Silent_p.L341L|Y_RNA_uc021uka.1_5'Flank NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1200 protein transport myosin complex ATP binding|actin 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) ATCTTACCTTCAGACTATTGT 0.527000 256 200 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056203 44056203 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:44056203G>A uc002owt.2 - 8 1168 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W XRCC1_uc010xwp.1_Missense_Mutation_p.R319W NM_006297 NP_006288 P18887 XRCC1_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. 350 BRCT 1. R -> W (in a colorectal cancer sample; somatic mutation). base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding p.R350W(2) breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) CAGTCTGGCCGATACTTGGCC 0.642000 Other BER factors 68 41 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169495230 169495230 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:169495230C>T uc001ggg.1 - 17 5770 c.5625G>A c.(5623-5625)aaG>aaA p.K1875K NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1875 F5/8 type A 3.|Plastocyanin-like 6. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTTTTGATGCCTTCATTTCAA 0.363000 98 31 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526136 176526136 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:176526136C>T uc001gkz.3 + 1 1842 c.678C>T c.(676-678)tcC>tcT p.S226S PAPPA2_uc001gky.1_Silent_p.S226S|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 226 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAAGCATTCCCTTAAACACA 0.547000 39 74 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35231795 35231795 + Missense_Mutation SNP T G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr19:35231795T>G uc002nvu.3 + 3 972 c.509T>G c.(508-510)cTt>cGt p.L170R ZNF181_uc010xsb.1_Missense_Mutation_p.L169R|ZNF181_uc010xsc.1_Missense_Mutation_p.L105R NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA. 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E170Q(1) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AAGTCTACTCTTTCTGAACCA 0.333000 37 20 0 0 1 0 0 POP7 10248 broad.mit.edu 37 7 100304533 100304533 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:100304533C>T uc003uwh.4 + 1 342 c.80C>T c.(79-81)cCc>cTc p.P27L POP7_uc022ais.1_Missense_Mutation_p.P27L NM_005837 NP_005828 O75817 POP7_HUMAN Homo sapiens processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) (POP7), mRNA. 27 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity endometrium(2)|kidney(1)|ovary(1) 4 Lung NSC(181;0.041)|all_lung(186;0.0581) AAAAGGCTTCCCAGCCGCCTG 0.607000 147 50 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41533698 41533698 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr22:41533698C>T uc003azl.4 + 7 2059 c.1664C>T c.(1663-1665)cCt>cTt p.P555L NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 555 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|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 DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|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 TCCCTGGGTCCTATGCCAACA 0.438000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 32 30 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77631427 77631427 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:77631427C>T uc011cbx.2 + 2 1395 c.442C>T c.(442-444)Cgg>Tgg p.R148W SHROOM3_uc011cbz.1_5'UTR NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 148 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGTTAAACTTCGGCTGAAGCA 0.577000 21 19 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127623010 127623010 + Missense_Mutation SNP C G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:127623010C>G uc003kuu.3 - 53 7309 c.6870G>C c.(6868-6870)aaG>aaC p.K2290N NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 2290 EGF-like 38; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTTTGCACATCTTTTGATCTT 0.453000 59 38 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93836183 93836183 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:93836183G>A uc001pep.2 + 14 2836 c.2679G>A c.(2677-2679)gtG>gtA p.V893V AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 893 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TAAACTTTGTGAAGGTAAGGT 0.373000 19 15 0 0 1 0 0 CDC23 8697 broad.mit.edu 37 5 137528294 137528294 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:137528294C>T uc003lcl.3 - 9 1096 c.1065G>A c.(1063-1065)caG>caA p.Q355Q NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA. 355 G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TCAGGGCTCTCTGGAAATATA 0.373000 38 26 0 0 1 0 0 TGFB3 7043 broad.mit.edu 37 14 76446913 76446913 + Silent SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:76446913G>A uc001xsc.2 - 0 1180 c.324C>T c.(322-324)ttC>ttT p.F108F TGFB3_uc001xsd.3_Silent_p.F106F NM_003239 NP_003230 P10600 TGFB3_HUMAN Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA. 108 cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.0169) GGATCATGTCGAATTTATGGA 0.577000 66 50 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241722490 241722490 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:241722490C>T uc010fzk.3 - 8 1082 c.835G>A c.(835-837)Ggc>Agc p.G279S KIF1A_uc002vzy.3_Missense_Mutation_p.G279S|KIF1A_uc002vzz.2_Missense_Mutation_p.G279S NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 279 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATGACCTTGCCCAGGGTGGTC 0.652000 47 36 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058231 114058231 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:114058231G>A uc003ebi.3 - 4 2027 c.1847C>T c.(1846-1848)tCc>tTc p.S616F ZBTB20_uc003ebj.3_Missense_Mutation_p.S543F|ZBTB20_uc010hqp.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebk.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebl.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebm.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebn.3_Missense_Mutation_p.S543F NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) ATCCTTTAAGGAGAAGGAGCG 0.512000 6 34 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49568863 49568863 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr3:49568863C>T uc021wxz.1 + 2 1388 c.919C>T c.(919-921)Ccc>Tcc p.P307S DAG1_uc021wya.1_Missense_Mutation_p.P307S|DAG1_uc021wyb.1_Missense_Mutation_p.P307S|DAG1_uc021wyc.1_Missense_Mutation_p.P307S|DAG1_uc021wyd.1_Missense_Mutation_p.P307S|DAG1_uc021wye.1_Missense_Mutation_p.P307S|DAG1_uc021wyf.1_Missense_Mutation_p.P307S|DAG1_uc021wyg.1_Missense_Mutation_p.P307S|DAG1_uc021wyh.1_Missense_Mutation_p.P307S|DAG1_uc021wyi.1_Missense_Mutation_p.P307S|DAG1_uc021wyj.1_Missense_Mutation_p.P307S|DAG1_uc021wyk.1_Missense_Mutation_p.P307S|DAG1_uc003cxc.4_Missense_Mutation_p.P307S NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 307 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GCCCCCTCTTCCCAAACGCGT 0.617000 51 35 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58235475 58235475 + Silent SNP T C C TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:58235475T>C uc002iym.4 + 5 661 c.567T>C c.(565-567)aaT>aaC p.N189N CA4_uc010wou.2_Non-coding_Transcript NM_000717 NP_000708 P22748 CAH4_HUMAN Homo sapiens carbonic anhydrase IV (CA4), mRNA. 189 bicarbonate transport|one-carbon metabolic process ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CACTGTCTAATATCCCCAAAC 0.617000 33 34 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67233170 67233170 + Missense_Mutation SNP A G G TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:67233170A>G uc002esa.3 + 0 143 c.100A>G c.(100-102)Acc>Gcc p.T34A ELMO3_uc002esb.3_Missense_Mutation_p.T34A|ELMO3_uc002esc.3_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 0 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGCCAGGTGCACCCTTGGCCG 0.677000 10 16 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36212230 36212230 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr4:36212230C>T uc003gsq.2 - 5 1607 c.1269G>A c.(1267-1269)caG>caA p.Q423Q ARAP2_uc003gsr.1_Silent_p.Q423Q NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 423 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.Q423*(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTCTTAAACTCTGAAAGCATT 0.358000 40 39 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45672382 45672382 + Missense_Mutation SNP A T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:45672382A>T uc021qgn.1 - 0 92 c.92T>A c.(91-93)tTt>tAt p.F31Y CHST1_uc001mys.2_Missense_Mutation_p.F31Y NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 31 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCAGGTGTGAAAGGACTTGGC 0.652000 66 30 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747588 94747588 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:94747588G>A uc022aye.1 - 0 1051 c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C RBM12B_uc003yfz.3_Missense_Mutation_p.R351C NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA. 351 RRM 2. RNA binding|nucleotide binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGAACTGGACGATATTGTAAA 0.358000 28 21 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39604026 39604026 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr8:39604026C>T uc003xnj.3 - 18 2214 c.2139G>A c.(2137-2139)agG>agA p.R713R ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 713 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCCATTTTTTCCTTTGGAAAT 0.284000 23 17 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20960316 20960316 + Missense_Mutation SNP G A A rs45540544 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr1:20960316G>A uc001bdm.3 + 0 369 c.275G>A c.(274-276)tGc>tAc p.C92Y NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA. 92 C -> F (in PARK6). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCCTGGGGCTGCGCGGGCCCT 0.726000 3 9 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77407528 77407528 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr15:77407528G>A uc021sqy.1 - 7 4787 c.4211C>T c.(4210-4212)cCc>cTc p.P1404L NM_024776 NP_079052 Q9H792 PEAK1_HUMAN Homo sapiens NKF3 kinase family member (PEAK1), mRNA. 1404 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ATCCTCCCAGGGAAGCAGACG 0.498000 37 21 0 0 1 0 0 HLA-J 3137 broad.mit.edu 37 6 29977327 29977327 + Silent SNP T C C rs143365191 by1000genomes TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:29977327T>C uc021yty.1 + 4 373 c.355T>C c.(355-357)Ttg>Ctg p.L119L HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Silent_p.L116L Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA. GACAGCTGCCTTGTGTGGGAC 0.438000 70 4 0 0 1 0 0 WDR55 54853 broad.mit.edu 37 5 140049145 140049145 + Nonsense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140049145G>A uc003lgr.4 + 6 1172 c.1058G>A c.(1057-1059)tGg>tAg p.W353* WDR55_uc011czl.1_3'UTR NM_017706 NP_060176 Q9H6Y2 WDR55_HUMAN Homo sapiens WD repeat domain 55 (WDR55), mRNA. 353 rRNA processing cytoplasm|nucleolus NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAGACTTGGAGCACCGAT 0.552000 8 6 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249494 140249494 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr5:140249494G>A uc003lia.2 + 0 1664 c.806G>A c.(805-807)cGa>cAa p.R269Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R269Q NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 284 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACAGACCGAGACGAAGGA 0.388000 7 11 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154237647 154237647 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:154237647G>A uc003wlk.3 + 3 617 c.488G>A c.(487-489)gGa>gAa p.G163E DPP6_uc003wli.3_Missense_Mutation_p.G99E|DPP6_uc003wlj.3_Missense_Mutation_p.G163E|DPP6_uc003wlm.3_Missense_Mutation_p.G101E|DPP6_uc011kvq.2_Missense_Mutation_p.G101E NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 163 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GAACAGAAAGGAACAGTGAGA 0.353000 35 6 0 0 1 0 0 TCRBV15S1 0 broad.mit.edu 37 7 142364669 142364669 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:142364669C>T uc003vzx.3 + 1 338 c.304C>T c.(304-306)Ccc>Tcc p.P102S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; GTCTGCCATCCCCAACCAGAC 0.478000 51 118 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79181271 79181271 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr14:79181271C>T uc001xun.3 + 4 1205 c.714C>T c.(712-714)atC>atT p.I238I NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.I372I NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 0 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGGCTGCATCCGCGACCTAT 0.577000 27 22 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31855876 31855876 + Missense_Mutation SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:31855876G>A uc003nxz.1 - 12 1697 c.1687C>T c.(1687-1689)Cct>Tct p.P563S EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P354S|EHMT2_uc011don.1_Missense_Mutation_p.P586S|EHMT2_uc003nya.1_Missense_Mutation_p.P529S NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA. 563 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGGGGTGCAGGAGCTGCAGTG 0.652000 18 6 0 0 1 0 0 AOC4 90586 broad.mit.edu 37 17 41019620 41019620 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:41019620C>T uc002ibw.1 + 0 459 c.325C>T c.(325-327)Ctg>Ttg p.L109L AF047486_uc002ibx.3_5'Flank Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA. GGCTGCAGCCCTGGCTCACTT 0.667000 38 28 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11964207 11964207 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr11:11964207C>T uc001mjs.3 + 19 3402 c.2639C>T c.(2638-2640)aCt>aTt p.T880I USP47_uc001mjq.1_Missense_Mutation_p.T900I|USP47_uc001mjr.3_Missense_Mutation_p.T812I|USP47_uc001mjt.1_Missense_Mutation_p.T186I NM_017944 NP_060414 Q96K76 UBP47_HUMAN Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA. 900 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex|cytoplasm WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) AGCAAAAGTACTGAGACAAGT 0.418000 35 14 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536420 1536420 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:1536420C>T uc010uvf.2 - 2 942 c.942G>A c.(940-942)gaG>gaA p.E314E NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN Homo sapiens pentraxin 4, long (PTX4), mRNA. 319 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 TGTCATTGTCCTCGGTGGCGT 0.672000 40 34 0 0 1 0 0 NR1D1 9572 broad.mit.edu 37 17 38251709 38251709 + Silent SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:38251709C>T uc002htz.2 - 4 1862 c.1236G>A c.(1234-1236)aaG>aaA p.K412K NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron NM_021724 NP_068370 P20393 NR1D1_HUMAN Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA. 412 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) GCAGAACATTCTTTGAGTTGC 0.612000 51 32 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29451825 29451825 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr2:29451825C>T uc002rmy.3 - 15 3692 c.2740G>A c.(2740-2742)Ggg>Agg p.G914R NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 914 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GTCTCCCACCCCCACTTCTTC 0.577000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 11 24 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + Missense_Mutation SNP C T T rs141013110 TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr6:26422353C>T uc011dkl.1 + 0 37 c.7C>T c.(7-9)Cca>Tca p.P3S BTN2A3P_uc011dkm.2_Non-coding_Transcript Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA. p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 168 6 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547953 19547953 + Missense_Mutation SNP C T T TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr16:19547953C>T uc002dgl.4 + 3 1209 c.962C>T c.(961-963)tCg>tTg p.S321L CCP110_uc002dgk.4_Missense_Mutation_p.S321L NM_001199022 NP_001185951 O43303 CP110_HUMAN Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA. 321 G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 GCTAGCTTTTCGAAAGTGGAC 0.383000 24 26 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825562 21825562 + RNA SNP G A A TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:21825562G>A uc002gyz.3 + 0 c.193G>A Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA. central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) aggcctgcccggagggtgttc 0.632000 43 40 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A - - rs147779783 byFrequency TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr7:76112249delA uc011kgk.1 + 2 772 c.420delA c.(418-420)ccafs p.P140fs DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs NM_020892 NP_065943 Q86UW9 DTX2_HUMAN Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA. 231 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 --- 1171 --- --- 9 --- MFAP4 4239 broad.mit.edu 37 17 19290123 19290125 + In_Frame_Del DEL AGC - - TCGA-EB-A5SE-01A-11D-A30X-08 TCGA-EB-A5SE-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55f628bc-f199-4eb0-9388-9945bf2deabd 5ee0cf3a-5e46-4644-af01-64abd1c26929 g.chr17:19290123_19290125delAGC uc002gvs.3 - 1 206_208 c.105_107delGCT c.(103-108)ctgctt>ctt p.35_36LL>L MFAP4_uc002gvt.3_In_Frame_Del_p.11_12LL>L NM_001198695 NP_001185624 P55083 MFAP4_HUMAN Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA. 11 Fibrinogen C-terminal. cell adhesion|signal transduction microfibril receptor binding large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 10 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CGTGGAGAGAAGCAGCAGCAGCG 0.655 --- 4 --- --- 2 ---