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 TRANK1 9881 broad.mit.edu 37 3 36897004 36897004 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:36897004G>A uc003cgj.3 - 11 4325 c.4077C>T c.(4075-4077)tcC>tcT p.S1359S NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1359 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AACCTTTCTGGGACCTGATTT 0.473000 92 28 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55184233 55184233 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:55184233C>T uc010wnl.2 + 2 1690 c.1408C>T c.(1408-1410)Ccc>Tcc p.P470S AKAP1_uc002iux.3_Missense_Mutation_p.P470S|AKAP1_uc021uak.1_Missense_Mutation_p.P470S|AKAP1_uc010dcm.3_Missense_Mutation_p.P470S|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 470 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) ACTGACCACCCCCAGTGAAGA 0.592000 135 4 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642832 156642832 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:156642832G>A uc001fpq.3 - 3 1281 c.1148C>T c.(1147-1149)cCt>cTt p.P383L NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 383 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCAAGGTAGGGGTACGGGC 0.602000 86 75 0 0 1 0 0 CST4 1472 broad.mit.edu 37 20 23669594 23669594 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:23669594G>A uc002wto.1 - 0 69 c.13C>T c.(13-15)Ctg>Ttg p.L5L NM_001899 NP_001890 P01036 CYTS_HUMAN Homo sapiens cystatin S (CST4), mRNA. 5 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) AGGGTACACAGAGGCCGGGCC 0.617000 18 14 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651324 96651324 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:96651324C>T uc003pop.4 + 2 634 c.293C>T c.(292-294)tCa>tTa p.S98L FUT9_uc021zcw.1_Missense_Mutation_p.S98L NM_006581 NP_006572 Q9Y231 FUT9_HUMAN Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA. 98 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ACGGACCGTTCACTGTACAAC 0.488000 18 12 0 0 1 0 0 C18orf34 374864 broad.mit.edu 37 18 30950052 30950052 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:30950052G>A uc010xbr.1 - 4 452 c.310C>T c.(310-312)Caa>Taa p.Q104* C18orf34_uc002kxn.2_Nonsense_Mutation_p.Q104*|C18orf34_uc010dmf.1_Nonsense_Mutation_p.Q104*|C18orf34_uc002kxo.2_Nonsense_Mutation_p.Q104*|C18orf34_uc002kxp.3_Nonsense_Mutation_p.Q104* NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA. 104 NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2) 65 TCCACATCTTGGATGTGTGAA 0.393000 27 9 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90344760 90344760 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:90344760G>A uc002bop.4 - 10 1940 c.1648C>T c.(1648-1650)Ccg>Tcg p.P550S NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 550 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GTGATGACCGGGAAGCCCATC 0.612000 134 26 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36897298 36897298 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:36897298G>A uc003apn.4 - 3 1314 c.1206C>T c.(1204-1206)ttC>ttT p.F402F FOXRED2_uc003apm.4_5'Flank|FOXRED2_uc003apo.4_Silent_p.F402F|FOXRED2_uc003app.4_Silent_p.F402F NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. 402 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTGTGTATCGGAATCCGTGGA 0.542000 45 25 0 0 1 0 0 PARS2 25973 broad.mit.edu 37 1 55224465 55224465 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:55224465G>A uc021ont.1 - 0 370 c.370C>T c.(370-372)Ccg>Tcg p.P124S PARS2_uc001cxy.3_Missense_Mutation_p.P124S NM_152268 NP_689481 Q7L3T8 SYPM_HUMAN Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA. 124 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) AGCTCTGCCGGGCTGAGGCTG 0.577000 101 23 0 0 1 0 0 STIM2 57620 broad.mit.edu 37 4 27004568 27004568 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:27004568G>A uc003gsg.4 + 6 1351 c.823G>A c.(823-825)Gaa>Aaa p.E275K STIM2_uc003gsh.4_Missense_Mutation_p.E275K|STIM2_uc010iex.3_Missense_Mutation_p.E275K|STIM2_uc010iey.3_5'UTR NM_020860 NP_065911 Q9P246 STIM2_HUMAN Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA. 275 activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 25 Breast(46;0.0503) GGCACAGGAAGAAAACAGAAA 0.328000 25 18 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38355378 38355378 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:38355378G>A uc001ccf.1 - 2 193 c.156C>T c.(154-156)tcC>tcT p.S52S INPP5B_uc009vvk.1_Silent_p.S157S|INPP5B_uc001ccg.1_Silent_p.S216S|INPP5B_uc010oij.1_Non-coding_Transcript NM_005540 NP_005531 P32019 I5P2_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA. 296 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAGTAATTTCGGACTTGGATT 0.388000 107 25 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48136182 48136182 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:48136182G>A uc003gxx.4 - 0 92 c.6C>T c.(4-6)atC>atT p.I2I TXK_uc003gxy.1_Silent_p.I2I NM_003328 NP_003319 P42681 TXK_HUMAN Homo sapiens TXK tyrosine kinase (TXK), mRNA. 2 cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 AGGAGGAAAGGATCATGGTAG 0.448000 53 14 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75954357 75954357 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:75954357C>T uc003kek.3 + 20 2616 c.2394C>T c.(2392-2394)ttC>ttT p.F798F IQGAP2_uc010izv.2_Silent_p.F351F|IQGAP2_uc011csv.2_Silent_p.F294F|IQGAP2_uc003kel.3_Silent_p.F294F NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 798 small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding p.D797E(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATTTGGATTTCCAGGAGGAAC 0.438000 30 17 0 0 1 0 0 XIAP 331 broad.mit.edu 37 X 123019668 123019668 + Silent SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:123019668T>C uc010nqu.3 + 1 282 c.156T>C c.(154-156)ttT>ttC p.F52F XIAP_uc004etx.3_Silent_p.F52F|XIAP_uc010nqv.3_Intron NM_001204401 NP_001191330 P98170 XIAP_HUMAN Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA. 52 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 GAGCAGGGTTTCTTTATACTG 0.413000 X-linked Lymphoproliferative syndrome 21 34 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342195 29342195 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:29342195G>A uc003nme.3 - 0 874 c.870C>T c.(868-870)acC>acT p.T290T NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 290 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 TGTTCCTAAGGGTGTAGATTA 0.453000 81 42 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864408 153864408 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:153864408C>T uc003inf.2 + 0 274 c.199C>T c.(199-201)Cct>Tct p.P67S NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 67 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) ACCTCCACTTCCTGGGGAGCC 0.592000 14 9 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45599849 45599849 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:45599849G>A uc003bfv.1 - 4 747 c.561C>T c.(559-561)acC>acT p.T187T KIAA0930_uc003bfx.1_Silent_p.T178T|KIAA0930_uc010gzw.1_Silent_p.T30T|KIAA0930_uc003bfw.1_Silent_p.T183T|KIAA0930_uc010gzx.2_Silent_p.T160T|MIR1249_uc021wrh.1_5'Flank NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA. 178 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CTTCCCCTACGGTCATGTCGC 0.612000 80 18 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100064 110100064 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:110100064G>A uc003ymz.4 + 0 412 c.323G>A c.(322-324)gGa>gAa p.G108E NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 108 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CAGTATTTGGGAATTAATGCA 0.463000 54 14 0 0 1 0 0 MRPL49 740 broad.mit.edu 37 11 64891988 64891988 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:64891988C>T uc001oda.2 + 1 196 c.93C>T c.(91-93)ggC>ggT p.G31G FAU_uc001ocx.3_5'Flank|MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Intron NM_004927 NP_004918 Q13405 RM49_HUMAN Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 31 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|ovary(1) 2 AGACCCAGGGCCCTCCAGATT 0.483000 44 24 0 0 1 0 0 C19orf21 126353 broad.mit.edu 37 19 757699 757699 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:757699G>A uc002lpo.3 + 1 836 c.753G>A c.(751-753)gtG>gtA p.V251V NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 251 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) AGCCCCAGGTGAAGGGGGTGG 0.657000 17 6 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76490720 76490720 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:76490720G>A uc010dhp.2 - 39 6350 c.6225C>T c.(6223-6225)ttC>ttT p.F2075F AK127460_uc002jvt.1_5'Flank NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCAGAGCCGGGAAGAGGTCCC 0.597000 181 45 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008568 11008568 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:11008568C>T uc010oao.2 - 11 1624 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K C1orf127_uc001ars.2_Missense_Mutation_p.E377K|C1orf127_uc001arr.2_Missense_Mutation_p.E385K NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 393 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTAGACCTTCAGTCAGGGTG 0.607000 40 24 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130841494 130841494 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:130841494C>T uc001uik.3 + 12 1707 c.1436C>T c.(1435-1437)tCc>tTc p.S479F PIWIL1_uc001uij.2_Missense_Mutation_p.S479F NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 479 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCAGATTGGTCCAAAGAAACA 0.373000 42 9 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111061056 111061056 + Silent SNP C T T rs34454042 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:111061056C>T uc001dzt.1 - 0 742 c.354G>A c.(352-354)agG>agA p.R118R NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 118 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AGAACTGCATCCTTTTTTCCC 0.463000 53 14 0 0 1 0 0 abParts 0 broad.mit.edu 37 22 22749788 22749788 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:22749788G>A uc021wml.1 + 56 c.6472G>A Parts of antibodies, mostly variable regions. CTGAGGACGAGGCTGAGTATT 0.562000 51 19 0 0 1 0 0 LIPA 3988 broad.mit.edu 37 10 90988067 90988067 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:90988067G>A uc001kgc.4 - 2 593 c.303C>T c.(301-303)ttC>ttT p.F101F LIPA_uc001kgb.4_Silent_p.F50F|LIPA_uc001kga.4_Silent_p.F106F|LIPA_uc009xtq.3_Silent_p.F106F NM_001127605 NP_001121077 P38571 LICH_HUMAN Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA. 106 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) CAGCAAGAATGAAGCCCAGGC 0.473000 68 17 0 0 1 0 0 ZFP41 286128 broad.mit.edu 37 8 144332051 144332051 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:144332051C>T uc003yxw.3 + 1 396 c.38C>T c.(37-39)aCc>aTc p.T13I ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.T13I NM_173832 NP_776193 Q8N8Y5 ZFP41_HUMAN Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA. 13 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|lung(4)|ovary(1) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) AAGACGCCGACCCCAAGGGAG 0.602000 9 5 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879792 27879792 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:27879792G>A uc011dkw.2 - 0 383 c.306C>T c.(304-306)ttC>ttT p.F102F NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 CCAGGAAAATGAAAAGCTGGG 0.448000 25 21 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183559354 183559354 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:183559354G>A uc001gqj.4 - 0 386 c.111C>T c.(109-111)tcC>tcT p.S37S NCF2_uc010pod.2_Silent_p.S37S|NCF2_uc010poe.2_Silent_p.S37S|NCF2_uc001gqk.4_Silent_p.S37S NM_000433 NP_001121123 P19878 NCF2_HUMAN Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA. 37 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding p.S37F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 AGCAAATCCGGGAGTGGGGGT 0.577000 136 105 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905565 50905565 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:50905565C>T uc010eny.3 + 4 694 c.693C>T c.(691-693)atC>atT p.I231I POLD1_uc002psb.4_Silent_p.I231I|POLD1_uc002psc.4_Silent_p.I231I|POLD1_uc010enx.3_Non-coding_Transcript NM_002691 NP_002682 P28340 DPOD1_HUMAN Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA. 231 DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) AACAGGGCATCCGTGTGGCAG 0.697000 DNA polymerases (catalytic subunits) 39 20 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102239042 102239042 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:102239042C>T uc001pgy.3 + 5 2528 c.1129C>T c.(1129-1131)Cat>Tat p.H377Y BIRC2_uc010ruq.2_Missense_Mutation_p.H328Y|BIRC2_uc010rur.2_Missense_Mutation_p.H377Y NM_001166 NP_001157 Q13490 BIRC2_HUMAN Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA. 377 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) AATAGTTATTCATTTTGGACC 0.343000 35 14 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160913840 160913840 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:160913840G>A uc003qtj.2 - 2 c.481C>T LPAL2_uc011efy.2_Non-coding_Transcript Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA. large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TCTAGGCTTGGAACTGGGATA 0.493000 54 20 0 0 1 0 0 LRRC52 440699 broad.mit.edu 37 1 165533023 165533023 + Nonsense_Mutation SNP C T T rs144838654 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:165533023C>T uc001gde.2 + 1 960 c.904C>T c.(904-906)Cag>Tag p.Q302* LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 302 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) TTTTCAAACCCAGACGAGCTC 0.567000 64 19 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107288614 107288614 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:107288614G>A uc011lvn.2 - 0 877 c.877C>T c.(877-879)Ccc>Tcc p.P293S NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TAGATTATGGGGTTTAACATG 0.408000 22 16 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847694 123847694 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:123847694G>A uc001pzm.1 - 0 705 c.705C>T c.(703-705)atC>atT p.I235I NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CAGCTGCCACGATGAAGATGT 0.592000 8 20 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53785517 53785517 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:53785517C>T uc003pcd.1 + 12 1895 c.1374C>T c.(1372-1374)atC>atT p.I458I NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA. 458 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) TCAGTGCGATCCGATTTGTGG 0.453000 27 15 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35541160 35541160 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:35541160G>A uc003xjr.2 + 4 994 c.666G>A c.(664-666)cgG>cgA p.R222R UNC5D_uc003xjs.2_Silent_p.R217R|UNC5D_uc003xjt.1_5'UTR NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 222 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGCAGGCACGGCTCTCGGACT 0.512000 25 4 0 0 1 0 0 DCD 117159 broad.mit.edu 37 12 55039412 55039413 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:55039412_55039413CC>TT uc001sgj.3 - 2 238_239 c.176_177GG>AA c.(175-177)agg>aAA p.R59K DCD_uc009znt.3_Missense_Mutation_p.R59K|DCD_uc009znu.3_Non-coding_Transcript NM_053283 NP_444513 P81605 DCD_HUMAN Homo sapiens dermcidin (DCD), mRNA. 59 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) ATCTCTGCTTCCTTGGCTTTGG 0.515000 40 7 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69934077 69934077 + Missense_Mutation SNP C A A rs138583865 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:69934077C>A uc001jnm.4 + 11 2413 c.2228C>A c.(2227-2229)cCg>cAg p.P743Q MYPN_uc001jnn.4_Missense_Mutation_p.P468Q|MYPN_uc001jno.4_Missense_Mutation_p.P743Q|MYPN_uc009xpt.3_Missense_Mutation_p.P743Q|MYPN_uc010qit.2_Missense_Mutation_p.P449Q|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 743 nucleus|sarcomere actin binding p.P743P(1) 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 TCCAGCTCTCCGGTGTTCACT 0.537000 81 29 8.16721e-17 8.30708e-17 1 1 0 CPZ 8532 broad.mit.edu 37 4 8621162 8621162 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:8621162C>T uc003glm.3 + 10 1951 c.1777C>T c.(1777-1779)Cat>Tat p.H593Y CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.H582Y|CPZ_uc003gln.3_Missense_Mutation_p.H456Y NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 593 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.H593Y(2) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GAACTTTATTCATGGGCTGCG 0.637000 26 28 0 0 1 0 0 SCGN 10590 broad.mit.edu 37 6 25689736 25689736 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:25689736G>A uc003nfb.3 + 8 812 c.609G>A c.(607-609)gaG>gaA p.E203E SCGN_uc010jpz.3_Silent_p.E94E NM_006998 NP_008929 O76038 SEGN_HUMAN Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA. 203 EF-hand 5. extracellular region|transport vesicle membrane calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 GGGACTTTGAGAAAATCTTTG 0.398000 125 29 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73999323 73999323 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:73999323C>T uc002jqg.4 + 8 2472 c.720C>T c.(718-720)ctC>ctT p.L240L CDK3_uc010dgt.3_Silent_p.L212L NM_001258 NP_001249 Q00526 CDK3_HUMAN Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA. 212 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 TTGACCAGCTCTTTCGTATCT 0.532000 214 169 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30875362 30875362 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:30875362G>A uc003cep.2 - 10 1080 c.1033C>T c.(1033-1035)Ctt>Ttt p.L345F GADL1_uc003ceq.1_Missense_Mutation_p.L345F NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA. 345 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TCTTTCACAAGGAGAGCACAG 0.493000 18 17 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136221611 136221611 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:136221611G>A uc003era.1 - 7 979 c.687C>T c.(685-687)ctC>ctT p.L229L STAG1_uc003erb.1_Silent_p.L229L|STAG1_uc003erc.1_Silent_p.L3L|STAG1_uc010hua.1_Silent_p.L92L NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 229 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GAGCAGTCATGAGCTTCATGG 0.333000 29 9 0 0 1 0 0 NCF1C 654817 broad.mit.edu 37 7 74578769 74578769 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:74578769C>T uc003ubv.3 - 5 574 c.435G>A c.(433-435)aaG>aaA p.K145K NCF1C_uc011kfn.2_Silent_p.K145K|NCF1C_uc011kfo.2_Silent_p.K143K Homo sapiens neutrophil cytosolic factor 1C pseudogene (NCF1C), non-coding RNA. AGCCCGAGGTCTTCTCGTAGT 0.657000 57 42 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54958874 54958874 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:54958874C>T uc003dhl.3 - 1 510 c.376G>A c.(376-378)Gag>Aag p.E126K CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 126 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AAATCAAGCTCCCTCAGCTGA 0.463000 37 19 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220337806 220337806 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:220337806C>T uc010fwg.3 + 15 4135 c.4135C>T c.(4135-4137)Ctg>Ttg p.L1379L NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1379 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.L1379L(1) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCTGTGCAGCTGCTGGAGCA 0.662000 16 10 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749428 22749428 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:22749428G>A uc003gqp.4 + 2 887 c.796G>A c.(796-798)Gaa>Aaa p.E266K GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.E267K NM_020973 NP_066024 Q9H227 GBA3_HUMAN Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA. 266 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGATTATCCTGAAGTTGTCAA 0.423000 24 18 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128918 68128918 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:68128918G>A uc002jiq.3 + 2 926 c.786G>A c.(784-786)agG>agA p.R262R KCNJ16_uc002jin.3_Silent_p.R230R|KCNJ16_uc002jio.3_Silent_p.R230R|KCNJ16_uc002jip.3_Silent_p.R230R|KCNJ16_uc021uch.1_Silent_p.R230R NM_170742 NP_733938 Q9NPI9 IRK16_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA. 230 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) GTGAAGGGAGGATGACGATGG 0.473000 76 21 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565405 11565406 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:11565405_11565406CC>TT uc002mry.1 - 6 1419_1420 c.1039_1040GG>AA c.(1039-1041)ggc>AAc p.G347N ELAVL3_uc002mrx.1_Missense_Mutation_p.G340N NM_001420 NP_001411 Q14576 ELAV3_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA. 347 RRM 3. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CAGGCGATAGCCGTTCAGGCTG 0.634000 38 15 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12666901 12666901 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:12666901C>T uc002gno.2 + 13 3200 c.2901C>T c.(2899-2901)ttC>ttT p.F967F MYOCD_uc002gnn.2_Silent_p.F919F|MYOCD_uc002gnq.2_Silent_p.F643F NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 919 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACATCGATTTCCTGGATGTCA 0.517000 20 9 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174373 51174373 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:51174373G>A uc021tif.1 - 1 1791 c.1469C>T c.(1468-1470)cCc>cTc p.P490L SALL1_uc021tid.1_Missense_Mutation_p.P490L|SALL1_uc021tie.1_Missense_Mutation_p.P587L|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 587 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) TGAGCCTGGGGGGCTGGTGGC 0.627000 16 15 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131832678 131832678 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:131832678C>T uc003vra.4 - 26 5074 c.4845G>A c.(4843-4845)agG>agA p.R1615R PLXNA4_uc003vqz.4_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1615 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TTGCTGAGGTCCTGGAGACGG 0.537000 60 18 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62149192 62149192 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:62149192C>T uc001jky.3 - 0 443 c.105G>A c.(103-105)cgG>cgA p.R35R ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 35 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTTTTTCTTCCGATCCCGGG 0.398000 34 33 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33136303 33136303 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:33136303C>T uc003ocx.1 - 53 4181 c.3953G>A c.(3952-3954)gGa>gAa p.G1318E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1232E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1211E NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1318 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TACTCGCTTTCCAAGTGGCCC 0.637000 47 10 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586509 20586509 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:20586509C>T uc001vwo.1 + 0 944 c.944C>T c.(943-945)cCa>cTa p.P315L NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P315Q(2) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) ATCTTGAATCCAATTATCTAT 0.348000 11 7 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33570325 33570325 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:33570325C>T uc002xbi.2 + 9 1034 c.717C>T c.(715-717)gtC>gtT p.V239V NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 197 Myosin head-like. membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TTGCCATCGTCGCTGCCCTGG 0.567000 44 12 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64416264 64416264 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:64416264G>A uc021qkw.1 - 15 3687 c.3225C>T c.(3223-3225)ctC>ctT p.L1075L NRXN2_uc021qkx.1_Silent_p.L1035L|NRXN2_uc001oas.3_Silent_p.L1035L|NRXN2_uc001oaq.3_Silent_p.L742L NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 1075 Laminin G-like 5. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGAGGTCTGGGAGACGTCCGT 0.632000 62 21 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216371671 216371671 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:216371671C>T uc001hku.1 - 17 4454 c.4067G>A c.(4066-4068)aGa>aAa p.R1356K USH2A_uc001hkv.3_Missense_Mutation_p.R1356K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1356 Fibronectin type-III 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCTCCCGTTCTTTCTGAGAC 0.393000 HNSCC(13;0.011) 40 36 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119937894 119937894 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:119937894G>A uc001txe.3 + 5 1034 c.569G>A c.(568-570)gGa>gAa p.G190E AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 190 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GACCCGGGTGGAAGCAAGAGC 0.423000 70 22 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94943183 94943183 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:94943183G>A uc002btj.3 + 14 1989 c.1924G>A c.(1924-1926)Gaa>Aaa p.E642K MCTP2_uc010boj.3_Missense_Mutation_p.E371K|MCTP2_uc010bok.3_Missense_Mutation_p.E642K|MCTP2_uc002btk.4_Missense_Mutation_p.E230K|MCTP2_uc002btl.3_Missense_Mutation_p.E230K NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 642 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.R641R(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TACTCCCCGGGAAAAGCGCTT 0.458000 99 20 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641339 99641339 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:99641339C>T uc001yga.3 - 3 2101 c.1834G>A c.(1834-1836)Gag>Aag p.E612K BCL11B_uc001ygb.3_Missense_Mutation_p.E541K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 612 Gly-rich. nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCCAGGAGCTCGCCGTACTGC 0.756000 T TLX3 T-ALL 28 11 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125274 12125274 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:12125274C>T uc003nac.3 + 3 5425 c.5246C>T c.(5245-5247)tCc>tTc p.S1749F HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 1749 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGGATGCTTTCCCCAGCAAAT 0.433000 81 17 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585230 70585230 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:70585230C>T uc003xyl.3 - 9 3128 c.2421G>A c.(2419-2421)gaG>gaA p.E807E SLCO5A1_uc010lzb.3_Silent_p.E752E|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 807 integral to membrane|plasma membrane transporter activity p.E806*(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCAGGCCAGTCTCTTCGTGGA 0.592000 51 20 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28849340 28849340 + Missense_Mutation SNP G A A rs145348249 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:28849340G>A uc002rmb.2 + 50 3669 c.3625G>A c.(3625-3627)Ggg>Agg p.G1209R PLB1_uc010ezj.2_Missense_Mutation_p.G1198R|PLB1_uc002rme.2_Missense_Mutation_p.G174R NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 1209 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ACTCTTCATTGGGGTCAACGA 0.532000 19 11 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68965339 68965339 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:68965339C>T uc003xxv.1 + 8 978 c.951C>T c.(949-951)ttC>ttT p.F317F PREX2_uc003xxu.1_Silent_p.F317F|PREX2_uc011lez.1_Silent_p.F252F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 317 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAGCTGATTTCCATAGCAGTG 0.323000 26 19 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45959050 45959050 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:45959050G>A uc010gzz.3 + 15 2217 c.2070G>A c.(2068-2070)agG>agA p.R690R FBLN1_uc003bgh.3_Silent_p.R652R|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 670 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCGAGCCCAGGGACTTGCTCC 0.612000 77 13 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11558261 11558261 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:11558261C>T uc010xlz.2 + 10 1193 c.857C>T c.(856-858)cCc>cTc p.P286L PRKCSH_uc002mrt.3_Missense_Mutation_p.P286L|PRKCSH_uc002mru.3_Missense_Mutation_p.P286L|PRKCSH_uc002mrv.1_Missense_Mutation_p.P286L|PRKCSH_uc010dyb.3_Missense_Mutation_p.P286L NM_002743 NP_002734 P14314 GLU2B_HUMAN Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA. 286 EF-hand 2. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CAGGCACTGCCCACCGACCTT 0.672000 17 5 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637290 248637290 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:248637290C>T uc001iel.1 + 0 639 c.639C>T c.(637-639)ctC>ctT p.L213L NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) TCATGCTTCTCGCCCCCATCA 0.552000 27 100 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74097447 74097447 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:74097447G>A uc003kdm.3 - 8 963 c.920C>T c.(919-921)tCt>tTt p.S307F FAM169A_uc010izm.3_Missense_Mutation_p.S247F|FAM169A_uc003kdl.3_Missense_Mutation_p.S125F NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 307 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 ATCTTTTAGAGAATCAATCTA 0.328000 24 11 0 0 1 0 0 HBG1 3047 broad.mit.edu 37 11 5275625 5275625 + Missense_Mutation SNP G A A rs151258456 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5275625G>A uc001mai.1 - 1 649 c.212C>T c.(211-213)tCc>tTc p.S71F HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.S71F NM_000559 NP_000550 P69891 HBG1_HUMAN Homo sapiens hemoglobin, gamma A (HBG1), mRNA. 71 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding p.S71F(1) large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCTCCCAAGGAAGTCAGCAC 0.532000 119 15 0 0 1 0 0 GAS2 2620 broad.mit.edu 37 11 22707215 22707215 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:22707215G>A uc009yie.3 + 3 452 c.146_splice c.e3-1 p.G49_splice GAS2_uc001mqm.3_Splice_Site_p.G49_splice|GAS2_uc001mqn.3_Splice_Site|GAS2_uc001mqo.3_Splice_Site_p.G49_splice NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 49 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 TTATTTCAGGGAAGGAGATTA 0.343000 49 15 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6182295 6182295 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:6182295C>A uc003mwv.3 - 10 1508 c.1385G>T c.(1384-1386)gGg>gTg p.G462V F13A1_uc011dib.2_Missense_Mutation_p.G399V NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 462 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AATTAATTTCCCAATGTGGGT 0.408000 47 10 4.68919e-08 4.72998e-08 1 1 0 KIR3DL2 3812 broad.mit.edu 37 19 55331329 55331329 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55331329G>C uc002qhl.4 + 3 580 c.517G>C c.(517-519)Gat>Cat p.D173H KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.D173H|KIR3DL2_uc010esf.3_Missense_Mutation_p.D78H|KIR3DL2_uc021vbo.1_Missense_Mutation_p.D173H|KIR3DL2_uc002qhk.4_Missense_Mutation_p.D173H P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 173 Ig-like C2-type 2. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) ACAGATCCATGATGGGGTCTC 0.507000 104 41 0 0 1 0 0 HNMT 3176 broad.mit.edu 37 2 138759652 138759652 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:138759652C>T uc002tvf.3 + 3 571 c.317C>T c.(316-318)tCg>tTg p.S106L NM_006895 NP_008826 P50135 HNMT_HUMAN Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1, mRNA. 106 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) GCCAAGACATCGAACCTCGAG 0.363000 18 14 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73486351 73486351 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:73486351C>T uc010wsa.2 + 8 1213 c.1021C>T c.(1021-1023)Cca>Tca p.P341S KIAA0195_uc002jnz.4_Missense_Mutation_p.P331S|KIAA0195_uc010wsb.2_5'UTR NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 331 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTGCTCTTTCCAGTCCTCTG 0.632000 138 30 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36537946 36537946 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:36537946G>A uc003aot.3 - 2 549 c.511C>T c.(511-513)Cgt>Tgt p.R171C APOL3_uc003aoq.3_Missense_Mutation_p.R100C|APOL3_uc003aor.3_Missense_Mutation_p.R100C|APOL3_uc003aos.3_Missense_Mutation_p.R100C|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank NM_145640 NP_663617 O95236 APOL3_HUMAN Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA. 171 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 GCAAGGGCACGAAGCTTTTCT 0.502000 71 18 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117244292 117244292 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:117244292C>T uc003pxm.3 + 13 1523 c.1460C>T c.(1459-1461)tCa>tTa p.S487L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 487 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 AATGGAAGGTCATTAAAGAAG 0.368000 23 23 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45322338 45322338 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:45322338A>T uc002ozu.3 + 10 1406 c.1362A>T c.(1360-1362)gaA>gaT p.E454D BCAM_uc002ozt.1_Missense_Mutation_p.E454D NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 454 Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity p.A453A(1) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AGACAGCGGAAATAGAGCCCA 0.572000 120 48 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678234 66678234 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:66678234G>A uc002lkk.2 + 8 1550 c.1327G>A c.(1327-1329)Gaa>Aaa p.E443K CCDC102B_uc002lki.2_Missense_Mutation_p.E443K NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 443 p.E443*(2) breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAATATTGCAGAACTGACTCA 0.343000 9 10 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48267915 48267915 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48267915G>A uc002iqm.3 - 33 2512 c.2386C>T c.(2386-2388)Cgt>Tgt p.R796C NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 796 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GGGGCACCACGAGCTCCAGTG 0.602000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 168 26 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 155490 155490 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:155490G>A uc003jak.2 + 6 1122 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 358 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AAACTGTGAAGAAGCCATCAT 0.458000 69 17 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080082 5080082 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5080082G>A uc010qyw.2 - 0 776 c.776C>T c.(775-777)tCc>tTc p.S259F NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA. 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGTCATAAAGGAAAAGAGGGC 0.473000 27 15 0 0 1 0 0 DEFB121 245934 broad.mit.edu 37 20 29993905 29993905 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:29993905G>A uc002wvv.2 - 0 165 c.51C>T c.(49-51)gtC>gtT p.V17V DEFB121_uc021wbq.1_Intron NM_001011878 NP_001011878 Q5J5C9 DB121_HUMAN Homo sapiens defensin, beta 121 (DEFB121), transcript variant 1, mRNA. 17 defense response to bacterium extracellular region large_intestine(1)|lung(1) 2 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TACCTGGGGTGACCTGGGCCA 0.507000 25 12 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990741 21990741 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:21990741G>A uc002nqj.3 - 3 2228 c.2098C>T c.(2098-2100)Cat>Tat p.H700Y ZNF43_uc002nql.3_Missense_Mutation_p.H694Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H694Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H694Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H630Y NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCTCCAGTATGAATAATCTTA 0.353000 20 7 0 0 1 0 0 PMM1 5372 broad.mit.edu 37 22 41974862 41974862 + Silent SNP G A A rs999980 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:41974862G>A uc003bal.2 - 5 560 c.498C>T c.(496-498)ttC>ttT p.F166F NM_002676 NP_002667 Q92871 PMM1_HUMAN Homo sapiens phosphomannomutase 1 (PMM1), mRNA. 166 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity p.F166F(2) NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 GGGCTTCCACGAACTTCTCCC 0.617000 32 11 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91793242 91793242 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:91793242G>A uc004aqf.2 - 0 441 c.134C>T c.(133-135)cCc>cTc p.P45L NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 45 Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CACCAAGTAGGGAgccgccgc 0.697000 12 11 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812849 1812849 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:1812849C>T uc010uvl.2 + 15 1860 c.1740C>T c.(1738-1740)ctC>ctT p.L580L MAPK8IP3_uc002cmk.3_Silent_p.L579L|MAPK8IP3_uc002cml.3_Silent_p.L569L|MAPK8IP3_uc021tah.1_Silent_p.L573L NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 579 vesicle-mediated transport Golgi membrane MAP-kinase scaffold activity|kinesin binding|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCAGCCGCCTCTTCAGCTCTT 0.672000 80 34 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123199634 123199634 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:123199634G>A uc004bkf.3 - 24 4075 c.3894C>T c.(3892-3894)ttC>ttT p.F1298F CDK5RAP2_uc010mvi.3_Silent_p.F307F|CDK5RAP2_uc004bke.3_Silent_p.F583F|CDK5RAP2_uc004bkg.3_Silent_p.F1298F|CDK5RAP2_uc011lxw.2_Silent_p.F563F|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.F563F|CDK5RAP2_uc011lya.2_Silent_p.F563F|CDK5RAP2_uc004bkh.1_Silent_p.F1068F|CDK5RAP2_uc004bki.3_Silent_p.F1065F NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 1298 G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GCTGTTCCTGGAAACCCTCGG 0.483000 27 7 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398514 89398514 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:89398514G>A uc010upo.1 + 11 3072 c.2698G>A c.(2698-2700)Gac>Aac p.D900N ACAN_uc010upp.1_Missense_Mutation_p.D900N|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 900 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGGAGACCTGGACTCCAGTGG 0.572000 60 10 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757303 56757303 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:56757303G>A uc010rjp.2 + 0 915 c.915G>A c.(913-915)ggG>ggA p.G305G NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAGTGATAGGGAAAAAGTTAT 0.303000 19 3 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479988 142479988 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142479988C>T uc011ksq.2 + 1 203 c.120C>T c.(118-120)tcC>tcT p.S40S TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. ACCAGGTGTCCTTGAATTCTG 0.557000 142 50 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41186276 41186276 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:41186276C>T uc003jmk.2 - 5 832 c.622G>A c.(622-624)Gtc>Atc p.V208I C6_uc003jml.1_Missense_Mutation_p.V208I NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 208 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTATCAAGGACTTCTCCTCTG 0.383000 42 10 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100346083 100346083 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100346083C>T uc003uwj.3 + 10 1404 c.1239C>T c.(1237-1239)ttC>ttT p.F413F ZAN_uc003uwk.3_Silent_p.F413F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 413 MAM 3. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CGGGAGGTTTCCCTAATGCAG 0.582000 12 8 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140736223 140736223 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140736223C>T uc003ljq.2 + 0 1456 c.1456C>T c.(1456-1458)Cga>Tga p.R486* PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Nonsense_Mutation_p.R486* NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 488 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAATGCCCGAATCACTTA 0.507000 95 31 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1084320 1084320 + Nonsense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:1084320A>T uc001lsx.1 + 18 2479 c.2452A>T c.(2452-2454)Aag>Tag p.K818* NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 818 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CGTGGTGGAGAAGGAATGCCC 0.612000 19 4 0 0 1 0 0 C14orf180 400258 broad.mit.edu 37 14 105054105 105054105 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:105054105C>T uc001yow.1 + 2 432 c.131C>T c.(130-132)cCc>cTc p.P44L C14orf180_uc010tyh.1_Missense_Mutation_p.P44L|C14orf180_uc010awy.1_Missense_Mutation_p.P44L NM_001008404 NP_001008404 Q8N912 CN180_HUMAN Homo sapiens chromosome 14 open reading frame 180 (C14orf180), mRNA. 44 integral to membrane Melanoma(154;0.226) all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.127) AGGAAGTGCCCCCCCTCCATC 0.701000 5 14 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA 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 51 32 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890381 229890381 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:229890381C>T uc002vpr.4 - 2 758 c.720G>A c.(718-720)gaG>gaA p.E240E PID1_uc002vps.4_Silent_p.E238E|PID1_uc002vpt.4_Silent_p.E207E|PID1_uc002vpu.4_Silent_p.E158E NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 240 PID. cytoplasm p.S240P(1) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CCTGGGAAACCTCTTCGGAGG 0.522000 49 16 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149417945 149417945 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:149417945C>T uc003wfz.3 + 3 573 c.174C>T c.(172-174)agC>agT p.S58S KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 58 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCGGCACAGCCTGCACCTCA 0.647000 9 3 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45980212 45980212 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:45980212G>A uc001coc.3 - 4 796 c.481C>T c.(481-483)Cag>Tag p.Q161* PRDX1_uc001cob.3_Nonsense_Mutation_p.Q161*|PRDX1_uc001coa.3_Nonsense_Mutation_p.Q161*|PRDX1_uc021omw.1_Nonsense_Mutation_p.Q161* NM_181696 NP_859048 Q06830 PRDX1_HUMAN Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA. 161 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) TGGAAGGCCTGAACTAGTCTC 0.493000 120 153 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71415410 71415410 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:71415410G>A uc010dfm.3 - 15 2081 c.2081C>T c.(2080-2082)cCa>cTa p.P694L SDK2_uc010dfn.2_Missense_Mutation_p.P373L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 694 Fibronectin type-III 2. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GACGTTCTGTGGAGGGGCCGT 0.562000 30 9 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39265883 39265883 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:39265883C>T uc001uwv.3 + 0 4711 c.4402C>T c.(4402-4404)Cac>Tac p.H1468Y NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1468 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) CATGCGAGGTCACCTGGAATG 0.478000 28 9 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39513431 39513431 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:39513431G>A uc003oot.2 - 10 1310 c.1215C>T c.(1213-1215)gaC>gaT p.D405D KIF6_uc010jxa.1_Silent_p.D196D|KIF6_uc011dua.1_Silent_p.D405D|KIF6_uc010jxb.1_Silent_p.D405D NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 405 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTGAATCCTGGTCTTCCAAAA 0.348000 80 15 0 0 1 0 0 TMEM62 80021 broad.mit.edu 37 15 43473391 43473391 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:43473391T>G uc001zqr.3 + 12 1778 c.1499T>G c.(1498-1500)tTt>tGt p.F500C TMEM62_uc010bda.3_Missense_Mutation_p.F335C NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN Homo sapiens transmembrane protein 62 (TMEM62), mRNA. 500 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) CCATGGTTTTTTGGTGAAATC 0.313000 169 21 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134942227 134942227 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:134942227G>A uc001llw.3 + 15 3052 c.3052G>A c.(3052-3054)Gga>Aga p.G1018R GPR123_uc001llx.4_Missense_Mutation_p.G299R Q86SQ6 GP123_HUMAN Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA. 299 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CGTGACCCTGGGACTCTTCGT 0.672000 39 10 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67086709 67086709 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:67086709G>A uc003xvv.3 + 9 1754 c.1528G>A c.(1528-1530)Gga>Aga p.G510R TRIM55_uc003xvu.3_Nonsense_Mutation_p.W539*|TRIM55_uc003xvw.3_Missense_Mutation_p.G414R|TRIM55_uc003xvx.3_Missense_Mutation_p.G203R NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 510 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ATTGCAGATTGGATTTGAGGC 0.453000 60 19 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35690558 35690558 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:35690558G>A uc002xgi.3 - 7 1091 c.1012C>T c.(1012-1014)Cgt>Tgt p.R338C RBL1_uc002xgj.1_Missense_Mutation_p.R338C|RBL1_uc010gfv.1_Non-coding_Transcript NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 338 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GGGGTGTCACGAGTGAACTTT 0.428000 39 8 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101582126 101582127 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:101582126_101582127CC>TT uc010yvt.1 + 9 1002_1003 c.1000_1001CC>TT c.(1000-1002)cct>TTt p.P334F NPAS2_uc002tap.1_Missense_Mutation_p.P269F NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 269 PAC. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTGCAGAGCACCTCCAATCATA 0.545000 52 14 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588678 20588678 + Missense_Mutation SNP C T T rs77996677 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:20588678C>T uc001ytg.3 - 26 4092 c.3383G>A c.(3382-3384)aGa>aAa p.R1128K HERC2P3_uc010tyx.1_Non-coding_Transcript 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 TGTAGTTCTTCTTCTCCAAAA 0.333000 61 11 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377379 77377379 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:77377379G>A uc004ajl.1 - 25 4446 c.4208C>T c.(4207-4209)cCc>cTc p.P1403L TRPM6_uc004ajk.1_Missense_Mutation_p.P1398L|TRPM6_uc022bib.1_Missense_Mutation_p.P1398L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P359L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1403 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTTTTCCTTGGGTTCATCCAC 0.512000 38 23 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100201349 100201349 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:100201349G>A uc003hur.2 - 6 1030 c.916C>T c.(916-918)Cct>Tct p.P306S LOC100507053_uc003hum.2_Intron NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 306 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) AGCAGCATAGGGTTCATTGAG 0.473000 91 47 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45916994 45916994 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:45916994C>T uc002imd.3 - 3 498 c.372G>A c.(370-372)cgG>cgA p.R124R SCRN2_uc002imf.3_Silent_p.R124R NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA. 124 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 CAGAGCTGCTCCGTTCCAAAG 0.607000 134 30 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67079036 67079036 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:67079036G>A uc002jhw.1 - 35 4769 c.4594C>T c.(4594-4596)Cca>Tca p.P1532S NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1532 transport integral to membrane ATP binding|ATPase activity p.P1532Q(1)|p.P1532L(1) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GCAGCCTGTGGGAAAAGCTTC 0.438000 291 49 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70525792 70525792 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:70525792C>T uc001joo.3 + 16 2373 c.2254C>T c.(2254-2256)Cta>Tta p.L752L CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Silent_p.L557L|CCAR1_uc009xpx.1_Silent_p.L726L|CCAR1_uc001jon.1_Silent_p.L698L|CCAR1_uc010qiz.1_Silent_p.L737L|CCAR1_uc010qja.1_Silent_p.L737L|CCAR1_uc010qjb.2_Non-coding_Transcript NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA. 752 Glu-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding p.L752P(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTGAGTGTCCTATTGGACTA 0.348000 51 12 0 0 1 0 0 ASB16 92591 broad.mit.edu 37 17 42255665 42255666 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:42255665_42255666GG>AA uc002ifl.1 + 4 1353_1354 c.1269_1270GG>AA c.(1267-1272)ttggga>ttAAga p.G424R ASB16_uc002ifm.1_Non-coding_Transcript|C17orf65_uc002ifn.3_Intron|C17orf65_uc021tyb.1_5'Flank NM_080863 NP_543139 Q96NS5 ASB16_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA. 424 SOCS box. intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GCGCTCGGTTGGGAAGCCGCTG 0.673000 27 11 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142123791 142123791 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:142123791G>A uc003eus.3 - 15 1908 c.1841C>T c.(1840-1842)cCa>cTa p.P614L XRN1_uc010huu.3_Missense_Mutation_p.P80L|XRN1_uc003eut.3_Missense_Mutation_p.P614L|XRN1_uc003euu.3_Missense_Mutation_p.P614L|XRN1_uc003euv.1_Missense_Mutation_p.P475L NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 614 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TTCTGGCCATGGAGAAGGATA 0.418000 31 6 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41798325 41798325 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:41798325C>T uc002oqb.4 + 7 1464 c.1175C>T c.(1174-1176)tCt>tTt p.S392F HNRNPUL1_uc002opz.4_Missense_Mutation_p.S292F|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.S292F|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.S392F|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.S278F|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.S292F|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.S292F|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.S292F|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.S248F|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.S292F NM_007040 NP_653333 Q9BUJ2 HNRL1_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA. 392 Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|enzyme binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CCCTACTGTTCTGTCCTCCCG 0.567000 33 15 0 0 1 0 0 RHOG 391 broad.mit.edu 37 11 3849110 3849110 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:3849110G>A uc021qcn.1 - 0 259 c.259C>T c.(259-261)Ccg>Tcg p.P87S RHOG_uc001lyu.2_Missense_Mutation_p.P87S NM_001665 NP_001656 P84095 RHOG_HUMAN Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA. 87 Rac protein signal transduction|Rho protein signal transduction|actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent cytosol|plasma membrane GTP binding|GTPase activity|protein binding endometrium(2) 2 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194) TAGGACGGCGGACTGGCAATG 0.592000 25 14 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33143390 33143390 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:33143390C>T uc003ocx.1 - 29 2565 c.2337G>A c.(2335-2337)ccG>ccA p.P779P COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P693P|COL11A2_uc003ocz.1_Silent_p.P672P NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 779 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGTCTCCAGTCGGTCCAGTGC 0.647000 98 23 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69561262 69561262 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:69561262C>T uc002ary.1 + 4 1761 c.1533C>T c.(1531-1533)ggC>ggT p.G511G NM_015554 NP_056369 O94923 GLCE_HUMAN Homo sapiens glucuronic acid epimerase (GLCE), mRNA. 511 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 TTTTAAATGGCTTTATGTATT 0.383000 27 26 0 0 1 0 0 CORO1C 23603 broad.mit.edu 37 12 109055900 109055900 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:109055900G>A uc009zva.3 - 3 561 c.512C>T c.(511-513)tCc>tTc p.S171F CORO1C_uc001tnj.3_Missense_Mutation_p.S118F|CORO1C_uc010sxf.2_Missense_Mutation_p.S118F NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA. 118 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 TTCAGTCAGGGAAAGGGTGAG 0.488000 26 5 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111441454 111441454 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:111441454G>A uc003iab.4 + 9 2001 c.1659G>A c.(1657-1659)aaG>aaA p.K553K NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 553 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.K553N(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ACGGTGTCAAGAACATCACAC 0.438000 32 13 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87399966 87399966 + Silent SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:87399966T>G uc003ujb.3 + 7 1161 c.750T>G c.(748-750)acT>acG p.T250T RUNDC3B_uc011khd.1_Silent_p.T233T|RUNDC3B_uc011khe.2_Silent_p.T233T|RUNDC3B_uc003ujc.3_Silent_p.T233T|RUNDC3B_uc003ujd.3_Silent_p.T155T NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA. 250 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) AAAGCAGTACTCCAGAGAATG 0.418000 25 12 0 0 1 0 0 CYTL1 54360 broad.mit.edu 37 4 5018646 5018646 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:5018646G>A uc003gig.3 - 2 269 c.244C>T c.(244-246)Ccg>Tcg p.P82S NM_018659 NP_061129 Q9NRR1 CYTL1_HUMAN Homo sapiens cytokine-like 1 (CYTL1), mRNA. 82 signal transduction extracellular space|soluble fraction receptor binding p.P82P(1) breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TTCCAACACGGGGGCGAGGCC 0.547000 90 44 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986686 44986686 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:44986686G>A uc003cod.3 - 2 679 c.405C>T c.(403-405)atC>atT p.I135I ZDHHC3_uc003cog.3_Silent_p.I135I|ZDHHC3_uc021wws.1_5'UTR NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA. 135 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) GGTCGGGCTTGATGCTGCAGC 0.587000 79 31 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531943 140531943 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140531943C>T uc003lir.3 + 0 2105 c.2105C>T c.(2104-2106)tCg>tTg p.S702L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 702 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.S702L(2)|p.S702A(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCTTTTCGGTGCTCCTG 0.687000 199 77 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371741 139371741 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:139371741G>A uc004chx.3 - 2 636 c.327C>T c.(325-327)ccC>ccT p.P109P SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Silent_p.P109P|SEC16A_uc010nbn.3_Silent_p.P109P|SEC16A_uc010nbo.1_Silent_p.P109P NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 2079 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GTCCAGGCAGGGGCTCACAGG 0.592000 72 22 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74133899 74133899 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:74133899C>T uc002jqx.3 - 2 1156 c.801G>A c.(799-801)gaG>gaA p.E267E LOC100507218_uc002jqy.2_5'Flank NM_001454 NP_001445 Q92949 FOXJ1_HUMAN Homo sapiens forkhead box J1 (FOXJ1), mRNA. 267 GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729). actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) CCAGCCTGCCCTCGCCTGCAC 0.746000 16 3 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897663 36897663 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:36897663G>A uc003cgj.3 - 11 3666 c.3418C>T c.(3418-3420)Ccc>Tcc p.P1140S NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1140 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGCTGGTGGGGATGTTCTGGT 0.522000 43 15 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031228 33031228 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:33031228G>A uc001rlj.4 - 2 701 c.586C>T c.(586-588)Cgt>Tgt p.R196C PKP2_uc001rlk.4_Missense_Mutation_p.R196C|PKP2_uc010skj.2_Missense_Mutation_p.R196C NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 196 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ATCTCGGAACGAGCATATCTC 0.607000 57 31 0 0 1 0 0 JHDM1D 80853 broad.mit.edu 37 7 139797366 139797366 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:139797366G>A uc003vvm.3 - 14 1999 c.1995C>T c.(1993-1995)tcC>tcT p.S665S JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 665 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ACTCGGGTCCGGAGTCTTCTG 0.453000 17 15 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226446814 226446814 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:226446814C>T uc002voe.2 + 3 856 c.681C>T c.(679-681)tcC>tcT p.S227S NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 227 GGGACTCCTCCTTGTCCCAGA 0.587000 82 49 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184049273 184049273 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:184049273C>T uc003fnp.3 + 29 4545 c.4274C>T c.(4273-4275)aCc>aTc p.T1425I EIF4G1_uc010hxx.3_Missense_Mutation_p.T1432I|EIF4G1_uc003fnt.3_Missense_Mutation_p.T1136I|EIF4G1_uc010hxy.3_Missense_Mutation_p.T1432I|EIF4G1_uc003fnq.3_Missense_Mutation_p.T1338I|EIF4G1_uc003fnr.3_Missense_Mutation_p.T1261I|EIF4G1_uc003fns.3_Missense_Mutation_p.T1385I|EIF4G1_uc003fnv.4_Missense_Mutation_p.T1426I|EIF4G1_uc003fnw.3_Missense_Mutation_p.T1432I|EIF4G1_uc003fnx.3_Missense_Mutation_p.T1230I NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 1425 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTGGAGTATACCCTGGGAGAG 0.557000 136 44 0 0 1 0 0 SLC29A3 55315 broad.mit.edu 37 10 73082626 73082626 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:73082626C>T uc001jrr.4 + 1 172 c.115C>T c.(115-117)Ccg>Tcg p.P39S SLC29A3_uc001jrs.4_Missense_Mutation_p.P39S|SLC29A3_uc010qjq.2_5'UTR|SLC29A3_uc001jrt.4_5'UTR NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA. 39 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 GCTGGACCGCCCGCCCCCTGG 0.567000 82 25 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080226 23080226 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:23080226G>A uc002dll.3 - 15 3200 c.3200C>T c.(3199-3201)tCt>tTt p.S1067F USP31_uc002dlk.3_Missense_Mutation_p.S339F|USP31_uc010vca.2_Missense_Mutation_p.S370F|USP31_uc010bxm.3_Missense_Mutation_p.S355F NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1067 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGGCTTTAGAGAGACTTTTAC 0.557000 56 10 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306220 2306220 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:2306220G>A uc003gex.2 - 7 2167 c.1847C>T c.(1846-1848)cCc>cTc p.P616L ZFYVE28_uc011bvk.2_Missense_Mutation_p.P546L|ZFYVE28_uc011bvl.2_Missense_Mutation_p.P586L|ZFYVE28_uc003gew.2_Missense_Mutation_p.P502L NM_020972 NP_001166130 Q9HCC9 LST2_HUMAN Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA. 616 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 ATCTTCTGAGGGTGGGGGCGC 0.667000 61 32 0 0 1 0 0 CARD8 22900 broad.mit.edu 37 19 48715041 48715042 + Silent DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:48715041_48715042GG>AA uc010xzj.2 - 10 1582_1583 c.1539_1540CC>TT c.(1537-1542)gccctg>gcTTtg p.513_514AL>AL CARD8_uc002pii.4_3'UTR|CARD8_uc002pid.1_Intron|CARD8_uc010xzi.1_Intron|CARD8_uc010els.3_3'UTR|CARD8_uc010xzk.2_Silent_p.432_433AL>AL|CARD8_uc002pie.4_Silent_p.407_408AL>AL|CARD8_uc002pif.4_3'UTR|CARD8_uc021uwq.1_Silent_p.407_408AL>AL|CARD8_uc021uwr.1_3'UTR|CARD8_uc002pig.4_Silent_p.238_239AL>AL|CARD8_uc002pih.4_Silent_p.463_464AL>AL|CARD8_uc010xzl.2_Silent_p.463_464AL>AL|CARD8_uc010xzm.2_3'UTR NM_001184900 NP_001171829 Q9Y2G2 CARD8_HUMAN Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA. 407 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus NACHT domain binding|caspase activator activity|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) AGCACGTCCAGGGCCAGGTCCC 0.490000 111 36 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131418796 131418796 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:131418796G>A uc011blq.2 - 3 553 c.443C>T c.(442-444)tCc>tTc p.S148F CPNE4_uc003eok.3_Missense_Mutation_p.S130F|CPNE4_uc003eol.3_Missense_Mutation_p.S148F|CPNE4_uc003eom.3_Missense_Mutation_p.S130F NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 130 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 CTTCAGCAAGGATTTGGACAG 0.448000 18 11 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100443865 100443865 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:100443865G>A uc003yiv.3 + 21 3294 c.3183G>A c.(3181-3183)tgG>tgA p.W1061* VPS13B_uc003yiw.3_Nonsense_Mutation_p.W1061*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.W1061*|VPS13B_uc003yix.1_Nonsense_Mutation_p.W531* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1061 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GAATTGTTTGGAATGCAGTGA 0.323000 32 8 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326802 142326802 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142326802G>A uc003vzo.2 + 1 295 c.100G>A c.(100-102)Gaa>Aaa p.E34K TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GTTCAGAAAGGAAGGACAGAA 0.517000 63 40 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26941582 26941582 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:26941582G>A uc001wqa.3 - 4 883 c.97C>T c.(97-99)Cca>Tca p.P33S NOVA1_uc001wpy.3_Missense_Mutation_p.P155S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Missense_Mutation_p.P155S NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 158 RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GTGGTAGTTGGGGAAGATGGC 0.393000 2 10 0 0 1 0 0 HDGFL1 154150 broad.mit.edu 37 6 22569993 22569993 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:22569993G>A uc003nds.3 + 0 316 c.189G>A c.(187-189)aaG>aaA p.K63K NM_138574 NP_612641 Q5TGJ6 HDGL1_HUMAN Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA. 63 kidney(1)|large_intestine(3)|lung(7) 11 Ovarian(93;0.163) AGGAGTGCAAGGAGAAGTTCG 0.607000 24 10 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76893173 76893173 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:76893173C>T uc001oyb.2 + 23 3353 c.3081C>T c.(3079-3081)ctC>ctT p.L1027L MYO7A_uc010rsl.2_Silent_p.L1027L|MYO7A_uc010rsm.1_Silent_p.L1016L|MYO7A_uc001oyc.2_Silent_p.L1027L|MYO7A_uc001oyd.3_Silent_p.L367L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.L238L NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1027 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGCCACTGCTCTACCATGACG 0.602000 37 13 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145004365 145004366 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:145004365_145004366GG>AA uc003zaf.1 - 20 3139_3140 c.2969_2970CC>TT c.(2968-2970)tcc>tTT p.S990F PLEC_uc003zab.1_Missense_Mutation_p.S853F|PLEC_uc003zac.1_Missense_Mutation_p.S857F|PLEC_uc003zad.2_Missense_Mutation_p.S853F|PLEC_uc003zae.1_Missense_Mutation_p.S821F|PLEC_uc003zag.1_Missense_Mutation_p.S831F|PLEC_uc003zah.2_Missense_Mutation_p.S839F|PLEC_uc003zaj.2_Missense_Mutation_p.S880F NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 990 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGAAGCACACGGAGGGCACGGC 0.723000 12 4 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103629587 103629587 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:103629587C>T uc022ajr.1 - 0 377 c.217G>A c.(217-219)Gaa>Aaa p.E73K RELN_uc022ajq.1_Missense_Mutation_p.E73K|RELN_uc010liz.3_Missense_Mutation_p.E73K NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 73 Reelin. 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 p.E73A(1) 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) CCATGGTATTCTTGTCCCGGA 0.647000 60 10 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119064768 119064768 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:119064768C>T uc003ibx.3 + 5 1871 c.1468C>T c.(1468-1470)Cca>Tca p.P490S NDST3_uc011cgf.1_Missense_Mutation_p.P409S NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 490 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CAAAGAATATCCAGGGGGTCC 0.383000 28 11 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160490958 160490958 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:160490958C>T uc003qta.3 + 30 4459 c.4311C>T c.(4309-4311)ctC>ctT p.L1437L NM_000876 NP_000867 P11717 MPRI_HUMAN Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA. 1437 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CCGTGAACCTCGGCAGGGTAA 0.547000 19 3 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113703941 113703941 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:113703941C>T uc011lwo.2 - 1 558 c.556G>A c.(556-558)Ggc>Agc p.G186S LPAR1_uc004bfa.3_Missense_Mutation_p.G185S|LPAR1_uc011lwm.2_Missense_Mutation_p.G186S|LPAR1_uc004bfc.3_Missense_Mutation_p.G185S|LPAR1_uc011lwn.2_Missense_Mutation_p.G167S|LPAR1_uc004bfb.3_Missense_Mutation_p.G185S|LPAR1_uc010mub.3_Missense_Mutation_p.G185S NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 185 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 CAGTTCCAGCCCACACTGGGT 0.502000 55 42 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52554978 52554978 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52554978G>A uc003dej.3 + 54 5939 c.5865G>A c.(5863-5865)tgG>tgA p.W1955* STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1955 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCACCACCTGGAAGCCCAGCT 0.607000 19 17 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233995312 233995312 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:233995312C>T uc010zmo.2 + 4 772 c.619C>T c.(619-621)Cct>Tct p.P207S INPP5D_uc010zmp.2_Missense_Mutation_p.P206S NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 207 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAGCAGTCTTCCTCACCTGAA 0.552000 7 14 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444164 5444164 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5444164C>T uc010qzd.2 + 0 824 c.734C>T c.(733-735)tCc>tTc p.S245F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACTGCCTGTCCCACATTCTA 0.493000 56 25 0 0 1 0 0 OR13C5 138799 broad.mit.edu 37 9 107360982 107360982 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:107360982G>A uc011lvp.2 - 0 713 c.713C>T c.(712-714)tCc>tTc p.S238F NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA. 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GCAGGTAGAGGAAGGTTTGCT 0.408000 50 32 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91445196 91445196 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:91445196C>T uc001tbl.3 - 2 1605 c.986G>A c.(985-987)gGa>gAa p.G329E NM_007035 NP_008966 O60938 KERA_HUMAN Homo sapiens keratocan (KERA), mRNA. 329 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 GATTTCATTTCCATCCAGACG 0.433000 33 18 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117002512 117002512 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:117002512G>A uc011lxl.2 + 19 2740 c.2740G>A c.(2740-2742)Gac>Aac p.D914N COL27A1_uc004bii.3_Non-coding_Transcript NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 914 Collagen-like 5.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ATTCCCAGGAGACATCGGCCC 0.622000 48 28 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124746350 124746350 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:124746350G>A uc011bke.2 - 3 679 c.611_splice c.e3-1 p.A204_splice HEG1_uc003ehs.4_Splice_Site_p.A204_splice NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 204 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GACTTTCTGAGGCTGAAAACA 0.418000 24 7 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389661 20389661 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:20389661G>A uc010tkw.2 + 0 896 c.896G>A c.(895-897)aGg>aAg p.R299K NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTGCCGTAAGGAAAATTGTG 0.383000 44 24 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182554145 182554145 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:182554145C>T uc003flb.3 + 5 696 c.439C>T c.(439-441)Cga>Tga p.R147* ATP11B_uc003fla.3_Nonsense_Mutation_p.R147* NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA. 147 ATP biosynthetic process|aminophospholipid transport integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TGATATTGTTCGAATAGCCAA 0.398000 104 29 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52129284 52129285 + Splice_Site DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:52129284_52129285CC>TT uc002pxe.3 - 8 1603 c.1464_splice c.e8+1 p.S488_splice NM_003830 NP_003821 O15389 SIGL5_HUMAN Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA. 488 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) AAACCACTCACCGAGGTGATGG 0.525000 17 12 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194373795 194373795 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:194373795G>A uc003fui.3 - 7 1151 c.836C>T c.(835-837)tCc>tTc p.S279F NM_018385 NP_060855 Q9H089 LSG1_HUMAN Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA. 279 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TTCACTGTGGGAAATTTCAGC 0.443000 78 28 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11521455 11521455 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:11521455C>T uc021zzo.1 - 6 2229 c.1977G>A c.(1975-1977)caG>caA p.Q659Q THSD7A_uc021zzn.1_Silent_p.Q659Q NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 659 TSP type-1 6. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTGCTCGTATCTGTTTCCCTT 0.522000 HNSCC(18;0.044) 52 18 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28321268 28321268 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:28321268G>A uc003xgu.3 - 3 301 c.203C>T c.(202-204)tCc>tTc p.S68F ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.S55F NM_172366 NP_758954 Q8IX29 FBX16_HUMAN Homo sapiens F-box protein 16 (FBXO16), mRNA. 68 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) CTTTTGCTGGGACAGCGAGCA 0.428000 32 3 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41101087 41101087 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:41101087G>A uc002xkg.3 - 7 1453 c.1269C>T c.(1267-1269)acC>acT p.T423T PTPRT_uc010ggj.3_Silent_p.T423T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 423 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.L422F(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGTACTGCACGGTGAGGTTGT 0.607000 51 17 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089417 9089417 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9089417C>T uc002mkp.3 - 0 2602 c.2398G>A c.(2398-2400)Gaa>Aaa p.E800K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 800 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G799V(1) 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 GCTGTCTCTTCCCCTGATGGA 0.512000 94 34 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3889520 3889520 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:3889520G>A uc022aqr.1 - 3 907 c.517C>T c.(517-519)Cct>Tct p.P173S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 173 Sushi 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATGTAGCCAGGGAGGCAGCTG 0.517000 21 6 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75427623 75427623 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:75427623G>A uc003kei.1 + 1 182 c.48G>A c.(46-48)aaG>aaA p.K16K NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 16 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) AGGGTGCCAAGGACATTGCCA 0.468000 41 10 0 0 1 0 0 SLC41A1 254428 broad.mit.edu 37 1 205767084 205767085 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:205767084_205767085CC>TT uc001hdh.1 - 6 1811_1812 c.939_940GG>AA c.(937-942)agggag>agAAag p.E314K SLC41A1_uc001hdg.1_5'Flank|AX748016_uc001hdi.1_5'Flank NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA. 314 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) TACAACACCTCCCTTGTGGCTG 0.589000 60 37 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881254 33881254 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:33881254C>T uc003jia.1 - 1 622 c.459G>A c.(457-459)ggG>ggA p.G153G ADAMTS12_uc010iuq.1_Silent_p.G153G|ADAMTS12_uc003jib.1_Silent_p.G153G NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 153 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGGCTGCCGTCCCAACTCTGG 0.587000 HNSCC(64;0.19) 43 24 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90342782 90342782 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:90342782C>T uc002bop.4 - 12 2120 c.1828G>A c.(1828-1830)Gat>Aat p.D610N NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 610 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CTGAAGAGATCGTTCTGGGCT 0.592000 215 33 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086143 56086143 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:56086143G>A uc010rjf.2 + 0 361 c.361G>A c.(361-363)Gac>Aac p.D121N NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D121N(2) 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) CATGTCCTACGACCTCTATGT 0.398000 53 12 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98080535 98080535 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:98080535G>A uc001kmf.3 + 3 838 c.668G>A c.(667-669)gGt>gAt p.G223D DNTT_uc001kmg.3_Missense_Mutation_p.G223D NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 223 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) AAGGTGAAGGGTATCATAGAG 0.463000 27 28 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058520 79058521 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:79058520_79058521GG>AA uc002bej.4 - 18 3943_3944 c.3732_3733CC>TT c.(3730-3735)tcccct>tcTTct p.P1245S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 1245 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTGCCAACAGGGGACAAAGGGG 0.658000 40 5 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64627611 64627611 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:64627611G>A uc003dmg.3 - 11 1801 c.1769C>T c.(1768-1770)tCc>tTc p.S590F ADAMTS9_uc011bfo.2_Missense_Mutation_p.S562F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S419F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S590F NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 590 TSP type-1 1. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACTTCCCCAGGATCCATCTGT 0.488000 43 31 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19445922 19445922 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:19445922C>T uc010tcj.1 - 0 c.188G>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. TTACATTAATCTTCTTATTAG 0.318000 9 5 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393604 145393604 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:145393604C>T uc003lnt.3 + 4 1277 c.1039C>T c.(1039-1041)Cct>Tct p.P347S SH3RF2_uc011dbl.1_Missense_Mutation_p.P347S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 347 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCAGACGTTCCTTCCAGCTG 0.527000 55 18 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84738731 84738731 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:84738731G>A uc021pvc.1 + 7 1465 c.1438G>A c.(1438-1440)Ggg>Agg p.G480R NRG3_uc010qlz.1_Missense_Mutation_p.G479R|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.G480R|NRG3_uc001kcp.2_Missense_Mutation_p.G259R|NRG3_uc001kcq.2_Missense_Mutation_p.G130R|NRG3_uc021pvd.1_Missense_Mutation_p.G259R|NRG3_uc021pve.1_Missense_Mutation_p.G284R|NRG3_uc021pvf.1_Missense_Mutation_p.G130R|NRG3_uc021pvg.1_Missense_Mutation_p.G284R|NRG3_uc021pvh.1_Missense_Mutation_p.G68R|NRG3_uc021pvi.1_Missense_Mutation_p.G310R|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.G130R|NRG3_uc021pvl.1_Missense_Mutation_p.G130R NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 480 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CTGCAGCCCAGGGCAAAGAAG 0.507000 22 3 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026503 153026503 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:153026503C>T uc011dcy.2 + 2 293 c.266C>T c.(265-267)tCc>tTc p.S89F GRIA1_uc003lva.4_Missense_Mutation_p.S79F|GRIA1_uc003luy.4_Missense_Mutation_p.S79F|GRIA1_uc003luz.4_5'UTR|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.S10F|GRIA1_uc011dcz.2_Missense_Mutation_p.S89F|GRIA1_uc010jia.1_Missense_Mutation_p.S59F NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 79 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCCCAGTTCTCCAAAGGAGTC 0.453000 72 18 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88483956 88483956 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:88483956G>A uc002bme.2 - 14 1920 c.1614C>T c.(1612-1614)atC>atT p.I538I NTRK3_uc002bmh.2_Silent_p.I530I|NTRK3_uc002bmf.2_Silent_p.I538I|NTRK3_uc021sua.1_Silent_p.I530I|NTRK3_uc010upl.1_Silent_p.I440I|NTRK3_uc010bnh.1_Silent_p.I530I NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 538 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.D537D(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GCTTCAGCACGATGTCTCTCC 0.537000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 144 16 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135432151 135432151 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:135432151G>A uc004ezu.1 + 5 6577 c.6286G>A c.(6286-6288)Gat>Aat p.D2096N GPR112_uc010nsb.1_Missense_Mutation_p.D1891N|GPR112_uc010nsc.1_Missense_Mutation_p.D1863N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2096 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AAATGTCACAGATGACATTGT 0.473000 23 46 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8137961 8137961 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:8137961G>A uc002mjf.3 - 60 7940 c.7923C>T c.(7921-7923)ttC>ttT p.F2641F FBN3_uc002mje.3_Silent_p.F437F NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 2641 EGF-like 44; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCCCAGCCCGGAAGTAGCCTT 0.647000 67 21 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348652 140348652 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140348652G>C uc003lii.3 + 0 2906 c.2301G>C c.(2299-2301)agG>agC p.R767S 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_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R767S NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 767 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) TTGATGCCAGGATACCGCATG 0.522000 28 23 0 0 1 0 0 TBC1D21 161514 broad.mit.edu 37 15 74180060 74180060 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:74180060G>A uc002avz.3 + 8 960 c.877G>A c.(877-879)Ggg>Agg p.G293R TBC1D21_uc010ulc.2_Missense_Mutation_p.G257R NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA. 293 intracellular Rab GTPase activator activity breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 AAGCATGGGCGGGGATGACAT 0.647000 116 25 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71465272 71465272 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:71465272G>A uc003hfl.3 + 4 304 c.203G>A c.(202-204)gGa>gAa p.G68E NM_016519 NP_057603 Q9NP70 AMBN_HUMAN Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA. 68 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TACGGCTTTGGAAAATCATTT 0.353000 22 20 0 0 1 0 0 ABTB1 80325 broad.mit.edu 37 3 127393292 127393292 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:127393292C>T uc003ejt.3 + 1 203 c.115C>T c.(115-117)Ccc>Tcc p.P39S ABTB1_uc003ejr.3_Intron|ABTB1_uc003ejs.3_Intron|ABTB1_uc003eju.3_Intron|ABTB1_uc010hsm.3_5'Flank NM_172027 NP_742024 Q969K4 ABTB1_HUMAN Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA. 39 cytoplasm|nucleolus|plasma membrane translation elongation factor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 GGACAGCACCCCCTTGTGAGT 0.622000 8 14 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34649626 34649626 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:34649626G>A uc010ucc.2 + 7 3799 c.3417G>A c.(3415-3417)caG>caA p.Q1139Q C15orf55_uc010ucd.2_Silent_p.Q1129Q|C15orf55_uc001zif.3_Silent_p.Q1111Q NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 1111 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GACCCTCACAGCCTCGTAAAA 0.582000 T """BRD3, BRD4""" lethal midline carcinoma 67 19 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866946 131866946 + Silent SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:131866946T>A uc003vra.4 - 16 3391 c.3162A>T c.(3160-3162)ggA>ggT p.G1054G NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1054 IPT/TIG 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGGGTGTGTTTCCACTGAGCA 0.493000 36 24 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90499872 90499872 + Nonsense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:90499872T>A uc004app.4 + 3 505 c.470T>A c.(469-471)tTa>tAa p.L157* FAM75E1_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 157 integral to membrane CACCTGCCCTTAGGTGGAGAC 0.632000 31 10 0 0 1 0 0 FAM132A 388581 broad.mit.edu 37 1 1177978 1177978 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:1177978G>A uc001adl.2 - 7 891 c.859C>T c.(859-861)Ctc>Ttc p.L287F NM_001014980 NP_001014980 Q5T7M4 F132A_HUMAN Homo sapiens family with sequence similarity 132, member A (FAM132A), mRNA. 287 extracellular region haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGGATGGTGAGGACGGCCCCG 0.687000 9 3 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11676374 11676374 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:11676374C>T uc021zzo.1 - 1 657 c.405G>A c.(403-405)gtG>gtA p.V135V THSD7A_uc021zzn.1_Silent_p.V135V NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 135 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTTTTGAAATCACGGGCTGAC 0.468000 HNSCC(18;0.044) 33 12 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119937958 119937958 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:119937958C>T uc001txe.3 + 5 1098 c.633C>T c.(631-633)ttC>ttT p.F211F AF086288_uc001txf.3_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA. 211 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GGGAGCATTTCATCACAGCGC 0.468000 11 49 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53974864 53974864 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:53974864C>T uc001cvr.1 - 8 2201 c.1634G>A c.(1633-1635)gGg>gAg p.G545E NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 545 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GTGGGTCTCCCCGACCAGTCC 0.652000 14 5 0 0 1 0 0 CCL13 6357 broad.mit.edu 37 17 32685087 32685087 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:32685087G>A uc002hic.3 + 2 309 c.234G>A c.(232-234)aaG>aaA p.K78K NM_005408 NP_005399 Q99616 CCL13_HUMAN Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA. 78 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity large_intestine(1)|prostate(1) 2 Ovarian(249;0.0443)|Breast(31;0.151) CTGACCCAAAGGAGAAGTGGG 0.502000 25 8 0 0 1 0 0 DAND5 199699 broad.mit.edu 37 19 13084298 13084298 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:13084298C>T uc002mwc.1 + 1 571 c.420C>T c.(418-420)acC>acT p.T140T DAND5_uc010dyz.1_3'UTR NM_152654 NP_689867 Q8N907 DAND5_HUMAN Homo sapiens DAN domain family, member 5 (DAND5), mRNA. 140 CTCK. extracellular region kidney(2)|lung(3)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CGGACCCCACCCCACTAGTCC 0.622000 49 26 0 0 1 0 0 PRSS27 83886 broad.mit.edu 37 16 2762732 2762732 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:2762732G>A uc002crf.3 - 5 1153 c.762C>T c.(760-762)gcC>gcT p.A254A PRSS27_uc002cre.3_Silent_p.A218A|PRSS27_uc002crg.3_Silent_p.A152A NM_031948 NP_114154 Q9BQR3 PRS27_HUMAN Homo sapiens protease, serine 27 (PRSS27), mRNA. 254 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 GGTTCTGGCGGGCACAGCCCT 0.682000 7 3 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559171 140559171 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140559171C>T uc011dai.2 + 0 1801 c.1556C>T c.(1555-1557)tCg>tTg p.S519L PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 519 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTCAGGTCGCTGGACTAC 0.687000 242 28 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110814670 110814670 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:110814670C>T uc001vqw.4 - 47 4491 c.4369G>A c.(4369-4371)Gac>Aac p.D1457N NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1457 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CACTGTGGGTCATCTATTGTT 0.552000 62 53 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46057908 46057908 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:46057908C>T uc002zfq.3 + 0 636 c.574C>T c.(574-576)Ctc>Ttc p.L192F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA. 192 15 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 CTCCGTGTCCCTCCTCTGCCA 0.682000 102 87 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85742573 85742573 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:85742573A>G uc003hpd.3 - 10 1663 c.1255T>C c.(1255-1257)Ttc>Ctc p.F419L WDFY3_uc003hpf.3_Missense_Mutation_p.F419L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 419 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCTAGGATGAAGTAATTGGCA 0.373000 69 23 0 0 1 0 0 TXNRD2 10587 broad.mit.edu 37 22 19865664 19865664 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:19865664A>C uc021wlj.1 - 15 1427 c.1394T>G c.(1393-1395)tTc>tGc p.F465C TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.F464C|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Missense_Mutation_p.F115C NM_006440 Q9NNW7 TRXR2_HUMAN Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA. 465 cell redox homeostasis|response to oxygen radical mitochondrion NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) GGGGCCAAGGAAATGCAGGCC 0.612000 22 11 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74976483 74976483 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:74976483G>A uc001xqa.3 - 20 3618 c.3231C>T c.(3229-3231)gcC>gcT p.A1077A NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1077 Cys-rich.|EGF-like 9; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CGTTCTCACAGGCAGAGCAGG 0.582000 18 31 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6245613 6245613 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:6245613G>A uc001mck.4 - 1 493 c.134C>T c.(133-135)tCc>tTc p.S45F FAM160A2_uc001mcl.4_Missense_Mutation_p.S45F|FAM160A2_uc001mcm.2_Missense_Mutation_p.S45F NM_032127 NP_115503 Q8N612 F16A2_HUMAN Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA. 45 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCTACCTGGGACCAGTGATT 0.527000 58 16 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767331 41767331 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:41767331G>A uc001uxw.1 - 0 1372 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S AK056182_uc001uxv.1_Intron NM_032138 NP_115514 Q8WVZ9 KBTB7_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA. 355 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) CAGAGAAAGGGATCTCTAGGA 0.498000 30 6 0 0 1 0 0 SNORD114-22 767600 broad.mit.edu 37 14 101449268 101449268 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:101449268C>T uc001yjm.3 + 0 c.6C>T Homo sapiens small nucleolar RNA, C/D box 114-22 (SNORD114-22), small nucleolar RNA. CATTCTGGATCGATGATGACT 0.368000 24 31 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903218 5903218 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:5903218C>T uc002wmg.3 + 3 734 c.428C>T c.(427-429)cCc>cTc p.P143L CHGB_uc010zqz.2_Intron NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 143 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGCCTCTATCCCTCCGACAGC 0.572000 5 10 0 0 1 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46054136 46054136 + Missense_Mutation SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:46054136C>G uc010wlc.2 + 8 1041 c.917C>G c.(916-918)tCt>tGt p.S306C CDK5RAP3_uc002imq.1_Missense_Mutation_p.S61C|CDK5RAP3_uc002imr.3_Missense_Mutation_p.S286C|CDK5RAP3_uc002ims.3_Missense_Mutation_p.S199C NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA. 286 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 TCTGGCATCTCTGCCGAGGCT 0.522000 65 17 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10538311 10538311 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10538311G>A uc002gmq.2 - 30 4290 c.4202C>T c.(4201-4203)tCc>tTc p.S1401F NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1401 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 CTGTTCCTCGGAATCTTGAAG 0.433000 15 31 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105669022 105669022 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:105669022C>T uc003vdl.4 + 16 2406 c.2298C>T c.(2296-2298)gtC>gtT p.V766V CDHR3_uc003vdk.3_Missense_Mutation_p.R198C|CDHR3_uc003vdm.4_Silent_p.V753V|CDHR3_uc011klt.2_Silent_p.V678V|CDHR3_uc003vdn.3_Missense_Mutation_p.R267C NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 766 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 AGAGAGACGTCGTGGTGGTGA 0.567000 25 16 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358371 124358371 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:124358371C>T uc001lgk.1 + 25 3144 c.3038C>T c.(3037-3039)tCc>tTc p.S1013F DMBT1_uc001lgl.1_Missense_Mutation_p.S1003F|DMBT1_uc001lgm.1_Missense_Mutation_p.S514F|DMBT1_uc021qaf.1_Missense_Mutation_p.S1013F|DMBT1_uc021qag.1_Missense_Mutation_p.S1003F|DMBT1_uc021qah.1_Missense_Mutation_p.S514F|DMBT1_uc009xzz.1_Missense_Mutation_p.S1013F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1013 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TACCAAGGCTCCTGGGGCACC 0.587000 214 173 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598590 179598590 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179598590C>A uc021vsy.1 - 49 12019 c.11794G>T c.(11794-11796)Gat>Tat p.D3932Y TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D593Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4859 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) GCAATCAAATCATCTACTTTC 0.408000 19 8 3.09899e-07 3.12336e-07 1 1 0 ZFP91 80829 broad.mit.edu 37 11 58379782 58379782 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:58379782C>T uc001nmx.4 + 6 1057 c.889C>T c.(889-891)Cca>Tca p.P297S ZFP91_uc001nmy.4_Missense_Mutation_p.P296S|CNTF_uc010rkm.2_Non-coding_Transcript NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA. 297 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGACAAAAGTCCACGTTTACC 0.393000 19 4 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138678917 138678917 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:138678917C>T uc011mwn.1 - 21 2509 c.2503G>A c.(2503-2505)Gaa>Aaa p.E835K MCF2_uc004fav.3_Missense_Mutation_p.E706K|MCF2_uc004fau.3_Missense_Mutation_p.E690K|MCF2_uc010nsh.2_Missense_Mutation_p.E690K|MCF2_uc011mwm.2_Missense_Mutation_p.E651K|MCF2_uc011mwl.2_Missense_Mutation_p.E667K|MCF2_uc011mwo.1_Missense_Mutation_p.E766K|MCF2_uc004faw.2_Missense_Mutation_p.E750K|Mir_548_uc022cfd.1_5'Flank NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 690 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction Rho guanyl-nucleotide exchange factor activity|protein binding NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTGCCCAGTTCATTTAAGTTT 0.403000 36 23 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166902340 166902341 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:166902340_166902341CC>TT uc003qvd.1 - 11 1075_1076 c.962_963GG>AA c.(961-963)cgg>cAA p.R321Q RPS6KA2_uc011ego.1_Missense_Mutation_p.R207Q|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R207Q|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R296Q|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R304Q NM_021135 NP_066958 Q15349 KS6A2_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA. 296 AGC-kinase C-terminal. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TGCAGGGGTTCCGTTTGAAGAG 0.584000 14 4 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18801781 18801781 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:18801781G>A uc003sui.3 + 14 2085 c.2044_splice c.e14-1 p.R682_splice HDAC9_uc003sue.3_Splice_Site_p.R679_splice|HDAC9_uc011jyd.2_Splice_Site_p.R679_splice|HDAC9_uc003suh.3_Splice_Site_p.R679_splice|HDAC9_uc003suj.3_Splice_Site_p.R638_splice|HDAC9_uc003sua.1_Splice_Site_p.R657_splice NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 679 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.R682Q(2) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TTCTTGCAGCGAATTCAAGGT 0.438000 18 11 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108672937 108672937 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:108672937G>A uc003kos.4 - 9 2342 c.2122C>T c.(2122-2124)Ccc>Tcc p.P708S JA429135_uc021ycd.1_5'Flank NM_014819 NP_055634 O43164 PJA2_HUMAN Homo sapiens praja ring finger 2 (PJA2), mRNA. 708 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) AAGGTTTAGGGTGCTTCTGCA 0.393000 49 10 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73459563 73459563 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:73459563C>T uc003tzw.3 + 9 572 c.481C>T c.(481-483)Ccc>Tcc p.P161S ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.P161S|ELN_uc003tzy.3_Missense_Mutation_p.P156S|ELN_uc003tzz.3_Missense_Mutation_p.P149S|ELN_uc003tzo.3_Missense_Mutation_p.P161S|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P161S|ELN_uc003tzt.3_Missense_Mutation_p.P166S|ELN_uc003tzu.3_Missense_Mutation_p.P166S|ELN_uc003tzv.3_Missense_Mutation_p.P151S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P151S|ELN_uc011kff.2_Missense_Mutation_p.P161S NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 161 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) AGCTCGGTTCCCCGGTGTGGG 0.657000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 88 14 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39184682 39184682 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:39184682G>A uc003cjg.3 - 4 1848 c.1634C>T c.(1633-1635)cCt>cTt p.P545L CSRNP1_uc003cjh.3_Missense_Mutation_p.P545L NM_033027 NP_149016 Q96S65 CSRN1_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA. 545 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 GGCATCCCCAGGTGGAGACAG 0.577000 57 19 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133013537 133013537 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:133013537A>T uc003qdo.3 - 4 1033 c.1013T>A c.(1012-1014)tTt>tAt p.F338Y NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 338 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TTCATCGAAAAAGACAGTGCC 0.423000 15 18 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20792812 20792812 + Silent SNP C T T rs138359943 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:20792812C>T uc001reh.2 + 9 2212 c.2172C>T c.(2170-2172)ctC>ctT p.L724L PDE3A_uc021qwa.1_Silent_p.L402L NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 724 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACATGGGCCTCTTTGAAGCTT 0.338000 41 6 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7254530 7254530 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7254530G>A uc001qsn.3 - 2 547 c.454C>T c.(454-456)Ctc>Ttc p.L152F C1RL_uc009zft.3_Missense_Mutation_p.L152F|C1RL_uc001qso.2_Missense_Mutation_p.L152F NM_016546 NP_057630 Q9NZP8 C1RL_HUMAN Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA. 152 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCCTTGTGGAGGTGGGCAGTC 0.617000 117 45 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65349290 65349290 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:65349290C>T uc003juk.2 + 20 2454 c.2144C>T c.(2143-2145)tCa>tTa p.S715L ERBB2IP_uc011cqx.2_Missense_Mutation_p.S715L|ERBB2IP_uc003jui.2_Missense_Mutation_p.S715L|ERBB2IP_uc003jul.2_Missense_Mutation_p.S711L|ERBB2IP_uc011cqy.2_Missense_Mutation_p.S715L|ERBB2IP_uc003juj.2_Missense_Mutation_p.S715L|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.S711L NM_001253697 NP_001240626 Q96RT1 LAP2_HUMAN Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA. 715 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TTAAACAGTTCAACAGAGGAA 0.269000 57 21 0 0 1 0 0 EIF4A3 9775 broad.mit.edu 37 17 78110071 78110071 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:78110071G>A uc010wuc.2 - 10 1120 c.1047C>T c.(1045-1047)atC>atT p.I349I EIF4A3_uc002jxs.3_Silent_p.I349I NM_014740 NP_055555 P38919 IF4A3_HUMAN Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA. 349 Helicase C-terminal. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding p.L348L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 10 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) CATAGTTAATGATGAGGGACA 0.423000 41 5 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25026467 25026467 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:25026467G>A uc003grf.2 - 3 487 c.388C>T c.(388-390)Cgt>Tgt p.R130C NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 130 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) CGGAGGCCACGAAAGGCATTT 0.378000 33 11 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46124480 46124480 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:46124480G>A uc010xxm.2 - 13 1783 c.1710C>T c.(1708-1710)ttC>ttT p.F570F EML2_uc002pcn.3_Silent_p.F369F|EML2_uc002pcp.3_Silent_p.F253F|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.F516F|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.F369F|EML2_uc010ekj.3_Missense_Mutation_p.S336F NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 369 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CCAGCAGTGAGAAGCCTGTGT 0.647000 19 12 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739944 38739944 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:38739944C>T uc003ciq.3 - 26 4767 c.4767G>A c.(4765-4767)gcG>gcA p.A1589A NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1589 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCCCTTGGCCGCTCGGATCA 0.522000 74 29 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53337877 53337877 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:53337877C>T uc002ehb.3 + 29 6123 c.5959C>T c.(5959-5961)Ctt>Ttt p.L1987F CHD9_uc002egy.3_Missense_Mutation_p.L1987F|CHD9_uc002ehc.3_Missense_Mutation_p.L1987F|CHD9_uc002ehf.3_Missense_Mutation_p.L1101F|CHD9_uc002ehg.2_Missense_Mutation_p.L1101F|CHD9_uc010cbw.3_Intron NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 1987 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CTATCACATTCTTCGTGATCC 0.458000 23 29 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55220290 55220290 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:55220290C>T uc003tqk.3 + 5 926 c.680C>T c.(679-681)tCc>tTc p.S227F EGFR_uc003tqh.3_Missense_Mutation_p.S227F|EGFR_uc003tqi.3_Missense_Mutation_p.S227F|EGFR_uc003tqj.3_Missense_Mutation_p.S227F|EGFR_uc022adm.1_Missense_Mutation_p.S227F|EGFR_uc010kzg.2_Missense_Mutation_p.S182F|EGFR_uc022adn.1_Missense_Mutation_p.S182F|EGFR_uc011kco.2_Missense_Mutation_p.S174F|EGFR_uc003tql.1_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 227 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGTGGCAAGTCCCCCAGTGAC 0.612000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 134 83 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514170 157514170 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:157514170G>A uc009wsm.3 - 4 884 c.726C>T c.(724-726)tcC>tcT p.S242S FCRL5_uc001fqu.3_Silent_p.S242S|FCRL5_uc010phv.1_Silent_p.S242S|FCRL5_uc010phw.1_Silent_p.S157S|FCRL5_uc001fqv.1_Silent_p.S242S|FCRL5_uc010phx.2_5'UTR NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 242 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGAAATTCGGGGAGAGACTCC 0.522000 118 39 0 0 1 0 0 SLC35B3 51000 broad.mit.edu 37 6 8430148 8430148 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:8430148G>A uc011did.2 - 2 623 c.246C>T c.(244-246)ttC>ttT p.F82F SLC35B3_uc003myc.3_Non-coding_Transcript|SLC35B3_uc003myd.3_Non-coding_Transcript|SLC35B3_uc010joe.3_Silent_p.F82F|SLC35B3_uc003myb.3_Silent_p.F82F|SLC35B3_uc010jof.2_Silent_p.F50F|SLC35B3_uc011die.1_Silent_p.F82F NM_001142540 NP_057032 Q9H1N7 S35B3_HUMAN Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA. 82 transmembrane transport Golgi membrane|integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) CAACACATATGAAAAACTGAG 0.318000 21 5 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3529890 3529891 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:3529890_3529891CC>TT uc002wim.2 + 5 1107_1108 c.1017_1018CC>TT c.(1015-1020)ctcccc>ctTTcc p.P340S ATRN_uc002wil.2_Missense_Mutation_p.P340S|ATRN_uc021vzz.1_Missense_Mutation_p.P224S NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 340 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTTAAAGCTCCCCAGAGCATC 0.391000 52 18 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151827063 151827063 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:151827063C>T uc010ipj.3 - 12 1926 c.1682G>A c.(1681-1683)gGg>gAg p.G561E LRBA_uc003ilu.4_Missense_Mutation_p.G561E|LRBA_uc010ipk.1_Missense_Mutation_p.G480E NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 561 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CAGGGGCATCCCATTCTGCAG 0.373000 39 11 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306787 54306787 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:54306787G>A uc021smr.1 + 0 1687 c.1687G>A c.(1687-1689)Gat>Aat p.D563N UNC13C_uc021sms.1_Missense_Mutation_p.D563N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 563 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTACTCAGAAGATTTTTCAGA 0.423000 12 7 0 0 1 0 0 LYZL1 84569 broad.mit.edu 37 10 29578145 29578145 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:29578145G>A uc001iul.3 + 0 156 c.99G>A c.(97-99)agG>agA p.R33R NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN Homo sapiens lysozyme-like 1 (LYZL1), mRNA. 0 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) CAGGCACCAGGAATCTGCCTT 0.507000 8 5 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121976306 121976306 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:121976306C>T uc004bkc.2 - 5 1269 c.813G>A c.(811-813)gaG>gaA p.E271E DBC1_uc004bkd.2_Silent_p.E271E NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 271 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCGGAAACTCCTCGGCACATT 0.557000 52 20 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878443 5878443 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5878443G>A uc010qzr.2 - 0 490 c.490C>T c.(490-492)Cca>Tca p.P164S TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA. 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACACCAGTGGAACAACCATG 0.522000 85 26 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317614 103317614 + Nonsense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:103317614A>T uc002tca.3 + 7 1814 c.1672A>T c.(1672-1674)Aag>Tag p.K558* NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 558 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTTATATAAAAAGCTTGAAAT 0.328000 18 6 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145415566 145415566 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:145415566C>T uc001eni.2 + 2 710 c.385C>T c.(385-387)Ccg>Tcg p.P129S HFE2_uc001enk.2_Missense_Mutation_p.P16S|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 129 Poly-Pro. axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGCCCCTcccccgccccgggg 0.706000 18 19 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134328036 134328036 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:134328036C>T uc003qem.1 - 2 1652 c.1481G>A c.(1480-1482)gGg>gAg p.G494E NM_145176 NP_660159 Q8TD20 GTR12_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA. 494 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TCCTCTGATCCCACCAGGAAA 0.488000 11 13 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044133 75044133 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:75044133C>T uc002ayr.1 + 3 1044 c.980C>T c.(979-981)tCc>tTc p.S327F NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 327 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) ACAGCCATCTCCTGGAGCCTC 0.512000 76 64 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29407902 29407902 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:29407902C>T uc011dlp.2 + 0 187 c.110C>T c.(109-111)aCc>aTc p.T37I OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TACCTGCTGACCGTGGCAGGC 0.552000 65 47 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40775636 40775636 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:40775636C>T uc001cfh.1 - 15 932 c.820G>A c.(820-822)Ggc>Agc p.G274S COL9A2_uc001cfi.1_Missense_Mutation_p.G93S NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 274 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCAGCTCGGCCTGGCGGTCCC 0.627000 105 22 0 0 1 0 0 C15orf32 145858 broad.mit.edu 37 15 93015564 93015564 + Silent SNP C T T rs150605439 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:93015564C>T uc002brc.1 + 0 658 c.186C>T c.(184-186)gcC>gcT p.A62A C15orf32_uc010bod.1_Non-coding_Transcript NM_153040 NP_694585 Q32M92 CO032_HUMAN Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA. 62 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) CTATACTAGCCCTTGTTGGGG 0.473000 129 26 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128491562 128491562 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:128491562G>A uc003vnz.4 + 34 5931 c.5722G>A c.(5722-5724)Gac>Aac p.D1908N FLNC_uc003voa.4_Missense_Mutation_p.D1875N NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1908 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CACCTGTAAGGACAACAAGGA 0.612000 66 13 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107225087 107225088 + Missense_Mutation DNP GC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:107225087_107225088GC>TT uc004enn.1 - 1 363_364 c.270_271GC>AA c.(268-273)gtgcag>gtAAag p.Q91K NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN Homo sapiens testis expressed 13B (TEX13B), mRNA. 91 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 TGCAGCCACTGCACCCTGCGGT 0.599000 30 47 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 825539 825539 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:825539C>T uc002cjz.1 - 4 1222 c.1222G>A c.(1222-1224)Gag>Aag p.E408K NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 115 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 ACTCTGGACTCGCCGTGGCAG 0.697000 10 18 0 0 1 0 0 RSPO4 343637 broad.mit.edu 37 20 948621 948621 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:948621G>A uc002wej.3 - 1 340 c.240C>T c.(238-240)atC>atT p.I80I RSPO4_uc002wek.3_Silent_p.I80I NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. 80 Wnt receptor signaling pathway extracellular region heparin binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CCTGGCCGCGGATGCCGAAGT 0.597000 35 36 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246810663 246810663 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:246810663C>T uc001ibp.3 + 8 1538 c.1160C>T c.(1159-1161)cCa>cTa p.P387L CNST_uc001ibo.4_Missense_Mutation_p.P387L NM_152609 NP_689822 Q6PJW8 CNST_HUMAN Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA. 387 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 CCGTCTGGGCCAGACTCTTCT 0.592000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 76 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21546549 21546549 + Missense_Mutation SNP G A A rs142918103 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:21546549G>A uc001bek.2 - 18 2287 c.2212C>T c.(2212-2214)Cgg>Tgg p.R738W ECE1_uc001bem.2_Missense_Mutation_p.R722W|ECE1_uc001bej.2_Missense_Mutation_p.R726W|ECE1_uc001bei.2_Missense_Mutation_p.R735W|ECE1_uc010odl.1_Missense_Mutation_p.R706W NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 738 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CCGATGACCCGGAAGCGAGAG 0.612000 51 8 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6378889 6378889 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:6378889G>C uc003wqj.4 - 3 938 c.609C>G c.(607-609)atC>atG p.I203M MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.I203M|ANGPT2_uc010lri.3_Missense_Mutation_p.I151M|ANGPT2_uc003wql.4_Missense_Mutation_p.I203M NM_001147 NP_001138 O15123 ANGP2_HUMAN Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA. 203 Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GTAGTTGGATGATGTGCTTGT 0.323000 33 12 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133498099 133498099 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:133498099C>T uc004bzr.1 + 9 884 c.776C>T c.(775-777)tCt>tTt p.S259F FUBP3_uc010mzd.1_Missense_Mutation_p.S199F NM_003934 NP_003925 Q96I24 FUBP3_HUMAN Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA. 259 KH 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) GCCTAGGTATCTGTGCCTAGG 0.408000 36 33 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69358572 69358572 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:69358572G>A uc010lyz.3 + 2 775 c.484G>A c.(484-486)Gga>Aga p.G162R C8orf34_uc010lyx.2_Missense_Mutation_p.G162R|C8orf34_uc010lyy.2_Missense_Mutation_p.G162R|C8orf34_uc003xyb.3_Missense_Mutation_p.G51R NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 76 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGAATCCAAAGGAACAAGAAG 0.318000 44 10 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91690648 91690648 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:91690648C>T uc003ulg.3 + 22 5901 c.5676C>T c.(5674-5676)tcC>tcT p.S1892S AKAP9_uc003ulf.3_Silent_p.S1892S|AKAP9_uc003uli.3_Silent_p.S1515S NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1904 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding p.L1905fs*3(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAACAGAGTCCCTTAAGTGCC 0.473000 T BRAF papillary thyroid 39 19 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140811165 140811165 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140811165C>T uc003lkt.2 + 0 1008 c.839C>T c.(838-840)tCc>tTc p.S280F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.S280F NM_003735 NP_003726 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. 280 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGGTATTCCTTCCGGTAT 0.532000 51 14 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117634561 117634561 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:117634561T>G uc001egy.3 + 16 2814 c.2794T>G c.(2794-2796)Tta>Gta p.L932V MIR942_uc021osm.1_5'Flank NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 932 RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TCATCTTTCTTTACTGAAGTC 0.532000 63 17 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85965660 85965660 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:85965660G>A uc001kcv.3 + 9 1045 c.940G>A c.(940-942)Gag>Aag p.E314K CDHR1_uc001kcw.3_Missense_Mutation_p.E314K|CDHR1_uc009xst.3_Missense_Mutation_p.E73K NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA. 314 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GCTCCAGAGAGAGGTGTATGA 0.542000 OREG0020333 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 5 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118623790 118623790 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:118623790G>A uc001ehk.2 - 14 2211 c.2143C>T c.(2143-2145)Cct>Tct p.P715S SPAG17_uc021oss.1_Missense_Mutation_p.P36S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 715 cilium|flagellar axoneme|microtubule p.P715A(2) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTATTATCAGGGACTGAGAGT 0.433000 51 53 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 401555 401555 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:401555C>T uc003msz.4 + 6 1003 c.877C>T c.(877-879)Ccc>Tcc p.P293S IRF4_uc010jne.2_Missense_Mutation_p.P293S|IRF4_uc003mtb.4_Missense_Mutation_p.P292S|IRF4_uc021ykl.1_Missense_Mutation_p.P139S|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.P123S NM_002460 NP_002451 Q15306 IRF4_HUMAN Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA. 293 T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGTCCTGTTCCCCTACCCAGA 0.612000 T IGH@ MM 48 8 0 0 1 0 0 CBLN3 643866 broad.mit.edu 37 14 24897527 24897527 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:24897527G>A uc001wpg.4 - 1 856 c.385C>T c.(385-387)Cat>Tat p.H129Y KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN Homo sapiens cerebellin 3 precursor (CBLN3), mRNA. 129 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) TTCACCACATGGAACCGGAAG 0.652000 101 43 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42150040 42150040 + Silent SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:42150040T>G uc003baz.1 + 16 1966 c.1941T>G c.(1939-1941)ccT>ccG p.P647P bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.P15P|MEI1_uc003bbc.1_Silent_p.P15P|MEI1_uc010gym.1_Silent_p.P15P NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN Homo sapiens meiosis inhibitor 1 (MEI1), mRNA. 647 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGGACCACCTTCCAAAGAAG 0.468000 54 16 0 0 1 0 0 CPEB2 132864 broad.mit.edu 37 4 15067977 15067977 + Silent SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:15067977A>T uc003gnk.2 + 11 3078 c.3078A>T c.(3076-3078)ccA>ccT p.P1026P CPEB2_uc003gnl.2_Silent_p.P999P|CPEB2_uc003gnm.2_Silent_p.P996P|CPEB2_uc003gni.2_Silent_p.P1018P|CPEB2_uc003gnn.2_Silent_p.P991P|CPEB2_uc003gnj.2_Silent_p.P988P NM_001177382 NP_001170853 Q7Z5Q1 CPEB2_HUMAN Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA. 581 regulation of translation cytoplasm RNA binding|nucleotide binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3) 14 CTGATCGCCCACGTCAGATCC 0.473000 6 8 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9406944 9406944 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9406944G>A uc002mlc.1 - 4 1136 c.1136C>T c.(1135-1137)aCt>aTt p.T379I NM_198535 NP_940937 Q32M78 ZN699_HUMAN Homo sapiens zinc finger protein 699 (ZNF699), mRNA. 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCCATGTACAGTGAGTTTTGA 0.413000 24 14 0 0 1 0 0 NACAP1 83955 broad.mit.edu 37 8 102381832 102381832 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:102381832G>A uc010mbs.1 + 2 c.1244G>A Homo sapiens cDNA FLJ76356 complete cds, highly similar to Homo sapiens nascent-polypeptide-associated complex alpha polypeptide pseudogene 1, mRNA. AGCTTGGTTTGAAATTTGTAC 0.303000 41 6 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125521553 125521553 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:125521553C>T uc001lhk.1 - 10 1937 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 538 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGGGTGTGTTCCTGCGTCTTC 0.652000 83 25 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186283764 186283764 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:186283764G>A uc003ixh.3 + 18 2531 c.2342_splice c.e18-1 p.D781_splice SNX25_uc010ish.3_Splice_Site_p.D497_splice|SNX25_uc003ixi.3_Splice_Site_p.D285_splice NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN Homo sapiens sorting nexin 25 (SNX25), mRNA. 781 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TAATTTTTCAGATATGCTTCA 0.368000 170 5 0 0 1 0 0 GTF2A2 2958 broad.mit.edu 37 15 59934455 59934455 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:59934455G>A uc002agg.3 - 3 366 c.184C>T c.(184-186)Cta>Tta p.L62L NM_004492 NP_004483 P52657 T2AG_HUMAN Homo sapiens general transcription factor IIA, 2, 12kDa (GTF2A2), mRNA. 62 RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIIA complex TBP-class protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity central_nervous_system(2)|kidney(2)|lung(1) 5 TACGTATTTAGAGAGCCCTTT 0.338000 51 17 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92977603 92977603 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:92977603C>T uc002bra.3 + 2 443 c.288C>T c.(286-288)atC>atT p.I96I ST8SIA2_uc002brb.3_Silent_p.I75I NM_006011 NP_006002 Q92186 SIA8B_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA. 96 N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.R95M(1)|p.I96N(1) endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CTCTGAGGATCAGGTACTGGT 0.453000 114 31 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60921246 60921246 + Silent SNP C T T rs141164486 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:60921246C>T uc002ycq.3 - 9 1375 c.1308G>A c.(1306-1308)acG>acA p.T436T LAMA5_uc021wfw.1_Silent_p.T436T NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 436 Laminin EGF-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGTGCCATCCGTGAAGTCGG 0.647000 2 9 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369770 139369771 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:139369770_139369771GG>AA uc004chx.3 - 2 2606_2607 c.2297_2298CC>TT c.(2296-2298)tcc>tTT p.S766F SEC16A_uc004chv.4_Missense_Mutation_p.S393F|SEC16A_uc004chw.3_Missense_Mutation_p.S766F|SEC16A_uc010nbn.3_Missense_Mutation_p.S766F|SEC16A_uc010nbo.1_Missense_Mutation_p.S766F NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 588 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACTGCTGCCCGGACATCGCCTC 0.599000 21 13 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129869120 129869120 + Silent SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:129869120T>C uc009yat.3 + 15 1792 c.1375T>C c.(1375-1377)Ttg>Ctg p.L459L PTPRE_uc001lkb.3_Silent_p.L448L|PTPRE_uc009yau.2_Silent_p.L448L|PTPRE_uc001lkd.3_Silent_p.L390L|PTPRE_uc010quq.1_Silent_p.L349L NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 448 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GACGGGCAACTTGCCGGCAAA 0.562000 26 3 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121206691 121206691 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:121206691G>A uc003eee.4 - 15 5216 c.5087C>T c.(5086-5088)tCt>tTt p.S1696F POLQ_uc003eed.3_Missense_Mutation_p.S868F NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1696 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ATTATTAGAAGAAAATGAAAT 0.303000 DNA polymerases (catalytic subunits) 39 11 0 0 1 0 0 CLYBL 171425 broad.mit.edu 37 13 100523245 100523245 + Missense_Mutation SNP C T T rs147230521 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:100523245C>T uc001vok.3 + 6 887 c.856C>T c.(856-858)Cct>Tct p.P286S CLYBL_uc010tiy.2_Missense_Mutation_p.P252S NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN Homo sapiens citrate lyase beta like (CLYBL), mRNA. 286 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCAGTTTTCTCCTTCCCCTGA 0.408000 12 24 0 0 1 0 0 XRCC4 7518 broad.mit.edu 37 5 82406865 82406865 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:82406865C>T uc003kib.3 + 2 286 c.158C>T c.(157-159)tCc>tTc p.S53F XRCC4_uc003kia.1_Missense_Mutation_p.S53F|XRCC4_uc003kic.3_Missense_Mutation_p.S53F|XRCC4_uc003kid.3_Missense_Mutation_p.S53F|XRCC4_uc003kie.3_Missense_Mutation_p.S53F NM_022406 NP_071801 Q13426 XRCC4_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA. 53 DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm DNA binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3) 17 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) TCAGAGATTTCCCAAGAAGCT 0.338000 Non-homologous end-joining 12 5 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73377025 73377025 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:73377025C>T uc001jrx.4 + 10 1399 c.1009C>T c.(1009-1011)Ctg>Ttg p.L337L CDH23_uc001jrw.4_Silent_p.L337L|CDH23_uc001jry.3_Silent_p.L337L|CDH23_uc001jrz.3_Silent_p.L337L|CDH23_uc021psl.1_Silent_p.L337L|CDH23_uc009xql.3_Silent_p.L337L NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 337 Cadherin 3. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTTCAATATCCTGGTTATTGA 0.557000 27 5 0 0 1 0 0 C17orf64 124773 broad.mit.edu 37 17 58504103 58504103 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:58504103C>T uc002iyq.3 + 3 443 c.354C>T c.(352-354)ctC>ctT p.L118L NM_181707 NP_859058 Q86WR6 CQ064_HUMAN Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA. 118 breast(2)|large_intestine(1)|lung(3) 6 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01) TCATCTCCCTCTTCTCGGAGC 0.602000 22 5 0 0 1 0 0 TFIP11 24144 broad.mit.edu 37 22 26895328 26895328 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:26895328C>T uc003acr.2 - 7 1445 c.1071G>A c.(1069-1071)gaG>gaA p.E357E TFIP11_uc003acs.2_Silent_p.E357E|TFIP11_uc003act.2_Silent_p.E357E NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA. 357 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 CGGTCATCTTCTCCAGCTCGT 0.602000 33 48 0 0 1 0 0 KRT86 3892 broad.mit.edu 37 12 52699979 52699979 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:52699979G>A uc010snq.2 + 7 1295 c.1162G>A c.(1162-1164)Gag>Aag p.E388K KRT86_uc009zmg.3_Missense_Mutation_p.E388K|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.E388K NM_002284 NP_002275 O43790 KRT86_HUMAN Homo sapiens keratin 86 (KRT86), mRNA. 388 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGATCAGGGAGTACCAGGA 0.652000 OREG0021845 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 23 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963314 73963314 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:73963314C>T uc004eby.3 - 2 1695 c.1078G>A c.(1078-1080)Gat>Aat p.D360N NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 360 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TGGGAAAAATCACTGCTCTGC 0.473000 11 26 0 0 1 0 0 ODZ3 55714 broad.mit.edu 37 4 183664489 183664489 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:183664489C>T uc003ivd.1 + 17 3621 c.3546C>T c.(3544-3546)atC>atT p.I1182I ODZ3_uc003ive.1_Silent_p.I588I NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1182 signal transduction integral to membrane p.G1181V(2) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTTGTGGGATCGATGGCAGTC 0.498000 37 6 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107332146 107332146 + Missense_Mutation SNP G A A rs150858980 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:107332146G>A uc011lvo.2 + 0 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G233E(2) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCCACTGAAGGAAAACATAAG 0.418000 42 13 0 0 1 0 0 CACNG5 27091 broad.mit.edu 37 17 64873523 64873523 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:64873523G>A uc010wqi.2 + 1 310 c.73G>A c.(73-75)Ggt>Agt p.G25S CACNG5_uc010wqj.2_Missense_Mutation_p.G25S NM_145811 NP_665810 Q9UF02 CCG5_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA. 25 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GGGCCTCCTGGGTATCGCGGT 0.597000 88 31 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123332963 123332963 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:123332963C>T uc003ego.3 - 33 6016 c.5734G>A c.(5734-5736)Gaa>Aaa p.E1912K MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Missense_Mutation_p.E152K|MYLK_uc003egm.3_Missense_Mutation_p.E151K|MYLK_uc010hrr.3_Missense_Mutation_p.E347K|MYLK_uc011bjv.2_Missense_Mutation_p.E712K|MYLK_uc011bjw.2_Missense_Mutation_p.E1911K|MYLK_uc003egp.3_Missense_Mutation_p.E1843K|MYLK_uc003egq.3_Missense_Mutation_p.E1861K|MYLK_uc003egr.3_Missense_Mutation_p.E1792K|MYLK_uc003egs.3_Missense_Mutation_p.E1736K NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1912 Poly-Glu. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CACTCTTCTTCCTCTTCCCCT 0.408000 141 44 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603144 111603144 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:111603144C>T uc010hqa.3 + 1 631 c.220C>T c.(220-222)Cct>Tct p.P74S PHLDB2_uc003dyc.3_Missense_Mutation_p.P101S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P74S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P74S|PHLDB2_uc003dye.4_Missense_Mutation_p.P74S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P74S NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 74 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AAGCCCTTCTCCTTTGGGAAC 0.443000 142 44 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106994006 106994006 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:106994006C>T uc021ser.1 - 233 c.9248G>A Parts of antibodies, mostly variable regions. GGACCCAGTTCATGCTATAGC 0.557000 49 89 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78082361 78082361 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:78082361C>T uc002jxp.3 + 6 1516 c.1149C>T c.(1147-1149)atC>atT p.I383I GAA_uc002jxo.3_Silent_p.I383I|GAA_uc002jxq.3_Silent_p.I383I NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 383 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CCACCGCTATCACCCGCCAGG 0.667000 20 14 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48468176 48468176 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:48468176G>A uc001rqx.3 - 7 1317 c.871C>T c.(871-873)Cat>Tat p.H291Y SENP1_uc001rqw.3_Missense_Mutation_p.H291Y|SENP1_uc001rqy.3_Missense_Mutation_p.H92Y|SENP1_uc001rqz.3_Missense_Mutation_p.H92Y|SENP1_uc009zkx.3_Missense_Mutation_p.H291Y NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA. 291 His-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus SUMO-specific protease activity|endopeptidase activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TGATGGGGATGATGAAGAGTA 0.388000 86 17 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52100487 52100487 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:52100487C>T uc001ryw.3 + 10 1801 c.1623C>T c.(1621-1623)tcC>tcT p.S541S SCN8A_uc010snl.2_Silent_p.S541S|SCN8A_uc001ryx.1_Silent_p.S406S|SCN8A_uc001ryz.1_Silent_p.S406S|SCN8A_uc001ryy.2_Silent_p.S406S NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 541 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) GGAAATTTTCCATCATGAATC 0.358000 8 6 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100388730 100388730 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100388730C>T uc003uwj.3 + 40 7686 c.7521C>T c.(7519-7521)ttC>ttT p.F2507F ZAN_uc003uwk.3_Silent_p.F2507F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 2508 VWFD 4. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCCTGCGCTTCCCCAGGTGCA 0.607000 16 4 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31541065 31541065 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:31541065C>T uc011dnu.1 + 3 426 c.213C>T c.(211-213)ccC>ccT p.P71P LTA_uc003nue.1_Silent_p.P71P|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Silent_p.P18P|LTA_uc003nug.3_Silent_p.P18P|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank NM_001159740 NP_001153212 P01374 TNFB_HUMAN Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA. 71 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) TAGGAGACCCCAGCAAGCAGA 0.562000 34 23 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234436094 234436094 + Nonsense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:234436094T>A uc010zmr.2 - 11 1717 c.1717A>T c.(1717-1719)Aaa>Taa p.K573* USP40_uc010zmt.1_Nonsense_Mutation_p.K217* NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 561 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GTTTTTCTTTTATCAAAGGTC 0.438000 21 12 0 0 1 0 0 CCBP2 1238 broad.mit.edu 37 3 42906179 42906179 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:42906179G>A uc003cme.3 + 2 363 c.185G>A c.(184-186)aGc>aAc p.S62N CCBP2_uc003cmf.3_Missense_Mutation_p.S62N|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.S62N NM_001296 NP_001287 O00590 CCBP2_HUMAN Homo sapiens chemokine binding protein 2 (CCBP2), mRNA. 62 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.241) TTGGGCCTCAGCGGGAACCTC 0.517000 51 63 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8038002 8038002 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:8038002G>A uc003gko.3 - 9 1064 c.921C>T c.(919-921)atC>atT p.I307I ABLIM2_uc003gkl.3_Silent_p.I57I|ABLIM2_uc003gkm.4_Silent_p.I307I|ABLIM2_uc003gkp.3_Silent_p.I307I|ABLIM2_uc003gkq.3_Silent_p.I307I|ABLIM2_uc003gkr.3_Silent_p.I307I|ABLIM2_uc003gkj.4_Silent_p.I307I|ABLIM2_uc003gks.3_Silent_p.I307I|ABLIM2_uc011bwl.1_Silent_p.I312I NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 307 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TGTAGTCCAGGATCTCACCAC 0.572000 32 10 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142264914 142264914 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:142264914G>A uc011dbj.2 + 4 471 c.436G>A c.(436-438)Gaa>Aaa p.E146K ARHGAP26_uc003lmt.3_Missense_Mutation_p.E146K|ARHGAP26_uc003lmw.3_Missense_Mutation_p.E146K NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 146 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCATCTTAGAAAAACACTT 0.338000 34 12 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59210993 59210993 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:59210993C>T uc001nnx.1 + 0 352 c.352C>T c.(352-354)Ctg>Ttg p.L118L NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA. 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L118L(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GTGCCTCCTCCTGACTGCTAT 0.542000 172 53 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102266332 102266332 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:102266332C>T uc003pqp.4 + 8 1584 c.1291C>T c.(1291-1293)Cgt>Tgt p.R431C GRIK2_uc003pqn.3_Missense_Mutation_p.R431C|GRIK2_uc010kcw.3_Missense_Mutation_p.R431C|GRIK2_uc003pqo.4_Missense_Mutation_p.R431C|GRIK2_uc021zdk.1_Missense_Mutation_p.R431C|GRIK2_uc021zdl.1_Non-coding_Transcript NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 431 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CTTATCCAATCGTTCTTTGAT 0.368000 8 6 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103573050 103573050 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:103573050G>A uc003ykt.2 + 1 799 c.691G>A c.(691-693)Gat>Aat p.D231N NM_024410 NP_077721 Q14990 ODFP1_HUMAN Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA. 231 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) cagcccATATGATCCTTGCAA 0.532000 53 7 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734891 92734891 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92734891G>A uc003umf.3 - 2 790 c.520C>T c.(520-522)Cgt>Tgt p.R174C SAMD9_uc003umg.3_Missense_Mutation_p.R174C|SAMD9_uc022ahg.1_Missense_Mutation_p.R174C NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 174 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AACTTGTAACGATATGGATTA 0.378000 96 37 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20373828 20373828 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:20373828G>A uc002dhc.1 - 9 1537 c.1314C>T c.(1312-1314)tcC>tcT p.S438S NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 438 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TGATAATTGTGGAGTGGTTTT 0.483000 18 19 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66878805 66878805 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:66878805C>T uc002jhq.3 - 29 4103 c.3763G>A c.(3763-3765)Gat>Aat p.D1255N ABCA8_uc002jhp.3_Missense_Mutation_p.D1215N|ABCA8_uc010wqq.2_Missense_Mutation_p.D1250N NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1215 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.G1255S(1)|p.G1255C(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ACATCTTCATCCTCTCCTTCT 0.348000 75 8 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139769 50139769 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:50139769G>A uc002xwd.3 - 1 1231 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NFATC2_uc002xwc.3_Silent_p.S337S|NFATC2_uc010zyv.2_Silent_p.S118S|NFATC2_uc010zyw.2_Silent_p.S118S|NFATC2_uc002xwe.3_Silent_p.S317S|NFATC2_uc010zyx.2_Silent_p.S317S|NFATC2_uc010zyy.2_Silent_p.S118S|NFATC2_uc010zyz.2_Silent_p.S118S NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 337 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGCCGGCCTTGGATGGGGCGG 0.672000 73 23 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 192992935 192992935 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:192992935C>T uc011bsq.2 - 29 3553 c.3553G>A c.(3553-3555)Gga>Aga p.G1185R NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 1185 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ATGTAGAATCCATTTTTGCCA 0.438000 99 26 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21984571 21984571 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:21984571C>T uc003xas.3 - 2 2049 c.1384G>A c.(1384-1386)Gga>Aga p.G462R HR_uc003xat.3_Missense_Mutation_p.G462R NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 462 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) TCATGCTGTCCCGAGTCCACA 0.672000 88 25 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720799 95720799 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:95720799C>T uc009xuj.2 - 0 874 c.355G>A c.(355-357)Gaa>Aaa p.E119K Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA. CTACAGAGTTCAATCAGCGGC 0.488000 33 10 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6042189 6042189 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:6042189G>C uc003spl.3 - 4 519 c.432C>G c.(430-432)atC>atG p.I144M PMS2_uc003spj.3_Missense_Mutation_p.I38M|PMS2_uc003spk.3_Missense_Mutation_p.I9M|PMS2_uc011jwl.2_Missense_Mutation_p.I9M|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.I144M|PMS2_uc010ktf.2_Missense_Mutation_p.I144M NM_000535 NP_000526 P54278 PMS2_HUMAN Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA. 144 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding p.I143I(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GGGTTTTCTGGATAATTTTCC 0.493000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 82 24 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794675 42794675 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:42794675C>T uc002otf.1 + 9 1795 c.1755C>T c.(1753-1755)tcC>tcT p.S585S NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 585 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CGACACCTTCCAAGGCAACCC 0.682000 """Mis, F, S""" oligodendroglioma 70 35 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176409486 176409486 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:176409486G>A uc021yil.1 - 1 298 c.131C>T c.(130-132)tCc>tTc p.S44F UIMC1_uc021yim.1_Missense_Mutation_p.S44F|UIMC1_uc021yin.1_Missense_Mutation_p.S44F|UIMC1_uc003mfd.2_5'UTR|UIMC1_uc021yio.1_Missense_Mutation_p.S44F|UIMC1_uc011dfq.2_Missense_Mutation_p.S44F NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA. 44 Necessary for transcriptional repression. G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex K63-linked polyubiquitin binding|histone binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCACTATCGGATATCACAAT 0.453000 71 22 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47541502 47541502 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:47541502C>T uc002zia.1 + 17 1573 c.1491C>T c.(1489-1491)ccC>ccT p.P497P COL6A2_uc002zhz.1_Silent_p.P497P|COL6A2_uc002zhy.1_Silent_p.P497P NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 497 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ATGCAGGACCCCGTGGAGACT 0.657000 33 5 0 0 1 0 0 ZFP3 124961 broad.mit.edu 37 17 4994885 4994885 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:4994885C>T uc002gaq.3 + 1 211 c.86C>T c.(85-87)cCa>cTa p.P29L ZFP3_uc021tog.1_Missense_Mutation_p.P29L NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA. 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 GAAAAATTTCCAAAAGTGGTT 0.423000 29 11 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35700363 35700363 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:35700363G>A uc003zxt.2 - 48 6839 c.6485C>T c.(6484-6486)tCc>tTc p.S2162F NM_006289 NP_006280 Q9Y490 TLN1_HUMAN Homo sapiens talin 1 (TLN1), mRNA. 2162 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGCTCTGGGGAACAGAAAAC 0.517000 17 14 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364610 5364610 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5364610C>T uc001map.1 - 0 145 c.145G>A c.(145-147)Gaa>Aaa p.E49K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.E49K NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGTGATCTTCCTTAATGAGA 0.498000 26 12 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104786954 104786954 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:104786954G>A uc003vct.3 - 6 927 c.740C>T c.(739-741)cCt>cTt p.P247L SRPK2_uc003vcu.3_Missense_Mutation_p.P247L|SRPK2_uc003vcv.3_Missense_Mutation_p.P258L|SRPK2_uc003vcw.1_Missense_Mutation_p.P247L NM_182691 NP_872633 P78362 SRPK2_HUMAN Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA. 247 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 AGACCCTGAAGGAGGAGGAGC 0.502000 20 8 0 0 1 0 0 KMO 8564 broad.mit.edu 37 1 241728295 241728295 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:241728295G>A uc009xgp.3 + 7 935 c.624G>A c.(622-624)atG>atA p.M208I KMO_uc001hyy.3_Missense_Mutation_p.M248I|KMO_uc009xgo.2_Missense_Mutation_p.M248I NM_003679 NP_003670 O15229 KMO_HUMAN Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA. 208 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity p.M208I(2) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) AGTATGCCATGGAACCTAATT 0.303000 16 20 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50902970 50902970 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:50902970G>A uc003blh.3 - 13 1824 c.1629C>T c.(1627-1629)ccC>ccT p.P543P SBF1_uc011arx.2_Silent_p.P207P|SBF1_uc003bli.2_Silent_p.P544P NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 543 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CACTCATGGGGGGCCCTGAGG 0.677000 83 17 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 822691 822691 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:822691C>T uc002cjz.1 - 11 2416 c.2416G>A c.(2416-2418)Gag>Aag p.E806K NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN Homo sapiens mesothelin-like (MSLNL), mRNA. 455 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CACCGGAGCTCCTGGGGATGG 0.667000 3 5 0 0 1 0 0 UCP3 7352 broad.mit.edu 37 11 73712523 73712523 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:73712523G>A uc001our.3 - 6 1228 c.873C>T c.(871-873)ttC>ttT p.F291F NM_003356 NP_003347 P55916 UCP3_HUMAN Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA. 291 Purine nucleotide binding (By similarity). mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) CATAGGTTACGAACATCACCA 0.478000 20 10 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477558 128477558 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:128477558G>A uc002tpg.2 - 15 2240 c.2041C>T c.(2041-2043)Cct>Tct p.P681S NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 681 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGAGGTCCAGGATGCCTCTGC 0.642000 11 36 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39851782 39851782 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:39851782G>T uc003oow.3 + 14 2029 c.1890G>T c.(1888-1890)caG>caT p.Q630H DAAM2_uc003oox.3_Missense_Mutation_p.Q630H|AX747174_uc003ooz.1_Non-coding_Transcript NM_001201427 NP_001188356 Q86T65 DAAM2_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA. 630 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) ATGACATGCAGGTATTTCGGA 0.493000 17 6 0.00116845 0.0011723 1 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64695306 64695306 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:64695306C>T uc001obz.3 + 2 722 c.429C>T c.(427-429)ccC>ccT p.P143P PPP2R5B_uc001oby.3_Silent_p.P143P NM_006244 NP_006235 Q15173 2A5B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA. 143 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CTCTGCCGCCCAGTGAGAACC 0.522000 35 11 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120980156 120980156 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:120980156C>T uc010rzo.2 + 2 435 c.435C>T c.(433-435)ttC>ttT p.F145F NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 145 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTTGGGTTTTCATTGTGACAT 0.438000 9 8 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846162 47846162 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:47846162G>A uc011dwm.2 - 2 2452 c.2418C>T c.(2416-2418)ttC>ttT p.F806F PTCHD4_uc011dwn.2_Silent_p.F553F NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 806 integral to membrane hedgehog receptor activity AAAACGTTAGGAACACAGGTA 0.433000 57 18 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598271 49598271 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:49598271C>T uc010rhy.2 + 1 862 c.384C>T c.(382-384)gtC>gtT p.V128V LOC440040_uc009ymb.3_Silent_p.V128V Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. CCATTCAGGTCCAGAATTTGC 0.483000 20 7 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84215258 84215258 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:84215258G>A uc002fhn.3 - 8 1288 c.1046C>T c.(1045-1047)cCc>cTc p.P349L TAF1C_uc010vnz.2_Missense_Mutation_p.P17L|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Missense_Mutation_p.P17L|TAF1C_uc002fhm.3_Missense_Mutation_p.P256L|TAF1C_uc010vnx.2_Missense_Mutation_p.P323L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Missense_Mutation_p.P323L NM_005679 NP_001230088 Q15572 TAF1C_HUMAN Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA. 349 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 CAGCTCCCCGGGCAGGTGAGG 0.662000 23 11 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821475 151821475 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:151821475C>T uc004ffp.1 + 8 1650 c.1630C>T c.(1630-1632)Ctt>Ttt p.L544F NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 544 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GAGCGACTGCCTTGCCATTAA 0.527000 11 53 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55331446 55331446 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55331446C>T uc002qhl.4 + 3 697 c.634C>T c.(634-636)Ccc>Tcc p.P212S KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.P212S|KIR3DL2_uc010esf.3_Missense_Mutation_p.P117S|KIR3DL2_uc021vbo.1_Missense_Mutation_p.P212S|KIR3DL2_uc002qhk.4_Missense_Mutation_p.P212S P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 212 cellular defense response|regulation of immune response integral to plasma membrane receptor activity p.P212P(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TCCCAGTGATCCCCTGGACAT 0.527000 62 15 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121298204 121298204 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:121298204C>T uc003yox.3 + 32 4337 c.4072C>T c.(4072-4074)Cac>Tac p.H1358Y COL14A1_uc003yoz.3_Missense_Mutation_p.H323Y NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1358 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGGAAGCTTTCACAAGGTTAG 0.318000 27 19 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39538563 39538564 + Nonsense_Mutation DNP CT TA TA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39538563_39538564CT>TA uc002hwm.3 - 0 73_74 c.61_62AG>TA c.(61-63)aga>TAa p.R21* NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 21 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) AGGTTTGAGTCTCTCCTTCCTC 0.485000 57 6 0 0 1 0 0 LAT 27040 broad.mit.edu 37 16 28997730 28997730 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:28997730C>T uc010vdj.2 + 5 417 c.381C>T c.(379-381)tcC>tcT p.S127S NPIPL1_uc010vct.2_Intron|LAT_uc002dsb.3_Silent_p.S91S|LAT_uc002dsd.3_Silent_p.S91S|LAT_uc002dsc.3_Silent_p.S90S|LAT_uc010vdk.1_Silent_p.S91S|LAT_uc010vdl.1_Silent_p.S90S NM_001014989 NP_001014987 O43561 LAT_HUMAN Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA. 91 Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) TTGGGGGCTCCCACCGGACGC 0.637000 55 42 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100380551 100380551 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:100380551C>T uc001ygr.3 + 14 1656 c.1587C>T c.(1585-1587)gcC>gcT p.A529A EML1_uc010tww.2_Silent_p.A498A|EML1_uc001ygs.3_Silent_p.A510A NM_001008707 NP_001008707 O00423 EMAL1_HUMAN Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA. 510 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GGACAGTGGCCGAGGGGAAAG 0.453000 31 9 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140724476 140724476 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140724476C>T uc003ljm.2 + 0 876 c.876C>T c.(874-876)ttC>ttT p.F292F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.F292F NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 293 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAGATTTTCCATCTTAACT 0.413000 23 10 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15263059 15263059 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:15263059C>T uc001iob.3 - 6 762 c.755_splice c.e6-1 p.G252_splice NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 252 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CAGCCACGTTCCTGTGGAATT 0.498000 34 10 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3150963 3150963 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:3150963C>T uc001igp.3 + 8 1017 c.941C>T c.(940-942)cCt>cTt p.P314L PFKP_uc001igq.3_Missense_Mutation_p.P306L|PFKP_uc009xhr.3_Missense_Mutation_p.P276L|PFKP_uc009xhs.1_Missense_Mutation_p.P98L|PFKP_uc009xht.3_Missense_Mutation_p.P52L NM_002627 NP_002618 Q01813 K6PP_HUMAN Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA. 314 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GGAGGGACCCCTTCGGCATTC 0.582000 45 21 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451539 19451539 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:19451539G>A uc002dgc.4 + 2 928 c.179G>A c.(178-180)aGa>aAa p.R60K TMC5_uc010vaq.2_Missense_Mutation_p.R60K|TMC5_uc002dgb.4_Missense_Mutation_p.R60K|TMC5_uc010var.2_Missense_Mutation_p.R60K NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 60 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTAGCCTCCAGAACACGTCCA 0.483000 36 26 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100720413 100720413 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:100720413C>T uc001thn.3 + 11 1573 c.1523C>T c.(1522-1524)tCa>tTa p.S508L SCYL2_uc009ztw.1_Missense_Mutation_p.S335L|SCYL2_uc001thm.1_Missense_Mutation_p.S508L NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA. 508 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 CGTGTAAATTCATTAGTGTGC 0.303000 36 9 0 0 1 0 0 LCE3A 353142 broad.mit.edu 37 1 152595450 152595450 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152595450C>T uc010pdt.2 - 0 130 c.130G>A c.(130-132)Gag>Aag p.E44K NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN Homo sapiens late cornified envelope 3A (LCE3A), mRNA. 44 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCTGCGCTCGGAGCTGGGC 0.657000 57 21 0 0 1 0 0 SORBS3 10174 broad.mit.edu 37 8 22428684 22428684 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:22428684C>T uc003xbv.3 + 17 2033 c.1693C>T c.(1693-1695)Cgt>Tgt p.R565C SORBS3_uc003xbw.4_Missense_Mutation_p.R223C NM_005775 NP_005766 O60504 VINEX_HUMAN Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA. 565 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GACCTCCCCCCGTCGCACTGG 0.697000 35 9 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146908 70146908 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:70146908G>A uc003hej.3 + 0 692 c.690G>A c.(688-690)aaG>aaA p.K230K UGT2B28_uc010ihr.3_Silent_p.K230K NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 230 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GTGATATGAAGAAGTGGGATC 0.313000 49 15 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728499 51728499 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:51728499C>T uc002pwa.2 + 1 103 c.63C>T c.(61-63)ttC>ttT p.F21F CD33_uc010eos.1_Silent_p.F21F|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 21 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ATCCAAATTTCTGGCTGCAAG 0.602000 31 10 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7755877 7755877 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7755877C>T uc002gix.3 + 9 3276 c.2439C>T c.(2437-2439)atC>atT p.I813I KDM6B_uc002giw.1_Silent_p.I1511I|TMEM88_uc002giy.3_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 1511 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 TCAAATCCATCGTGCCCATGA 0.527000 OREG0024145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 9 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813839 106813839 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:106813839T>A uc003ymd.3 + 7 1552 c.1529T>A c.(1528-1530)gTc>gAc p.V510D ZFPM2_uc011lhs.2_Missense_Mutation_p.V241D NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 510 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ATCACCATGGTCCCTCAAGCT 0.502000 117 5 0 0 1 0 0 PPP3CB 5532 broad.mit.edu 37 10 75239181 75239181 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:75239181C>T uc001juf.3 - 1 315 c.180G>A c.(178-180)gtG>gtA p.V60V PPP3CB_uc001jue.3_Silent_p.V60V|PPP3CB_uc001jug.3_Silent_p.V60V|PPP3CB_uc001juh.2_5'UTR|PPP3CB_uc001jui.2_Silent_p.V60V NM_001142353 NP_001135825 P16298 PP2BB_HUMAN Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA. 60 Catalytic. breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1) 22 Prostate(51;0.0119) GACCTTCTTTCACCAAGTGGT 0.448000 80 24 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039975 31039975 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:31039975C>T uc002nsu.1 + 3 3587 c.3449C>T c.(3448-3450)cCc>cTc p.P1150L ZNF536_uc010edd.1_Missense_Mutation_p.P1150L NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.P1150L(2) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ATCCTGATCCCCGAAACCACG 0.547000 23 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074385 9074385 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9074385G>A uc002mkp.3 - 2 13265 c.13061C>T c.(13060-13062)tCa>tTa p.S4354L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4356 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 ATGAGGGCTTGAGATGGATGT 0.458000 17 4 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27026306 27026306 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:27026306G>A uc003acz.4 + 5 481 c.446G>A c.(445-447)tGg>tAg p.W149* NM_001886 NP_001877 P53673 CRBA4_HUMAN Homo sapiens crystallin, beta A4 (CRYBA4), mRNA. 149 Beta/gamma crystallin 'Greek key' 4. Susceptible to oxidation. camera-type eye development|visual perception soluble fraction structural constituent of eye lens p.W149L(2) large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 TTTTCCAGCTGGGTTTGCTCC 0.512000 28 8 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72922787 72922787 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:72922787A>C uc003tyc.3 - 2 591 c.239T>G c.(238-240)tTt>tGt p.F80C NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA. 80 Mediates the tyrosine-protein kinase activity.|WAC. ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CCAGGCAGGAAACTCCTCCTT 0.363000 50 11 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5545545 5545545 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:5545545C>T uc010jnv.1 + 4 1373 c.1037C>T c.(1036-1038)tCc>tTc p.S346F FARS2_uc003mwr.2_Missense_Mutation_p.S346F NM_006567 NP_006558 O95363 SYFM_HUMAN Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA. 346 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) TTCTGTGTATCCAACATTAAT 0.433000 102 56 0 0 1 0 0 TUSC3 7991 broad.mit.edu 37 8 15605946 15605946 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:15605946C>T uc003wwt.3 + 8 1344 c.1000C>T c.(1000-1002)Cgt>Tgt p.R334C TUSC3_uc003wwu.3_Missense_Mutation_p.R334C|TUSC3_uc022asi.1_Intron NM_006765 NP_006756 Q13454 TUSC3_HUMAN Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA. 334 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.R334H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) TTCAATATTTCGTTCCAAGTA 0.318000 63 24 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59158012 59158012 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:59158012G>A uc010dps.1 + 0 378 c.226G>A c.(226-228)Gac>Aac p.D76N CDH20_uc002lif.2_Missense_Mutation_p.D70N NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 76 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CACTGGGACCGACCCTTTGTA 0.453000 22 37 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869216 22869216 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:22869216C>T uc002zwe.3 - 1 992 c.739G>A c.(739-741)Gag>Aag p.E247K abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E247K NM_080740 NP_542778 P59817 Z280A_HUMAN Homo sapiens zinc finger protein 280A (ZNF280A), mRNA. 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E247A(1) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGGCCAGACTCATTTGCTCTC 0.408000 62 22 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102250018 102250018 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:102250018G>A uc001krc.1 - 20 2814 c.2712C>T c.(2710-2712)ttC>ttT p.F904F SEC31B_uc010qpo.1_Silent_p.F903F|SEC31B_uc001krd.1_Silent_p.F441F|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA. 904 Pro-rich. protein transport|vesicle-mediated transport ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ATGTCCCAGGGAATCCCACCG 0.537000 24 9 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172745154 172745154 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:172745154C>T uc003mco.1 - 3 1915 c.605G>A c.(604-606)gGa>gAa p.G202E STC2_uc003mcn.1_Missense_Mutation_p.G117E NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 202 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCACAGGCTTCCCCAGTTCTG 0.632000 29 10 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46633487 46633487 + Missense_Mutation SNP C T T rs75571325 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:46633487C>T uc009zkj.1 - 2 782 c.97G>A c.(97-99)Gaa>Aaa p.E33K SLC38A1_uc001rpb.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E33K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E33K|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.E33K NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 33 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity p.E33K(2) NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TTTTCTACTTCGGTGAAATCA 0.388000 52 15 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53977980 53977980 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:53977980A>T uc002rxi.4 - 2 514 c.409T>A c.(409-411)Tta>Ata p.L137I GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.L26I|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.L99I|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.L26I|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.L99I NM_001164165 NP_665862 Q2TAI4 Q2TAI4_HUMAN Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA. 134 intracellular signal transduction CCAGCTTCTAAAAGAATCTGT 0.378000 25 9 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18393341 18393341 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:18393341G>A uc003wza.3 - 15 3159 c.3056C>T c.(3055-3057)tCt>tTt p.S1019F PSD3_uc003wyx.4_Missense_Mutation_p.S348F|PSD3_uc003wyy.3_Missense_Mutation_p.S485F|PSD3_uc003wyz.3_Missense_Mutation_p.S320F NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA. 1020 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) AGTGATTGGAGAAGTATCCGG 0.488000 74 11 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677329 149677329 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:149677329C>T uc003lrv.2 - 1 1747 c.1158G>A c.(1156-1158)acG>acA p.T386T NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN Homo sapiens arylsulfatase family, member I (ARSI), mRNA. 386 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGATCTCCGTGCGTGGTG 0.652000 44 31 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2968039 2968039 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:2968039G>A uc001qlf.3 - 8 2340 c.2057C>T c.(2056-2058)tCc>tTc p.S686F LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Missense_Mutation_p.S724F|FOXM1_uc009zea.3_Missense_Mutation_p.S671F|FOXM1_uc009zeb.3_Missense_Mutation_p.S670F|FOXM1_uc001qlg.3_Missense_Mutation_p.S671F NM_021953 NP_068772 Q08050 FOXM1_HUMAN Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA. 686 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) AAAGGGGACGGAGATGAGGTC 0.577000 30 13 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025675 16025675 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:16025675G>A uc002nbu.2 - 9 1182 c.1146C>T c.(1144-1146)acC>acT p.T382T CYP4F11_uc010eab.1_Silent_p.T382T|CYP4F11_uc002nbt.2_Silent_p.T382T NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 382 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TAATGCACATGGTCAGGAAGG 0.567000 59 24 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51768809 51768809 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:51768809C>T uc003pah.1 - 41 7116 c.6840G>A c.(6838-6840)tgG>tgA p.W2280* PKHD1_uc010jzn.1_Nonsense_Mutation_p.W263*|PKHD1_uc003pai.3_Nonsense_Mutation_p.W2280* NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 2280 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAATTGCCTCCCAGGAGATAT 0.338000 39 11 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39880954 39880954 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39880954C>T uc002hxm.1 - 11 2027 c.2015G>A c.(2014-2016)tGa>tAa p.*672* JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.*620*|HAP1_uc002hxo.1_Silent_p.*603*|HAP1_uc002hxp.1_Silent_p.*595* NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 0 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCTCTCTTTTCATCGGCACGA 0.587000 141 33 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7066933 7066933 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7066933C>T uc001qsb.2 + 9 1433 c.1191C>T c.(1189-1191)gtC>gtT p.V397V PTPN6_uc001qsa.1_Silent_p.V399V|PTPN6_uc010sfr.1_Silent_p.V358V|PTPN6_uc009zfl.1_Silent_p.V397V|PTPN6_uc010sfs.1_Silent_p.V385V NM_002831 NP_002822 P29350 PTN6_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA. 397 Tyrosine-protein phosphatase. G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 CCTTACAGGTCTCCCCGCTGG 0.607000 31 13 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196602738 196602738 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:196602738C>T uc002utj.4 - 64 12083 c.11982G>A c.(11980-11982)acG>acA p.T3994T DNAH7_uc002uti.4_Silent_p.T477T NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3994 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 TCACAAAATTCGTGGAATGGC 0.453000 14 21 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156011741 156011741 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:156011741G>A uc001fna.3 - 8 1412 c.1388C>T c.(1387-1389)cCc>cTc p.P463L UBQLN4_uc010pgx.2_Missense_Mutation_p.P443L NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN Homo sapiens ubiquilin 4 (UBQLN4), mRNA. 463 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) CATGGCTCGGGGATTGGTAAG 0.577000 39 26 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167719447 167719447 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:167719447G>A uc003qvq.3 + 5 1060 c.885G>A c.(883-885)gtG>gtA p.V295V UNC93A_uc003qvr.3_Silent_p.V253V NM_018974 NP_061847 Q86WB7 UN93A_HUMAN Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA. 295 V -> M (in dbSNP:rs4708771). integral to membrane|plasma membrane p.Y294Y(1) 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) TCGGCTACGTGATGATCTGCT 0.612000 65 58 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107689770 107689770 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:107689770C>T uc010ljo.1 - 27 4206 c.4122_splice c.e27+1 p.K1374_splice LAMB4_uc003vey.2_Splice_Site_p.K1374_splice|LAMB4_uc010ljp.1_Splice_Site_p.K343_splice NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 1374 Domain II. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TGAATATTTACCTTTTCATTC 0.299000 20 12 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48736523 48736523 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:48736523G>A uc003xqi.3 - 64 8872 c.8815C>T c.(8815-8817)Cgt>Tgt p.R2939C PRKDC_uc003xqj.3_Missense_Mutation_p.R2939C NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 2940 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.R2940C(1) 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) AAAATCCCACGGAGGACGTCG 0.363000 Non-homologous end-joining 39 9 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190975 42190975 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:42190975C>T uc002ori.1 - 1 244 c.242G>A c.(241-243)gGa>gAa p.G81E CEACAM7_uc010ehx.2_Missense_Mutation_p.G81E|CEACAM7_uc010ehy.1_Missense_Mutation_p.G81E NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 81 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TTTTACATATCCTATAATTCG 0.463000 55 34 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377854 77377854 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:77377854T>C uc004ajl.1 - 25 3971 c.3733A>G c.(3733-3735)Act>Gct p.T1245A TRPM6_uc004ajk.1_Missense_Mutation_p.T1240A|TRPM6_uc022bib.1_Missense_Mutation_p.T1240A|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.T201A NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 1245 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTTTTGCAAGTAGAATGCTTT 0.483000 27 29 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190195350 190195350 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:190195350C>T uc001gse.1 - 5 1055 c.823G>A c.(823-825)Gaa>Aaa p.E275K FAM5C_uc010pot.1_Missense_Mutation_p.E173K NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 275 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAGTCATTTTCCTTGCAGATA 0.448000 35 20 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117104348 117104348 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:117104348G>A uc004biq.3 - 18 3950 c.3815C>T c.(3814-3816)cCc>cTc p.P1272L AKNA_uc004bin.3_Missense_Mutation_p.P519L|AKNA_uc004bio.3_Missense_Mutation_p.P732L|AKNA_uc004bip.3_Missense_Mutation_p.P1191L|AKNA_uc004bir.3_Missense_Mutation_p.P1272L|AKNA_uc004bis.3_Missense_Mutation_p.P1272L|AKNA_uc010mve.2_Missense_Mutation_p.P1153L NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 1272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 ACCACACAGGGGACACTGAAG 0.562000 24 9 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111845647 111845647 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:111845647G>A uc001pml.3 + 4 893 c.596G>A c.(595-597)cGg>cAg p.R199Q DIXDC1_uc001pmj.3_Missense_Mutation_p.R192Q|DIXDC1_uc001pmk.3_Missense_Mutation_p.R199Q|DIXDC1_uc001pmm.3_5'Flank NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA. 199 Actin-binding. Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TGGAGTGTGCGGGCCCTAGTG 0.517000 6 9 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502406 20502406 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:20502406G>A uc010tkz.2 - 0 512 c.512C>T c.(511-513)cCc>cTc p.P171L NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TATAACATTGGGACCACAGAA 0.483000 23 25 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 136974685 136974685 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:136974685G>A uc010jek.3 - 9 1620 c.1176C>T c.(1174-1176)ctC>ctT p.L392L KLHL3_uc011cyc.2_Silent_p.L161L|KLHL3_uc003lbr.4_Silent_p.L310L|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Silent_p.L161L|KLHL3_uc010jem.1_Silent_p.L352L NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA. 392 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GCAAGTCATTGAGCACCGCTG 0.597000 19 4 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55250661 55250661 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:55250661G>A uc003jqq.3 - 10 1740 c.1427C>T c.(1426-1428)aCc>aTc p.T476I IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.T187I|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Intron NM_002184 NP_002175 P40189 IL6RB_HUMAN Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA. 476 Fibronectin type-III 4. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) GCGATGCACGGTACCATCTTC 0.383000 O hepatocellular ca 112 28 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423566 56423566 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:56423566G>A uc010ygg.2 - 4 1642 c.1617C>T c.(1615-1617)ttC>ttT p.F539F NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 539 NACHT. ATP binding p.F539F(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AAAACTCCTGGAAACTTAGGT 0.453000 39 19 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886169 88886169 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:88886169C>T uc003ydz.3 - 0 128 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 11 p.E11*(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TTGTCTGCTTCCTCGAGCAGT 0.522000 43 10 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763562 92763562 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92763562C>T uc003umh.1 - 4 2939 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K SAMD9L_uc003umj.1_Missense_Mutation_p.E575K|SAMD9L_uc003umi.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfb.1_Missense_Mutation_p.E575K|SAMD9L_uc003umk.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfc.1_Missense_Mutation_p.E575K|SAMD9L_uc010lfd.1_Missense_Mutation_p.E575K|SAMD9L_uc022ahh.1_Missense_Mutation_p.E575K NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 575 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AACATATTTTCCATTCCTTTG 0.358000 43 20 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43421444 43421444 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:43421444C>T uc001mxi.3 + 8 1135 c.1065C>T c.(1063-1065)ctC>ctT p.L355L TTC17_uc001mxh.3_Silent_p.L355L|TTC17_uc010rfj.2_Silent_p.L298L|TTC17_uc001mxj.3_Silent_p.L125L NM_018259 NP_060729 Q96AE7 TTC17_HUMAN Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA. 355 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TAAGATCTCTCCAGCGAACAC 0.358000 41 7 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101542534 101542535 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:101542534_101542535GG>AA uc004ayu.3 - 5 1325_1326 c.1304_1305CC>TT c.(1303-1305)ccc>cTT p.P435L ANKS6_uc004ayv.2_5'Flank|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.P134L NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA. 435 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) CCTTCGAGTGGGGCAGGGGAGG 0.574000 22 7 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027179 37027179 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:37027179C>T uc004ddl.2 + 0 748 c.696C>T c.(694-696)tcC>tcT p.S232S NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 232 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CTCAGGTGTCCAGTCTCCACC 0.652000 15 27 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4254615 4254615 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:4254615C>T uc002cvz.4 - 1 95 c.82G>A c.(82-84)Gaa>Aaa p.E28K SRL_uc002cvy.4_Non-coding_Transcript NM_001098814 NP_001092284 Q86TD4 SRCA_HUMAN Homo sapiens sarcalumenin (SRL), mRNA. 487 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GGGGCTTCTTCATTTGCATCC 0.567000 50 17 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53814535 53814535 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:53814535C>T uc003jpj.4 + 0 943 c.753C>T c.(751-753)ttC>ttT p.F251F SNX18_uc011cqg.2_Silent_p.F251F|SNX18_uc003jpi.4_Silent_p.F251F NM_052870 NP_443102 Q96RF0 SNX18_HUMAN Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA. 251 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) CGTCAGGCTTCGTGAAGGACG 0.667000 66 40 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38906695 38906695 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:38906695C>T uc021yzh.1 + 78 12047 c.11938C>T c.(11938-11940)Ctc>Ttc p.L3980F DNAH8_uc003ooe.2_Missense_Mutation_p.L3763F|DNAH8_uc003oog.1_Missense_Mutation_p.L212F|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTTTGTACTCCTCATGACCTT 0.383000 40 17 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26722416 26722416 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:26722416G>A uc003xfc.1 - 0 507 c.71C>T c.(70-72)tCc>tTc p.S24F ADRA1A_uc010lul.1_Missense_Mutation_p.S24F|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.S24F|ADRA1A_uc010lum.1_Missense_Mutation_p.S24F|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.S24F|ADRA1A_uc003xfh.1_Missense_Mutation_p.S24F|ADRA1A_uc022atd.1_Missense_Mutation_p.S24F NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 24 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AATGGCCTTGGAAATGTTCAC 0.617000 171 43 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41420107 41420107 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:41420107C>T uc002xkg.3 - 3 399 c.215_splice c.e3-1 p.G72_splice PTPRT_uc010ggj.3_Splice_Site_p.G72_splice NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 72 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATGAAAGATCCTGGAGACCCA 0.507000 5 4 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38466582 38466582 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:38466582G>A uc003tgu.3 - 14 1403 c.1187C>T c.(1186-1188)tCt>tTt p.S396F AMPH_uc003tgv.3_Missense_Mutation_p.S396F|AMPH_uc003tgt.3_Missense_Mutation_p.S323F|AMPH_uc003tgw.1_Missense_Mutation_p.S461F|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 396 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGAACCACCAGAAGCCTAAAC 0.333000 27 7 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110240892 110240893 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:110240892_110240893GG>AA uc001tpj.2 - 2 710_711 c.615_616CC>TT c.(613-618)ggccgc>ggTTgc p.R206C TRPV4_uc001tpg.2_Missense_Mutation_p.R172C|TRPV4_uc021rdp.1_Missense_Mutation_p.R206C|TRPV4_uc001tph.2_Missense_Mutation_p.R206C|TRPV4_uc001tpi.2_Missense_Mutation_p.R206C|TRPV4_uc001tpk.2_Missense_Mutation_p.R206C NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 206 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTGTCGTTGCGGCCATTGCTCA 0.579000 26 7 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17779846 17779846 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:17779846C>T uc003ncg.4 - 31 4076 c.3916G>A c.(3916-3918)Gaa>Aaa p.E1306K KIF13A_uc003ncf.3_Missense_Mutation_p.E1293K|KIF13A_uc003nch.4_Missense_Mutation_p.E1306K|KIF13A_uc003nci.4_Missense_Mutation_p.E1293K|KIF13A_uc003nce.2_5'Flank NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 1306 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GATACTATTTCATAGGTTACA 0.403000 44 11 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46658108 46658108 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:46658108A>T uc003oyj.3 + 0 2497 c.2243A>T c.(2242-2244)tAt>tTt p.Y748F TDRD6_uc010jze.3_Missense_Mutation_p.Y748F NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 748 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GCATCTGTTTATTTTCCTCTT 0.383000 31 11 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30529015 30529015 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:30529015G>A uc002dyi.4 + 26 3198 c.3022G>A c.(3022-3024)Gat>Aat p.D1008N ITGAL_uc002dyj.4_Missense_Mutation_p.D924N|ITGAL_uc010vev.2_Missense_Mutation_p.D242N NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 1008 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GAGGCTCCCGGATGCAGCTGA 0.612000 59 19 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5475152 5475152 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5475152G>A uc010qzf.2 + 0 515 c.434G>A c.(433-435)gGt>gAt p.G145D HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCAATGGGTTTAGGTGCA 0.488000 75 21 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142575001 142575001 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142575001G>A uc003wbx.2 - 3 610 c.381C>T c.(379-381)aaC>aaT p.N127N TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 127 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TCATGTTCTGGTTCACAACAG 0.617000 93 19 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563607 75563607 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:75563607G>A uc002fej.1 - 4 1015 c.694C>T c.(694-696)Ccg>Tcg p.P232S CHST5_uc002fei.3_Missense_Mutation_p.P226S|CHST5_uc021tlk.1_Missense_Mutation_p.P226S NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA. 226 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 ACGGCCCGCGGGTCGCGCACC 0.706000 58 26 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23519924 23519924 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:23519924C>T uc001bgn.3 - 0 1299 c.789G>A c.(787-789)ggG>ggA p.G263G NM_000864 NP_000855 P28221 5HT1D_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA. 263 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) AGTGCGAGTGCCCCTCATGGA 0.582000 87 25 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28618277 28618277 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:28618277C>T uc002dqn.3 - 7 1359 c.767G>A c.(766-768)gGa>gAa p.G256E NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqi.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqk.3_Missense_Mutation_p.G165E|SULT1A1_uc002dql.3_Missense_Mutation_p.G165E|SULT1A1_uc002dqm.3_Missense_Mutation_p.G87E|SULT1A1_uc002dqp.3_Missense_Mutation_p.G165E NM_177534 NP_803878 P50225 ST1A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA. 165 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 CCCACCTTCTCCGACCATGAA 0.567000 70 25 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310058 24310058 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:24310058C>T uc002nru.3 + 3 1390 c.1256C>T c.(1255-1257)tCa>tTa p.S419L ZNF254_uc010xrk.2_Missense_Mutation_p.S334L NM_203282 NP_975011 O75437 ZN254_HUMAN Homo sapiens zinc finger protein 254 (ZNF254), mRNA. 419 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AATCGATCTTCAAATCTTACT 0.348000 12 9 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48467395 48467395 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:48467395G>A uc003toq.2 + 41 12516 c.12492G>A c.(12490-12492)aaG>aaA p.K4164K ABCA13_uc010kys.1_Silent_p.K1238K|ABCA13_uc010kyt.1_Non-coding_Transcript NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 4164 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ATTCCAACAAGAAATCTCACA 0.413000 24 3 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42166142 42166142 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:42166142G>A uc001zos.3 - 24 5019 c.4686C>T c.(4684-4686)atC>atT p.I1562I NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 1597 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACTGCTCCACGATGTGTTGGG 0.647000 30 28 0 0 1 0 0 TECR 9524 broad.mit.edu 37 19 14674799 14674799 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:14674799C>T uc002mza.3 + 5 403 c.273C>T c.(271-273)ttC>ttT p.F91F TECR_uc010xns.2_5'UTR|TECR_uc002mzc.3_5'UTR|TECR_uc002mzb.3_Silent_p.F106F|TECR_uc002mze.3_5'Flank NM_138501 NP_612510 Q9NZ01 TECR_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA. 91 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 CTCAGGTCTTCCTAACAGAGT 0.547000 144 68 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107225292 107225292 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:107225292G>A uc004enn.1 - 1 159 c.66C>T c.(64-66)atC>atT p.I22I NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN Homo sapiens testis expressed 13B (TEX13B), mRNA. 22 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 CCATTTTCTCGATGATGAAGG 0.562000 7 21 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996075 43996075 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:43996075G>A uc003bdy.2 - 22 3064 c.2750C>T c.(2749-2751)tCg>tTg p.S917L EFCAB6_uc003bdz.2_Missense_Mutation_p.S765L|EFCAB6_uc010gzi.2_Missense_Mutation_p.S765L|EFCAB6_uc010gzj.1_Missense_Mutation_p.S143L NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 917 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GACAGCAGGCGAATAGTTAAT 0.428000 313 49 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468960 56468960 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:56468960G>A uc021wzo.1 - 0 216 c.76C>T c.(76-78)Cgt>Tgt p.R26C ERC2_uc003dhr.1_Missense_Mutation_p.R26C NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 26 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding p.R26C(3) breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGGCCCAAACGAGGAGACCTT 0.488000 32 12 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67047294 67047294 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:67047294G>A uc003xvv.3 + 2 637 c.411G>A c.(409-411)ctG>ctA p.L137L TRIM55_uc003xvu.3_Silent_p.L137L|TRIM55_uc003xvw.3_Silent_p.L137L|TRIM55_uc003xvx.3_Silent_p.L137L NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 137 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TCTACTGTCTGAACTGCGAAG 0.522000 55 14 0 0 1 0 0 FUT5 2527 broad.mit.edu 37 19 5867109 5867109 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:5867109C>T uc002mdo.4 - 1 799 c.628G>A c.(628-630)Gtg>Atg p.V210M FUT5_uc010duo.3_Missense_Mutation_p.V210M|FUT5_uc021uno.1_Missense_Mutation_p.V210M NM_002034 NP_002025 Q11128 FUT5_HUMAN Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA. 210 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 CAGTTGGACACCGCCCAGGCC 0.677000 25 11 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17306100 17306100 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:17306100C>T uc010eak.3 + 21 4016 c.3864C>T c.(3862-3864)ccC>ccT p.P1288P MYO9B_uc002nfi.3_Silent_p.P1288P|MYO9B_uc002nfj.1_Silent_p.P1288P|MYO9B_uc002nfl.1_5'Flank NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1288 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity p.P1288P(3) breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 AGGAAAAGCCCGACAGCCCCG 0.706000 58 15 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122413480 122413481 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:122413480_122413481CC>TT uc009zxk.3 + 18 3054_3055 c.2895_2896CC>TT c.(2893-2898)ctccgc>ctTTgc p.R966C NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA. 966 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ATTCTCAGCTCCGCAGTCAAGG 0.441000 27 13 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151866309 151866309 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:151866309G>A uc003wla.3 - 40 9698 c.9479C>T c.(9478-9480)tCt>tTt p.S3160F MLL3_uc003wkz.3_Missense_Mutation_p.S2221F|MLL3_uc003wky.3_Missense_Mutation_p.S669F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 3160 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATTAGGCCTAGAAATCTGATG 0.333000 N medulloblastoma 33 26 0 0 1 0 0 C1orf222 339457 broad.mit.edu 37 1 1854915 1854915 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:1854915C>T uc001aik.3 - 7 1261 c.411G>A c.(409-411)ctG>ctA p.L137L C1orf222_uc001ail.3_Silent_p.L137L Q69YW0 CA222_HUMAN RecName: Full=Uncharacterized protein C1orf222; 137 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CGGCACCCTTCAGCAGGATCT 0.637000 23 4 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42137229 42137229 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:42137229C>A uc001zoo.4 + 17 1933 c.1893C>A c.(1891-1893)aaC>aaA p.N631K JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.N631K|JMJD7-PLA2G4B_uc001zoq.4_Missense_Mutation_p.N101K|JMJD7-PLA2G4B_uc010bco.3_Missense_Mutation_p.N400K|JMJD7-PLA2G4B_uc001zor.1_Missense_Mutation_p.N101K NM_005090 NP_005081 P0C869 PA24B_HUMAN Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA. 400 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GCTTCACCAACCTGTGGGCCC 0.692000 4 3 1 1 1 1 0 SLC12A8 84561 broad.mit.edu 37 3 124807214 124807214 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:124807214C>T uc003ehw.4 - 13 2079 c.2009_splice c.e13-1 p.G670_splice SLC12A8_uc003ehv.4_Splice_Site_p.G641_splice|SLC12A8_uc003eht.4_Splice_Site_p.G442_splice|SLC12A8_uc010hry.3_Intron NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 641 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GGAGGCTGATCCTGCAGGGAA 0.463000 28 5 0 0 1 0 0 ZBED4 9889 broad.mit.edu 37 22 50279178 50279178 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:50279178C>T uc003bix.2 + 1 2338 c.1868C>T c.(1867-1869)tCc>tTc p.S623F ZBED4_uc021wrx.1_Missense_Mutation_p.S623F NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 623 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCTCGGCCCTCCTCTCCGGAC 0.532000 62 20 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36766013 36766013 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:36766013G>A uc003omr.1 - 5 400 c.333C>T c.(331-333)ttC>ttT p.F111F CPNE5_uc003oms.1_Silent_p.F73F NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 111 C2 1. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCTGGCCCAGGAAATCCTGCA 0.602000 15 6 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24727398 24727398 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:24727398G>A uc001iru.4 + 4 1239 c.836G>A c.(835-837)gGa>gAa p.G279E KIAA1217_uc001irs.3_Missense_Mutation_p.G199E|KIAA1217_uc001irt.4_Missense_Mutation_p.G279E|KIAA1217_uc010qcy.2_Missense_Mutation_p.G279E|KIAA1217_uc010qcz.2_Missense_Mutation_p.G279E|KIAA1217_uc001irv.1_Missense_Mutation_p.G129E|KIAA1217_uc010qda.1_Non-coding_Transcript NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 279 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ACTATGAATGGAGACATGAGG 0.403000 40 17 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57585270 57585270 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:57585270C>T uc001snd.3 + 43 7870 c.7404C>T c.(7402-7404)atC>atT p.I2468I NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 2468 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGGCATCATCGCCGTGGCCA 0.647000 44 8 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6204669 6204669 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:6204669G>A uc001qnn.1 - 5 864 c.614C>T c.(613-615)cCt>cTt p.P205L VWF_uc010set.1_Missense_Mutation_p.P205L|VWF_uc001qno.1_Missense_Mutation_p.P242L NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 205 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCTGCTGGGAGGAGATGCCCG 0.542000 87 32 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117710272 117710272 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:117710272G>A uc001twn.2 - 9 2468 c.1757C>T c.(1756-1758)gCc>gTc p.A586V NOS1_uc021ren.1_Missense_Mutation_p.A250V|NOS1_uc021reo.1_Missense_Mutation_p.A250V|NOS1_uc001twm.2_Missense_Mutation_p.A586V NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 586 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GAAGGGACAGGCGCTGAACTC 0.592000 54 17 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14958792 14958792 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:14958792G>A uc003bzc.3 + 11 3552 c.3442G>A c.(3442-3444)Gat>Aat p.D1148N FGD5_uc011avk.2_Missense_Mutation_p.D1148N|FGD5_uc003bzd.3_Missense_Mutation_p.D226N NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 1148 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCCCCAGAAGGATGGGAAGTA 0.582000 22 5 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896750 227896751 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:227896750_227896751GG>AA uc021vxr.1 - 38 3828_3829 c.3727_3728CC>TT c.(3727-3729)cct>TTt p.P1243F COL4A4_uc021vxs.1_Missense_Mutation_p.P1243F NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1243 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGCACCTGCAGGACCAGGTGGT 0.500000 23 5 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240420 126240420 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:126240420C>T uc003ifj.4 + 0 2854 c.2854C>T c.(2854-2856)Ctt>Ttt p.L952F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 952 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATTAGTCTGCTTGGGCCCCT 0.463000 16 7 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68119352 68119352 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:68119352C>T uc002aqy.1 + 2 1054 c.1054C>T c.(1054-1056)Cct>Tct p.P352S NM_001031807 NP_001026977 P84550 SKOR1_HUMAN Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA. 396 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus SMAD binding|nucleotide binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 TTTCCCCCATCCTTACGGCTT 0.672000 22 6 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73558715 73558715 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:73558715C>T uc002avm.4 + 15 2649 c.2457C>T c.(2455-2457)atC>atT p.I819I NEO1_uc010ukx.2_Silent_p.I819I|NEO1_uc010uky.2_Silent_p.I819I|NEO1_uc002avn.4_Silent_p.I839I|NEO1_uc010ukz.2_Silent_p.I243I NM_002499 NP_002490 Q92859 NEO1_HUMAN Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA. 819 Fibronectin type-III 4. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 GTGAAGGCATCCCCCTGTATG 0.438000 78 77 0 0 1 0 0 GATAD1 57798 broad.mit.edu 37 7 92085780 92085780 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92085780C>T uc003ulx.1 + 4 993 c.714C>T c.(712-714)ccC>ccT p.P238P NM_021167 NP_066990 Q8WUU5 GATD1_HUMAN Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA. 238 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|lung(3) 6 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) CACCATTTCCCACAGTTCCCA 0.448000 72 52 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52734706 52734706 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:52734706C>T uc001wzq.3 + 0 276 c.174C>T c.(172-174)ccC>ccT p.P58P NM_000953 NP_000944 Q13258 PD2R_HUMAN Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. 58 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) GCCCGCTGCCCTCGGTCTTCT 0.692000 21 7 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767055 77767055 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:77767055A>C uc003yau.2 + 9 8285 c.7898A>C c.(7897-7899)aAa>aCa p.K2633T ZFHX4_uc003yaw.1_Missense_Mutation_p.K2588T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2588 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V2633M(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTACCAGAAAAATGCTTGAT 0.493000 HNSCC(33;0.089) 28 3 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104079713 104079713 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:104079713C>T uc004bbb.3 + 6 1279 c.880C>T c.(880-882)Ccc>Tcc p.P294S LPPR1_uc011lvi.2_Missense_Mutation_p.P270S|LPPR1_uc004bbc.3_Missense_Mutation_p.P294S|LPPR1_uc010mtc.3_Missense_Mutation_p.P278S NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 294 integral to membrane catalytic activity GCCTGAGGATCCCCGTGGAGT 0.483000 98 27 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016374 141016374 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:141016374C>T uc004cog.3 + 45 7082 c.6937C>T c.(6937-6939)Cac>Tac p.H2313Y CACNA1B_uc022bqn.1_3'UTR|CACNA1B_uc004coi.3_Missense_Mutation_p.H1527Y NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2315 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CAACGGTTACCACTGCACCCT 0.667000 44 12 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950174 27950174 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:27950174C>T uc003zqv.1 - 6 1146 c.496G>A c.(496-498)Gtt>Att p.V166I LINGO2_uc010mjf.1_Missense_Mutation_p.V166I|LINGO2_uc003zqu.1_Missense_Mutation_p.V166I|LINGO2_uc022bfc.1_Missense_Mutation_p.V166I NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 166 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GATATATAAACCAAATCATTG 0.423000 7 6 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130778182 130778182 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:130778182G>A uc003kvn.2 - 22 3676 c.3470C>T c.(3469-3471)tCt>tTt p.S1157F RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1207F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1170F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1165F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1165F|RAPGEF6_uc003kvq.3_Missense_Mutation_p.S882F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.S1157F|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S80F NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA. 1157 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AGGCACTGGAGACATTTCAGA 0.438000 58 15 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49711004 49711004 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:49711004G>A uc002itv.4 - 8 1551 c.815C>T c.(814-816)tCc>tTc p.S272F CA10_uc002itw.4_Missense_Mutation_p.S266F|CA10_uc002itx.4_Missense_Mutation_p.S266F|CA10_uc002ity.4_Missense_Mutation_p.S266F|CA10_uc002itz.2_Missense_Mutation_p.S266F NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 266 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CAGGCGCAAGGAATGCATCTG 0.532000 60 5 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134084701 134084701 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:134084701G>A uc003eqf.2 - 4 1528 c.1411C>T c.(1411-1413)Cag>Tag p.Q471* AMOTL2_uc003eqg.1_Nonsense_Mutation_p.Q413*|AMOTL2_uc003eqh.1_Nonsense_Mutation_p.Q413*|AMOTL2_uc003eqe.1_Nonsense_Mutation_p.Q38* NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN Homo sapiens angiomotin like 2 (AMOTL2), mRNA. 413 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 CTGCCGGCCTGGGCCTCCTGT 0.567000 64 30 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135614561 135614561 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:135614561G>A uc003yup.3 - 5 1587 c.1401C>T c.(1399-1401)ttC>ttT p.F467F ZFAT_uc003yun.3_Silent_p.F455F|ZFAT_uc003yuo.3_Silent_p.F455F|ZFAT_uc010meh.3_Silent_p.F455F|ZFAT_uc010mej.3_Silent_p.F405F|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.F455F|ZFAT_uc003yur.3_Silent_p.F455F NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGGAGCTGACGAACTTCTTGC 0.607000 29 10 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46977718 46977718 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:46977718C>T uc001cpx.3 + 3 716 c.701C>T c.(700-702)tCc>tTc p.S234F DMBX1_uc001cpw.3_Missense_Mutation_p.S229F NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA. 234 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTTGCAGATTCCCCAGGCAGC 0.612000 224 61 0 0 1 0 0 PRKAG2 51422 broad.mit.edu 37 7 151372603 151372603 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:151372603G>A uc003wkk.3 - 3 1198 c.587C>T c.(586-588)tCc>tTc p.S196F PRKAG2_uc011kvl.2_Missense_Mutation_p.S72F|PRKAG2_uc003wkj.3_Missense_Mutation_p.S152F|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.S196F NM_016203 NP_077747 Q9UGJ0 AAKG2_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA. 196 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GTCCGGGGGGGAAGACGAGGC 0.587000 44 37 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109399281 109399281 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:109399281C>T uc002tem.4 + 27 9458 c.9332C>T c.(9331-9333)tCc>tTc p.S3111F NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 3111 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTCAAGAATTCCATTTTTCAC 0.393000 33 40 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228789 39228789 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:39228789G>A uc003cjk.2 - 1 2377 c.2148C>T c.(2146-2148)atC>atT p.I716I XIRP1_uc003cji.3_Silent_p.I716I|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.I716I NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 716 actin binding p.I716I(2) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGGACCCAGCGATTACCCGGG 0.592000 27 14 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17966743 17966743 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:17966743C>T uc001ban.3 + 20 2377 c.2218C>T c.(2218-2220)Ccc>Tcc p.P740S ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P701S|ARHGEF10L_uc001bao.3_Missense_Mutation_p.P701S|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P696S|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P501S|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P513S|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P443S|ARHGEF10L_uc009vpf.3_Non-coding_Transcript NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 740 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.P740S(3) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CACCCCCAACCCCCTGAGCAA 0.572000 17 12 0 0 1 0 0 PFKFB1 5207 broad.mit.edu 37 X 54978520 54978520 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:54978520C>T uc004dty.1 - 7 735 c.664G>A c.(664-666)Gac>Aac p.D222N PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.D157N NM_002625 NP_002616 P16118 F261_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA. 222 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 GTGCCCACGTCGAAGATCTTG 0.567000 5 7 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201030407 201030407 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:201030407C>T uc001gvv.3 - 24 3470 c.3243G>A c.(3241-3243)ctG>ctA p.L1081L NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1081 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGTTCTTGTCCAGCTCACAGT 0.567000 22 13 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762205 24762205 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:24762205C>T uc001iru.4 + 5 1298 c.895C>T c.(895-897)Cgc>Tgc p.R299C KIAA1217_uc001irs.3_Missense_Mutation_p.R219C|KIAA1217_uc001irt.4_Missense_Mutation_p.R299C|KIAA1217_uc010qcy.2_Missense_Mutation_p.R299C|KIAA1217_uc010qcz.2_Missense_Mutation_p.R299C|KIAA1217_uc001irv.1_Missense_Mutation_p.R149C|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.R17C|KIAA1217_uc001irz.3_Missense_Mutation_p.R17C|KIAA1217_uc001irx.3_Missense_Mutation_p.R17C|KIAA1217_uc001iry.3_Missense_Mutation_p.R17C NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 299 Pro-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TGGGGCCCCTCGCCCCGGATC 0.517000 44 17 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419298 10419298 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10419298C>T uc002gmo.3 - 4 544 c.450G>A c.(448-450)gaG>gaA p.E150E AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 150 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGGGTGGGGCCTCCTGGCGCT 0.498000 67 23 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625232 111625232 + Silent SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:111625232A>G uc004bdj.1 + 0 630 c.630A>G c.(628-630)ggA>ggG p.G210G NM_006687 NP_006678 Q9Y615 ACL7A_HUMAN Homo sapiens actin-like 7A (ACTL7A), mRNA. 210 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 ACTCCTATGGAAGGACCTCCG 0.562000 48 13 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17394684 17394684 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:17394684C>T uc010xpn.1 + 4 1387 c.1273C>T c.(1273-1275)Cga>Tga p.R425* ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Nonsense_Mutation_p.R371*|ANKLE1_uc010eao.1_Nonsense_Mutation_p.R393*|ANKLE1_uc002nfy.2_Nonsense_Mutation_p.R360*|ANKLE1_uc002nfz.2_Nonsense_Mutation_p.R77* Q8NAG6 ANKL1_HUMAN Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA. 371 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GAAGGGACTCCGAGCACTTGG 0.577000 30 19 0 0 1 0 0 NANOG 79923 broad.mit.edu 37 12 7945562 7945562 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7945562C>T uc009zfy.1 + 1 384 c.168C>T c.(166-168)tcC>tcT p.S56S NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Homo sapiens Nanog homeobox (NANOG), mRNA. 56 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Kidney(36;0.0872) CTCTTCCTTCCTCCATGGATC 0.378000 103 36 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599194 62599194 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:62599194G>A uc010ihh.3 + 4 1290 c.1117G>A c.(1117-1119)Gac>Aac p.D373N LPHN3_uc003hcq.4_Missense_Mutation_p.D373N|LPHN3_uc010ihg.1_Missense_Mutation_p.D441N|LPHN3_uc003hcs.1_Missense_Mutation_p.D202N NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 373 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CAACCCCAGGGACAACCTACT 0.398000 16 4 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145290446 145290446 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:145290446C>T uc001emo.2 + 4 1022 c.652C>T c.(652-654)Cct>Tct p.P218S NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Intron|NBPF10_uc021oul.1_5'Flank|NBPF10_uc001emq.1_5'Flank NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA. 0 EGF-like 6. Notch signaling pathway|cell differentiation|multicellular organismal development cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 GCCAATCTTTCCTAAGCTGCT 0.373000 180 8 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104490994 104490994 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:104490994C>T uc001yom.4 + 24 2725 c.2695C>T c.(2695-2697)Ctt>Ttt p.L899F TDRD9_uc001yon.4_Missense_Mutation_p.L637F NM_153046 NP_694591 Q8NDG6 TDRD9_HUMAN Homo sapiens tudor domain containing 9 (TDRD9), mRNA. 899 DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TACAGATCTCCTTCTAACTAT 0.398000 41 12 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70493934 70493934 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:70493934G>A uc001dep.3 + 15 1791 c.1761G>A c.(1759-1761)gtG>gtA p.V587V LRRC7_uc009wbg.3_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 587 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AAAATTTGGTGGGTAAGCCAA 0.388000 40 35 0 0 1 0 0 KIAA1644 85352 broad.mit.edu 37 22 44692683 44692683 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:44692683G>A uc003bet.2 - 2 283 c.150C>T c.(148-150)ctC>ctT p.L50L NM_001099294 NP_001092764 Q3SXP7 K1644_HUMAN Homo sapiens KIAA1644 (KIAA1644), mRNA. 50 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222) TGTTGTCCGAGAGCCGGGGGC 0.542000 335 45 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19047037 19047037 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:19047037G>A uc002dfp.2 + 6 1027 c.897G>A c.(895-897)gaG>gaA p.E299E TMC7_uc010vao.1_Silent_p.E299E|TMC7_uc002dfq.3_Silent_p.E299E|TMC7_uc010vap.2_Silent_p.E189E NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 299 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTCGGAGTGAGGAGCACTTTC 0.483000 44 48 0 0 1 0 0 PRR13 54458 broad.mit.edu 37 12 53839812 53839812 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:53839812C>T uc001scz.4 + 3 580 c.416C>T c.(415-417)tCc>tTc p.S139F PRR13_uc001scy.4_Missense_Mutation_p.S89F|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.4_Missense_Mutation_p.S139F NM_018457 NP_060927 Q9NZ81 PRR13_HUMAN Homo sapiens proline rich 13 (PRR13), transcript variant 2, mRNA. 139 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1) 6 TCCTCCTCTTCCTCCTCCTCT 0.522000 26 38 0 0 1 0 0 FGF23 8074 broad.mit.edu 37 12 4479941 4479941 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:4479941G>A uc001qmq.1 - 2 470 c.324C>T c.(322-324)ttC>ttT p.F108F NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. 108 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.F108F(2) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TCTCCGGGTCGAAATAGTGCT 0.617000 53 15 0 0 1 0 0 AGK 55750 broad.mit.edu 37 7 141301038 141301038 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:141301038C>A uc003vwi.2 + 4 426 c.255C>A c.(253-255)gcC>gcA p.A85A AGK_uc011krg.1_Non-coding_Transcript NM_018238 NP_060708 Q53H12 AGK_HUMAN Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA. 85 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) AAAATGCTGCCCCGATTTTAC 0.358000 45 11 4.93089e-13 5.0028e-13 1 1 0 CASD1 64921 broad.mit.edu 37 7 94166830 94166830 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:94166830C>A uc003uni.4 + 8 1117 c.890C>A c.(889-891)cCt>cAt p.P297H CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.4_Missense_Mutation_p.P297H NM_022900 NP_075051 Q96PB1 CASD1_HUMAN Homo sapiens CAS1 domain containing 1 (CASD1), mRNA. 297 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ATTTTGAAGCCTGTAGATGGG 0.343000 107 25 7.26314e-15 7.38136e-15 1 1 0 PRDM1 639 broad.mit.edu 37 6 106553132 106553132 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:106553132G>A uc003prd.2 + 4 1331 c.1097G>A c.(1096-1098)gGc>gAc p.G366D PRDM1_uc003pre.3_Missense_Mutation_p.G232D NM_001198 NP_001189 O75626 PRDM1_HUMAN Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA. 366 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GTGGGCCCCGGCTCTCAAGAG 0.647000 """D, N, Mis, F, S""" DLBCL 21 13 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72427589 72427589 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:72427589G>A uc003dpe.3 - 3 604 c.604C>T c.(604-606)Cgt>Tgt p.R202C NM_012234 NP_036366 Q8N488 RYBP_HUMAN Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA. 212 Interaction with E4TF1B.|Ser-rich. apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GTGGAGGAACGGGAGGAGCCC 0.502000 10 8 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50318524 50318525 + Missense_Mutation DNP TC AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:50318524_50318525TC>AA uc021vhh.1 - 17 4575_4576 c.3654_3655GA>TT c.(3652-3657)acgagg>acTTgg p.R1219W NRXN1_uc010fbp.3_Missense_Mutation_p.R184W|NRXN1_uc002rxb.4_Missense_Mutation_p.R891W|NRXN1_uc021vhg.1_Missense_Mutation_p.R1259W|NRXN1_uc021vhi.1_Missense_Mutation_p.R1255W|NRXN1_uc021vhj.1_Missense_Mutation_p.R1215W NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 1219 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCACCACTCCTCGTGAAACGAA 0.450000 73 33 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43298834 43298834 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:43298834G>A uc002yzq.1 - 2 494 c.383C>T c.(382-384)cCc>cTc p.P128L PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 128 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 CGCGGGGTTGGGGGTCCAGGG 0.672000 16 5 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39279796 39279796 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39279796G>A uc002hwa.3 - 0 624 c.579C>T c.(577-579)ccC>ccT p.P193P NM_031854 NP_114060 Q9BQ66 KR412_HUMAN Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA. 193 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CACAGCACAAGGGGCGGGGGC 0.577000 15 3 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161010648 161010648 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:161010648G>A uc001fxi.3 - 7 770 c.575C>T c.(574-576)cCc>cTc p.P192L F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Missense_Mutation_p.P133L NM_007122 NP_996888 P22415 USF1_HUMAN Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA. 192 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.P192A(1) central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGTCGTCCGGGGAGCTTCTGA 0.478000 28 23 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68405833 68405833 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:68405833G>A uc002ewa.3 - 2 674 c.252C>T c.(250-252)ttC>ttT p.F84F SMPD3_uc010cfe.3_Silent_p.F84F|SMPD3_uc010vlh.2_Silent_p.F84F NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA. 84 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GTGGGGACCAGAAGAGAAAGC 0.647000 4 12 0 0 1 0 0 C3orf17 25871 broad.mit.edu 37 3 112724519 112724519 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:112724519A>T uc003dzr.3 - 8 1629 c.1568T>A c.(1567-1569)aTt>aAt p.I523N C3orf17_uc011bia.2_Missense_Mutation_p.I320N|C3orf17_uc003dzu.3_Missense_Mutation_p.I452N|C3orf17_uc011bib.2_Missense_Mutation_p.I412N|C3orf17_uc011bic.2_Missense_Mutation_p.I356N|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.I148N|C3orf17_uc003dzt.3_Missense_Mutation_p.I426N|C3orf17_uc003dzs.3_Missense_Mutation_p.I387N|C3orf17_uc010hqg.3_Missense_Mutation_p.I348N NM_015412 NP_056227 Q6NW34 CC017_HUMAN Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA. 523 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 ATTTTCATGAATCATTTTCTC 0.378000 49 38 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53779852 53779852 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:53779852G>A uc003dgv.4 + 24 3280 c.3117G>A c.(3115-3117)ggG>ggA p.G1039G CACNA1D_uc003dgu.4_Silent_p.G1059G|CACNA1D_uc003dgy.4_Silent_p.G1039G|CACNA1D_uc003dgw.4_Silent_p.G706G|CACNA1D_uc003dgx.1_Silent_p.G187G NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1039 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATACCCAGGGGAAGTTCTATC 0.458000 7 9 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135369161 135369161 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:135369161G>A uc001lno.2 - 10 875 c.770C>T c.(769-771)gCt>gTt p.A257V CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.A129V|SYCE1_uc009ybn.2_Missense_Mutation_p.A257V|SYCE1_uc001lnn.2_Missense_Mutation_p.A221V NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA. 257 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) gcgctgggcagcagctgctAG 0.662000 46 10 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926532 1926532 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:1926532G>A uc002qxe.3 - 9 1836 c.1009C>T c.(1009-1011)Ctg>Ttg p.L337L MYT1L_uc002qxd.3_Silent_p.L337L|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 337 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D336N(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTCCTGGCCAGGTCGAAGCAC 0.557000 12 18 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869135 36869135 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:36869135G>A uc002xhy.1 - 2 1670 c.1398C>T c.(1396-1398)ccC>ccT p.P466P KIAA1755_uc002xhz.1_Silent_p.P466P NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 466 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) CAGGAGTGGGGGGCTCAGGGG 0.562000 49 38 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125438296 125438296 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:125438296G>A uc011lzb.2 + 0 888 c.888G>A c.(886-888)atG>atA p.M296I NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D295Y(1) breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 ACAAAGACATGAAACGGGGCT 0.378000 24 8 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248617031 248617031 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:248617031C>T uc001iek.1 + 0 933 c.933C>T c.(931-933)tcC>tcT p.S311S NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 311 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) GATGTGGTTCCTCCCAGAGCA 0.547000 29 15 0 0 1 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567320 140567320 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140567320C>T uc003liw.1 + 0 428 c.428C>T c.(427-429)tCa>tTa p.S143L NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 143 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAAAAATATCAGAAAATACA 0.428000 60 23 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058777 9058777 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9058777C>T uc002mkp.3 - 2 28873 c.28669G>A c.(28669-28671)Gac>Aac p.D9557N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9559 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 ACCATGTTGTCTCTTATAGAG 0.488000 30 11 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138416994 138416994 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:138416994G>A uc022bpk.1 + 5 578 c.518G>A c.(517-519)gGa>gAa p.G173E LCN1_uc022bpj.1_Missense_Mutation_p.G170E|LCN1_uc004cfz.2_Silent_p.G174G|LCN1_uc004cga.2_Silent_p.G174G NM_001252618 NP_001239547 P31025 LCN1_HUMAN Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA. 0 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) GCTCTCCAGGGAGCGATTAGG 0.572000 43 9 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39979003 39979003 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:39979003C>T uc010ggh.3 + 6 1162 c.1071C>T c.(1069-1071)ccC>ccT p.P357P LPIN3_uc002xjx.3_Silent_p.P356P|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 356 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) TTCCAGTTCCCACCGGGCAGC 0.652000 22 11 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38651333 38651333 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:38651333G>A uc021wvo.1 - 5 878 c.826C>T c.(826-828)Cta>Tta p.L276L SCN5A_uc021wvk.1_Silent_p.L276L|SCN5A_uc021wvl.1_Silent_p.L276L|SCN5A_uc021wvm.1_Silent_p.L276L|SCN5A_uc021wvn.1_Silent_p.L276L|SCN5A_uc021wvp.1_Silent_p.L276L|SCN5A_uc021wvq.1_Silent_p.L276L|SCN5A_uc021wvr.1_Silent_p.L276L|SCN5A_uc021wvs.1_Silent_p.L276L|SCN5A_uc021wvt.1_Silent_p.L276L|SCN5A_uc021wvu.1_Silent_p.L276L|SCN5A_uc021wvv.1_Silent_p.L276L|SCN5A_uc021wvj.1_Silent_p.L142L|SCN5A_uc021wvi.1_Silent_p.L142L|SCN5A_uc010hhl.1_Silent_p.L99L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 276 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTGTGCCTTAGGTTGCCCATG 0.587000 55 19 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895555 42895555 + Missense_Mutation SNP G A A rs113203706 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:42895555G>A uc003gwt.3 + 0 273 c.272G>A c.(271-273)gGt>gAt p.G91D NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 91 G -> V. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 AGTGAGAAGGGTTTTGGTACA 0.458000 50 38 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68459045 68459045 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:68459045C>T uc003hde.4 + 7 879 c.797C>T c.(796-798)cCa>cTa p.P266L STAP1_uc003hdf.3_Missense_Mutation_p.P266L NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 266 SH2. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 AATTTAAGACCATTTATATGT 0.343000 50 30 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23910931 23910931 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:23910931G>A uc001uon.2 - 9 7673 c.7084C>T c.(7084-7086)Cat>Tat p.H2362Y SACS_uc001uoo.2_Missense_Mutation_p.H2215Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 2362 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAATTTAAATGAAAAGAAACC 0.343000 21 6 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24350738 24350738 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:24350738G>A uc003xeb.3 + 15 1951 c.1838G>A c.(1837-1839)gGa>gAa p.G613E ADAM7_uc003xec.3_Missense_Mutation_p.G385E NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 613 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGTGGAGAGGGAATGGTAAGA 0.363000 13 3 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510573 5510573 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5510573G>A uc010qzg.2 + 0 659 c.637G>A c.(637-639)Gat>Aat p.D213N HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 213 D -> E (in dbSNP:rs7924754). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGGGACTGGATTCCATTCT 0.498000 95 50 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919362 130919362 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:130919362C>T uc001uil.2 - 10 2335 c.2119G>A c.(2119-2121)Gag>Aag p.E707K RIMBP2_uc001uim.3_Missense_Mutation_p.E615K NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 707 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TAGGCGTCCTCCTCGTCTGAG 0.602000 70 58 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7676661 7676661 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:7676661C>T uc002mgu.4 + 12 1464 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C CAMSAP3_uc002mgv.4_Missense_Mutation_p.R428C|CAMSAP3_uc002mgw.3_5'Flank NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 428 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 TGTGCTCCTCCGCTCTGTGAG 0.716000 4 5 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21212827 21212827 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:21212827G>A uc010bwn.1 - 13 1729 c.1647C>T c.(1645-1647)ttC>ttT p.F549F ZP2_uc002dii.2_Silent_p.F519F NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 519 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) GTTGGCGGAGGAATCTCACTA 0.453000 74 20 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145598600 145598600 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:145598600G>T uc001eog.3 - 7 975 c.932C>A c.(931-933)cCt>cAt p.P311H POLR3C_uc001eoh.3_Missense_Mutation_p.P298H|POLR3C_uc009wix.3_Missense_Mutation_p.P298H NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA. 298 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) ATAGCCAACAGGTAGGGATCT 0.398000 72 18 4.63292e-17 4.71621e-17 1 1 0 HYDIN 54768 broad.mit.edu 37 16 71101260 71101260 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:71101260C>T uc002ezr.3 - 14 2159 c.2008G>A c.(2008-2010)Gag>Aag p.E670K HYDIN_uc010cfz.2_Missense_Mutation_p.E415K|HYDIN_uc021tkq.1_Missense_Mutation_p.E670K|HYDIN_uc010vmc.2_Missense_Mutation_p.E687K|HYDIN_uc010vmd.2_Missense_Mutation_p.E697K|HYDIN_uc002ezw.4_Missense_Mutation_p.E687K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 670 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTGCCAGCTCGTATTTCTGC 0.527000 31 8 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30689246 30689246 + Missense_Mutation SNP C T T rs17093828 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:30689246C>T uc002wxh.3 + 12 1742 c.1505C>T c.(1504-1506)cCg>cTg p.P502L HCK_uc010gdy.3_Missense_Mutation_p.P482L|HCK_uc021wbv.1_Missense_Mutation_p.P481L|HCK_uc002wxi.3_Missense_Mutation_p.P480L NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 502 Protein kinase. P -> Q (in dbSNP:rs17093828). interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGGAGCGGCCGACCTTCGAA 0.592000 26 10 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904960 55904960 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:55904960G>A uc010riz.2 - 0 235 c.235C>T c.(235-237)Cct>Tct p.P79S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P79N(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGCATTTTAGGGGCAATGACA 0.418000 66 41 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613984 48613984 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:48613984G>A uc003ctz.2 - 67 5708 c.5707C>T c.(5707-5709)Cct>Tct p.P1903S NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1903 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGACACCAGGAAAACCCTGA 0.597000 3 3 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55707973 55707973 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55707973C>T uc002qjq.3 - 9 2247 c.2174G>A c.(2173-2175)cGg>cAg p.R725Q PTPRH_uc010esv.3_Missense_Mutation_p.R547Q|PTPRH_uc002qjs.2_Missense_Mutation_p.R732Q NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 725 Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGGGTAGGACCGAGCCGGCCC 0.637000 35 17 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394228 233394228 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:233394228C>T uc001hvl.2 - 4 1615 c.1380G>A c.(1378-1380)acG>acA p.T460T PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 460 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGGATACCCTCGTCTTCAGTC 0.552000 12 28 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36671744 36671744 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:36671744C>T uc010lvw.3 + 7 839 c.752C>T c.(751-753)cCc>cTc p.P251L KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 251 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCTGGTGATCCCTGGCTCAAA 0.383000 15 3 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2272490 2272490 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:2272490G>A uc003gex.2 - 12 2946 c.2626C>T c.(2626-2628)Cat>Tat p.H876Y ZFYVE28_uc011bvk.2_Missense_Mutation_p.H806Y|ZFYVE28_uc011bvl.2_Missense_Mutation_p.H846Y|ZFYVE28_uc003gew.2_Missense_Mutation_p.H762Y NM_020972 NP_001166130 Q9HCC9 LST2_HUMAN Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA. 876 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GGCGTGACATGGAACATGTAG 0.667000 65 13 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89339334 89339334 + Silent SNP G A A rs148050831 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:89339334G>A uc003yeb.4 - 0 384 c.102C>T c.(100-102)gtC>gtT p.V34V NM_005941 NP_005932 P51512 MMP16_HUMAN Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA. 34 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CCGTTCCGCAGACTGTAGCAC 0.498000 36 13 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945495 144945495 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:144945495G>A uc003zaa.1 - 0 1940 c.1927C>T c.(1927-1929)Ctt>Ttt p.L643F NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 643 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCTCCAGAAGGATGAGGGCA 0.627000 11 4 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104264044 104264044 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:104264044C>T uc001kvy.2 + 0 326 c.135C>T c.(133-135)taC>taT p.Y45Y SUFU_uc001kvw.2_Silent_p.Y45Y|SUFU_uc001kvx.3_Silent_p.Y45Y|ACTR1A_uc001kvv.3_5'Flank|ACTR1A_uc010qqn.2_5'Flank|ACTR1A_uc010qqo.2_5'Flank NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 45 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) GCCGCCTTTACCCTGACCAGC 0.687000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 48 12 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185167835 185167835 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:185167835G>A uc010hyf.3 + 6 1449 c.1158G>A c.(1156-1158)atG>atA p.M386I MAP3K13_uc011brt.2_Missense_Mutation_p.M179I|MAP3K13_uc003fph.4_Missense_Mutation_p.M154I|MAP3K13_uc011bru.2_Missense_Mutation_p.M242I|MAP3K13_uc003fpi.3_Missense_Mutation_p.M386I|MAP3K13_uc010hyg.3_Missense_Mutation_p.M76I NM_001242314 NP_001229243 O43283 M3K13_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA. 386 Protein kinase. JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAATCCTTATGAAACAGACGT 0.418000 52 13 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17496519 17496519 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:17496519G>A uc001mnc.3 - 1 330 c.204C>T c.(202-204)ttC>ttT p.F68F ABCC8_uc010rcy.1_Silent_p.F68F|ABCC8_uc021qej.1_Intron NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 68 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TGTGCCCAGGGAAATGAAGCC 0.572000 27 7 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678489 100678489 + Silent SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100678489A>G uc003uxp.1 + 2 3845 c.3792A>G c.(3790-3792)gaA>gaG p.E1264E MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1264 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACCGCTGAAGGTACCAGCT 0.522000 325 74 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48829839 48829839 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:48829839G>A uc001zwx.2 - 6 1100 c.705C>T c.(703-705)ttC>ttT p.F235F NM_000138 NP_000129 P35555 FBN1_HUMAN Homo sapiens fibrillin 1 (FBN1), mRNA. 235 TB 1. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TATTTGGAATGAAGCCACGGC 0.537000 103 17 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890060 139890060 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:139890060G>A uc003yvd.3 - 2 1038 c.591C>T c.(589-591)gtC>gtT p.V197V NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 197 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACACGTGGAAGACGTGGGCGG 0.667000 HNSCC(7;0.00092) 32 14 0 0 1 0 0 LOC442132 442132 broad.mit.edu 37 5 7303853 7303853 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:7303853C>T uc003jdy.2 - 4 c.501G>A Homo sapiens golgin A6 family-like 1 pseudogene (LOC442132), non-coding RNA. CTTCAAATTTCCTGGCAGCAT 0.502000 8 15 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149457785 149457785 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:149457785G>A uc003lrl.3 - 3 814 c.619C>T c.(619-621)Ctg>Ttg p.L207L CSF1R_uc011dcd.2_Silent_p.L59L|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.L207L|CSF1R_uc011dce.1_Silent_p.L207L|CSF1R_uc011dcf.2_Silent_p.L207L NM_005211 NP_005202 P07333 CSF1R_HUMAN Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA. 207 Ig-like C2-type 3. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GCAGGCACCAGTGTCAAGGCT 0.582000 27 7 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33998726 33998726 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:33998726G>A uc001bxm.1 - 63 10272 c.10095C>T c.(10093-10095)ttC>ttT p.F3365F CSMD2_uc001bxn.1_Silent_p.F3221F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3221 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCTTGAGGGAGAAGCCCTCCT 0.657000 19 12 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50546416 50546416 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:50546416G>A uc001zxz.3 - 5 973 c.631C>T c.(631-633)Ctg>Ttg p.L211L HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Silent_p.L211L|HDC_uc010bet.2_Silent_p.L132L|HDC_uc010beu.2_Silent_p.L211L NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 211 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TCCACAGGCAGAAATTTCATC 0.512000 58 18 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10794364 10794364 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:10794364C>T uc002mpn.3 + 15 2221 c.1904C>T c.(1903-1905)cCa>cTa p.P635L ILF3_uc010xli.1_Missense_Mutation_p.P233L|ILF3_uc002mpm.2_Missense_Mutation_p.P639L|ILF3_uc002mpl.2_Missense_Mutation_p.P635L|ILF3_uc002mpk.2_Missense_Mutation_p.P635L|ILF3_uc002mpo.3_Missense_Mutation_p.P639L|ILF3_uc002mpp.3_Missense_Mutation_p.P460L|ILF3_uc002mpq.3_5'Flank NM_012218 NP_036350 Q12906 ILF3_HUMAN Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA. 635 Interaction with PRMT1.|Poly-Pro. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GAAGTGCCCCCACCCCCCAAC 0.622000 27 16 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121345595 121345595 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:121345595A>T uc003eeg.2 + 3 2178 c.1968A>T c.(1966-1968)gaA>gaT p.E656D NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 656 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGTTTAATGAAGTCACCTCCA 0.463000 118 31 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15646282 15646283 + Missense_Mutation DNP TT GG GG TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:15646282_15646283TT>GG uc001ioc.1 - 19 2042_2043 c.2042_2043AA>CC c.(2041-2043)gaa>gCC p.E681A ITGA8_uc010qcb.1_Missense_Mutation_p.E666A NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 681 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.G680V(1)|p.G680G(1) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CATATGCTCCTTCCCCTTCATT 0.356000 37 14 0 0 1 0 0 CECR5 27440 broad.mit.edu 37 22 17630532 17630532 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:17630532G>A uc002zmf.3 - 1 258 c.230C>T c.(229-231)tCc>tTc p.S77F CECR5_uc002zmh.3_Missense_Mutation_p.S47F NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA. 77 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CTGCCCCTGGGAGTTCACCAG 0.587000 102 46 0 0 1 0 0 PGS1 9489 broad.mit.edu 37 17 76399825 76399825 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:76399825C>T uc002jvm.3 + 6 1069 c.1057C>T c.(1057-1059)Ccg>Tcg p.P353S PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Missense_Mutation_p.P66S|PGS1_uc002jvo.3_Non-coding_Transcript|PGS1_uc002jvp.1_Missense_Mutation_p.P66S NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA. 353 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CTGGATTTATCCGCTGATTCA 0.552000 64 30 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28474096 28474096 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:28474096C>T uc021yrx.1 - 2 402 c.352G>A c.(352-354)Ggt>Agt p.G118S GPX6_uc010jrg.1_Non-coding_Transcript NM_182701 NP_874360 P59796 GPX6_HUMAN Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA. 118 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CACTTGAGACCAAGAAGTATT 0.473000 40 6 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295225 10295225 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10295225A>G uc002gmm.2 - 38 5733 c.5638T>C c.(5638-5640)Tca>Cca p.S1880P AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1880 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTCTTGTATGATTTCACCTTC 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 30 69 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53202631 53202631 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:53202631G>A uc001saz.3 - 4 1060 c.1060C>T c.(1060-1062)Ctg>Ttg p.L354L NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 280 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 ATCTGGGACAGCTCCTGCAGG 0.562000 17 29 0 0 1 0 0 C6orf201 404220 broad.mit.edu 37 6 4099425 4099425 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:4099425G>A uc003mwa.4 + 2 1045 c.277G>A c.(277-279)Gtt>Att p.V93I C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.V93I|C6orf201_uc003mwb.4_Non-coding_Transcript NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA. 93 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) GTCCACCATAGTTGTCAGGTA 0.393000 52 11 0 0 1 0 0 NPDC1 56654 broad.mit.edu 37 9 139937542 139937542 + Silent SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:139937542A>G uc004cks.2 - 0 1003 c.330T>C c.(328-330)ccT>ccC p.P110P NPDC1_uc004ckt.2_Intron NM_015392 NP_056207 Q9NQX5 NPDC1_HUMAN Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA. 32 integral to membrane NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 5 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) AGGAAGCAGAAGGCAGGGCCG 0.731000 20 5 0 0 1 0 0 SLC17A3 10786 broad.mit.edu 37 6 25868580 25868580 + Silent SNP C T T rs148170965 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:25868580C>T uc003nfk.4 - 1 146 c.36G>A c.(34-36)agG>agA p.R12R SLC17A3_uc003nfi.4_Silent_p.R12R|SLC17A3_uc011djz.1_Silent_p.R12R|SLC17A3_uc011dka.1_Silent_p.R12R NM_001098486 NP_001091956 O00476 NPT4_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA. 12 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 TCTTGCTCTCCCTTGCTGTGG 0.438000 29 11 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196642220 196642220 + Silent SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:196642220A>G uc001gtj.4 + 1 411 c.171A>G c.(169-171)agA>agG p.R57R CFH_uc001gti.4_Silent_p.R57R|CFH_uc009wyw.3_Silent_p.R57R|CFH_uc009wyx.3_Silent_p.R57R NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 57 Sushi 1. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTGGATATAGATCTCTTGGAA 0.393000 40 30 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91428316 91428316 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:91428316G>A uc002bpv.3 + 1 160 c.41G>A c.(40-42)gGg>gAg p.G14E FES_uc010uqj.2_Missense_Mutation_p.G14E|FES_uc010uqk.2_Missense_Mutation_p.G14E|FES_uc002bpx.3_Missense_Mutation_p.G14E|FES_uc002bpy.3_Missense_Mutation_p.G14E|FES_uc010bny.3_Missense_Mutation_p.G14E NM_002005 NP_001996 P07332 FES_HUMAN Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA. 14 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CAGGGCCACGGGGTCCTGCAG 0.617000 653 49 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17420171 17420171 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:17420171C>T uc001baf.3 - 4 502 c.420G>A c.(418-420)tgG>tgA p.W140* PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Nonsense_Mutation_p.W140* NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 140 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.W140*(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GGCCCCAGGTCCAGGATGCCT 0.587000 45 14 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107832251 107832251 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:107832251C>T uc022aka.1 - 14 1931 c.1825G>A c.(1825-1827)Gat>Aat p.D609N NRCAM_uc011kmk.2_Missense_Mutation_p.D609N|NRCAM_uc003vfd.3_Missense_Mutation_p.D590N|NRCAM_uc003vfe.3_Missense_Mutation_p.D590N|NRCAM_uc003vfc.3_Missense_Mutation_p.D603N NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA. 609 Ig-like 6. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CCGCTGTCATCGTCACTGACA 0.502000 44 24 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41863828 41863828 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:41863828C>T uc001zof.2 + 13 1932 c.1696C>T c.(1696-1698)Ctc>Ttc p.L566F NM_006293 NP_006284 Q06418 TYRO3_HUMAN Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA. 566 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TGAAGAGTTCCTCAGGGAAGC 0.498000 52 20 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3599623 3599623 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:3599623G>A uc003jde.3 + 1 613 c.561G>A c.(559-561)aaG>aaA p.K187K NM_024337 NP_077313 P78414 IRX1_HUMAN Homo sapiens iroquois homeobox 1 (IRX1), mRNA. 187 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GCCTCAAGAAGGAGAACAAGG 0.642000 43 36 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193177001 193177001 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:193177001A>G uc003ftd.3 - 13 1651 c.1543T>C c.(1543-1545)Ttt>Ctt p.F515L ATP13A4_uc003fte.1_Missense_Mutation_p.F515L|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.F221L NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 515 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.F515L(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCTGAGGCAAAGCTGTGAACT 0.517000 39 12 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114504973 114504973 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:114504973C>T uc001eem.3 + 8 2177 c.2016C>T c.(2014-2016)ttC>ttT p.F672F HIPK1_uc001eel.3_Silent_p.F672F|HIPK1_uc001een.3_Silent_p.F672F|HIPK1_uc001eeo.3_Silent_p.F298F|HIPK1_uc001eep.3_Silent_p.F278F|HIPK1_uc001eeq.3_5'Flank NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTCTGGATTCCCTGTGAGGA 0.438000 81 25 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40050216 40050216 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:40050216G>A uc002xka.1 - 30 5237 c.5059C>T c.(5059-5061)Cag>Tag p.Q1687* NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 1687 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) ATGACATCCTGAACTTTAGAA 0.418000 48 19 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149497433 149497433 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:149497433C>T uc010lpk.3 + 48 7182 c.7182C>T c.(7180-7182)ccC>ccT p.P2394P NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 2397 LDL-receptor class A 9. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCAGACGCCCTGTGAGGTGC 0.687000 26 6 0 0 1 0 0 MMP28 79148 broad.mit.edu 37 17 34106267 34106267 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:34106267G>A uc002hjy.1 - 1 431 c.172C>T c.(172-174)Cga>Tga p.R58* MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Nonsense_Mutation_p.R58* NM_024302 NP_077278 Q9H239 MMP28_HUMAN Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA. 58 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5) 16 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TCGCTGAATCGAGTGGAGGTG 0.542000 9 8 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629378 9629378 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:9629378C>T uc003jem.1 - 0 1086 c.767G>A c.(766-768)aGg>aAg p.R256K NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA. 256 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AAAGATGAACCTTCTGATGTG 0.388000 53 11 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77242566 77242566 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:77242566G>A uc001xst.2 + 4 1792 c.862G>A c.(862-864)Gat>Aat p.D288N NM_014909 NP_055724 Q7L8A9 VASH1_HUMAN Homo sapiens vasohibin 1 (VASH1), mRNA. 288 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CCTGGGCCGCGATGACTTCCG 0.701000 16 3 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10401121 10401121 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10401121A>G uc002gmo.3 - 30 4389 c.4295T>C c.(4294-4296)cTc>cCc p.L1432P AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1432 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATCAATCATGAGGTCCTCAAC 0.468000 21 47 0 0 1 0 0 BC039356 0 broad.mit.edu 37 1 227618273 227618273 + RNA SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:227618273T>A uc001hqv.3 + 3 c.1508T>A Homo sapiens cDNA clone IMAGE:5270051. CTGCGAGTACTCAACACCAGC 0.522000 29 18 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17548858 17548858 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:17548858C>T uc001mnf.3 - 4 517 c.408G>A c.(406-408)cgG>cgA p.R136R USH1C_uc001mne.3_Silent_p.R136R|USH1C_uc009yhb.3_Silent_p.R136R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.R100R NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA. 136 PDZ 1. G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding p.R136Q(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ATCCATTGATCCGGACGATCT 0.557000 35 15 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73745120 73745120 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:73745120G>A uc002jpg.3 + 26 3497 c.3310G>A c.(3310-3312)Gac>Aac p.D1104N ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1104 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCATCAGGGACCCAGGTAG 0.617000 31 10 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2706605 2706605 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:2706605C>T uc009zdu.1 + 21 3169 c.2856C>T c.(2854-2856)atC>atT p.I952I CACNA1C_uc001qkc.2_Silent_p.I932I|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Silent_p.I932I|CACNA1C_uc001qkf.2_Silent_p.I932I|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Silent_p.I952I|CACNA1C_uc001qkj.2_Intron|CACNA1C_uc001qkk.2_Intron|CACNA1C_uc001qkn.2_Silent_p.I932I|CACNA1C_uc001qkm.2_Intron|CACNA1C_uc001qko.2_Silent_p.I952I|CACNA1C_uc001qkp.2_Silent_p.I932I|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Silent_p.I932I|CACNA1C_uc001qkr.2_Silent_p.I932I|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Silent_p.I932I|CACNA1C_uc001qka.1_Silent_p.I467I|CACNA1C_uc001qki.1_Intron NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 952 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.P952P(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTTTTCAGATCCTAGGCAATG 0.443000 29 11 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11996051 11996051 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:11996051C>T uc003wvc.1 - 0 219 c.219G>A c.(217-219)agG>agA p.R73R LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA. 73 G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CAGCAGGTCTCCTGCTACTCA 0.572000 103 17 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089294 43089295 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:43089294_43089295CC>TT uc003bdb.3 - 2 924_925 c.663_664GG>AA c.(661-666)ctggcc>ctAAcc p.A222T A4GALT_uc021wqo.1_Missense_Mutation_p.A222T|A4GALT_uc021wqp.1_Missense_Mutation_p.A222T|A4GALT_uc010gzd.3_Missense_Mutation_p.A222T|A4GALT_uc021wqq.1_Missense_Mutation_p.A222T NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA. 222 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 CGCTCGAAGGCCAGGAACGCGC 0.629000 36 15 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481595 140481595 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140481595C>T uc003lio.3 + 0 1362 c.1362C>T c.(1360-1362)atC>atT p.I454I BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 454 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCACCCAAATCTCCTACACCC 0.582000 139 32 0 0 1 0 0 UCN3 114131 broad.mit.edu 37 10 5415859 5415859 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:5415859T>C uc001ihx.1 + 1 400 c.176T>C c.(175-177)tTc>tCc p.F59S NM_053049 NP_444277 Q969E3 UCN3_HUMAN Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA. 59 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 AAGAGGAGCTTCCACTACCTG 0.597000 21 9 0 0 1 0 0 TBX10 347853 broad.mit.edu 37 11 67402307 67402307 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:67402307G>A uc001omp.3 - 2 445 c.357C>T c.(355-357)ccC>ccT p.P119P NM_005995 NP_005986 O75333 TBX10_HUMAN Homo sapiens T-box 10 (TBX10), mRNA. 119 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TGTCGTCCAGGGGGATGAAGT 0.627000 51 13 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951203 119951203 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:119951203G>A uc010inb.3 + 3 1469 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K SYNPO2_uc010ina.3_Missense_Mutation_p.E425K|SYNPO2_uc003icm.4_Missense_Mutation_p.E425K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E353K|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 425 Poly-Glu. Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGACGAGGAGGAAGAAGGTGA 0.507000 36 17 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34626240 34626240 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:34626240G>A uc010qej.2 - 16 2862 c.2532C>T c.(2530-2532)ttC>ttT p.F844F PARD3_uc010qep.2_Intron|PARD3_uc010qeq.2_Silent_p.F784F|PARD3_uc010qek.2_Silent_p.F841F|PARD3_uc010qel.2_Silent_p.F844F|PARD3_uc010qem.2_Silent_p.F828F|PARD3_uc010qen.2_Intron|PARD3_uc010qeo.2_Intron|PARD3_uc001ixo.2_Silent_p.F558F|PARD3_uc001ixr.2_Silent_p.F841F|PARD3_uc001ixq.2_Intron|PARD3_uc001ixp.2_Intron|PARD3_uc001ixt.1_Silent_p.F662F|PARD3_uc001ixu.2_Silent_p.F787F|PARD3_uc001ixs.1_Intron NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 844 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GTGTTTTAACGAAATCCAATT 0.338000 21 3 0 0 1 0 0 ORC5 5001 broad.mit.edu 37 7 103824604 103824604 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:103824604G>A uc003vcb.3 - 6 843 c.700C>T c.(700-702)Cct>Tct p.P234S ORC5_uc011klp.2_Missense_Mutation_p.P102S|ORC5_uc003vcc.3_Missense_Mutation_p.P234S NM_002553 NP_002544 O43913 ORC5_HUMAN Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA. 234 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 cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 CAATATTTAGGAAAATTAAGT 0.264000 6 3 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229776 7229776 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:7229776C>T uc003mxb.3 + 9 1936 c.1444C>T c.(1444-1446)Cct>Tct p.P482S RREB1_uc021yky.1_Missense_Mutation_p.P482S|RREB1_uc003mxc.3_Missense_Mutation_p.P482S|RREB1_uc010jnx.3_Missense_Mutation_p.P482S|RREB1_uc021ykz.1_Missense_Mutation_p.P482S|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 482 Pro-rich. Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CTCGGCTCCCCCTCAGATCAG 0.617000 321 86 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94712050 94712051 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:94712050_94712051CC>TT uc010qnr.2 + 15 1628_1629 c.1485_1486CC>TT c.(1483-1488)ttcccc>ttTTcc p.P496S EXOC6_uc001kie.3_Missense_Mutation_p.P475S|EXOC6_uc001kig.3_Missense_Mutation_p.P480S|EXOC6_uc009xub.3_Missense_Mutation_p.P479S|EXOC6_uc009xuc.3_Missense_Mutation_p.P377S|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.P54S NM_001013848 NP_001013870 Q8TAG9 EXOC6_HUMAN Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA. 480 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) CAAAGAAATTCCCCATGTCTCA 0.302000 38 5 0 0 1 0 0 C9orf71 169693 broad.mit.edu 37 9 71152295 71152295 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:71152295C>T uc004agt.3 - 1 446 c.393G>A c.(391-393)ctG>ctA p.L131L AK130904_uc004ags.1_Non-coding_Transcript NM_153237 NP_694969 Q8N6L7 CI071_HUMAN Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA. 131 integral to membrane endometrium(1)|lung(2)|prostate(1) 4 CCTGGAATTCCAGGCCCGTCT 0.552000 24 17 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15728902 15728902 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:15728902C>T uc002nbi.3 + 2 354 c.290C>T c.(289-291)cCc>cTc p.P97L CYP4F8_uc010xoi.1_Missense_Mutation_p.P97L|CYP4F8_uc010xoj.2_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 97 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 CCCATCACTCCCATCATCAAC 0.587000 51 25 0 0 1 0 0 PEF1 553115 broad.mit.edu 37 1 32096337 32096337 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:32096337G>A uc001bth.2 - 4 1105 c.732C>T c.(730-732)atC>atT p.I244I HCRTR1_uc010ogl.2_Intron|PEF1_uc021okp.1_Silent_p.I174I|PEF1_uc021okq.1_Silent_p.I109I|PEF1_uc001bte.1_3'UTR NM_012392 NP_036524 Q9UBV8 PEF1_HUMAN Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA. 244 EF-hand 4.|Required for interaction with PDCD6. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1) 7 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) TGCACACCTGGATGAAGCGGT 0.597000 24 17 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94667336 94667336 + Silent SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:94667336T>C uc001dqj.4 - 11 1590 c.1221A>G c.(1219-1221)aaA>aaG p.K407K ARHGAP29_uc009wdq.1_Non-coding_Transcript NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 407 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) AAATTTCTCTTTTGGTATTTT 0.323000 27 6 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170345741 170345741 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:170345741C>T uc003mba.3 + 9 1121 c.979C>T c.(979-981)Cat>Tat p.H327Y RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN Homo sapiens RAN binding protein 17 (RANBP17), mRNA. 327 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGTAATTATCATGAATTTTG 0.333000 T TRD@ ALL 24 11 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109782128 109782128 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:109782128C>T uc021xqo.1 - 22 1254 c.1198_splice c.e22-1 p.G400_splice COL25A1_uc003hze.1_Splice_Site_p.G400_splice|COL25A1_uc021xqp.1_Splice_Site_p.G400_splice|COL25A1_uc003hzg.3_Splice_Site_p.G400_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G166_splice NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA. 400 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CACGATCCCCCTTTTCCCGTT 0.433000 17 5 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192273810 192273810 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:192273810C>T uc010fsg.2 + 25 2927 c.2672C>T c.(2671-2673)tCc>tTc p.S891F MYO1B_uc002usq.2_Missense_Mutation_p.S833F|MYO1B_uc002usr.2_Missense_Mutation_p.S891F|MYO1B_uc002usu.2_Missense_Mutation_p.S136F NM_001130158 NP_001155291 O43795 MYO1B_HUMAN Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA. 891 myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.F890fs*47(1) NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AAGATGCCTTCCTTATCTCCA 0.363000 25 15 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106774313 106774313 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:106774313C>T uc021ser.1 - 682 c.18532G>A Parts of antibodies, mostly variable regions. TTCAATGAGGCTCCAGGCTTC 0.552000 9 11 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149152511 149152511 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:149152511G>A uc003wfv.3 - 1 766 c.603C>T c.(601-603)gcC>gcT p.A201A NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TCATGGCCTGGGCCTCCAGCT 0.602000 79 61 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154841609 154841609 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:154841609C>T uc021pah.1 - 0 1146 c.832G>A c.(832-834)Gaa>Aaa p.E278K KCNN3_uc001ffp.3_Missense_Mutation_p.E278K|KCNN3_uc009wox.1_Missense_Mutation_p.E278K NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 283 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TTTCTCTTTTCAAACAGGGCC 0.493000 64 24 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115973216 115973216 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:115973216C>T uc001lbg.1 + 14 2096 c.1943C>T c.(1942-1944)tCc>tTc p.S648F TDRD1_uc001lbf.3_Missense_Mutation_p.S582F|TDRD1_uc001lbh.1_Missense_Mutation_p.S639F|TDRD1_uc001lbi.1_Missense_Mutation_p.S639F|TDRD1_uc010qsc.2_Missense_Mutation_p.S252F|TDRD1_uc001lbj.3_Missense_Mutation_p.S357F NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 648 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GAAAACAGTTCCCTGGTGGAG 0.418000 34 32 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64222231 64222231 + Missense_Mutation SNP G A A rs55645281 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:64222231G>A uc002jfn.4 - 2 312 c.253C>T c.(253-255)Cct>Tct p.P85S NM_000042 NP_000033 P02749 APOH_HUMAN Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA. 85 Sushi 2. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CCAGCAAAAGGACATACTCTG 0.318000 54 10 0 0 1 0 0 GRAP2 9402 broad.mit.edu 37 22 40364148 40364148 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:40364148G>A uc003ayh.2 + 5 825 c.562G>A c.(562-564)Gat>Aat p.D188N GRAP2_uc011aom.2_Missense_Mutation_p.D162N|GRAP2_uc011aon.2_Missense_Mutation_p.D122N|GRAP2_uc010gya.2_Missense_Mutation_p.D188N|GRAP2_uc011aoo.2_Missense_Mutation_p.D116N|GRAP2_uc011aop.2_Missense_Mutation_p.D148N|GRAP2_uc011aoq.2_Missense_Mutation_p.D75N|GRAP2_uc003ayj.2_Missense_Mutation_p.D188N NM_004810 NP_004801 O75791 GRAP2_HUMAN Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA. 188 Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GAAGCTGTCGGATCACCCCCC 0.672000 26 8 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 59445710 59445710 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:59445710C>T uc002iyv.4 + 23 2602 c.2493C>T c.(2491-2493)acC>acT p.T831T BCAS3_uc002iyu.4_Silent_p.T816T|BCAS3_uc002iyw.4_Silent_p.T812T|BCAS3_uc002iyy.4_Silent_p.T587T|BCAS3_uc002iyz.4_Silent_p.T385T|BCAS3_uc002iza.4_Silent_p.T370T|BCAS3_uc002izb.4_Non-coding_Transcript|BCAS3_uc002izc.4_Non-coding_Transcript NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 831 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GGAGCGTGACCCTGCTGGAGG 0.642000 152 21 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7530854 7530854 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:7530854G>A uc001mfi.3 + 2 1151 c.644G>A c.(643-645)gGa>gAa p.G215E OLFML1_uc010raz.2_Missense_Mutation_p.G79E|OLFML1_uc010rba.2_Missense_Mutation_p.G215E NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN Homo sapiens olfactomedin-like 1 (OLFML1), mRNA. 215 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TCCTGGCAGGGAACAGGCCAA 0.418000 29 29 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183493851 183493851 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:183493851C>T uc003fly.2 + 17 2712 c.2517C>T c.(2515-2517)ggC>ggT p.G839G YEATS2_uc003flz.3_5'UTR NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 839 Gly-rich. histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTACTGCTGGCCCTGGAGGGA 0.537000 27 10 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17085865 17085865 + Missense_Mutation SNP A G G rs1057378 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:17085865A>G uc010ock.2 - 7 956 c.956T>C c.(955-957)cTc>cCc p.L319P CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. p.L319P(2)|p.L309P(2) breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 TGAGCCGTCGAGGTTCCAGCA 0.667000 29 4 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187927 32187927 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:32187927C>T uc003obb.3 - 6 1433 c.1294G>A c.(1294-1296)Gac>Aac p.D432N NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.D432N NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 432 EGF-like 11; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCGTCCAGGTCCTGGTGGCAG 0.612000 41 27 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4870250 4870250 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:4870250G>A uc001qne.1 + 6 1392 c.1300G>A c.(1300-1302)Gaa>Aaa p.E434K NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 434 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GCGAGTGGCCGAAATCTGGAT 0.527000 42 15 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21427614 21427614 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:21427614G>A uc002kuq.3 + 31 4204 c.4118G>A c.(4117-4119)cGg>cAg p.R1373Q LAMA3_uc002kur.3_Missense_Mutation_p.R1373Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1373 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGTGTGACCGGGACAGCGGG 0.622000 12 8 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629276 1629276 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:1629276G>A uc001ltw.1 - 0 418 c.340C>T c.(340-342)Cgt>Tgt p.R114C MOB2_uc001ltq.2_Intron NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA. 114 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GAGCCCCCACGAAATCCACAG 0.652000 84 65 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26517248 26517248 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:26517248C>T uc010oez.2 + 0 130 c.130C>T c.(130-132)Ccc>Tcc p.P44S CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.3_Non-coding_Transcript NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA. 44 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CCGCCCCTCTCCCCTGCAGAG 0.617000 21 10 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81229049 81229049 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:81229049G>A uc002bfw.1 + 22 3304 c.3044G>A c.(3043-3045)cGa>cAa p.R1015Q KIAA1199_uc010unn.1_Missense_Mutation_p.R1015Q NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 1015 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AGTAACCTGCGAATGAAGATC 0.478000 104 29 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125148982 125148982 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:125148982G>A uc004bmg.1 + 8 1402 c.1267G>A c.(1267-1269)Gat>Aat p.D423N PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.D314N|PTGS1_uc011lyt.1_Missense_Mutation_p.D314N NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 423 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) GGCCCTGGTGGATGCCTTCTC 0.592000 46 7 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76249582 76249582 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:76249582C>T uc010ask.2 + 26 3012 c.2737C>T c.(2737-2739)Cat>Tat p.H913Y TTLL5_uc001xrx.3_Missense_Mutation_p.H899Y|TTLL5_uc001xrz.3_Missense_Mutation_p.H474Y|TTLL5_uc001xsa.3_5'UTR|TTLL5_uc001xry.1_Non-coding_Transcript NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA. 899 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TCCCAACACCCATTTGTCATC 0.443000 71 19 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18741636 18741636 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:18741636C>T uc009yht.2 - 5 683 c.493G>A c.(493-495)Gac>Aac p.D165N IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 165 Lys-rich. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTTTTGAAGTCCATTTTCTCT 0.517000 37 9 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62542648 62542648 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:62542648C>T uc010ihh.3 + 2 547 c.374C>T c.(373-375)cCt>cTt p.P125L LPHN3_uc003hcq.4_Missense_Mutation_p.P125L|LPHN3_uc010ihg.1_Missense_Mutation_p.P193L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 125 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GAATGTGTCCCTTACAGTATG 0.383000 99 25 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089977 9089977 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9089977C>T uc002mkp.3 - 0 2042 c.1838G>A c.(1837-1839)gGa>gAa p.G613E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 613 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 GCTGCTGCCTCCTGTCATTGA 0.542000 24 14 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356617 52356617 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:52356617C>T uc002abp.3 + 5 2380 c.1586C>T c.(1585-1587)tCc>tTc p.S529F NM_002748 NP_002739 Q16659 MK06_HUMAN Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA. 529 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) GATTTTGATTCCTTTATTGCA 0.403000 23 5 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7285598 7285598 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7285598C>T uc001qss.3 + 0 617 c.79C>T c.(79-81)Cct>Tct p.P27S CLSTN3_uc001qsr.3_Intron NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 0 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TGCTTCCTCTCCTCTCCCTGG 0.567000 10 14 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163360988 163360988 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:163360988C>T uc002uch.2 - 5 1322 c.1093G>A c.(1093-1095)Gat>Aat p.D365N KCNH7_uc002uci.3_Missense_Mutation_p.D358N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 365 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TGTGTTCGATCTTTAACCTTG 0.373000 66 26 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60887333 60887333 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:60887333G>A uc002ycq.3 - 68 9467 c.9400C>T c.(9400-9402)Cgc>Tgc p.R3134C LAMA5_uc021wfw.1_Missense_Mutation_p.R3134C NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 3134 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCGCCAGGCGAAGGAAGCCG 0.682000 6 9 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180050984 180050984 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:180050984G>A uc003mlz.4 - 10 1578 c.1499C>T c.(1498-1500)cCc>cTc p.P500L FLT4_uc003mma.4_Missense_Mutation_p.P500L|FLT4_uc003mmb.1_Missense_Mutation_p.P33L|FLT4_uc011dgy.2_Missense_Mutation_p.P500L NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 500 Ig-like C2-type 5. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.P500P(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCTCTCGATGGGGTTCACGGC 0.637000 51 15 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 432368 432368 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:432368G>A uc001qif.1 - 15 2518 c.2155C>T c.(2155-2157)Cgc>Tgc p.R719C KDM5A_uc010sdn.1_Missense_Mutation_p.R678C NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 719 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 AATGGGTAGCGATATCTACaa 0.318000 T NUP98 AML 7 8 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17697867 17697867 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:17697867C>T uc002grm.3 + 2 2074 c.1605C>T c.(1603-1605)gcC>gcT p.A535A RAI1_uc002grn.1_Silent_p.A535A NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 535 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) GCAACCAGGCCCGTGGCAGCC 0.642000 12 15 0 0 1 0 0 TMEM154 201799 broad.mit.edu 37 4 153573855 153573855 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:153573855G>T uc003imw.2 - 1 521 c.289C>A c.(289-291)Ctt>Att p.L97I NM_152680 NP_689893 Q6P9G4 TM154_HUMAN Homo sapiens transmembrane protein 154 (TMEM154), mRNA. 97 integral to membrane kidney(2)|large_intestine(1) 3 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TATGTTGCAAGGAATACCACG 0.318000 29 9 0.000274275 0.000275406 1 1 0 CTAGE1 64693 broad.mit.edu 37 18 19997356 19997356 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:19997356G>A uc002ktv.1 - 0 523 c.419C>T c.(418-420)tCc>tTc p.S140F NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 140 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TATCCTTTTGGAAATATCCGC 0.358000 58 24 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245202 46245202 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:46245202C>T uc003cph.1 - 1 674 c.603G>A c.(601-603)ctG>ctA p.L201L CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.L201L NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 201 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGTTCAGTTTCAGAGCCTGAA 0.448000 48 23 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123267166 123267166 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:123267166G>A uc003vku.1 + 8 992 c.700G>A c.(700-702)Ggt>Agt p.G234S ASB15_uc003vkv.1_Missense_Mutation_p.G234S|ASB15_uc003vkw.1_Missense_Mutation_p.G234S NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 234 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ACTGCCAGGTGGTGATGTGCT 0.517000 49 38 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48453106 48453106 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48453106G>T uc002iqs.2 + 1 619 c.537G>T c.(535-537)caG>caT p.Q179H MRPL27_uc002iqq.3_5'Flank|MRPL27_uc002iqr.2_5'Flank|EME1_uc010dbp.2_Missense_Mutation_p.Q179H NM_152463 NP_689676 Q96AY2 EME1_HUMAN Homo sapiens essential meiotic endonuclease 1 homolog 1 (S. pombe) (EME1), transcript variant 2, mRNA. 179 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) GCCCTGGCCAGAGCAGCAGCT 0.532000 Direct reversal of damage;Homologous recombination 67 20 1.01871e-10 1.03056e-10 1 1 0 BSN 8927 broad.mit.edu 37 3 49662653 49662654 + Missense_Mutation DNP CC TT TT rs150855300 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49662653_49662654CC>TT uc003cxe.4 + 1 584_585 c.470_471CC>TT c.(469-471)tcc>tTT p.S157F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 157 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCACCCTACTCCGTCCCTCAGA 0.634000 45 13 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62265765 62265765 + Silent SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:62265765A>C uc002jed.3 - 4 2359 c.2208T>G c.(2206-2208)ccT>ccG p.P736P TEX2_uc002jec.3_Silent_p.P729P|TEX2_uc002jee.3_Silent_p.P729P NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN Homo sapiens testis expressed 2 (TEX2), mRNA. 729 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TGCTGTGTGCAGGCAAAAGCC 0.537000 66 20 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135469957 135469957 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:135469957C>T uc004ezu.1 + 15 8126 c.7835C>T c.(7834-7836)tCa>tTa p.S2612L GPR112_uc010nsb.1_Missense_Mutation_p.S2407L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2612 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTGCCTAAATCACTGACGGAG 0.388000 58 28 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39226565 39226565 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:39226565G>A uc003cjk.2 - 1 4601 c.4372C>T c.(4372-4374)Cct>Tct p.P1458S XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P141S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1458S NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1458 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGCTCTCAGGGGCCCCTTGG 0.632000 72 62 0 0 1 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458949 45458949 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:45458949C>T uc001rol.3 - 0 c.246G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TTCACTCAGTCTCTGCTTTTA 0.438000 21 5 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20363728 20363728 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:20363728C>T uc002gxa.1 - 1 133 c.68G>A c.(67-69)gGg>gAg p.G23E LGALS9B_uc002gwz.1_Missense_Mutation_p.G23E|LGALS9B_uc010vzh.1_Intron NM_001042685 NP_001036150 Q3B8N2 LEG9B_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA. 23 Galectin 1. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 CTGGAGACCCCCTTGGATAGT 0.577000 32 39 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893723 16893723 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:16893723G>A uc009vos.1 - 24 3678 c.2790C>T c.(2788-2790)gcC>gcT p.A930A NBPF1_uc009vot.1_Silent_p.A388A|NBPF1_uc001ayz.1_Silent_p.A388A|NBPF1_uc010oce.1_Silent_p.A659A NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 930 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ATATGTAAAAGGCACTTCTGT 0.463000 815 24 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77894282 77894282 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:77894282C>T uc002lnw.3 + 3 1441 c.986C>T c.(985-987)tCc>tTc p.S329F NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 329 Pro-rich. cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCTGGCCAATCCCACATGACT 0.637000 41 21 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27758942 27758942 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:27758942G>A uc003cdy.3 - 5 1737 c.1737C>T c.(1735-1737)gcC>gcT p.A579A EOMES_uc003cdx.3_Silent_p.A560A|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Silent_p.A284A NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 560 Required for transcription activation (By similarity). CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 AATACCCCAGGGCATGGGATG 0.502000 43 14 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49039343 49039343 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:49039343C>T uc001vcb.3 + 22 2494 c.2328C>T c.(2326-2328)ccC>ccT p.P776P NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 776 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCTCTAGCCCCCTACCTTGT 0.403000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 63 21 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38691476 38691476 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:38691476C>T uc003gth.4 + 3 1003 c.671C>T c.(670-672)tCc>tTc p.S224F KLF3_uc003gtg.2_Missense_Mutation_p.S224F NM_016531 NP_057615 P57682 KLF3_HUMAN Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA. 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AACTCAGTGTCCCCCCCGCAA 0.423000 65 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083224 9083224 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9083224G>A uc002mkp.3 - 0 8795 c.8591C>T c.(8590-8592)tCt>tTt p.S2864F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2864 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 TGAGGAGGCAGAGACAGGTGT 0.527000 12 4 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152883933 152883933 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152883933G>A uc021ozl.1 + 0 1660 c.1660G>A c.(1660-1662)Gac>Aac p.D554N IVL_uc001fau.3_Missense_Mutation_p.D554N NM_005547 NP_005538 P07476 INVO_HUMAN Homo sapiens involucrin (IVL), mRNA. 554 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAGGTCCAAGACATTCAACC 0.572000 33 32 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117252545 117252545 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:117252545G>A uc003pxm.3 + 18 2726 c.2663G>A c.(2662-2664)gGa>gAa p.G888E NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 888 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTATGTATGGAACTTCCAAC 0.408000 34 18 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124273726 124273726 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:124273726G>A uc001lgj.2 + 8 1422 c.1294G>A c.(1294-1296)Gac>Aac p.D432N NM_002775 NP_002766 Q92743 HTRA1_HUMAN Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA. 432 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) CAAGGAAAACGACGTCATAAT 0.502000 191 46 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70955013 70955013 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:70955013C>T uc002ezr.3 - 45 7414 c.7263G>A c.(7261-7263)agG>agA p.R2421R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2422 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CGCCCATGTTCCTTTTCTTCT 0.483000 38 17 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87913481 87913481 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:87913481C>T uc022agz.1 - 2 327 c.104G>A c.(103-105)gGa>gAa p.G35E STEAP4_uc003ujs.3_Missense_Mutation_p.G35E|STEAP4_uc010lek.3_Missense_Mutation_p.G35E NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 35 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CATTTTCAATCCCAGTGATCT 0.413000 55 11 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71010396 71010396 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:71010396G>A uc001jpf.4 + 11 1957 c.1824G>A c.(1822-1824)atG>atA p.M608I HKDC1_uc010qje.2_Missense_Mutation_p.M471I NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 608 Glucose-binding (Potential). glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GCAGGCAGATGAGCATTGACA 0.567000 77 20 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141755813 141755813 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:141755813C>T uc003vwy.3 + 28 3551 c.3497C>T c.(3496-3498)tCc>tTc p.S1166F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1166 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.S1166F(2) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AAGAAGAATTCCTATGGTGTC 0.498000 12 4 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204588349 204588349 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:204588349C>T uc021phy.1 - 0 772 c.772G>A c.(772-774)Gaa>Aaa p.E258K MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.E258K|LRRN2_uc001hbf.1_Missense_Mutation_p.E258K|LRRN2_uc009xbf.1_Missense_Mutation_p.E258K|MDM4_uc001hbc.3_Intron NM_201630 NP_963924 O75325 LRRN2_HUMAN Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA. 258 cell adhesion integral to membrane receptor activity p.L257L(3) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCACCTGTTCCAGTGCCCGC 0.637000 51 24 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19449389 19449390 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:19449389_19449390GG>AA uc001bbi.3 - 65 9757_9758 c.9753_9754CC>TT c.(9751-9756)ctccgg>ctTTgg p.R3252W UBR4_uc001bbk.1_Missense_Mutation_p.R899W NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3252 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACACTTGCCCGGAGGAATATCC 0.589000 46 27 0 0 1 0 0 WRAP73 49856 broad.mit.edu 37 1 3551793 3551793 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:3551793G>A uc001ako.3 - 6 777 c.669C>T c.(667-669)tcC>tcT p.S223S WRAP73_uc001akn.3_Silent_p.S223S|WRAP73_uc010nzi.2_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA. 223 centrosome protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1) 12 TGATGCCCAGGGACCACTCGT 0.517000 47 10 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2147900 2147900 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:2147900G>A uc002cos.1 - 30 10345 c.10136C>T c.(10135-10137)tCc>tTc p.S3379F TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S3379F|PKD1_uc010bse.1_Non-coding_Transcript NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 3379 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CGTGAGGAAGGAGCTGTCCAG 0.682000 15 9 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111927084 111927084 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:111927084C>T uc003dyu.3 - 15 2149 c.1927G>A c.(1927-1929)Gaa>Aaa p.E643K SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.E595K NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 643 Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TGTTTTAATTCGCTGTGGTAG 0.303000 57 49 0 0 1 0 0 TAGLN2 8407 broad.mit.edu 37 1 159888595 159888595 + Missense_Mutation SNP G A A rs11556957 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:159888595G>A uc001fun.1 - 4 668 c.595C>T c.(595-597)Ctc>Ttc p.L199F NM_003564 NP_003555 P37802 TAGL2_HUMAN Homo sapiens transgelin 2 (TAGLN2), mRNA. 199 muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGGATCAGAGGATCTGGCGT 0.562000 81 36 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159163685 159163685 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:159163685T>A uc001ftl.2 + 4 725 c.546T>A c.(544-546)gaT>gaA p.D182E CADM3_uc009wsy.1_Missense_Mutation_p.D182E|CADM3_uc001ftk.2_Missense_Mutation_p.D216E NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA. 182 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TACAGGAAGATCCCAATGGTA 0.493000 22 16 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182394344 182394344 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:182394344C>T uc002unu.3 + 22 3270 c.2507C>T c.(2506-2508)aCt>aTt p.T836I ITGA4_uc002unv.3_Missense_Mutation_p.T81I NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 836 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGCCCCCAAACTGATAAGCTG 0.328000 25 14 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 313370 313370 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:313370C>T uc002cgf.3 + 8 1276 c.1081C>T c.(1081-1083)Cgc>Tgc p.R361C LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Non-coding_Transcript|ITFG3_uc002cgg.2_Missense_Mutation_p.R361C|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Missense_Mutation_p.R361C NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA. 361 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GCTGACGCCTCGCTGGACACC 0.652000 51 10 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25243716 25243716 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:25243716G>A uc003abg.2 + 3 412 c.255G>A c.(253-255)gaG>gaA p.E85E SGSM1_uc010guu.1_Silent_p.E85E|SGSM1_uc003abh.2_Silent_p.E85E|SGSM1_uc003abj.2_Silent_p.E85E|SGSM1_uc003abi.1_Silent_p.E60E|SGSM1_uc003abf.2_Silent_p.E85E NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 85 RUN. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CGCCGGCTGAGGATCTGAGCC 0.612000 23 7 0 0 1 0 0 FOPNL 123811 broad.mit.edu 37 16 15967478 15967478 + Silent SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:15967478A>T uc002dec.1 - 3 323 c.318T>A c.(316-318)ctT>ctA p.L106L FOPNL_uc002ded.1_Intron NM_144600 NP_653201 Q96NB1 FOPNL_HUMAN Homo sapiens FGFR1OP N-terminal like (FOPNL), mRNA. 106 cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding breast(1)|large_intestine(1)|lung(5)|stomach(4) 11 TCCCATATAAAAGAGGTCTAT 0.378000 14 24 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42065859 42065860 + Missense_Mutation DNP GG AT AT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:42065859_42065860GG>AT uc011kbh.2 - 7 1271_1272 c.1180_1181CC>AT c.(1180-1182)cca>ATa p.P394I GLI3_uc011kbg.2_Missense_Mutation_p.P335I NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 394 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 AGGGATCCCTGGAATAGGCCTC 0.589000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 15 3 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13923469 13923469 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13923469C>T uc003jfd.2 - 3 400 c.358G>A c.(358-360)Gat>Aat p.D120N DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 120 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D120N(2) 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) AGAGCCACATCGTTTCCCTCG 0.458000 Kartagener syndrome 155 37 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179564869 179564869 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:179564869G>A uc010pnp.2 + 3 1265 c.747G>A c.(745-747)ccG>ccA p.P249P TDRD5_uc021pfm.1_Silent_p.P249P|TDRD5_uc001gnf.2_Silent_p.P249P|TDRD5_uc021pfn.1_Silent_p.P249P NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 249 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGGAACCACCGAAGCAAATAA 0.398000 60 29 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64679749 64679749 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:64679749C>T uc021qzu.1 - 6 1205 c.1205G>A c.(1204-1206)aGg>aAg p.R402K BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.R242K|C12orf56_uc001srz.3_5'UTR|C12orf56_uc001sry.3_5'UTR NM_001170633 NP_001164104 Q8IXR9 CL056_HUMAN Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA. 405 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) CTCATCAACCCTTTGGCTTTG 0.358000 12 5 0 0 1 0 0 NODAL 4838 broad.mit.edu 37 10 72195290 72195291 + Nonsense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:72195290_72195291CC>TT uc001jrc.2 - 1 684_685 c.642_643GG>AA c.(640-645)tgggaa>tgAAaa p.214_215WE>*K NM_018055 NP_060525 Q96S42 NODAL_HUMAN Homo sapiens nodal homolog (mouse) (NODAL), mRNA. 214 growth extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 15 CTCTCGGCTTCCCACAGCAAGG 0.649000 33 12 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11725359 11725359 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:11725359C>T uc002gne.3 + 45 8898 c.8830C>T c.(8830-8832)Cgg>Tgg p.R2944W DNAH9_uc010coo.3_Missense_Mutation_p.R2238W NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2944 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTTTATAGATCGGATCCGGCG 0.463000 17 17 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27069111 27069111 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:27069111G>A uc001rhk.4 - 10 1609 c.1072C>T c.(1072-1074)Cgt>Tgt p.R358C ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.R257C NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA. 358 cell division|mitosis|regulation of mitotic cell cycle protein binding AAAACAGAACGACCTGTCAAA 0.343000 16 4 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153648589 153648589 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:153648589C>T uc010nuy.3 + 7 697 c.697C>T c.(697-699)Ccc>Tcc p.P233S TAZ_uc004fkx.3_Missense_Mutation_p.P229S|TAZ_uc004fky.3_Missense_Mutation_p.P215S|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.P199S|TAZ_uc004flb.3_Missense_Mutation_p.P185S|TAZ_uc004flc.4_Missense_Mutation_p.P199S NM_181312 NP_851829 Q16635 TAZ_HUMAN Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 229 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCTACTTCCCCCGCTTTGG 0.622000 115 123 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36430377 36430377 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:36430377C>T uc002oco.3 + 1 502 c.50C>T c.(49-51)tCa>tTa p.S17L NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. 17 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCCTGCCTCATCCCCACCC 0.706000 51 10 0 0 1 0 0 KPNA3 3839 broad.mit.edu 37 13 50279880 50279880 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:50279880A>C uc001vdj.2 - 14 1664 c.1249T>G c.(1249-1251)Tgt>Ggt p.C417G NM_002267 NP_002258 O00505 IMA3_HUMAN Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA. 417 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) AGTAAATTACAGAACGGTGGT 0.363000 38 22 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39262714 39262714 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:39262714G>A uc003awl.3 - 4 802 c.739C>T c.(739-741)Ccc>Tcc p.P247S NM_014292 NP_055107 O95503 CBX6_HUMAN Homo sapiens chromobox homolog 6 (CBX6), mRNA. 247 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GCCTTGCCGGGGGACGGGGCT 0.716000 73 28 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272554 158272554 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:158272554G>A uc002tzj.1 - 7 787 c.715C>T c.(715-717)Cga>Tga p.R239* CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133* NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 239 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 CTGGATAATCGATTCCGGTCC 0.542000 14 22 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643027 1643027 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:1643027C>T uc009ycy.1 - 1 279 c.192G>A c.(190-192)ggG>ggA p.G64G MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 159 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCACAGCCCCCCTTGGAAC 0.682000 125 19 0 0 1 0 0 ANP32AP1 723972 broad.mit.edu 37 15 35529790 35529790 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:35529790G>A uc001ziy.3 + 0 c.264G>A Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA. AAAAGTGTCCGAACCTCACGC 0.423000 64 21 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61945215 61945215 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:61945215C>T uc011aau.2 + 17 2430 c.2330C>T c.(2329-2331)cCc>cTc p.P777L COL20A1_uc011aav.2_Missense_Mutation_p.P598L NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 777 Fibronectin type-III 6. 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) ACCTACGCCCCCGCCTCTGGC 0.677000 2 12 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10781728 10781728 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:10781728C>T uc001mja.3 + 5 750 c.601C>T c.(601-603)Cgt>Tgt p.R201C NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 201 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AGCGGAAGTTCGTTTAGGAAT 0.378000 49 13 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9791260 9791260 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:9791260G>A uc002gmd.1 + 11 1296 c.1296G>A c.(1294-1296)gtG>gtA p.V432V NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 432 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GGTTCCTGGTGGCCTTGCAGT 0.512000 91 37 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8732742 8732742 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:8732742C>T uc001mgt.3 - 9 2395 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K ST5_uc009yfr.3_Missense_Mutation_p.E317K|ST5_uc001mgu.3_Missense_Mutation_p.E317K|ST5_uc001mgv.3_Missense_Mutation_p.E737K|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Missense_Mutation_p.E250K|ST5_uc009yfs.3_Non-coding_Transcript NM_213618 NP_998783 P78524 ST5_HUMAN Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA. 737 UDENN. positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTGAGCCTTTCCTCTGCCTCT 0.592000 49 19 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6001834 6001834 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:6001834G>A uc002meb.3 - 14 2120 c.1851C>T c.(1849-1851)tcC>tcT p.S617S RFX2_uc002mec.3_Silent_p.S592S NM_000635 NP_000626 P48378 RFX2_HUMAN Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA. 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 ACCTGTAAAAGGACCATTTCA 0.622000 30 13 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22268607 22268607 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:22268607C>T uc002dki.3 + 7 1287 c.802C>T c.(802-804)Cat>Tat p.H268Y EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 268 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GCGTTCCGGCCATCAGCTGAT 0.567000 45 42 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321651 79321651 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:79321651C>T uc010mpk.3 - 7 5663 c.5539G>A c.(5539-5541)Gag>Aag p.E1847K PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1669K NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1847 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCAGACAGCTCCCTTTCAAAT 0.493000 3 7 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57839469 57839469 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:57839469G>A uc003hck.3 - 2 1435 c.1360C>T c.(1360-1362)Ccc>Tcc p.P454S NM_032313 NP_115689 Q8NC60 CD014_HUMAN Homo sapiens nitric oxide associated 1 (NOA1), mRNA. 454 GTP binding AACTCAAAGGGAATGTTATCC 0.368000 99 26 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72366312 72366312 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:72366312C>T uc009zrw.1 + 5 763 c.622C>T c.(622-624)Ccc>Tcc p.P208S TPH2_uc001swy.2_Missense_Mutation_p.P118S NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 208 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) TCAGCCCATTCCCAGGGTGGA 0.423000 140 87 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607890 68607890 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:68607890C>T uc002sen.4 + 2 396 c.234C>T c.(232-234)gaC>gaT p.D78D PLEK_uc010fde.3_Silent_p.D78D NM_002664 NP_002655 P08567 PLEK_HUMAN Homo sapiens pleckstrin (PLEK), mRNA. 78 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AACAGCAGGACCACTTCTTCC 0.473000 30 45 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660973 8660973 + Missense_Mutation SNP T A A rs142981402 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:8660973T>A uc002mkj.1 - 10 1595 c.1321A>T c.(1321-1323)Atc>Ttc p.I441F ADAMTS10_uc002mkk.1_Missense_Mutation_p.I73F NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 441 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AAGCTGGTGATGTAGTCACGG 0.582000 51 21 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186570649 186570649 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:186570649G>A uc003iyg.3 - 7 831 c.799C>T c.(799-801)Cga>Tga p.R267* SORBS2_uc003iyh.3_Nonsense_Mutation_p.R360*|SORBS2_uc011ckw.2_Nonsense_Mutation_p.R250*|SORBS2_uc003iyi.3_Nonsense_Mutation_p.R267*|SORBS2_uc011ckx.2_Nonsense_Mutation_p.R227*|SORBS2_uc003iyk.3_Nonsense_Mutation_p.R252*|SORBS2_uc003iym.3_Nonsense_Mutation_p.R281*|SORBS2_uc003iyl.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iyn.1_Nonsense_Mutation_p.R227*|SORBS2_uc011cky.1_Nonsense_Mutation_p.R244*|SORBS2_uc011cku.2_Nonsense_Mutation_p.R100*|SORBS2_uc011ckv.2_Nonsense_Mutation_p.R85*|SORBS2_uc003iyd.3_Nonsense_Mutation_p.R360*|SORBS2_uc003iye.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iya.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iyb.3_Nonsense_Mutation_p.R181*|SORBS2_uc003iyc.3_Nonsense_Mutation_p.R166*|SORBS2_uc003iyf.3_Nonsense_Mutation_p.R244*|SORBS2_uc003iyo.1_Nonsense_Mutation_p.R85* NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 181 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCTCTTGGTCGAAGCGGCGGG 0.517000 19 3 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215960037 215960037 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:215960037C>T uc001hku.1 - 51 10749 c.10362G>A c.(10360-10362)ggG>ggA p.G3454G NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3454 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T3453R(1)|p.G3454W(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTTTACACTCCCTGTATGAA 0.438000 HNSCC(13;0.011) 25 22 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19447784 19447784 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:19447784G>A uc001bbi.3 - 67 10044 c.10040C>T c.(10039-10041)tCc>tTc p.S3347F UBR4_uc001bbk.1_Missense_Mutation_p.S994F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3347 Ser-rich. interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGCTGAGGAGGAAGAAGCACT 0.547000 39 12 0 0 1 0 0 RIC3 79608 broad.mit.edu 37 11 8161563 8161563 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:8161563G>A uc010rbm.1 - 1 356 c.302C>T c.(301-303)cCa>cTa p.P101L RIC3_uc001mgb.2_5'Flank|RIC3_uc010rbl.1_Missense_Mutation_p.P51L|RIC3_uc001mgd.2_Missense_Mutation_p.P101L|RIC3_uc001mgc.2_Missense_Mutation_p.P101L|RIC3_uc009yfm.2_Missense_Mutation_p.P101L|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Intron|RIC3_uc001mgf.4_Missense_Mutation_p.P101L NM_024557 NP_001193600 Q7Z5B4 RIC3_HUMAN Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA. 101 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) ACCGTAGATTGGAATAATCTG 0.408000 56 18 0 0 1 0 0 TBC1D13 54662 broad.mit.edu 37 9 131568238 131568238 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:131568238C>T uc010myj.3 + 9 1142 c.1019C>T c.(1018-1020)tCc>tTc p.S340F TBC1D13_uc010myk.3_Missense_Mutation_p.S215F|TBC1D13_uc010myl.3_Missense_Mutation_p.S159F NM_018201 NP_060671 Q9NVG8 TBC13_HUMAN Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA. 340 Rab-GAP TBC. intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 6 ATCTGGGACTCCCTCTTCGCC 0.582000 34 15 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161681097 161681098 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:161681097_161681098CC>TT uc001gbe.3 + 3 643_644 c.401_402CC>TT c.(400-402)acc>aTT p.T134I FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.T128I|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron NM_001184866 NP_001171795 Q7L513 FCRLA_HUMAN Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA. 111 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) ACTCAGGTGACCTTCTACCGAG 0.599000 37 23 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117350 117350 + RNA SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrGL000205.1:117350C>A uc002kgk.4 + 0 c.728C>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGCCACCTGGCCTTCTGTGAG 0.577000 39 9 1.12685e-05 1.13337e-05 1 1 0 MDC1 9656 broad.mit.edu 37 6 30671610 30671610 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:30671610G>A uc003nrg.4 - 9 5790 c.5350C>T c.(5350-5352)Cat>Tat p.H1784Y MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.H1391Y NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 1784 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGGGAGGCATGAATTGGTGTC 0.552000 Other conserved DNA damage response genes 84 16 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65046208 65046208 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:65046208C>T uc001odj.3 + 5 801 c.469C>T c.(469-471)Ccc>Tcc p.P157S POLA2_uc009yqf.1_Missense_Mutation_p.P157S|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.3_5'Flank NM_002689 NP_002680 Q14181 DPOA2_HUMAN Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA. 157 Pro/Ser/Thr-rich. 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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TAGTGCTACTCCCTCCCAGAA 0.448000 97 41 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13714589 13714589 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13714589C>T uc003jfd.2 - 74 13092 c.13050G>A c.(13048-13050)gaG>gaA p.E4350E DNAH5_uc003jfc.2_Silent_p.E518E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4350 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D4349Y(1) 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) CCTCCCGGGTCTCATCCCCTC 0.572000 Kartagener syndrome 72 24 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035878 37035878 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:37035878C>T uc002rpl.3 + 14 1955 c.1653C>T c.(1651-1653)gcC>gcT p.A551A VIT_uc002rpm.3_Silent_p.A536A|VIT_uc010ezv.3_Silent_p.A514A|VIT_uc010ezw.3_Silent_p.A515A NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN Homo sapiens vitrin (VIT), transcript variant 1, mRNA. 536 VWFA 2. proteinaceous extracellular matrix p.G550G(1) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GCATCGGGGCCGTGCAGTACA 0.582000 31 17 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283244 152283244 + Missense_Mutation SNP A G G rs140909774 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152283244A>G uc001ezu.1 - 2 4154 c.4118T>C c.(4117-4119)aTt>aCt p.I1373T AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1373 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGTGCCCAATGCCTGAGTG 0.542000 Ichthyosis 255 151 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31656706 31656706 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:31656706C>T uc002wym.1 + 9 1076 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NM_182658 NP_872599 P59826 LPLC3_HUMAN Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA. 359 innate immune response cytoplasm|extracellular region lipid binding|protein binding GCCTTGGTCTCCCTCCCAGCC 0.607000 50 21 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36681241 36681241 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:36681241G>A uc003apg.3 - 37 5640 c.5409C>T c.(5407-5409)tcC>tcT p.S1803S NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 1803 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTTGTACTTGGACTTGACAG 0.607000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 47 28 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18703305 18703305 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:18703305C>T uc001bau.2 + 7 1496 c.1113C>T c.(1111-1113)ttC>ttT p.F371F IGSF21_uc001bav.2_Silent_p.F192F NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 371 Ig-like 2. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACGAAGTCTTCCCGGAGCCCA 0.672000 42 24 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49169835 49169835 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:49169835G>A uc001rsh.4 - 7 2377 c.1717C>T c.(1717-1719)Cgg>Tgg p.R573W ADCY6_uc001rsi.4_Missense_Mutation_p.R573W|ADCY6_uc001rsj.4_Missense_Mutation_p.R573W|ADCY6_uc010slw.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 573 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GAGTTGGCCCGAGTCCGCTGC 0.652000 17 5 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40094426 40094426 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:40094426C>T uc001zkj.1 - 2 1321 c.455G>A c.(454-456)aGg>aAg p.R152K GPR176_uc010uck.1_Missense_Mutation_p.R92K NM_007223 NP_009154 Q14439 GP176_HUMAN Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA. 152 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) AGATATTTTCCTCTCCAGTGG 0.443000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 11 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40059813 40059813 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:40059813C>T uc003ayc.3 + 18 3564 c.3564C>T c.(3562-3564)gcC>gcT p.A1188A CACNA1I_uc003ayd.3_Silent_p.A1153A|CACNA1I_uc003aye.3_Silent_p.A1103A|CACNA1I_uc003ayf.3_Silent_p.A1068A NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 1188 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCACCATCGCCCTGGAGCGGC 0.627000 207 29 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49617959 49617959 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:49617959C>T uc001jgp.3 + 2 339 c.290C>T c.(289-291)tCc>tTc p.S97F MAPK8_uc001jgn.3_Missense_Mutation_p.S97F|MAPK8_uc001jgm.3_Missense_Mutation_p.S97F|MAPK8_uc001jgo.3_Missense_Mutation_p.S97F|MAPK8_uc001jgq.3_Missense_Mutation_p.S97F|MAPK8_uc009xoa.3_Missense_Mutation_p.S97F|MAPK8_uc021ppy.1_Missense_Mutation_p.S97F|MAPK8_uc010qgk.2_Missense_Mutation_p.S97F NM_139049 NP_620637 P45983 MK08_HUMAN Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA. 97 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCACAGAAATCCCTAGAAGAA 0.284000 27 6 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250618 18250618 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:18250618C>T uc001ipo.2 + 2 643 c.370C>T c.(370-372)Cat>Tat p.H124Y SLC39A12_uc001ipn.2_Missense_Mutation_p.H124Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.H124Y|SLC39A12_uc010qck.1_5'UTR NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA. 124 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.H124Q(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 TTACATTATTCATCAGGAAGA 0.388000 40 8 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38486081 38486081 + Splice_Site SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:38486081A>G uc010ive.1 - 17 2668 c.2336_splice c.e17-1 p.G779_splice LIFR_uc003jli.2_Splice_Site_p.G779_splice NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 779 Fibronectin type-III 6. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGTCAGAACGACCTATTTTTA 0.398000 T PLAG1 salivary adenoma 42 5 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104375782 104375782 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:104375782G>A uc004bbp.2 - 5 3243 c.2642C>T c.(2641-2643)tCt>tTt p.S881F GRIN3A_uc004bbq.1_Missense_Mutation_p.S881F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 881 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) GGTCAATGGAGAGTTGGGTGG 0.458000 27 9 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5485230 5485230 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:5485230C>T uc002gci.3 - 2 1156 c.601G>A c.(601-603)Gct>Act p.A201T NLRP1_uc002gcg.1_Missense_Mutation_p.A201T|NLRP1_uc002gch.4_Missense_Mutation_p.A201T|NLRP1_uc002gck.3_Missense_Mutation_p.A201T|NLRP1_uc002gcj.3_Missense_Mutation_p.A201T|NLRP1_uc002gcl.3_Missense_Mutation_p.A201T|NLRP1_uc010clh.3_Missense_Mutation_p.A201T NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 201 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GTCCCAGGAGCCTCCTGCTCT 0.617000 49 13 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892567 22892567 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:22892567G>A uc002zwf.3 - 3 690 c.534C>T c.(532-534)ctC>ctT p.L178L abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Silent_p.L162L|PRAME_uc010gtr.3_Silent_p.L178L|PRAME_uc002zwg.3_Silent_p.L178L|PRAME_uc002zwh.3_Silent_p.L178L|PRAME_uc002zwi.3_Silent_p.L178L|PRAME_uc002zwj.3_Silent_p.L178L|PRAME_uc002zwk.3_Silent_p.L178L NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 178 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 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) ACAGGTCTACGAGCACCTCTA 0.478000 42 51 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088270 17088270 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:17088270G>A uc002nfb.3 - 14 1839 c.1807C>T c.(1807-1809)Ctt>Ttt p.L603F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 556 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGGCGACCAAGGGGGACCATG 0.582000 27 16 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127737999 127737999 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:127737999G>A uc001ljk.2 - 15 2162 c.1749C>T c.(1747-1749)atC>atT p.I583I ADAM12_uc010qul.1_Silent_p.I534I|ADAM12_uc001ljm.3_Silent_p.I583I|ADAM12_uc001ljn.3_Silent_p.I580I|ADAM12_uc001ljl.4_Silent_p.I580I NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 583 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTTGACACTGGATTTTTCCAC 0.502000 42 34 0 0 1 0 0 UIMC1 51720 broad.mit.edu 37 5 176395857 176395857 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:176395857A>G uc021yil.1 - 5 1066 c.899T>C c.(898-900)tTg>tCg p.L300S UIMC1_uc021yim.1_Missense_Mutation_p.L300S|UIMC1_uc021yin.1_Missense_Mutation_p.L300S|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA. 300 AIR. G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex K63-linked polyubiquitin binding|histone binding NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 21 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATAAACCTCCAACTGGCAGAG 0.478000 37 11 0 0 1 0 0 IZUMO4 113177 broad.mit.edu 37 19 2097455 2097455 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:2097455C>T uc002luw.1 + 2 408 c.331C>T c.(331-333)Cgg>Tgg p.R111W IZUMO4_uc002lux.1_Missense_Mutation_p.R111W|IZUMO4_uc010xgw.1_Missense_Mutation_p.R111W NM_001039846 NP_001034935 Q1ZYL8 IZUM4_HUMAN Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3, mRNA. 111 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 6 AAACATCTTCCGGGAGCAGGT 0.637000 OREG0025135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 6 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271019 1271019 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:1271019G>A uc001lta.3 + 30 12968 c.12909G>A c.(12907-12909)agG>agA p.R4303R NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4303 23 X approximate tandem repeats, Ser/Thr- rich.|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) CCAGTCCAAGGACTGCAACCA 0.632000 116 52 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307287 39307287 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:39307287G>A uc021wwc.1 - 1 850 c.810C>T c.(808-810)atC>atT p.I270I CX3CR1_uc021wwa.1_Silent_p.I238I|CX3CR1_uc021wwb.1_Silent_p.I238I|CX3CR1_uc003cjl.3_Silent_p.I238I|CX3CR1_uc021wwd.1_Silent_p.I238I NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 238 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity p.I238I(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GGAAAAACACGATGACCACCA 0.428000 28 35 0 0 1 0 0 LACE1 246269 broad.mit.edu 37 6 108768474 108768474 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:108768474C>T uc003psj.3 + 7 1051 c.865C>T c.(865-867)Cct>Tct p.P289S NM_145315 NP_660358 Q8WV93 LACE1_HUMAN Homo sapiens lactation elevated 1 (LACE1), mRNA. 289 ATP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AAGGGAACTTCCTGCTGCAGG 0.328000 11 14 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23563520 23563520 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:23563520C>T uc002dlu.3 - 1 277 c.245G>A c.(244-246)cGc>cAc p.R82H EARS2_uc002dlr.4_5'Flank|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Missense_Mutation_p.R82H NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 82 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|RNA binding|glutamate-tRNA ligase activity central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) AGGCACAACGCGAGTCTGATC 0.547000 64 17 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216256814 216256814 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:216256814C>T uc001hku.1 - 25 5669 c.5282G>A c.(5281-5283)gGa>gAa p.G1761E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1761 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAATCAGGTCCATCTTTGTT 0.294000 HNSCC(13;0.011) 57 7 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519829 113519829 + Missense_Mutation SNP C T T rs145814266 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:113519829C>T uc010ljy.1 - 3 1349 c.1318G>A c.(1318-1320)Gat>Aat p.D440N NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 440 glycogen metabolic process integral to membrane p.D440N(2)|p.D439G(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTAGCATTATCATCCAGGACT 0.418000 67 42 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198691586 198691586 + Silent SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:198691586T>A uc001gur.1 + 14 1875 c.1695T>A c.(1693-1695)atT>atA p.I565I PTPRC_uc001gut.1_Silent_p.I404I|PTPRC_uc009wzf.1_Silent_p.I453I|PTPRC_uc021pgy.1_Silent_p.I519I|PTPRC_uc010ppg.1_Silent_p.I501I NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 565 Fibronectin type-III 2. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AACCCTTTATTTTACATCATT 0.234000 45 10 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149627 18149627 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:18149627C>T uc001bat.3 + 1 340 c.124C>T c.(124-126)Cct>Tct p.P42S NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 42 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CAAGGAGAACCCTGGCCCCAG 0.597000 55 37 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457212 6457212 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:6457212G>A uc001qnw.3 - 11 2278 c.2014C>T c.(2014-2016)Cct>Tct p.P672S SCNN1A_uc001qnv.3_Missense_Mutation_p.P313S|SCNN1A_uc001qnx.3_Missense_Mutation_p.P613S|SCNN1A_uc010sfb.2_Missense_Mutation_p.P636S NM_001159576 NP_001029 P37088 SCNNA_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA. 613 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) tgggaaggaggggaggatgcc 0.652000 12 5 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853249 70853249 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:70853249C>T uc003tvy.3 + 2 451 c.451C>T c.(451-453)Ctg>Ttg p.L151L WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 151 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTCCAAGGACCTGCCCCAGAT 0.542000 59 9 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584466 1584466 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:1584466C>T uc022brv.1 - 0 986 c.986G>A c.(985-987)aGg>aAg p.R329K CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.R329K NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA. 329 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(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) GGACGTGGTCCTGGCGGAGAA 0.697000 T CRLF2 """B-ALL, Downs associated ALL""" 41 44 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899960 156899960 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156899960C>T uc003lwx.4 + 5 1509 c.1393C>T c.(1393-1395)Cat>Tat p.H465Y ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.H446Y NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA. 465 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 ATTTATAATCCATTCCTGAAG 0.438000 39 12 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189868786 189868786 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:189868786C>T uc002uqj.1 + 38 2857 c.2740C>T c.(2740-2742)Cct>Tct p.P914S NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 914 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.P914T(2) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CACTGGTGCTCCTGGCAGCCC 0.567000 17 7 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49958758 49958758 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:49958758C>T uc004dow.1 - 4 730 c.606G>A c.(604-606)caG>caA p.Q202Q AKAP4_uc004dou.1_Silent_p.Q193Q|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.Q24Q NM_003886 NP_647450 Q5JQC9 AKAP4_HUMAN Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA. 202 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding p.Q202H(2) NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TGACTGCTCTCTGAGTGCTAG 0.443000 23 90 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94770903 94770903 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:94770903C>T uc001ycv.3 - 4 1174 c.1070G>A c.(1069-1071)gGt>gAt p.G357D SERPINA6_uc010auv.3_Non-coding_Transcript NM_001756 NP_001747 P08185 CBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA. 357 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGTGTCCACACCCTCCTCATT 0.517000 10 17 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35070273 35070274 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:35070273_35070274CC>TT uc003jjm.3 - 6 1196_1197 c.637_638GG>AA c.(637-639)gga>AAa p.G213K PRLR_uc003jjk.1_Missense_Mutation_p.G142K|PRLR_uc003jjg.2_Missense_Mutation_p.G213K|PRLR_uc003jjh.2_Missense_Mutation_p.G213K|PRLR_uc003jji.2_Missense_Mutation_p.G142K|PRLR_uc003jjj.2_Missense_Mutation_p.G213K|PRLR_uc003jjl.4_Missense_Mutation_p.G112K|PRLR_uc021xxl.1_Missense_Mutation_p.G213K|PRLR_uc010iuw.1_Missense_Mutation_p.G142K NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 213 Fibronectin type-III 2. T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACTCCAGTATCCATGGTCTGGT 0.446000 38 11 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36997697 36997697 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:36997697C>T uc002xic.1 + 9 1075 c.1040C>T c.(1039-1041)cCg>cTg p.P347L NM_004139 NP_004130 P18428 LBP_HUMAN Homo sapiens lipopolysaccharide binding protein (LBP), mRNA. 347 Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CCCTCTGCTCCGCTCCTGAAC 0.522000 148 26 0 0 1 0 0 SRM 6723 broad.mit.edu 37 1 11115918 11115918 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:11115918G>A uc001arz.1 - 5 776 c.685C>T c.(685-687)Ccc>Tcc p.P229S NM_003132 NP_003123 P19623 SPEE_HUMAN Homo sapiens spermidine synthase (SRM), mRNA. 229 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) GCCACCACGGGGAACAGGGAC 0.647000 15 6 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123664681 123664681 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:123664681T>C uc021xrm.1 + 2 2015 c.1634T>C c.(1633-1635)tTg>tCg p.L545S BBS12_uc003ieu.3_Missense_Mutation_p.L545S|BBS12_uc021xrn.1_Missense_Mutation_p.L545S NM_001178007 NP_689831 Q6ZW61 BBS12_HUMAN Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA. 545 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 GTTGAATTTTTGTGTCTTAGC 0.418000 Bardet-Biedl syndrome 50 28 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151604815 151604815 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:151604815G>A uc010ipj.3 - 36 6053 c.5809C>T c.(5809-5811)Cat>Tat p.H1937Y LRBA_uc003ilt.4_Missense_Mutation_p.H596Y|LRBA_uc003ilu.4_Missense_Mutation_p.H1937Y NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 1937 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTTATCAAATGATCACACATC 0.378000 22 16 0 0 1 0 0 PHYHIPL 84457 broad.mit.edu 37 10 61005156 61005156 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:61005156C>T uc001jkk.4 + 4 1202 c.936C>T c.(934-936)acC>acT p.T312T PHYHIPL_uc001jkl.4_Silent_p.T266T|PHYHIPL_uc001jkm.4_Silent_p.T286T NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA. 312 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 AATTTTTGACCTGTACAGAAG 0.428000 22 21 0 0 1 0 0 MND1 84057 broad.mit.edu 37 4 154271221 154271221 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:154271221G>A uc003ink.2 + 1 98 c.9G>A c.(7-9)aaG>aaA p.K3K MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_Silent_p.K3K NM_032117 NP_115493 Q9BWT6 MND1_HUMAN Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA. 3 DNA recombination|meiosis nucleus DNA binding large_intestine(2)|lung(1) 3 all_hematologic(180;0.093) TTTAGTCAAAGAAAAAAGGAC 0.279000 27 9 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73987679 73987680 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:73987679_73987680CC>TT uc021rwe.1 - 3 1293_1294 c.945_946GG>AA c.(943-948)gaggat>gaAAat p.D316N HEATR4_uc021rwf.1_Missense_Mutation_p.D269N|HEATR4_uc010tub.1_Missense_Mutation_p.D316N NM_001220484 NP_001207413 Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA. breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCATGGATATCCTCAGTGCTCT 0.530000 39 17 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56057802 56057802 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:56057802C>T uc010rje.2 - 0 737 c.737G>A c.(736-738)gGa>gAa p.G246E NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G246A(2)|p.G246*(1) 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) GATGGTGACTCCCAAGAGATG 0.358000 42 15 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109325077 109325077 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:109325077C>T uc001dvy.3 + 9 918 c.843C>T c.(841-843)atC>atT p.I281I NM_007269 NP_009200 O00186 STXB3_HUMAN Homo sapiens syntaxin binding protein 3 (STXBP3), mRNA. 281 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) AGGAGGCCATCCTTGAAGAAG 0.323000 52 13 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19486765 19486765 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:19486765G>A uc001bbi.3 - 38 5421 c.5417C>T c.(5416-5418)tCc>tTc p.S1806F UBR4_uc001bbm.1_Missense_Mutation_p.S1017F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 1806 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGGAGCGAAGGAGAAATTGGC 0.403000 19 11 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812792 38812792 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:38812792C>T uc003ciq.3 - 3 577 c.577G>A c.(577-579)Gat>Aat p.D193N NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 193 sensory perception voltage-gated sodium channel complex p.D193Y(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACGCTAAAATCCAGCCAGTTC 0.448000 61 26 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112585891 112585891 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:112585891C>T uc001ttp.3 + 7 1027 c.941C>T c.(940-942)cCt>cTt p.P314L TRAFD1_uc001tto.3_Missense_Mutation_p.P314L|TRAFD1_uc010syj.1_Non-coding_Transcript NM_006700 NP_006691 O14545 TRAD1_HUMAN Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA. 314 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 AGCTGTAACCCTTCACGTGCC 0.403000 20 8 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940670 113940670 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:113940670G>A uc002tjc.3 + 1 820 c.637G>A c.(637-639)Gaa>Aaa p.E213K PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.E212K|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 213 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity p.G212V(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGACTCAGGGGAAGACAGCAG 0.632000 13 26 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216604 149216604 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:149216604C>T uc003lrc.3 + 7 2677 c.2586C>T c.(2584-2586)caC>caT p.H862H PPARGC1B_uc003lrb.2_Silent_p.H862H|PPARGC1B_uc003lrd.3_Silent_p.H823H|PPARGC1B_uc021yfr.1_Silent_p.H798H|PPARGC1B_uc003lre.1_Silent_p.H841H|PPARGC1B_uc003lrf.3_Silent_p.H841H NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 862 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CACCCTGCCACTCCTGGTCAC 0.642000 96 80 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56047462 56047462 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:56047462G>A uc010ygc.2 - 1 215 c.200C>T c.(199-201)cCc>cTc p.P67L NM_001101401 NP_001094871 P0C263 SBK2_HUMAN Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA. 67 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CTGGCCCAGGGGACGCACTTC 0.672000 17 8 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128270 6128270 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:6128270G>A uc001qnn.1 - 27 4564 c.4314C>T c.(4312-4314)ttC>ttT p.F1438F VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 1438 VWFA 1; binding site for platelet glycoprotein Ib. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TGCTCAGCACGAAGGCCTTGT 0.592000 68 24 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151499454 151499454 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:151499454C>T uc009wmw.3 + 9 1911 c.1767C>T c.(1765-1767)ctC>ctT p.L589L NM_020770 NP_065821 Q9P2M7 CING_HUMAN Homo sapiens cingulin (CGN), mRNA. 583 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGCTCAGACTCCTGCAGCTGC 0.537000 22 15 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49700806 49700806 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49700806G>A uc003cxe.4 + 6 11329 c.11215G>A c.(11215-11217)Gca>Aca p.A3739T NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3739 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCAGTCAAAGGCAGAACCCCA 0.632000 76 26 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46494544 46494544 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:46494544G>A uc001cov.3 + 17 2440 c.2157G>A c.(2155-2157)ctG>ctA p.L719L MAST2_uc001cow.3_Silent_p.L719L|MAST2_uc001coy.1_Silent_p.L393L|MAST2_uc001coz.1_Silent_p.L604L|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 719 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) ATGAGTTCCTGGTGGGCTGCG 0.582000 125 132 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62989974 62989974 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:62989974C>T uc002alb.4 + 11 1380 c.1380C>T c.(1378-1380)tcC>tcT p.S460S NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 460 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCTCGGGCTCCAGCGGGCCTG 0.662000 73 13 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266381 43266382 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:43266381_43266382GG>AA uc021yzt.1 + 0 384_385 c.285_286GG>AA c.(283-288)ggggaa>ggAAaa p.E96K SLC22A7_uc010jyl.1_Missense_Mutation_p.E96K|SLC22A7_uc003ous.3_Missense_Mutation_p.E96K|SLC22A7_uc003out.3_Missense_Mutation_p.E96K NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 96 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CCACGTTGGGGGAAGAAAGGCA 0.619000 27 7 0 0 1 0 0 PHF19 26147 broad.mit.edu 37 9 123628356 123628356 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:123628356G>A uc004bks.1 - 7 982 c.729C>T c.(727-729)tgC>tgT p.C243C PHF19_uc011lyf.1_Silent_p.C34C|PHF19_uc004bkr.2_Non-coding_Transcript NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA. 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TACACACGGAGCAGAAGAACA 0.617000 44 14 0 0 1 0 0 CIB1 10519 broad.mit.edu 37 15 90774220 90774220 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:90774220G>A uc002bpb.4 - 5 662 c.500C>T c.(499-501)aCc>aTc p.T167I NM_006384 NP_006375 Q99828 CIB1_HUMAN Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA. 167 EF-hand 2. apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GAGGTTGATGGTTCCATCCCT 0.577000 180 13 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139158265 139158266 + Missense_Mutation DNP CT TC TC TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:139158265_139158266CT>TC uc003yuy.3 - 14 3647_3648 c.3476_3477AG>GA c.(3475-3477)aag>aGA p.K1159R FAM135B_uc003yux.3_Missense_Mutation_p.K1060R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.K721R|FAM135B_uc003yvb.3_Missense_Mutation_p.D687N NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1159 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTATGAAAGTCTTTACCAGCCG 0.441000 HNSCC(54;0.14) 36 10 0 0 1 0 0 KRT222 125113 broad.mit.edu 37 17 38816459 38816459 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:38816459C>T uc002hvc.2 - 3 291 c.226_splice c.e3-1 p.E76_splice KRT222_uc002hvb.2_Splice_Site_p.E36_splice|KRT222_uc010cxc.3_Splice_Site_p.E36_splice NM_152349 NP_689562 Q8N1A0 KT222_HUMAN Homo sapiens keratin 222 (KRT222), mRNA. 76 intermediate filament structural molecule activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1) 15 AGGCCCCTTTCCTGTTTTATA 0.383000 51 37 0 0 1 0 0 KIAA0913 23053 broad.mit.edu 37 10 75550803 75550803 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:75550803C>T uc001jvj.3 + 7 1267 c.1012C>T c.(1012-1014)Cct>Tct p.P338S KIAA0913_uc001jve.3_Missense_Mutation_p.P338S|KIAA0913_uc009xrl.3_Missense_Mutation_p.P338S|KIAA0913_uc001jvf.3_Missense_Mutation_p.P338S|KIAA0913_uc001jvh.3_5'Flank|KIAA0913_uc001jvi.3_5'Flank|KIAA0913_uc010qkr.2_5'Flank NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 338 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) TCTGCTGCGCCCTCTGAGGGG 0.562000 58 19 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36172462 36172462 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:36172462C>T uc003olv.4 + 2 1700 c.1476C>T c.(1474-1476)tcC>tcT p.S492S BRPF3_uc010jwb.3_Silent_p.S492S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.S492S NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 492 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GTGGTCTCTCCTTTCAGAGGA 0.517000 99 13 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4157164 4157164 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:4157164C>T uc002lzl.3 + 2 445 c.329C>T c.(328-330)cCc>cTc p.P110L CREB3L3_uc002lzm.3_Missense_Mutation_p.P100L|CREB3L3_uc010xib.2_Missense_Mutation_p.P101L|CREB3L3_uc010xic.2_Missense_Mutation_p.P101L NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 110 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GCCACCTCCCCCGCCGGCTGC 0.662000 50 21 0 0 1 0 0 C20orf132 140699 broad.mit.edu 37 20 35742522 35742522 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:35742522G>A uc010zvu.2 - 20 2653 c.2562C>T c.(2560-2562)tcC>tcT p.S854S C20orf132_uc002xgk.3_Silent_p.S486S NM_152503 NP_689716 Q9H579 CT132_HUMAN Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA. 0 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(115;0.00878) AGAGAGTCACGGAGAAACGAT 0.478000 15 9 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6733920 6733920 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:6733920G>A uc002mfp.3 - 6 600 c.554C>T c.(553-555)cCt>cTt p.P185L GPR108_uc010duv.3_5'Flank NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA. 185 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CTTCCCACTAGGACCCTGAAG 0.627000 OREG0025092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 19 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72063167 72063167 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:72063167C>T uc021rkj.1 - 6 2113 c.1690G>A c.(1690-1692)Gga>Aga p.G564R DACH1_uc021rkk.1_Missense_Mutation_p.G416R|DACH1_uc021rkl.1_Missense_Mutation_p.G362R NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 614 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.D563N(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GAAGACAGTCCATCAGGAAAC 0.438000 87 45 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52573735 52573735 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:52573735C>T uc001jjj.3 - 9 1417 c.1229G>A c.(1228-1230)gGa>gAa p.G410E A1CF_uc010qho.2_Missense_Mutation_p.G418E|A1CF_uc010qhn.2_Missense_Mutation_p.G410E|A1CF_uc009xov.3_Missense_Mutation_p.G402E|A1CF_uc001jji.3_Missense_Mutation_p.G402E|A1CF_uc001jjh.3_Missense_Mutation_p.G410E NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 410 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GACCTGGTATCCTCGACCCAG 0.493000 57 21 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725577 158725577 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158725577G>A uc001fsw.1 + 0 972 c.972G>A c.(970-972)atG>atA p.M324I NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA. 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) ACAAGGACATGAAAGAGGCTA 0.453000 83 15 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158585182 158585182 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158585182C>T uc001fst.1 - 47 6811 c.6612G>A c.(6610-6612)aaG>aaA p.K2204K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2204 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTGGATCTCCTTCTGTTTTC 0.458000 100 34 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55386809 55386809 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55386809C>T uc002qhr.1 + 1 255 c.58C>T c.(58-60)Cag>Tag p.Q20* FCAR_uc021vbp.1_Intron|FCAR_uc002qhq.3_Nonsense_Mutation_p.Q20*|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Nonsense_Mutation_p.Q20*|FCAR_uc002qhv.1_Nonsense_Mutation_p.Q20*|FCAR_uc002qhw.1_Intron|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 20 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CCAGAGGATTCAGGCACAGGA 0.453000 60 31 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29275232 29275232 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:29275232G>A uc011dln.2 + 0 766 c.766G>A c.(766-768)Gag>Aag p.E256K NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TGCAGGCTTTGAGTTTCTCAG 0.478000 106 52 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47593093 47593093 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:47593093C>T uc003gxk.1 + 22 4140 c.3976C>T c.(3976-3978)Cca>Tca p.P1326S ATP10D_uc003gxl.1_Missense_Mutation_p.P574S NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 1326 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ATCCCTGTTTCCATCTCCAAT 0.443000 57 13 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76499039 76499039 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:76499039C>T uc010dhp.2 - 31 5136 c.5011G>A c.(5011-5013)Gaa>Aaa p.E1671K AK127460_uc002jvt.1_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTGGGATTTCGTGCCGGAGG 0.647000 65 13 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92459540 92459540 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:92459540C>T uc002bqx.2 + 1 699 c.498C>T c.(496-498)atC>atT p.I166I SLCO3A1_uc002bqy.2_Silent_p.I166I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I108I NM_013272 NP_037404 Q9UIG8 SO3A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA. 166 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) CCGACCTCATCTGCCGCAACC 0.697000 15 14 0 0 1 0 0 C5orf46 389336 broad.mit.edu 37 5 147281206 147281206 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:147281206G>A uc010jgp.3 - 1 238 c.201C>T c.(199-201)tcC>tcT p.S67S C5orf46_uc003lou.3_Silent_p.S67S|C5orf46_uc003lov.4_Silent_p.S67S NM_206966 NP_996849 Q6UWT4 CE046_HUMAN Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA. 67 extracellular region NS(1)|lung(1)|prostate(1) 3 TCCTGGACATGGAGCGGAGGA 0.473000 32 7 0 0 1 0 0 CDK1 983 broad.mit.edu 37 10 62544606 62544606 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:62544606C>T uc001jld.3 + 2 323 c.181C>T c.(181-183)Cca>Tca p.P61S CDK1_uc010qii.2_Missense_Mutation_p.P61S|CDK1_uc021prh.1_Missense_Mutation_p.P61S|CDK1_uc001jlg.3_Missense_Mutation_p.P61S|CDK1_uc001jle.3_Non-coding_Transcript NM_001786 NP_001777 P06493 CDK1_HUMAN Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA. 61 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity ovary(1) 1 ACTTCGTCATCCAAATATAGT 0.338000 57 10 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524858 26524858 + Missense_Mutation SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:26524858C>G uc010oez.2 + 5 760 c.760C>G c.(760-762)Ctc>Gtc p.L254V CATSPER4_uc010oey.1_Missense_Mutation_p.L76V|CATSPER4_uc009vsf.3_Non-coding_Transcript NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA. 254 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity p.L254L(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GCTGTACACCCTCTTCATCTG 0.527000 227 26 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653655 159653655 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:159653655G>A uc010kjv.3 + 10 2311 c.2111G>A c.(2110-2112)gGg>gAg p.G704E FNDC1_uc010kjw.1_Missense_Mutation_p.G589E NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 704 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCCCATTCAGGGGCCGCAGAG 0.682000 11 13 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7640083 7640083 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7640083C>T uc001qsz.3 - 7 2050 c.1922G>A c.(1921-1923)gGa>gAa p.G641E CD163_uc001qta.3_Missense_Mutation_p.G641E|CD163_uc009zfw.2_Missense_Mutation_p.G674E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 641 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.K640E(1) 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 CTGACCATTTCCTTTTCCAAA 0.478000 61 14 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136594257 136594257 + Silent SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:136594257G>T uc002tuu.1 - 0 494 c.483C>A c.(481-483)tcC>tcA p.S161S NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 161 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTCCCCGAAGGAGTGGAAGG 0.577000 24 5 3.59834e-05 3.61616e-05 1 1 0 RNASEL 6041 broad.mit.edu 37 1 182551259 182551259 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:182551259G>A uc009wxz.2 - 3 1958 c.1701C>T c.(1699-1701)ttC>ttT p.F567F RNASEL_uc001gpk.3_Silent_p.F567F|RNASEL_uc009wya.1_3'UTR NM_021133 NP_066956 Q05823 RN5A_HUMAN Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA. 567 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CCCCAGGATGGAAGAGACGAT 0.468000 87 53 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30227862 30227862 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:30227862G>A uc002wwj.1 + 2 284 c.209G>A c.(208-210)gGa>gAa p.G70E NM_032609 NP_115998 Q96KJ9 COX42_HUMAN Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA. 70 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) AAGGAGAAGGGAAGCTGGACC 0.587000 21 16 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312187 99312187 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:99312187C>T uc003uru.3 - 7 892 c.789G>A c.(787-789)gaG>gaA p.E263E ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA. 263 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CCTTTTGTGTCTCTTTGAGGC 0.323000 55 31 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139958 40139958 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:40139958G>A uc003ayg.3 - 6 1801 c.1550C>T c.(1549-1551)tCc>tTc p.S517F NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 517 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) ATTTTGGGTGGAAAACTCCCC 0.408000 33 10 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10446214 10446214 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10446214C>T uc010coi.3 - 9 1010 c.882G>A c.(880-882)tcG>tcA p.S294S AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S294S|MYH2_uc010coj.3_Silent_p.S294S NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 294 Myosin head-like. 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 GTTTCTTATTCGATGTAATCT 0.343000 10 5 0 0 1 0 0 CHRNA7 1139 broad.mit.edu 37 15 32450613 32450613 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:32450613G>A uc021sic.1 + 7 793 c.686_splice c.e7-1 p.G229_splice DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc010bae.2_Splice_Site|CHRNA7_uc001zft.3_Splice_Site_p.G200_splice|CHRNA7_uc010baf.3_Splice_Site_p.G19_splice|CHRNA7_uc010baj.1_Splice_Site_p.G60_splice|CHRNA7_uc010bak.3_Splice_Site_p.G115_splice NM_001190455 NP_683709 P36544 ACHA7_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA. 200 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) CCCTATGGAGGAATCCCCGGC 0.473000 31 8 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7530240 7530240 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:7530240C>T uc003src.1 - 11 1181 c.1064G>A c.(1063-1065)gGa>gAa p.G355E COL28A1_uc011jxe.1_Missense_Mutation_p.E41K|COL28A1_uc003srd.3_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 355 Collagen-like 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCCAGGAGCTCCTGGAGAACC 0.453000 20 5 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551957 100551957 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100551957C>A uc003uxl.1 + 0 1208 c.408C>A c.(406-408)tcC>tcA p.S136S MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCATCTGGTCCTCAACACCCA 0.413000 631 140 1.02229e-66 1.04416e-66 1 1 0 KANK4 163782 broad.mit.edu 37 1 62739150 62739150 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:62739150G>A uc001dah.4 - 2 2003 c.1626C>T c.(1624-1626)ctC>ctT p.L542L KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 542 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CCTTCCCTGGGAGATTGGAAC 0.612000 47 18 0 0 1 0 0 TMEM230 29058 broad.mit.edu 37 20 5086943 5086943 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:5086943G>A uc002wlk.3 - 3 361 c.302C>T c.(301-303)cCt>cTt p.P101L TMEM230_uc010gbi.3_Missense_Mutation_p.P38L|TMEM230_uc002wll.3_Missense_Mutation_p.P38L|TMEM230_uc002wlm.3_Missense_Mutation_p.P38L|TMEM230_uc002wln.3_Missense_Mutation_p.P38L NM_001009923 NP_054864 Q96A57 CT030_HUMAN Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA. 38 integral to membrane GATCTTAGGAGGGGTTTTCTT 0.383000 18 11 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234750649 234750649 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:234750649G>A uc002vvg.3 - 7 843 c.777C>T c.(775-777)acC>acT p.T259T HJURP_uc010znd.2_Silent_p.T198T|HJURP_uc010zne.2_Silent_p.T167T NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 259 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding p.T259I(1) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GGTCACTGATGGTCACATTGC 0.488000 48 25 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618428 175618428 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:175618428C>T uc002ujd.2 - 6 734 c.656G>A c.(655-657)gGg>gAg p.G219E BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.G194E|CHRNA1_uc002ujf.4_Missense_Mutation_p.G194E NM_001039523 NP_001034612 P02708 ACHA_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA. 219 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 CACCCACTCCCCGCTCTCCAT 0.587000 21 11 0 0 1 0 0 ODZ2 57451 broad.mit.edu 37 5 167671462 167671462 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:167671462G>A uc010jjd.3 + 25 5531 c.5531G>A c.(5530-5532)cGa>cAa p.R1844Q ODZ2_uc003lzr.4_Missense_Mutation_p.R1614Q|ODZ2_uc003lzt.4_Missense_Mutation_p.R1217Q|ODZ2_uc010jje.3_Missense_Mutation_p.R1108Q NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GACTATGATCGAAATATTCGG 0.507000 16 5 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053488 5053488 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:5053488G>A uc002cye.2 + 10 1396 c.1216G>A c.(1216-1218)Gag>Aag p.E406K NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 406 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GCGGATGATTGAGGTGGTTGA 0.627000 58 48 0 0 1 0 0 MZF1 7593 broad.mit.edu 37 19 59073705 59073706 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:59073705_59073706GG>AA uc002qto.3 - 5 2499_2500 c.1938_1939CC>TT c.(1936-1941)atccac>atTTac p.H647Y LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.H647Y NM_198055 NP_932172 P28698 MZF1_HUMAN Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA. 647 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) TCGCCCGTGTGGATGCGCTGGT 0.688000 8 5 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4510542 4510542 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:4510542C>T uc001lza.2 + 0 434 c.412C>T c.(412-414)Ctg>Ttg p.L138L NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CACGACGGTCCTGACTGGGTC 0.572000 31 12 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139865941 139865941 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:139865941C>T uc004fbg.1 - 0 783 c.591G>A c.(589-591)agG>agA p.R197R AK054921_uc004fbf.1_Non-coding_Transcript NM_004065 NP_004056 P51861 CDR1_HUMAN Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA. 197 5 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TATATGTCTTCCTGAAGATCC 0.443000 31 87 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8787362 8787362 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:8787362G>A uc003bra.3 + 1 342 c.265G>A c.(265-267)Ggc>Agc p.G89S C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.G89S NM_001234 NP_001225 P56539 CAV3_HUMAN Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. 89 Required for interaction with DAG1. T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CCTGCTCTGGGGCTTCCTGTT 0.587000 12 3 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97863118 97863118 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:97863118G>A uc003upg.3 - 10 1492 c.1287C>T c.(1285-1287)ctC>ctT p.L429L TECPR1_uc003uph.1_Silent_p.L359L NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA. 429 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTTCTGCAGGGAGAATCTGGC 0.617000 10 7 0 0 1 0 0 S100A8 6279 broad.mit.edu 37 1 153362702 153362702 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:153362702G>A uc001fbs.3 - 2 329 c.159C>T c.(157-159)gtC>gtT p.V53V NM_002964 NP_002955 P05109 S10A8_HUMAN Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA. 53 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CTTTGAACCAGACGTCTGCAC 0.483000 96 26 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058510 53058510 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:53058510C>T uc010epq.1 + 4 2518 c.2341C>T c.(2341-2343)Cat>Tat p.H781Y ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 781 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CCTTGTATACCATCGTAGACT 0.433000 76 40 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846930 123846930 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:123846930G>A uc001lfv.3 + 3 5275 c.4915G>A c.(4915-4917)Gag>Aag p.E1639K TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.E1639K|TACC2_uc010qtv.2_Missense_Mutation_p.E1639K NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1639 microtubule organizing center|nucleus nuclear hormone receptor binding p.R1638K(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TCCTCAGAGGGAGGTTTTGAC 0.592000 46 9 0 0 1 0 0 TAPBPL 55080 broad.mit.edu 37 12 6570038 6570038 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:6570038G>A uc001qog.4 + 5 1463 c.1225G>A c.(1225-1227)Gga>Aga p.G409R TAPBPL_uc001qoi.1_Non-coding_Transcript NM_018009 NP_060479 Q9BX59 TPSNR_HUMAN Homo sapiens TAP binding protein-like (TAPBPL), mRNA. 409 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 AACAGCCTTGGGAGTCATCTT 0.602000 45 20 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42141933 42141933 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:42141933C>T uc003baz.1 + 13 1608 c.1583C>T c.(1582-1584)cCa>cTa p.P528L bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.P528L|MEI1_uc011apd.1_Non-coding_Transcript NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN Homo sapiens meiosis inhibitor 1 (MEI1), mRNA. 528 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGGAGAATCCATTCACAGCT 0.483000 42 7 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121320 38121320 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:38121320C>T uc003atr.3 + 6 3028 c.2757C>T c.(2755-2757)ccC>ccT p.P919P TRIOBP_uc003atu.3_Silent_p.P747P|TRIOBP_uc003atq.1_Silent_p.P919P|TRIOBP_uc003ats.1_Silent_p.P747P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 919 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GTGATGGTCCCCGAACCTCTT 0.582000 114 33 0 0 1 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80992912 80992912 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:80992912G>A uc002kgg.1 - 4 356 c.342_splice c.e4+1 p.S114_splice B3GNTL1_uc002kgf.1_Splice_Site NM_001009905 NP_001009905 Q67FW5 B3GNL_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA. 114 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GTTACTTACCGAATCCAAAAA 0.323000 108 19 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167698 140167698 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140167698C>T uc003lhb.2 + 0 1823 c.1823C>T c.(1822-1824)tCc>tTc p.S608F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S608F NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 621 Cadherin 6. 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) GCGTGGCTGTCCTATGAACTG 0.677000 96 38 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207639886 207639886 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:207639886C>T uc001hfw.3 + 1 193 c.74C>T c.(73-75)tCt>tTt p.S25F CR2_uc001hfv.3_Missense_Mutation_p.S25F|CR2_uc009xch.3_Missense_Mutation_p.S25F NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 25 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TCTTGTGGCTCTCCTCCGCCT 0.408000 62 62 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33538124 33538124 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:33538124C>T uc001rll.1 - 3 1477 c.1180G>A c.(1180-1182)Gat>Aat p.D394N SYT10_uc009zju.1_Missense_Mutation_p.D204N NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 394 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.M393I(2) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CCAGTAATATCCATCGCCTTC 0.413000 43 26 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100443867 100443867 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:100443867A>T uc003yiv.3 + 21 3296 c.3185A>T c.(3184-3186)aAt>aTt p.N1062I VPS13B_uc003yiw.3_Missense_Mutation_p.N1062I|VPS13B_uc003yiu.1_Missense_Mutation_p.N1062I|VPS13B_uc003yix.1_Missense_Mutation_p.N532I NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1062 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATTGTTTGGAATGCAGTGAAG 0.328000 32 9 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77705806 77705806 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:77705806C>T uc001xtf.2 + 10 989 c.777C>T c.(775-777)gtC>gtT p.V259V TMEM63C_uc010asq.1_Silent_p.V259V NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 259 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GCTACGACGTCAGGAACCTGA 0.627000 30 23 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33374114 33374114 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:33374114C>T uc003oef.4 + 7 2128 c.1678C>T c.(1678-1680)Ccc>Tcc p.P560S KIFC1_uc011drf.2_Missense_Mutation_p.P552S NM_002263 NP_002254 Q9BW19 KIFC1_HUMAN Homo sapiens kinesin family member C1 (KIFC1), mRNA. 560 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GTGTGGGGCCCCCCTCAGTCT 0.642000 271 53 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48896834 48896834 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:48896834G>A uc004dmb.3 - 2 570 c.332C>T c.(331-333)tCa>tTa p.S111L TFE3_uc004dmc.3_Missense_Mutation_p.S6L|TFE3_uc004dme.1_Non-coding_Transcript NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 111 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GACCCTCGATGAAGAAGATGA 0.647000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 5 10 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26861448 26861448 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:26861448G>A uc010crm.3 + 6 1225 c.1027G>A c.(1027-1029)Ggc>Agc p.G343S FOXN1_uc002hbj.3_Missense_Mutation_p.G343S NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 343 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CTCCCGCAAGGGCTGCCTGTG 0.537000 46 7 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101190335 101190335 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:101190335A>T uc001dti.3 + 3 1038 c.817A>T c.(817-819)Aat>Tat p.N273Y VCAM1_uc010ouj.2_Missense_Mutation_p.N211Y|VCAM1_uc001dtj.3_Missense_Mutation_p.N273Y NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 273 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CCTTTCTGGAAATGCAACTCT 0.413000 21 13 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439989 52439989 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:52439989G>A uc010tgr.1 - 0 c.231C>T CCDC70_uc001vfu.4_Missense_Mutation_p.E159K|CCDC70_uc021rjv.1_Missense_Mutation_p.E159K Q6NSX1 CCD70_HUMAN Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA. extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CCTGTGGGAGGAAGAAAAGGC 0.547000 59 31 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175703 143175703 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:143175703C>T uc003wdc.1 + 0 738 c.738C>T c.(736-738)tcC>tcT p.S246S LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 246 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) ATGCTCTGTCCTTTCTGTCCC 0.507000 77 15 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949796 56949796 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:56949796C>T uc001njl.2 + 0 576 c.429C>T c.(427-429)tcC>tcT p.S143S NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 113 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 ACAACAACTCCTTAATGGAGC 0.582000 14 6 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907323 164907323 + Silent SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:164907323A>C uc003fej.4 - 1 1740 c.1296T>G c.(1294-1296)tcT>tcG p.S432S SLITRK3_uc003fek.3_Silent_p.S432S|SLITRK3_uc021xgy.1_Silent_p.S432S NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 432 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GATCCAAGGAAGAAAAATTCC 0.403000 HNSCC(40;0.11) 55 15 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3411056 3411056 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:3411056G>A uc001akl.3 - 31 4235 c.4008C>T c.(4006-4008)ccC>ccT p.P1336P MEGF6_uc001akk.3_Silent_p.P1101P NM_001409 NP_001400 O75095 MEGF6_HUMAN Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA. 1336 extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) AGCGCCCAGGGGGACAGGCTG 0.706000 14 6 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133750428 133750428 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:133750428C>T uc004bzw.3 + 6 1262 c.1259C>T c.(1258-1260)tCc>tTc p.S420F ABL1_uc004bzv.3_Missense_Mutation_p.S439F NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 420 Protein kinase. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding p.K419E(1)|p.?(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) TCCATCAAGTCCGACGTCTGG 0.527000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 32 8 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 136031458 136031458 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:136031458G>A uc011mcw.2 - 3 450 c.169C>T c.(169-171)Cac>Tac p.H57Y RALGDS_uc010nab.3_Intron|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Intron|RALGDS_uc010nac.1_Intron|RALGDS_uc004ccy.1_Intron NM_001042368 NP_001035827 Q12967 GNDS_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA. 0 Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TGTTGCTGGTGGCAGAGGCAA 0.582000 T CIITA """PMBL, Hodgkin Lymphona, """ 18 7 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754407 49754407 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:49754407G>A uc003ozu.3 - 0 647 c.494C>T c.(493-495)gCt>gTt p.A165V NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 165 glycolysis cytosol ATP binding|phosphoglycerate kinase activity 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) AGTGCCAAAAGCATCATTGAC 0.468000 58 18 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541928 55541928 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:55541928C>T uc003xsd.1 + 3 5634 c.5486C>T c.(5485-5487)cCt>cTt p.P1829L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1829 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACTCAGAACCTTTTCATGAG 0.428000 22 4 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118525493 118525493 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:118525493C>A uc010jcl.1 + 28 7407 c.7226C>A c.(7225-7227)tCc>tAc p.S2409Y DMXL1_uc003ksd.2_Missense_Mutation_p.S2409Y|DMXL1_uc021ycw.1_Missense_Mutation_p.S2236Y NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 2409 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTGACCCCTTCCTCGGCACCA 0.428000 84 30 1.45844e-13 1.48094e-13 1 1 0 KIAA0586 9786 broad.mit.edu 37 14 58953768 58953768 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:58953768C>T uc010trr.2 + 23 3591 c.3347C>T c.(3346-3348)cCt>cTt p.P1116L KIAA0586_uc001xdu.4_Missense_Mutation_p.P1048L|KIAA0586_uc010trs.2_Missense_Mutation_p.P978L|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1019L|KIAA0586_uc001xdv.4_Missense_Mutation_p.P987L|KIAA0586_uc010trt.2_Missense_Mutation_p.P923L|KIAA0586_uc010tru.1_Missense_Mutation_p.P923L NM_001244189 NP_001231118 E9PGW8 E9PGW8_HUMAN Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA. 987 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTACGCCTCCTTGCTCACCT 0.413000 19 37 0 0 1 0 0 NT5DC2 64943 broad.mit.edu 37 3 52562081 52562081 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52562081G>A uc003den.3 - 6 820 c.780C>T c.(778-780)atC>atT p.I260I NT5DC2_uc003dem.3_Silent_p.I93I|NT5DC2_uc010hmi.3_Silent_p.I235I|NT5DC2_uc010hmj.3_Silent_p.I39I|NT5DC2_uc003deo.3_Silent_p.I223I NM_001134231 NP_001127703 Q9H857 NT5D2_HUMAN Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA. 223 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GCACGTCTCGGATGGCGTCCT 0.632000 19 4 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156823912 156823912 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:156823912C>T uc010pht.2 - 1 568 c.269G>A c.(268-270)gGa>gAa p.G90E NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.G90E NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 90 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCTCCAGTCCGTAGACACG 0.617000 37 8 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96780866 96780866 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:96780866G>A uc021vlh.1 - 0 1023 c.1023C>T c.(1021-1023)ctC>ctT p.L341L NM_000682 NP_000673 P18089 ADA2B_HUMAN Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA. 344 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CCCTGCCCAGGAGCACCTGGC 0.692000 8 3 0 0 1 0 0 OLFML3 56944 broad.mit.edu 37 1 114523943 114523943 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:114523943C>T uc001eer.1 + 2 882 c.773C>T c.(772-774)cCa>cTa p.P258L OLFML3_uc001ees.1_Missense_Mutation_p.P238L|OLFML3_uc001eet.1_Missense_Mutation_p.P114L NM_020190 NP_064575 Q9NRN5 OLFL3_HUMAN Homo sapiens olfactomedin-like 3 (OLFML3), mRNA. 258 Olfactomedin-like. multicellular organismal development extracellular region breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAGTATTCCCAGCAGAGGGG 0.567000 25 22 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106667749 106667749 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:106667749C>T uc021ser.1 - 1314 c.27178G>A Parts of antibodies, mostly variable regions. CCAGCCCCTTCCCTGGAGCTT 0.562000 85 41 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604556 58604556 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:58604556T>A uc001nnd.4 - 4 539 c.408A>T c.(406-408)gaA>gaT p.E136D GLYATL2_uc009ymq.3_Missense_Mutation_p.E136D NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 136 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TCTTTGGTAATTCCGGTATAA 0.388000 62 13 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149772279 149772279 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:149772279C>T uc003lry.3 + 21 3634 c.3526C>T c.(3526-3528)Ccc>Tcc p.P1176S TCOF1_uc003lrz.3_Missense_Mutation_p.P1138S|TCOF1_uc011dch.2_Missense_Mutation_p.P1139S|TCOF1_uc003lrx.3_Missense_Mutation_p.P1100S|TCOF1_uc003lsa.3_Missense_Mutation_p.P1099S NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA. 1176 P -> R (in dbSNP:rs1136103). skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTCCCACCCCCTCCAGGAC 0.637000 34 5 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200528536 200528536 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:200528536C>T uc010ppk.1 - 26 4714 c.4275G>A c.(4273-4275)atG>atA p.M1425I KIF14_uc010ppj.1_Missense_Mutation_p.M934I NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 1425 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 ATAAAATCTTCATTCCTAAGC 0.299000 43 27 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48680522 48680522 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48680522G>A uc002irk.1 + 20 4503 c.4131G>A c.(4129-4131)ctG>ctA p.L1377L CACNA1G_uc002iri.1_Silent_p.L1377L|CACNA1G_uc002irj.1_Silent_p.L1354L|CACNA1G_uc002irl.1_Silent_p.L1354L|CACNA1G_uc002irm.1_Silent_p.L1354L|CACNA1G_uc002irn.1_Silent_p.L1354L|CACNA1G_uc002iro.1_Silent_p.L1354L|CACNA1G_uc002irp.1_Silent_p.L1377L|CACNA1G_uc002irq.1_Silent_p.L1354L|CACNA1G_uc002irr.1_Silent_p.L1377L|CACNA1G_uc002irs.1_Silent_p.L1377L|CACNA1G_uc002irt.1_Silent_p.L1377L|CACNA1G_uc002iru.1_Silent_p.L1354L|CACNA1G_uc002irv.1_Silent_p.L1377L|CACNA1G_uc002irw.1_Silent_p.L1354L|CACNA1G_uc002irx.1_Silent_p.L1290L|CACNA1G_uc002iry.1_Silent_p.L1290L|CACNA1G_uc002isg.1_Silent_p.L1290L|CACNA1G_uc002ish.1_Silent_p.L1290L|CACNA1G_uc002isi.1_Silent_p.L1267L|CACNA1G_uc002irz.1_Silent_p.L1290L|CACNA1G_uc002isa.1_Silent_p.L1290L|CACNA1G_uc002isd.1_Silent_p.L1290L|CACNA1G_uc002isb.1_Silent_p.L1290L|CACNA1G_uc002isc.1_Silent_p.L1290L|CACNA1G_uc002ise.1_Silent_p.L1290L|CACNA1G_uc002isf.1_Silent_p.L1290L|CACNA1G_uc002isj.3_Silent_p.L101L NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 1377 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGGCATGCTGAGGGTGCTGC 0.642000 49 16 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533948 55533948 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:55533948C>T uc003xsd.1 + 1 570 c.422C>T c.(421-423)cCc>cTc p.P141L RP1_uc011ldy.1_Missense_Mutation_p.P141L NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 141 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCGCCCCACCCCGTAGCCGTC 0.701000 83 24 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2061788 2061788 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:2061788G>A uc001qjx.1 - 6 1398 c.1318C>T c.(1318-1320)Cag>Tag p.Q440* DCP1B_uc010sdy.1_Nonsense_Mutation_p.Q338* NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA. 440 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CTGCCAGTCTGACTACCAGAG 0.522000 60 38 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201778349 201778349 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:201778349G>A uc021phi.1 + 20 4612 c.4265G>A c.(4264-4266)cGg>cAg p.R1422Q NAV1_uc001gwu.3_Missense_Mutation_p.R1419Q|NAV1_uc001gwx.3_Missense_Mutation_p.R1028Q NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 1422 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GTGACCCTCCGGGTGGTGGTG 0.512000 122 55 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66067341 66067341 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:66067341C>T uc001dci.3 + 8 1650 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C LEPR_uc001dcg.3_Missense_Mutation_p.R421C|LEPR_uc001dch.3_Missense_Mutation_p.R421C|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.R421C|LEPR_uc001dcj.3_Missense_Mutation_p.R421C|LEPR_uc001dck.3_Missense_Mutation_p.R421C NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 421 Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity p.H420Y(1) 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) ATGCCATCATCGCTATGCTGA 0.358000 30 8 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117826345 117826345 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:117826345C>T uc004bjj.4 - 11 3902 c.3490G>A c.(3490-3492)Gaa>Aaa p.E1164K TNC_uc010mvf.3_Missense_Mutation_p.E1164K|TNC_uc022bmj.1_Intron NM_002160 NP_002151 P24821 TENA_HUMAN Homo sapiens tenascin C (TNC), mRNA. 1164 Fibronectin type-III 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.G1163V(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TTGGGAGTTTCCCCTGGAGAA 0.443000 55 60 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29275257 29275257 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:29275257C>T uc011dln.2 + 0 791 c.791C>T c.(790-792)tCc>tTc p.S264F NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 CCTTCTGATTCCTCATCGACT 0.468000 94 54 0 0 1 0 0 AK125237 0 broad.mit.edu 37 10 27551988 27551988 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:27551988G>A uc001itt.1 + 1 c.244G>A Homo sapiens cDNA FLJ43247 fis, clone HEART2000611. TGGAATCCTCGAAATCACCCC 0.448000 7 5 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146913 52146913 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:52146913G>A uc002pxf.4 - 5 1145 c.1025C>T c.(1024-1026)tCc>tTc p.S342F NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA. 342 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) ACATATGCAGGAAGAGGAGCT 0.592000 9 23 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307319 54307319 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:54307319C>T uc021smr.1 + 0 2219 c.2219C>T c.(2218-2220)tCt>tTt p.S740F UNC13C_uc021sms.1_Missense_Mutation_p.S740F NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 740 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.S740S(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAATATGATTCTTATCAGGGA 0.413000 15 3 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24919696 24919696 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:24919696C>T uc003aaf.3 + 8 2321 c.1026C>T c.(1024-1026)ctC>ctT p.L342L UPB1_uc003aae.3_Silent_p.L274L|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 342 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TTGCTAAGCTCGACCTAAACC 0.572000 69 19 0 0 1 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15586733 15586733 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:15586733C>T uc002nbg.3 - 1 881 c.748G>A c.(748-750)Gac>Aac p.D250N PGLYRP2_uc002nbf.4_Missense_Mutation_p.D250N NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA. 250 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GAGAGCTGGTCCCAGCAGCCC 0.617000 16 9 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922455 24922456 + Missense_Mutation DNP GG AA AA rs142027848 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:24922455_24922456GG>AA uc001ywo.3 + 0 1915_1916 c.1441_1442GG>AA c.(1441-1443)gga>AAa p.G481K NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 481 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TAATGAGAAAGGAGGCTCTTAT 0.500000 227 33 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131471681 131471681 + Missense_Mutation SNP G A A rs148148477 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:131471681G>A uc010tbm.2 + 6 1187 c.628G>A c.(628-630)Gag>Aag p.E210K GPR133_uc001uit.4_Missense_Mutation_p.E178K NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 178 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.E178K(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAAATCCAAGGAGGGCCTGAA 0.512000 44 19 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135201838 135201838 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:135201838A>T uc004cbk.3 - 9 5330 c.5147T>A c.(5146-5148)tTt>tAt p.F1716Y SETX_uc004cbj.3_Missense_Mutation_p.F1335Y|SETX_uc010mzt.3_Missense_Mutation_p.F1335Y NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 1716 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACACTGACCAAAGTTCAAAAA 0.393000 27 9 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31289498 31289498 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:31289498G>A uc003aiy.1 + 9 2143 c.2039G>A c.(2038-2040)aGg>aAg p.R680K OSBP2_uc011ala.1_Missense_Mutation_p.R514K|OSBP2_uc010gwc.1_Missense_Mutation_p.R507K|OSBP2_uc011alb.1_Missense_Mutation_p.R631K|OSBP2_uc003aiz.1_Missense_Mutation_p.R679K|OSBP2_uc003aja.1_Missense_Mutation_p.R313K|OSBP2_uc011alc.2_Missense_Mutation_p.R422K|OSBP2_uc011ald.1_Missense_Mutation_p.R224K|OSBP2_uc010gwd.1_Missense_Mutation_p.R225K NM_030758 NP_110385 Q969R2 OSBP2_HUMAN Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA. 680 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 TACGTGTGGAGGAAGAGCACC 0.632000 46 19 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53010066 53010066 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:53010066G>A uc001sas.3 - 1 581 c.546C>T c.(544-546)atC>atT p.I182I NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 182 Linker 1.|Rod. keratin filament structural molecule activity p.P181H(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCCTCAAGGATGGGCTCCA 0.607000 101 23 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122277240 122277240 + Silent SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:122277240A>G uc010hri.3 - 2 235 c.90T>C c.(88-90)ttT>ttC p.F30F PARP9_uc003eff.4_Intron|PARP9_uc011bjs.2_Intron|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Intron|PARP9_uc003efh.3_Silent_p.F30F|PARP9_uc003efj.2_Intron NM_001146102 NP_113646 Q8IXQ6 PARP9_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA. 30 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) AGATCTGAGCAAAGACTTTCT 0.493000 40 13 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110301182 110301182 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:110301182G>A uc001dyr.2 - 6 790 c.565C>T c.(565-567)Cct>Tct p.P189S EPS8L3_uc001dys.2_Missense_Mutation_p.P189S|EPS8L3_uc001dyq.2_Missense_Mutation_p.P190S|EPS8L3_uc009wfm.2_Missense_Mutation_p.P156S|EPS8L3_uc009wfn.2_Missense_Mutation_p.P156S|EPS8L3_uc009wfo.2_Missense_Mutation_p.P136S NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 189 Pro-rich. cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGTTCTGGAGGGATCCCCGGC 0.582000 63 16 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32828438 32828438 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:32828438G>A uc003amn.2 - 9 1071 c.1071C>T c.(1069-1071)acC>acT p.T357T BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Silent_p.T81T NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 357 extracellular region lipopolysaccharide binding|phospholipid binding GGATGTCCAGGGTGAAATTGC 0.512000 52 13 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46830690 46830690 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:46830690G>A uc003oyo.3 - 14 2423 c.2134C>T c.(2134-2136)Cag>Tag p.Q712* GPR116_uc011dwj.1_Nonsense_Mutation_p.Q267*|GPR116_uc011dwk.1_Nonsense_Mutation_p.Q141*|GPR116_uc003oyp.3_Nonsense_Mutation_p.Q570*|GPR116_uc003oyq.3_Nonsense_Mutation_p.Q712*|GPR116_uc010jzi.1_Nonsense_Mutation_p.Q384* NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 712 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TCCTCCCACTGGGAGCCTACA 0.527000 107 34 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809942 5809942 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5809942G>A uc010qzo.2 - 0 105 c.105C>T c.(103-105)acC>acT p.T35T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA. 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGCTGTACATGGTACACAGTG 0.453000 23 8 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858153 9858153 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:9858153T>G uc010uym.2 - 13 3558 c.3248A>C c.(3247-3249)aAg>aCg p.K1083T GRIN2A_uc002czo.4_Missense_Mutation_p.K1083T|GRIN2A_uc010uyn.2_Missense_Mutation_p.K926T|GRIN2A_uc002czr.4_Missense_Mutation_p.K1083T NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1083 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|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAAGTTGTCCTTGGTTTTGTG 0.493000 83 30 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139564373 139564373 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:139564373C>T uc021zfy.1 - 9 1510 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN Homo sapiens taxilin beta (TXLNB), mRNA. 449 cytoplasm p.Q448K(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TTTCTCTCTTCTTGTAAAGCA 0.433000 14 9 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298869 37298869 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:37298869G>A uc022abv.1 - 5 1040 c.330C>T c.(328-330)ctC>ctT p.L110L ELMO1_uc011kbc.2_Silent_p.L14L|ELMO1_uc003tfk.2_Silent_p.L110L|ELMO1_uc010kxg.2_Silent_p.L110L NM_001206482 NP_001193411 Q92556 ELMO1_HUMAN Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA. 110 Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.S109_L110>RI(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CATCCCGGGAGAGGCTGGCCA 0.547000 29 17 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75937858 75937858 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:75937858G>A uc003hih.2 + 1 520 c.267G>A c.(265-267)gaG>gaA p.E89E NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA. 89 positive regulation of telomerase activity Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 GAGAAGAGGAGATCACCAGCC 0.522000 65 15 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105184791 105184791 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:105184791C>T uc001kwy.1 + 19 2901 c.2814C>T c.(2812-2814)tcC>tcT p.S938S NM_014976 NP_055791 Q14690 RRP5_HUMAN Homo sapiens programmed cell death 11 (PDCD11), mRNA. 938 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TGGAGAAGTCCTTTGCCATTG 0.537000 50 16 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54630614 54630614 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:54630614G>A uc021smr.1 + 14 4634 c.4634G>A c.(4633-4635)aGg>aAg p.R1545K UNC13C_uc021sms.1_Missense_Mutation_p.R1547K|UNC13C_uc002acl.3_Missense_Mutation_p.R377K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1547 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GACTGTGTAAGGGCTTGCCTG 0.423000 72 17 0 0 1 0 0 NR3C2 4306 broad.mit.edu 37 4 149075789 149075789 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:149075789C>T uc003ilj.4 - 4 2641 c.2278G>A c.(2278-2280)Gat>Aat p.D760N NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 760 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TCGGCTGTATCTGGTTTTGAG 0.493000 53 30 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114274757 114274757 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:114274757G>A uc003ibe.4 + 37 5083 c.4983G>A c.(4981-4983)aaG>aaA p.K1661K ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.K1676K NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1628 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCAAGATAAGGCAGGGAAGA 0.478000 38 12 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142185496 142185496 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:142185496C>T uc003yvy.3 + 13 2511 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L DENND3_uc010mep.3_Silent_p.L706L|DENND3_uc003yvz.1_Silent_p.L429L NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 745 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGAAGCGCCTGTTCCTCCT 0.532000 OREG0019025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 16 0 0 1 0 0 THAP1 55145 broad.mit.edu 37 8 42693393 42693393 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:42693393T>A uc003xpk.3 - 2 591 c.354A>T c.(352-354)ttA>ttT p.L118F THAP1_uc003xpl.3_Missense_Mutation_p.Y53F NM_018105 NP_060575 Q9NVV9 THAP1_HUMAN Homo sapiens THAP domain containing, apoptosis associated protein 1 (THAP1), transcript variant 1, mRNA. 118 cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body sequence-specific DNA binding|zinc ion binding NS(1)|lung(4)|prostate(1)|skin(1) 7 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCGGCATTAGTAATCCAATAG 0.463000 119 32 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131915751 131915751 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:131915751C>T uc003kxi.3 + 4 1150 c.749C>T c.(748-750)cCa>cTa p.P250L RAD50_uc003kxg.1_Missense_Mutation_p.P151L|RAD50_uc003kxh.3_Missense_Mutation_p.P111L NM_005732 NP_005723 Q92878 RAD50_HUMAN Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA. 250 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAACTTGATCCATTGAAGGTA 0.318000 Homologous recombination 30 15 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43128550 43128550 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:43128550C>T uc011dve.1 + 19 3210 c.3168C>T c.(3166-3168)ccC>ccT p.P1056P PTK7_uc003oub.1_Silent_p.P1048P|PTK7_uc003ouc.1_Silent_p.P992P|PTK7_uc003oud.1_Silent_p.P1008P|PTK7_uc003oue.1_Silent_p.P918P|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Silent_p.P374P|PTK7_uc003ouh.1_3'UTR NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 1048 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CCCTCAGCCCCAAGGACCGGC 0.647000 49 20 0 0 1 0 0 CRKL 1399 broad.mit.edu 37 22 21288339 21288339 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:21288339C>T uc002ztf.2 + 1 1093 c.584C>T c.(583-585)tCc>tTc p.S195F NM_005207 NP_005198 P46109 CRKL_HUMAN Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA. 195 JNK cascade|Ras protein signal transduction cytosol SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) AATAGGAATTCCAACAGTTAT 0.522000 59 24 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375576 93375576 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:93375576G>A uc022bjs.1 - 0 534 c.534C>T c.(532-534)atC>atT p.I178I DIRAS2_uc004aqx.1_Silent_p.I178I NM_017594 NP_060064 Q96HU8 DIRA2_HUMAN Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA. 178 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity p.I178I(2)|p.I178V(1) kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 TTTTCCCGTCGATCTGGAGAC 0.547000 25 41 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45758822 45758822 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:45758822G>A uc003bgc.3 - 15 2557 c.2505C>T c.(2503-2505)atC>atT p.I835I SMC1B_uc003bgd.3_Silent_p.I835I NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 835 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTAATGTGTTGATCTTATTCA 0.313000 41 16 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63417184 63417184 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:63417184C>T uc001xfx.3 - 6 1087 c.1036G>A c.(1036-1038)Gca>Aca p.A346T KCNH5_uc001xfy.3_Missense_Mutation_p.A346T|KCNH5_uc001xfz.1_Missense_Mutation_p.A288T|KCNH5_uc001xga.3_Missense_Mutation_p.A288T NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 346 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) AGGACTGCTGCTCCATATTCT 0.512000 15 48 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315735 50315735 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:50315735C>T uc001jhf.2 - 1 390 c.361G>A c.(361-363)Gat>Aat p.D121N VSTM4_uc001jhh.2_Missense_Mutation_p.D121N NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 121 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 TGCCCTTGATCGGAGGGCTGC 0.617000 52 39 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86832295 86832295 + Silent SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:86832295A>T uc002srn.3 - 3 1720 c.729T>A c.(727-729)ctT>ctA p.L243L RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Silent_p.L104L|RNF103_uc021vkg.1_Silent_p.L239L|BC066991_uc002sro.3_Intron NM_005667 NP_005658 O00237 RN103_HUMAN Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. 243 ER-associated protein catabolic process|central nervous system development endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 GGGGCTGGTCAAGGTTTGCAA 0.338000 28 9 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165551061 165551061 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:165551061G>A uc002ucp.3 - 11 3177 c.2955C>T c.(2953-2955)tcC>tcT p.S985S COBLL1_uc002ucq.3_Silent_p.S947S|COBLL1_uc010zcw.2_Silent_p.S1052S|COBLL1_uc010zcx.2_Silent_p.S993S|COBLL1_uc002ucn.3_Silent_p.S413S|COBLL1_uc002uco.3_Silent_p.S716S NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 1023 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TGGGAGGAGGGGAGGCTTCAG 0.463000 26 11 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 657980 657980 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:657980C>T uc003gap.3 + 16 2152 c.2099C>T c.(2098-2100)tCc>tTc p.S700F PDE6B_uc003gao.4_Missense_Mutation_p.S700F|PDE6B_uc011buy.2_Missense_Mutation_p.S421F|PDE6B_uc011buz.2_Missense_Mutation_p.S132F NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 700 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GAGTACCTGTCCCTGGAGACG 0.607000 67 17 0 0 1 0 0 GDF5OS 554250 broad.mit.edu 37 20 34022160 34022160 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:34022160C>T uc002xcj.3 + 1 646 c.571C>T c.(571-573)Ccg>Tcg p.P191S GDF5_uc010gfc.1_Silent_p.R351R|GDF5_uc002xck.1_Silent_p.R351R Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds. cervix(1)|endometrium(4)|lung(4) 9 AGAACAGGTCCCGTTTCTTGG 0.642000 87 68 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42302195 42302195 + Silent SNP G A A rs149457553 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:42302195G>A uc003xpe.3 - 5 1068 c.699C>T c.(697-699)ttC>ttT p.F233F SLC20A2_uc010lxl.3_Silent_p.F233F|SLC20A2_uc010lxm.3_Silent_p.F233F|SLC20A2_uc011lcu.2_Silent_p.F35F NM_006749 NP_006740 Q08357 S20A2_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA. 233 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACGGACACACGAAGAGCCACA 0.488000 45 15 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108509775 108509775 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:108509775G>A uc003ymn.3 - 0 480 c.12C>T c.(10-12)ttC>ttT p.F4F ANGPT1_uc003ymo.3_Silent_p.F4F NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 4 Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CAAAGGAAAGGAAAACTGTCA 0.458000 14 10 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161012087 161012087 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:161012087G>A uc003qtl.3 - 23 3796 c.3676C>T c.(3676-3678)Cct>Tct p.P1226S NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3734 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TAACACCAAGGACTAATCTCA 0.478000 19 11 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657981 143657981 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:143657981G>A uc003wds.1 + 0 962 c.918G>A c.(916-918)tgG>tgA p.W306* NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W306C(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AACTATTATGGAAATTCTCTG 0.433000 37 19 0 0 1 0 0 ARHGAP19 84986 broad.mit.edu 37 10 99025671 99025671 + Missense_Mutation SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:99025671C>G uc001knb.3 - 1 314 c.268G>C c.(268-270)Ggg>Cgg p.G90R ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.G81R|ARHGAP19_uc009xvj.3_Missense_Mutation_p.G90R|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA. 90 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) GGGCCAGCCCCGCCAGGCAAC 0.542000 66 18 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201035359 201035359 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:201035359T>C uc001gvv.3 - 20 2970 c.2743A>G c.(2743-2745)Aag>Gag p.K915E NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 915 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTCTCACCTTCAACCCCTTG 0.647000 72 16 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213689 9213689 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9213689C>T uc010xkk.2 - 0 294 c.294G>A c.(292-294)acG>acA p.T98T NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA. 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TCTTTGGGATCGTGGTTGTGC 0.488000 37 18 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113357 94113358 + Missense_Mutation DNP CT TA TA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:94113357_94113358CT>TA uc001pet.2 - 3 1401_1402 c.1229_1230AG>TA c.(1228-1230)aag>aTA p.K410I NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 410 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACAGGTCTGTCTTCCCAGACTG 0.564000 22 13 0 0 1 0 0 HMOX1 3162 broad.mit.edu 37 22 35782688 35782688 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:35782688C>A uc003ant.2 + 2 262 c.155C>A c.(154-156)gCc>gAc p.A52D NM_002133 NP_002124 P09601 HMOX1_HUMAN Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA. 52 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) CTGGTGATGGCCTCCCTGTAC 0.602000 17 13 1.5842e-08 1.60063e-08 1 1 0 LOC646813 646813 broad.mit.edu 37 11 50368807 50368807 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:50368807G>A uc001nhe.2 + 1 c.111G>A LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA. TGAAATACATGAAAGAGACAT 0.323000 14 3 0 0 1 0 0 BACE2 25825 broad.mit.edu 37 21 42629149 42629149 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:42629149C>T uc002yyw.3 + 7 1662 c.1199C>T c.(1198-1200)cCa>cTa p.P400L BACE2_uc002yyx.3_Missense_Mutation_p.P350L|BACE2_uc002yyy.3_Intron|BACE2_uc010goo.3_Intron NM_012105 NP_036237 Q9Y5Z0 BACE2_HUMAN Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA. 400 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GGCATTTCCCCATCCACAAAT 0.542000 42 12 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58422887 58422887 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:58422887G>A uc002iyo.1 - 1 427 c.141C>T c.(139-141)ttC>ttT p.F47F USP32_uc010wov.1_Silent_p.F47F NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA. 47 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTTCCCGGATGAAGCAGTGCT 0.463000 82 7 0 0 1 0 0 STX1B 112755 broad.mit.edu 37 16 31012882 31012882 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:31012882G>A uc010cad.2 - 1 185 c.73C>T c.(73-75)Cgg>Tgg p.R25W STX1B_uc010vfd.2_Missense_Mutation_p.R25W NM_052874 NP_443106 P61266 STX1B_HUMAN Homo sapiens syntaxin 1B (STX1B), mRNA. 25 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane SNAP receptor activity|extracellular-glutamate-gated ion channel activity p.R25L(1) breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 AAGTGGTCCCGATCCACGTGG 0.627000 26 15 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10927502 10927502 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:10927502G>A uc003mzo.3 + 16 1638 c.1342G>A c.(1342-1344)Gag>Aag p.E448K SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.E68K NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 448 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TAACATGGTGGAGTTTATGAG 0.433000 60 13 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616405 248616405 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:248616405T>A uc001iek.1 + 0 307 c.307T>A c.(307-309)Ttc>Atc p.F103I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 103 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) AGTTCAGATCTTCCTCTACCT 0.532000 122 16 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28992948 28992948 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:28992948C>T uc002kwr.2 + 14 2705 c.2570C>T c.(2569-2571)cCa>cTa p.P857L DSG4_uc002kwq.2_Missense_Mutation_p.P838L NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 838 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.P856H(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ACTTTAGATCCAAAATTTAGG 0.438000 52 24 0 0 1 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136402577 136402577 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:136402577C>A uc011mdl.2 + 2 698 c.141C>A c.(139-141)gcC>gcA p.A47A ADAMTSL2_uc004cei.3_Silent_p.A47A NM_001145320 NP_055509 Q86TH1 ATL2_HUMAN Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA. 47 TSP type-1 1. negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) ACGCCACGGCCTTCTGGTGGG 0.667000 66 29 1.99505e-19 2.03177e-19 1 1 0 FAM179A 165186 broad.mit.edu 37 2 29240740 29240740 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:29240740C>T uc010ezl.3 + 9 1629 c.1278C>T c.(1276-1278)atC>atT p.I426I FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA. 426 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCAGCATCATCCTGAGGAAGT 0.682000 9 6 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129167 83129167 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:83129167C>T uc004eei.1 + 3 1472 c.1451C>T c.(1450-1452)aCt>aTt p.T484I CYLC1_uc004eeh.1_Missense_Mutation_p.T483I NM_021118 NP_066941 P35663 CYLC1_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA. 484 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 GCAGAATCTACTGAAATGGAA 0.343000 1 4 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44298504 44298504 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:44298504G>A uc003tkq.2 - 3 452 c.242C>T c.(241-243)tCc>tTc p.S81F CAMK2B_uc003tkp.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkr.2_Missense_Mutation_p.S81F|CAMK2B_uc003tks.2_Missense_Mutation_p.S81F|CAMK2B_uc003tku.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkv.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkt.2_Missense_Mutation_p.S81F|CAMK2B_uc003tkw.2_Missense_Mutation_p.S81F|CAMK2B_uc010kyc.2_Missense_Mutation_p.S81F NM_001220 NP_001211 Q13554 KCC2B_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA. 81 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 GCCCTCCTCGGAGATGCTGTC 0.612000 26 3 0 0 1 0 0 ODC1 4953 broad.mit.edu 37 2 10584230 10584230 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:10584230G>A uc010exg.1 - 4 874 c.440C>T c.(439-441)cCc>cTc p.P147L ODC1_uc002rao.1_Missense_Mutation_p.P147L|ODC1_uc010yjd.1_Missense_Mutation_p.P17L NM_002539 NP_002530 P11926 DCOR_HUMAN Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA. 147 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) CTTTGCTTTGGGATGTGCTCT 0.358000 127 54 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48684312 48684312 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:48684312G>A uc003cuf.1 - 22 7389 c.7389C>T c.(7387-7389)gtC>gtT p.V2463V CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.V376V|CELSR3_uc003cul.3_Silent_p.V2393V|CELSR3_uc021wxq.1_5'Flank NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 2393 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTGGTGGGGGGACCACACTTG 0.582000 8 3 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896066 153896066 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:153896066C>T uc003inf.2 + 10 1698 c.1623C>T c.(1621-1623)ctC>ctT p.L541L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 541 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GCTCCCGCCTCTCCCTGGGTC 0.687000 10 11 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424898 91424898 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:91424898C>T uc002bpu.1 + 15 2391 c.2175C>T c.(2173-2175)atC>atT p.I725I FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 725 Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.I725I(2)|p.V717fs*18(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCGCCTTCATCGTGCTGGTCT 0.662000 344 23 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34046479 34046479 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:34046479G>A uc001bxm.1 - 47 7438 c.7261C>T c.(7261-7263)Ctg>Ttg p.L2421L CSMD2_uc001bxn.1_Silent_p.L2423L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2423 CUB 14. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCTTTCAGCAGAGGACTCTGT 0.562000 29 9 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 654278 654278 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:654278C>T uc003gap.3 + 11 1543 c.1490C>T c.(1489-1491)aCc>aTc p.T497I PDE6B_uc003gao.4_Missense_Mutation_p.T497I|PDE6B_uc011buy.2_Missense_Mutation_p.T218I NM_000283 NP_001138764 P35913 PDE6B_HUMAN Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA. 497 GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.T497S(2) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CCAGGGCCCACCACATTTGAC 0.567000 29 22 0 0 1 0 0 MRO 83876 broad.mit.edu 37 18 48331554 48331554 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:48331554G>A uc010dpa.3 - 3 590 c.441C>T c.(439-441)atC>atT p.I147I MRO_uc010xdn.2_Silent_p.I133I|MRO_uc002lew.4_Silent_p.I133I|MRO_uc010dpb.3_Silent_p.I147I|MRO_uc010dpc.3_Silent_p.I133I|MRO_uc002lex.4_Silent_p.I133I NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 133 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) TCTGAAGGGTGATATCTATGA 0.433000 17 24 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55594778 55594778 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:55594778C>T uc001nhy.1 + 0 84 c.84C>T c.(82-84)ttC>ttT p.F28F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TCTGCCTCTTCCTGCTGTTCC 0.502000 HNSCC(27;0.073) 131 29 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39755657 39755657 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:39755657G>A uc010gnw.3 - 11 1424 c.1129C>T c.(1129-1131)Cgt>Tgt p.R377C ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.R370C|ERG_uc011aek.2_Missense_Mutation_p.R278C|ERG_uc010gnv.3_Missense_Mutation_p.R254C|ERG_uc010gnx.3_Missense_Mutation_p.R353C|ERG_uc011ael.2_Missense_Mutation_p.R377C|ERG_uc002yxb.3_Missense_Mutation_p.R353C NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 377 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TAGTAGTAACGGAGGGCGCGG 0.602000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 84 28 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347381 71347381 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:71347381C>T uc011cat.2 + 3 1208 c.920C>T c.(919-921)cCa>cTa p.P307L MUC7_uc011cau.2_Missense_Mutation_p.P307L|MUC7_uc003hfj.3_Missense_Mutation_p.P307L NM_001145006 NP_689504 Q8TAX7 MUC7_HUMAN Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA. 307 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACAGCTGCCCCAATTACCACA 0.547000 168 56 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100252710 100252710 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100252710C>T uc003uvy.3 - 3 408 c.301G>A c.(301-303)Gat>Aat p.D101N ACTL6B_uc003uvz.3_Non-coding_Transcript|AK055267_uc003uwa.1_5'Flank NM_016188 NP_057272 O94805 ACL6B_HUMAN Homo sapiens actin-like 6B (ACTL6B), mRNA. 101 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent SWI/SNF complex|nBAF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TAGGTGTGATCCAGGATGGCT 0.597000 16 17 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965087 42965087 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:42965087G>A uc003gwt.3 + 1 564 c.563G>A c.(562-564)cGa>cAa p.R188Q NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 188 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TTAGACGAACGATGCCGACGA 0.418000 183 170 0 0 1 0 0 SOX7 83595 broad.mit.edu 37 8 10583504 10583504 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:10583504G>A uc011kwz.2 - 5 1100 c.1067C>T c.(1066-1068)tCc>tTc p.S356F SOX7_uc003wtf.3_Missense_Mutation_p.S304F NM_031439 NP_113627 Q9BT81 SOX7_HUMAN Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA. 304 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) AGGAGGCGGGGAAAGCTGGCC 0.607000 21 15 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90190149 90190149 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:90190149G>A uc002bof.2 - 6 1777 c.1700C>T c.(1699-1701)cCc>cTc p.P567L KIF7_uc010upw.1_Missense_Mutation_p.P54L NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN Homo sapiens kinesin family member 7 (KIF7), mRNA. 567 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) ACCCCCCAGGGGGGCTGTATG 0.692000 OREG0023460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 136 20 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11009823 11009823 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:11009823G>A uc010oao.2 - 10 1148 c.1148C>T c.(1147-1149)cCc>cTc p.P383L C1orf127_uc001ars.2_Missense_Mutation_p.P244L|C1orf127_uc001arr.2_Missense_Mutation_p.P226L NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 234 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TGGTGGGGAGGGAGTGGTCCT 0.607000 6 6 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815070 106815070 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:106815070G>A uc003ymd.3 + 7 2783 c.2760G>A c.(2758-2760)ggG>ggA p.G920G ZFPM2_uc011lhs.2_Silent_p.G651G NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 920 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAAAAATGGGAATTTGAAGC 0.453000 25 5 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699077 17699077 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:17699077C>T uc002grm.3 + 2 3284 c.2815C>T c.(2815-2817)Cag>Tag p.Q939* RAI1_uc002grn.1_Nonsense_Mutation_p.Q939* NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN Homo sapiens retinoic acid induced 1 (RAI1), mRNA. 939 Q -> P (in dbSNP:rs1759075). 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) GTCAAAGGTCCAGAGCTGGTT 0.637000 32 10 0 0 1 0 0 CCL18 6362 broad.mit.edu 37 17 34397833 34397833 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:34397833C>T uc002hku.3 + 1 154 c.94C>T c.(94-96)Ctc>Ttc p.L32F NM_002988 NP_002979 P55774 CCL18_HUMAN Homo sapiens chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) (CCL18), mRNA. 32 cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction extracellular space chemokine activity endometrium(1)|large_intestine(2)|lung(1) 4 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCTCTGCTGCCTCGTCTATAC 0.507000 14 9 0 0 1 0 0 EIF2C1 26523 broad.mit.edu 37 1 36360811 36360811 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:36360811C>T uc001bzl.3 + 7 1174 c.961C>T c.(961-963)Ccc>Tcc p.P321S EIF2C1_uc001bzk.3_Missense_Mutation_p.P246S|EIF2C1_uc009vuy.3_Non-coding_Transcript NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 321 PAZ. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding p.P321L(1) biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GCTCAAGTATCCCCATCTGCC 0.478000 38 9 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10898251 10898251 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:10898251C>T uc003mzo.3 + 4 640 c.344C>T c.(343-345)tCc>tTc p.S115F SYCP2L_uc011din.1_5'UTR|SYCP2L_uc010jow.3_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA. 115 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TACCTAGTTTCCTGGTTTGAA 0.383000 53 11 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671555 45671555 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:45671555G>A uc021qgn.1 - 0 919 c.919C>T c.(919-921)Cgg>Tgg p.R307W CHST1_uc001mys.2_Missense_Mutation_p.R307W NM_003654 NP_003645 O43916 CHST1_HUMAN Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA. 307 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) ATAGGGTTCCGAGCCAGGTCC 0.642000 44 43 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72509663 72509663 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:72509663G>A uc001jrg.3 + 15 2358 c.2358G>A c.(2356-2358)ctG>ctA p.L786L ADAMTS14_uc001jrh.3_Silent_p.L783L NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 783 Spacer. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCATGGGCCTGGAGTGGGAGG 0.642000 53 39 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121929881 121929881 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:121929881C>T uc004bkc.2 - 7 2223 c.1767G>A c.(1765-1767)aaG>aaA p.K589K NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 589 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GGAGACGGATCTTCTCCCAGC 0.527000 44 34 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53574695 53574695 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:53574695G>A uc004dsp.3 - 67 10977 c.10575C>T c.(10573-10575)acC>acT p.T3525T HUWE1_uc004dsn.3_Silent_p.T2333T|HUWE1_uc004dsq.1_5'Flank NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 3525 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTACGACAATGGTGGAAATAG 0.582000 2 6 0 0 1 0 0 LIF 3976 broad.mit.edu 37 22 30639987 30639988 + Missense_Mutation DNP CC TT TT rs112776523 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:30639987_30639988CC>TT uc003agz.2 - 2 373_374 c.261_262GG>AA c.(259-264)acggac>acAAac p.D88N LIF_uc011aks.1_Missense_Mutation_p.G28K|MGC20647_uc003aha.3_5'Flank NM_002309 NP_002300 P15018 LIF_HUMAN Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA. 88 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) GGCGGGAAGTCCGTCACGTTGG 0.634000 37 7 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129289910 129289910 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:129289910G>A uc003emx.2 - 17 3673 c.3573C>T c.(3571-3573)ccC>ccT p.P1191P NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1191 axon guidance integral to membrane|intracellular|plasma membrane p.P1191P(2) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GAGGCTCCCCGGGGTGGTGCT 0.667000 179 66 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40703598 40703598 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:40703598C>T uc001cfc.4 + 7 3255 c.3224C>T c.(3223-3225)tCa>tTa p.S1075L RLF_uc001cfd.4_Missense_Mutation_p.S766L NM_012421 NP_036553 Q13129 RLF_HUMAN Homo sapiens rearranged L-myc fusion (RLF), mRNA. 1075 DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TTGAAAAACTCAATAACACAT 0.413000 25 42 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935230 151935230 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:151935230C>T uc022chl.1 - 0 937 c.937G>A c.(937-939)Gaa>Aaa p.E313K MAGEA3_uc004fgp.3_Missense_Mutation_p.E313K NM_005362 NP_005353 P43357 MAGA3_HUMAN Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA. 313 endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) ACTCACTCTTCCCCCTCTCTC 0.572000 77 62 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47247070 47247070 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:47247070C>T uc002ion.2 + 10 1740 c.1681C>T c.(1681-1683)Cat>Tat p.H561Y B4GALNT2_uc010wlt.1_Missense_Mutation_p.H475Y|B4GALNT2_uc010wlu.1_Missense_Mutation_p.H501Y NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 561 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CTTCAAGAACCATCTCCAATG 0.517000 54 5 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114326902 114326902 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:114326902C>T uc003ynu.3 - 1 458 c.299G>A c.(298-300)cGa>cAa p.R100Q CSMD3_uc003ynt.3_Missense_Mutation_p.R60Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R100Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R100Q|CSMD3_uc003ynx.4_Missense_Mutation_p.R100Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 100 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATTCTATTTCGTTCTTCTGC 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 47 17 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836141 12836141 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:12836141T>A uc001aui.3 + 1 770 c.743T>A c.(742-744)cTa>cAa p.L248Q NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 248 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCATTCCCCTAGACAGGAAG 0.498000 106 21 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69179937 69179937 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:69179937G>A uc003hdx.3 - 16 2417 c.2064C>T c.(2062-2064)gaC>gaT p.D688D YTHDC1_uc003hdy.3_Silent_p.D670D NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA. 688 Arg-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ctctagggcggtctcgctctc 0.512000 13 4 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67303398 67303398 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:67303398G>A uc001dcx.3 - 9 1632 c.1576C>T c.(1576-1578)Ccc>Tcc p.P526S WDR78_uc001dcy.3_Missense_Mutation_p.P526S|WDR78_uc009waw.3_Missense_Mutation_p.P272S|WDR78_uc009wax.3_Non-coding_Transcript NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA. 526 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GTTACCATGGGATTCTTTATT 0.333000 40 13 0 0 1 0 0 C3orf14 57415 broad.mit.edu 37 3 62317022 62317022 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:62317022C>T uc003dlf.3 + 4 344 c.200C>T c.(199-201)tCa>tTa p.S67L C3orf14_uc010hnq.3_Missense_Mutation_p.S67L|C3orf14_uc003dlg.3_Missense_Mutation_p.S67L NM_020685 NP_065736 Q9HBI5 CC014_HUMAN Homo sapiens chromosome 3 open reading frame 14 (C3orf14), mRNA. 67 central_nervous_system(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) GCAGAAAAGTCACTACAGACC 0.393000 33 13 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176927535 176927535 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:176927535G>A uc001glc.3 - 9 1894 c.1682C>T c.(1681-1683)cCa>cTa p.P561L ASTN1_uc001glb.1_Missense_Mutation_p.P561L|ASTN1_uc001gld.1_Missense_Mutation_p.P561L|ASTN1_uc009wwx.1_Missense_Mutation_p.P561L NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 569 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTTTGCTGATGGATTGATGGC 0.552000 20 20 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42399518 42399518 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:42399518C>T uc002orx.3 + 11 1083 c.974C>T c.(973-975)tCt>tTt p.S325F ARHGEF1_uc002orw.1_Missense_Mutation_p.S325F|ARHGEF1_uc002ory.3_Missense_Mutation_p.S292F|ARHGEF1_uc002orz.3_Missense_Mutation_p.S163F|ARHGEF1_uc002osa.3_Missense_Mutation_p.S340F|ARHGEF1_uc002osb.3_Missense_Mutation_p.S307F|ARHGEF1_uc002osc.3_Missense_Mutation_p.S19F|ARHGEF1_uc002osd.3_5'Flank NM_004706 NP_004697 Q92888 ARHG1_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA. 325 Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CCTGGAGTCTCTCTGCACCCT 0.677000 66 29 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43891598 43891598 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:43891598C>T uc001cjk.2 + 19 2991 c.381C>T c.(379-381)ccC>ccT p.P127P SZT2_uc009vws.1_Silent_p.P969P NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 969 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GTCCTCTGCCCCCAGAGCCGA 0.602000 82 18 0 0 1 0 0 SPDYE1 285955 broad.mit.edu 37 7 44042272 44042272 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:44042272G>A uc003tjf.3 + 1 479 c.343G>A c.(343-345)Gag>Aag p.E115K POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron NM_175064 NP_778234 Q8NFV5 SPDE1_HUMAN Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA. 115 endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 TGAGGAGTCGGAGGAGGAGCC 0.592000 38 18 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30705509 30705509 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:30705509G>A uc003xil.3 - 0 1025 c.1025C>T c.(1024-1026)cCt>cTt p.P342L NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 342 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGAGTGCTGAGGATGCTTTTG 0.368000 13 15 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41712210 41712210 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:41712210T>G uc003ora.2 - 2 320 c.253A>C c.(253-255)Aac>Cac p.N85H PGC_uc021yzm.1_Missense_Mutation_p.N85H NM_002630 NP_002621 P20142 PEPC_HUMAN Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA. 85 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACCAGGAAGTTCTGGGGTGGA 0.617000 88 13 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39503160 39503160 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39503160T>G uc002hwk.1 - 4 849 c.812A>C c.(811-813)gAg>gCg p.E271A NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 271 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CTCGATGATCTCCGCCTGGTA 0.587000 111 17 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67133595 67133595 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:67133595G>A uc002jhw.1 - 2 318 c.143C>T c.(142-144)tCc>tTc p.S48F ABCA6_uc002jhy.3_Missense_Mutation_p.S46F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 48 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CATGGAACTGGAAAACAGAGC 0.368000 48 5 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969438 5969438 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5969438C>T uc010qzt.2 + 0 862 c.862C>T c.(862-864)Cct>Tct p.P288S NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATGTCATTCCTGCAGCCCT 0.483000 55 26 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45386869 45386869 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:45386869G>A uc001zun.3 - 32 4619 c.4416C>T c.(4414-4416)ttC>ttT p.F1472F DUOX2_uc010bea.3_Silent_p.F1472F NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1472 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCACTTTCTGGAAGTGCCGCT 0.627000 25 5 0 0 1 0 0 OR5B12 390191 broad.mit.edu 37 11 58207002 58207002 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:58207002G>A uc010rkh.2 - 0 645 c.623C>T c.(622-624)tCt>tTt p.S208F NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TACCAGGATAGAAAAGAGGTC 0.408000 16 12 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141289854 141289854 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:141289854C>T uc010huq.1 + 9 964 c.964C>T c.(964-966)Cct>Tct p.P322S RASA2_uc003etz.1_Missense_Mutation_p.P322S|RASA2_uc003eua.1_Missense_Mutation_p.P322S|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 322 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 CTACGTGCTTCCTTCAGAGTA 0.378000 16 5 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80640034 80640035 + Splice_Site DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:80640034_80640035CC>TT uc003khl.4 - 9 980 c.925_splice c.e9-1 p.D309_splice RNU5E-1_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 309 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CTGAAATCATCCTTTAATCAaa 0.347000 36 10 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53941624 53941624 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:53941624C>T uc002rxi.4 - 6 1096 c.991G>A c.(991-993)Gaa>Aaa p.E331K GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.E220K|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.E293K|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.E220K|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.E210K NM_001164165 NP_665862 Q2TAI4 Q2TAI4_HUMAN Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA. 328 intracellular signal transduction AGGCAATCTTCATGTCCCCCA 0.463000 29 72 0 0 1 0 0 CACNG8 59283 broad.mit.edu 37 19 54466587 54466587 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:54466587G>A uc002qcs.2 + 0 298 c.191G>A c.(190-192)gGg>gAg p.G64E NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA. 64 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGCGACGACGGGACCCCCCAC 0.697000 27 11 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35003948 35003948 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:35003948G>A uc003jjf.3 - 12 1600 c.1357C>T c.(1357-1359)Ccc>Tcc p.P453S AGXT2_uc003jje.1_Missense_Mutation_p.P106S|AGXT2_uc011com.2_Missense_Mutation_p.P378S NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA. 453 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TCTTCACGGGGAAGAGGCCGA 0.383000 OREG0016558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 65 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66857072 66857072 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:66857072C>T uc002aqc.3 - 1 356 c.224G>A c.(223-225)gGg>gAg p.G75E LCTL_uc002aqd.4_Intron|LCTL_uc010bhw.3_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 75 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AAGCACTTTCCCCTTCCCACT 0.622000 50 62 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100514036 100514036 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:100514036C>A uc003yiv.3 + 25 4103 c.3992C>A c.(3991-3993)cCc>cAc p.P1331H VPS13B_uc003yiw.3_Missense_Mutation_p.P1331H|VPS13B_uc003yiu.1_Missense_Mutation_p.P1331H|VPS13B_uc003yix.1_Missense_Mutation_p.P801H NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1331 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGGTGCTTCCCAAAATTACT 0.453000 84 16 1.67942e-08 1.69613e-08 1 1 0 DUXA 503835 broad.mit.edu 37 19 57666693 57666693 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:57666693C>T uc002qoa.1 - 4 531 c.486G>A c.(484-486)agG>agA p.R162R NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN Homo sapiens double homeobox A (DUXA), mRNA. 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CCACAGGTTCCCTTTTTCTCT 0.413000 25 10 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19780747 19780747 + Silent SNP C T T rs142079702 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:19780747C>T uc002ktt.1 + 6 2014 c.1749C>T c.(1747-1749)tcC>tcT p.S583S GATA6_uc002ktu.1_Silent_p.S583S NM_005257 NP_005248 Q92908 GATA6_HUMAN Homo sapiens GATA binding protein 6 (GATA6), mRNA. 583 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) TCACGTCCTCCGTGCGACCGG 0.667000 29 7 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167390 140167390 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140167390G>A uc003lhb.2 + 0 1515 c.1515G>A c.(1513-1515)tcG>tcA p.S505S PCDHAC2_uc003lha.2_Silent_p.S505S|PCDHAC2_uc003lgz.3_Silent_p.S505S NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 519 Cadherin 5. 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) GCGCGCTGTCGAACTACGTGT 0.682000 68 22 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592933 38592933 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:38592933G>A uc021wvo.1 - 26 4982 c.4930C>T c.(4930-4932)Cgc>Tgc p.R1644C SCN5A_uc021wvk.1_Missense_Mutation_p.R1611C|SCN5A_uc021wvl.1_Missense_Mutation_p.R1590C|SCN5A_uc021wvm.1_Missense_Mutation_p.R1626C|SCN5A_uc021wvn.1_Missense_Mutation_p.R1643C|SCN5A_uc021wvp.1_Missense_Mutation_p.R1644C|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.R1456C|SCN5A_uc021wvi.1_Missense_Mutation_p.R1510C NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1644 R -> C (in LQT3 and BRS1).|R -> H (in LQT3; dbSNP:rs28937316). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.R1644H(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGCAGCGTGCGGATCCCCTTG 0.582000 98 28 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173183 5173183 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5173183G>A uc010qyy.2 - 0 417 c.417C>T c.(415-417)acC>acT p.T139T NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 139 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGCTGGTGGGTGAAGATGT 0.483000 28 9 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411587 126411587 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:126411587C>T uc003ifj.4 + 16 13610 c.13610C>T c.(13609-13611)cCc>cTc p.P4537L FAT4_uc011cgp.2_Missense_Mutation_p.P2778L|FAT4_uc003ifi.1_Missense_Mutation_p.P2014L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4537 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCCAAAAATCCCAAAGAGGAG 0.527000 22 12 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922816 24922816 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:24922816C>A uc001ywo.3 + 0 2276 c.1802C>A c.(1801-1803)cCa>cAa p.P601Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 601 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AGCTCTCTCCCAAATTCCCAA 0.468000 71 12 0.00010058 0.000101036 1 1 0 TMEM132D 121256 broad.mit.edu 37 12 130185017 130185017 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:130185017G>A uc009zyl.1 - 1 634 c.306C>T c.(304-306)atC>atT p.I102I NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 102 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCACTTGCTCGATGGAGAAAG 0.502000 19 7 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127776 152127776 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152127776C>T uc001ezs.1 - 2 1864 c.1799G>A c.(1798-1800)gGg>gAg p.G600E NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 600 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCCTTCAGTCCCTTGGAAGTA 0.453000 158 45 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52360859 52360859 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52360859C>T uc011bef.2 + 4 951 c.690C>T c.(688-690)acC>acT p.T230T DNAH1_uc003ddt.1_Silent_p.T230T NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 230 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCCCCAAACCATCGAACAGG 0.587000 19 4 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10398360 10398360 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10398360C>T uc002gmo.3 - 36 5448 c.5354G>A c.(5353-5355)cGg>cAg p.R1785Q AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1785 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTCTTCATCCGCTCCAGATG 0.527000 59 28 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458228 12458228 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:12458228C>T uc003bwx.3 + 5 936 c.845C>T c.(844-846)tCc>tTc p.S282F PPARG_uc003bwr.3_Missense_Mutation_p.S254F|PPARG_uc003bws.3_Missense_Mutation_p.S254F|PPARG_uc003bwu.3_Missense_Mutation_p.S254F|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. 282 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) GACATGAATTCCTTAATGATG 0.448000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 14 9 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37337828 37337828 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:37337828G>A uc001caz.2 - 3 828 c.693C>T c.(691-693)ttC>ttT p.F231F GRIK3_uc001cba.1_Silent_p.F231F NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 231 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGCTGCAGTCGAAGATAATGC 0.607000 33 11 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197401903 197401903 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:197401903G>A uc003fyc.2 - 19 3088 c.2905C>T c.(2905-2907)Ctg>Ttg p.L969L KIAA0226_uc003fyd.3_Silent_p.L924L|KIAA0226_uc021xjw.1_5'Flank NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 969 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GTGGCCTCCAGGACGGCGGCT 0.677000 93 17 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76818060 76818060 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:76818060G>A uc002jvz.1 - 6 1041 c.716C>T c.(715-717)aCc>aTc p.T239I USP36_uc002jwa.1_Missense_Mutation_p.T239I|USP36_uc002jwc.1_5'UTR NM_025090 NP_079366 Q9P275 UBP36_HUMAN Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA. 239 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) ATGGACCAAGGTAGTAGCCTG 0.512000 62 28 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49548002 49548002 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49548002C>T uc021wxz.1 + 1 504 c.35C>T c.(34-36)cCc>cTc p.P12L DAG1_uc021wya.1_Missense_Mutation_p.P12L|DAG1_uc021wyb.1_Missense_Mutation_p.P12L|DAG1_uc021wyc.1_Missense_Mutation_p.P12L|DAG1_uc021wyd.1_Missense_Mutation_p.P12L|DAG1_uc021wye.1_Missense_Mutation_p.P12L|DAG1_uc021wyf.1_Missense_Mutation_p.P12L|DAG1_uc021wyg.1_Missense_Mutation_p.P12L|DAG1_uc021wyh.1_Missense_Mutation_p.P12L|DAG1_uc021wyi.1_Missense_Mutation_p.P12L|DAG1_uc021wyj.1_Missense_Mutation_p.P12L|DAG1_uc021wyk.1_Missense_Mutation_p.P12L|DAG1_uc003cxc.4_Missense_Mutation_p.P12L NM_001177643 NP_001171114 Q14118 DAG1_HUMAN Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA. 12 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) CTGCTGCTGCCCCTCTCGGGG 0.567000 47 34 0 0 1 0 0 FASTKD1 79675 broad.mit.edu 37 2 170417084 170417084 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:170417084G>A uc002uev.4 - 4 1172 c.784C>T c.(784-786)Cac>Tac p.H262Y FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.H248Y|FASTKD1_uc002uey.2_Missense_Mutation_p.H225Y NM_024622 NP_078898 Q53R41 FAKD1_HUMAN Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA. 262 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 AAATCAAGGTGGTCCACATTA 0.284000 18 11 0 0 1 0 0 HMGB4 127540 broad.mit.edu 37 1 34330088 34330088 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:34330088C>T uc021oky.1 + 0 296 c.296C>T c.(295-297)tCc>tTc p.S99F CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.S99F|HMGB4_uc001bxq.3_Missense_Mutation_p.S25F NM_145205 NP_660206 B2R4X7 B2R4X7_HUMAN Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA. 99 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTCCATCATCCTTCCTACTC 0.542000 86 16 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74154336 74154336 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:74154336G>A uc021ulp.1 - 2 993 c.675C>T c.(673-675)acC>acT p.T225T NM_014643 NP_055458 Q92618 ZN516_HUMAN Homo sapiens zinc finger protein 516 (ZNF516), mRNA. 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCCCCTGCGCGGTGATGTGGT 0.697000 20 9 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145862239 145862239 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:145862239C>T uc003lob.3 + 12 2011 c.1971C>T c.(1969-1971)gtC>gtT p.V657V TCERG1_uc003loc.3_Silent_p.V636V NM_006706 NP_006697 O14776 TCRG1_HUMAN Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA. 657 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCCATTGTCCCTCTGGAGG 0.408000 28 10 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69009423 69009423 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:69009423G>A uc003xxv.1 + 21 2567 c.2540G>A c.(2539-2541)aGc>aAc p.S847N PREX2_uc003xxu.1_Missense_Mutation_p.S847N|PREX2_uc011lez.1_Missense_Mutation_p.S782N NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 847 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGTTTCTTCAGCTTAACTGCC 0.398000 23 3 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50906820 50906820 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:50906820G>A uc003blh.3 - 1 321 c.126C>T c.(124-126)ccC>ccT p.P42P SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Silent_p.P42P NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 42 UDENN. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity p.P42S(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGATGCCCTGGGGGAATGGGT 0.662000 21 14 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39597163 39597163 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39597163G>A uc002hwq.1 - 0 434 c.11C>T c.(10-12)tCc>tTc p.S4F NM_006771 NP_006762 O76015 KRT38_HUMAN Homo sapiens keratin 38 (KRT38), mRNA. 4 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GCTGCTGTAGGAAGAGGTCAT 0.572000 42 8 0 0 1 0 0 PORCN 64840 broad.mit.edu 37 X 48369807 48369807 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:48369807C>T uc010nie.1 + 2 419 c.261C>T c.(259-261)ttC>ttT p.F87F PORCN_uc004djq.1_Silent_p.F200F|PORCN_uc004djr.1_Silent_p.F87F|PORCN_uc004djs.1_Silent_p.F87F|PORCN_uc011mlx.1_Silent_p.F16F|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Silent_p.F87F|PORCN_uc004djw.1_Silent_p.F87F NM_203475 NP_982301 Q9H237 PORCN_HUMAN Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA. 87 Leu-rich. Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCGTGCTGTTCCTCTGCCGAC 0.552000 OREG0019764 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 130 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40475946 40475946 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:40475946C>T uc001zkx.4 + 5 825 c.613C>T c.(613-615)Ctg>Ttg p.L205L BUB1B_uc010ucl.1_Silent_p.L68L NM_001211 NP_001202 O60566 BUB1B_HUMAN Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA. 205 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCGGCAAACTCTGTTGGCACT 0.413000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 59 12 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135583257 135583257 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:135583257G>A uc003lbn.2 - 6 1968 c.1746C>T c.(1744-1746)ttC>ttT p.F582F TRPC7_uc010jef.2_Silent_p.F518F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.F133F|TRPC7_uc010jeh.2_Silent_p.F521F|TRPC7_uc010jei.2_Silent_p.F466F NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 582 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AAATGACCATGAACTTGAAGA 0.463000 76 16 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131916182 131916182 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:131916182C>T uc003ytd.4 - 6 2003 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K ADCY8_uc010mds.3_Missense_Mutation_p.E583K NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 583 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.E583K(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AAGTAAGTTTCGATATTATGC 0.483000 HNSCC(32;0.087) 77 16 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434879 42434879 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:42434879G>A uc001zoz.3 - 18 2268 c.2176C>T c.(2176-2178)Cga>Tga p.R726* PLA2G4F_uc010bcq.3_Nonsense_Mutation_p.R23*|PLA2G4F_uc001zoy.3_Nonsense_Mutation_p.R358*|PLA2G4F_uc001zpa.3_Nonsense_Mutation_p.R477*|PLA2G4F_uc010bcr.3_Nonsense_Mutation_p.R477*|PLA2G4F_uc010bcs.3_Nonsense_Mutation_p.R513* NM_213600 NP_998765 Q68DD2 PA24F_HUMAN Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA. 726 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGGATTCCTCGGTCCAGGCAG 0.617000 29 54 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814722 106814722 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:106814722G>A uc003ymd.3 + 7 2435 c.2412G>A c.(2410-2412)acG>acA p.T804T ZFPM2_uc011lhs.2_Silent_p.T535T NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 804 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.T804T(2) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTTCTCTGACGATCAACAAGT 0.443000 15 6 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95394563 95394563 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:95394563C>T uc001kiu.4 + 8 1306 c.1168C>T c.(1168-1170)Ctg>Ttg p.L390L NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 390 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TGTTTTGTCCCTGCCTATTGT 0.383000 31 6 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166058 193166058 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:193166058C>T uc003ftd.3 - 17 2197 c.2089G>A c.(2089-2091)Gaa>Aaa p.E697K ATP13A4_uc003fte.1_Missense_Mutation_p.E697K|ATP13A4_uc011bsr.1_Missense_Mutation_p.E168K|ATP13A4_uc010hzi.3_Non-coding_Transcript NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 697 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TTTGTCTCTTCCTTCAATCGA 0.388000 45 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249284 140249284 + Missense_Mutation SNP C T T rs10071369 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140249284C>T uc003lia.2 + 0 1454 c.596C>T c.(595-597)tCt>tTt p.S199F 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.S199F NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 214 Cadherin 2. 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) TTAAAGAAGTCTCTGGATAGA 0.403000 38 7 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19027793 19027793 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:19027793G>A uc002dfp.2 + 2 463 c.333G>A c.(331-333)atG>atA p.M111I TMC7_uc010vao.1_Missense_Mutation_p.M111I|TMC7_uc002dfq.3_Missense_Mutation_p.M111I|TMC7_uc010vap.2_Missense_Mutation_p.M1I NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 111 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 AGACACAAATGAAGTATCTCT 0.498000 28 7 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744344 81744344 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:81744344C>T uc010tvu.2 - 3 1509 c.1311G>A c.(1309-1311)aaG>aaA p.K437K STON2_uc001xvk.1_Silent_p.K437K|STON2_uc010tvt.2_Silent_p.K234K NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 437 SHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGATGTTTTTCTTCTCAGGGA 0.527000 62 101 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73720551 73720551 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:73720551C>T uc010ttx.2 + 10 1347 c.1184C>T c.(1183-1185)gCc>gTc p.A395V PAPLN_uc001xnw.4_Missense_Mutation_p.A368V|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.A395V NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 395 TSP type-1 3. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TCTGACGGGGCCGGCATCCAG 0.687000 24 41 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14022128 14022128 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:14022128C>T uc003wwq.3 - 4 1168 c.508G>A c.(508-510)Gat>Aat p.D170N SGCZ_uc010lss.3_Missense_Mutation_p.D123N NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 157 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GTAATCTCATCTTCATCTGCA 0.413000 34 17 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36298439 36298439 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:36298439G>A uc003oly.3 - 1 207 c.29C>T c.(28-30)cCc>cTc p.P10L NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 10 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CTCCGCCAGGGGCCTCCTTGG 0.557000 92 24 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96384281 96384281 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:96384281C>T uc001tem.1 - 9 1042 c.745G>A c.(745-747)Gga>Aga p.G249R HAL_uc010sux.1_Missense_Mutation_p.G249R|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.G41R NM_002108 NP_002099 P42357 HUTH_HUMAN Homo sapiens histidine ammonia-lyase (HAL), mRNA. 249 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CCAACGGTTCCTTTCTCTGGG 0.542000 25 23 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157527315 157527315 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:157527315C>T uc003qqp.3 + 18 5001 c.5001C>T c.(4999-5001)ctC>ctT p.L1667L ARID1B_uc003qqo.3_Silent_p.L1680L|ARID1B_uc003qqn.3_Silent_p.L1720L NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1667 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CTGGATTTCTCGAACTTTTAG 0.418000 141 67 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94181669 94181669 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:94181669C>T uc003uni.4 + 15 2191 c.1964C>T c.(1963-1965)tCc>tTc p.S655F CASD1_uc003unj.4_Missense_Mutation_p.S655F NM_022900 NP_075051 Q96PB1 CASD1_HUMAN Homo sapiens CAS1 domain containing 1 (CASD1), mRNA. 655 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TAGACCTATTCCATCTGGGCT 0.348000 72 9 0 0 1 0 0 GGT6 124975 broad.mit.edu 37 17 4461943 4461943 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:4461943C>T uc010vsc.2 - 3 927 c.867G>A c.(865-867)ggG>ggA p.G289G GGT6_uc010vsb.2_Silent_p.G135G|GGT6_uc002fyd.4_Silent_p.G283G|GGT6_uc002fyc.4_Silent_p.G251G NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA. 283 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GCACCTCCACCCCCAGGTCTC 0.652000 8 4 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645520 122645520 + Silent SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:122645520T>C uc003efz.1 - 8 1159 c.855A>G c.(853-855)ccA>ccG p.P285P SEMA5B_uc011bju.1_Silent_p.P227P|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.P285P|SEMA5B_uc010hro.1_Silent_p.P227P|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 285 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CCACGAAGTTTGGCTCTGGGT 0.582000 44 7 0 0 1 0 0 DLX4 1748 broad.mit.edu 37 17 48046976 48046976 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48046976C>T uc002ipv.3 + 0 415 c.144C>T c.(142-144)tcC>tcT p.S48S NM_138281 NP_612138 Q92988 DLX4_HUMAN Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA. 48 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 TGTCCTACTCCAGGCCGTATG 0.652000 230 38 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359494 70359494 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:70359494C>T uc003hek.4 - 1 834 c.787G>A c.(787-789)Gat>Aat p.D263N UGT2B4_uc011cap.2_Missense_Mutation_p.D127N|UGT2B4_uc003hel.4_Missense_Mutation_p.D263N NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 263 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AATTGAAAATCCCAGTAGTTT 0.418000 51 47 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9785072 9785072 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:9785072G>A uc003gmb.4 + 0 1815 c.1419G>A c.(1417-1419)ccG>ccA p.P473P NM_000798 NP_000789 P21918 DRD5_HUMAN Homo sapiens dopamine receptor D5 (DRD5), mRNA. 473 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.P473P(4) 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) CTTTCACCCCGAATGGATTCC 0.488000 9 21 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127566451 127566451 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:127566451A>G uc004bov.3 + 5 1111 c.998A>G c.(997-999)aAc>aGc p.N333S OLFML2A_uc010mwr.1_Missense_Mutation_p.N297S|OLFML2A_uc004bow.3_Missense_Mutation_p.N119S NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA. 333 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 GCAGAGCCCAACTCCGCAGAG 0.652000 39 9 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2087431 2087431 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:2087431C>T uc003ger.2 - 18 2118 c.2106G>A c.(2104-2106)caG>caA p.Q702Q POLN_uc010icg.1_Silent_p.Q150Q|POLN_uc010ich.1_Silent_p.Q234Q NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN Homo sapiens polymerase (DNA directed) nu (POLN), mRNA. 702 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GGGCAGCTTCCTGAATAGGAA 0.527000 DNA polymerases (catalytic subunits) 189 41 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127540619 127540619 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:127540619G>A uc003ejx.3 - 1 188 c.43C>T c.(43-45)Ccc>Tcc p.P15S MGLL_uc003ejw.3_Missense_Mutation_p.P25S|MGLL_uc011bko.2_Missense_Mutation_p.P25S|MGLL_uc010hsp.1_Missense_Mutation_p.P15S NM_001003794 NP_001003794 Q99685 MGLL_HUMAN Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA. 15 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 TCCTGGTAGGGAATGCTCTGC 0.527000 90 21 0 0 1 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186908283 186908283 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:186908283G>A uc001gsc.3 + 8 1044 c.839G>A c.(838-840)tGg>tAg p.W280* PLA2G4A_uc010pos.2_Nonsense_Mutation_p.W220* NM_024420 NP_077734 P47712 PA24A_HUMAN Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA. 280 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GAGTCTTTATGGAAGAAGAAA 0.358000 33 23 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57271003 57271003 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:57271003C>T uc002ixf.2 + 4 865 c.553C>T c.(553-555)Cct>Tct p.P185S PRR11_uc021uar.1_Non-coding_Transcript NM_018304 NP_060774 Q96HE9 PRR11_HUMAN Homo sapiens proline rich 11 (PRR11), mRNA. 185 Pro-rich. breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) CAGCCATTTtcctcctcctcc 0.552000 60 9 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141059772 141059772 + Silent SNP G A A rs146312944 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:141059772G>A uc003llm.3 - 1 360 c.282C>T c.(280-282)ccC>ccT p.P94P ARAP3_uc003lln.3_Silent_p.P16P|ARAP3_uc003llo.1_Silent_p.P94P NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 94 Pro-rich. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GCTTCGGCACGGGCTTAGGGG 0.652000 80 14 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49425497 49425497 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:49425497G>A uc001rta.4 - 38 12991 c.12991C>T c.(12991-12993)Ccc>Tcc p.P4331S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 4331 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GCCTCAGTGGGAAGCTGGGAG 0.632000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 19 6 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961444 1961444 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:1961444T>G uc010gaj.3 - 2 532 c.290A>C c.(289-291)aAg>aCg p.K97T AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.K97T|PDYN_uc021vzt.1_Missense_Mutation_p.K97T|PDYN_uc021vzu.1_Missense_Mutation_p.K97T|PDYN_uc002wfv.3_Missense_Mutation_p.K97T NM_001190892 NP_077722 P01213 PDYN_HUMAN Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA. 97 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCAGAGAGCTTGGCCAGCTC 0.532000 43 28 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049243 42049243 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:42049243G>A uc001cgz.4 - 3 2439 c.1226C>T c.(1225-1227)aCc>aTc p.T409I HIVEP3_uc001cha.4_Missense_Mutation_p.T409I|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 409 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTTGGCGTTGGTGTTTGGGGG 0.602000 72 12 0 0 1 0 0 RIOK1 83732 broad.mit.edu 37 6 7404246 7404246 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:7404246C>T uc003mxn.3 + 8 1014 c.840C>T c.(838-840)atC>atT p.I280I RIOK1_uc003mxo.3_Silent_p.I39I NM_031480 NP_694550 Q9BRS2 RIOK1_HUMAN Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA. 280 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) TGAGTTTCATCGGTAAAGATG 0.338000 95 21 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197397047 197397047 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:197397047C>T uc001gtz.3 + 6 2801 c.2592C>T c.(2590-2592)ttC>ttT p.F864F CRB1_uc010poz.2_Silent_p.F795F|CRB1_uc009wza.3_Silent_p.F752F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F345F|CRB1_uc001gub.1_Silent_p.F513F NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 864 Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATCTGGAATTCTTTCCAAATC 0.408000 35 16 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69639608 69639608 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:69639608C>T uc004dyg.3 + 29 3613 c.3470C>T c.(3469-3471)cCc>cTc p.P1157L KIF4A_uc010nkw.3_Missense_Mutation_p.P1157L NM_012310 NP_036442 O95239 KIF4A_HUMAN Homo sapiens kinesin family member 4A (KIF4A), mRNA. 1157 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TTCTTTAATCCCGTCTGTGCC 0.517000 13 33 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430047 135430047 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:135430047G>A uc004ezu.1 + 5 4473 c.4182G>A c.(4180-4182)gtG>gtA p.V1394V GPR112_uc010nsb.1_Silent_p.V1189V|GPR112_uc010nsc.1_Silent_p.V1161V NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1394 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCAGGACTGTGGAAATGATAG 0.448000 80 24 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101580612 101580612 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:101580612C>T uc010yvt.1 + 7 888 c.886C>T c.(886-888)Cgt>Tgt p.R296C NPAS2_uc002tap.1_Missense_Mutation_p.R231C NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 231 PAS 2. central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGCCACCGTTCGTCTGGCAAC 0.478000 29 19 0 0 1 0 0 INTS4L1 285905 broad.mit.edu 37 7 64646884 64646884 + RNA SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:64646884T>C uc003ttw.3 + 7 c.1134T>C Homo sapiens integrator complex subunit 4-like 1 (INTS4L1), non-coding RNA. GTTCCTGCCTTGAGGGTATGT 0.423000 40 5 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 54060070 54060070 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:54060070G>A uc001cvr.1 - 2 1073 c.506C>T c.(505-507)cCc>cTc p.P169L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 169 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 CTGAGACAGGGGATAGGGGGG 0.692000 13 8 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216405327 216405327 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:216405327G>A uc001hku.1 - 13 3348 c.2961C>T c.(2959-2961)gaC>gaT p.D987D USH2A_uc001hkv.3_Silent_p.D987D NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 987 Laminin EGF-like 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.K986I(1)|p.D987N(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAAGTAATGGTCTTTGCATT 0.388000 HNSCC(13;0.011) 107 18 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198711126 198711126 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:198711126C>T uc001gur.1 + 23 2706 c.2526C>T c.(2524-2526)ttC>ttT p.F842F PTPRC_uc001gut.1_Silent_p.F681F NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 842 Tyrosine-protein phosphatase 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TCAGCAATTTCTTCAGTGGTC 0.473000 21 12 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105151336 105151336 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:105151336C>T uc001tkz.3 + 2 1312 c.814C>T c.(814-816)Cac>Tac p.H272Y CHST11_uc001tky.3_Missense_Mutation_p.H267Y NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA. 272 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 CTGCCACATCCACTATGACCT 0.557000 24 8 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25665134 25665134 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:25665134G>A uc011awn.1 - 20 2642 c.2599C>T c.(2599-2601)Ccc>Tcc p.P867S TOP2B_uc003cdj.2_Missense_Mutation_p.P862S|TOP2B_uc021wug.1_Missense_Mutation_p.P862S NM_001068 NP_001059 Q02880 TOP2B_HUMAN Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA. 867 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 AAAACCATGGGAATTATAGGA 0.403000 39 11 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130694321 130694321 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:130694321C>A uc011bli.2 + 16 1957 c.1661C>A c.(1660-1662)gCg>gAg p.A554E ATP2C1_uc011blg.2_Missense_Mutation_p.A554E|ATP2C1_uc011blh.2_Missense_Mutation_p.A515E|ATP2C1_uc003enk.3_Missense_Mutation_p.A504E|ATP2C1_uc003enl.3_Missense_Mutation_p.A520E|ATP2C1_uc003enm.3_Missense_Mutation_p.A520E|ATP2C1_uc003enn.3_Missense_Mutation_p.A504E|ATP2C1_uc003eno.3_Missense_Mutation_p.A520E|ATP2C1_uc003enp.3_Missense_Mutation_p.A520E|ATP2C1_uc003ent.3_Missense_Mutation_p.A520E|ATP2C1_uc003ens.3_Missense_Mutation_p.A520E|ATP2C1_uc003enu.3_Missense_Mutation_p.A198E NM_001199180 NP_001186109 P98194 AT2C1_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA. 520 ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) ATGGGCTCAGCGGGACTCAGA 0.473000 Hailey-Hailey disease 23 7 0.00307968 0.00308475 1 1 0 ABCA7 10347 broad.mit.edu 37 19 1057385 1057385 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:1057385C>T uc002lqw.4 + 34 5068 c.4837C>T c.(4837-4839)Cct>Tct p.P1613S ABCA7_uc002lqy.3_Missense_Mutation_p.P84S|ABCA7_uc010dsc.3_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 1613 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATATGTGGCCCCTGCCAACCT 0.542000 68 26 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108691661 108691661 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:108691661G>A uc003kos.4 - 6 1939 c.1719C>T c.(1717-1719)ttC>ttT p.F573F NM_014819 NP_055634 O43164 PJA2_HUMAN Homo sapiens praja ring finger 2 (PJA2), mRNA. 573 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TGTAGGTAAGGAACTGAGGAT 0.373000 40 30 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 158261980 158261980 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:158261980C>T uc003fbt.3 + 9 1032 c.921C>T c.(919-921)atC>atT p.I307I RSRC1_uc003fbv.3_Silent_p.I249I NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 307 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding p.I307M(2) cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AGTTATTTATCGAGAAAGCTG 0.333000 50 27 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762616 130762616 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:130762616C>T uc003qcb.3 + 1 3427 c.1049C>T c.(1048-1050)tCc>tTc p.S350F TMEM200A_uc003qca.3_Missense_Mutation_p.S350F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S350F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S350F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S350F NM_052913 NP_443145 Q86VY9 T200A_HUMAN Homo sapiens transmembrane protein 200A (TMEM200A), mRNA. 350 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGGAATAATTCCATTGGGGAG 0.522000 15 11 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611576 61611576 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:61611576C>T uc002jay.3 + 4 1085 c.1005C>T c.(1003-1005)cgC>cgT p.R335R KCNH6_uc002jax.1_Silent_p.R335R|KCNH6_uc010wpl.2_Silent_p.R212R|KCNH6_uc010wpm.2_Silent_p.R335R|KCNH6_uc002jaz.1_Silent_p.R335R NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 335 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCCACCCCCGCCGCATCGCCG 0.567000 63 15 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33624432 33624432 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:33624432C>T uc003jia.1 - 13 2210 c.2047G>A c.(2047-2049)Gat>Aat p.D683N ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 683 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCATTGGAATCGATCTCATAG 0.527000 HNSCC(64;0.19) 33 7 0 0 1 0 0 IL12A 3592 broad.mit.edu 37 3 159707958 159707958 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:159707958C>T uc003fcx.3 + 1 344 c.123C>T c.(121-123)ctC>ctT p.L41L AK097161_uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. 7 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTCCAGGCCTCCTCCTTGTGG 0.602000 36 20 0 0 1 0 0 FAM160B1 57700 broad.mit.edu 37 10 116606080 116606080 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:116606080C>T uc001lcb.3 + 9 1687 c.1352C>T c.(1351-1353)cCt>cTt p.P451L FAM160B1_uc001lcc.3_Missense_Mutation_p.P451L NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA. 451 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 AGCAGACATCCTTTAAGGCAT 0.378000 33 25 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46259804 46259804 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:46259804G>A uc002ini.1 - 7 695 c.583C>T c.(583-585)Cca>Tca p.P195S SKAP1_uc002inj.1_Missense_Mutation_p.P195S|SKAP1_uc010dbd.1_Missense_Mutation_p.P101S|SKAP1_uc010dbe.1_Missense_Mutation_p.P195S NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA. 195 PH. T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|plasma membrane SH2 domain binding|antigen binding|protein kinase binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 GCTTCTGCTGGACTAGTAGCT 0.378000 106 83 0 0 1 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482500 152482500 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:152482500G>A uc022chs.1 - 0 511 c.511C>T c.(511-513)Ctt>Ttt p.L171F MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F NM_004988 NP_004979 P43355 MAGA1_HUMAN Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA. 171 MAGE. cytoplasm|plasma membrane p.L171F(2) breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGGTGACAAGGACATAGGAG 0.517000 17 81 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431577 38431577 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:38431577G>A uc003tgu.3 - 18 1866 c.1650C>T c.(1648-1650)aaC>aaT p.N550N AMPH_uc003tgv.3_Silent_p.N508N|AMPH_uc003tgt.3_Silent_p.N435N|AMPH_uc003tgw.1_Silent_p.N573N|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 550 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CCTCTTCATGGTTGGAGGCAG 0.587000 45 22 0 0 1 0 0 CSNK1G2 1455 broad.mit.edu 37 19 1978999 1978999 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:1978999G>A uc002lul.4 + 5 1111 c.589G>A c.(589-591)Gac>Aac p.D197N CSNK1G2_uc010dsu.3_Missense_Mutation_p.D149N NM_001319 NP_001310 P78368 KC1G2_HUMAN Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA. 197 Protein kinase. Wnt receptor signaling pathway|sphingolipid metabolic process cytosol ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGTACATCGACCCCGAGAC 0.642000 36 11 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106970922 106970922 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:106970922G>A uc001kyi.1 + 16 2516 c.2289G>A c.(2287-2289)gaG>gaA p.E763E SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 763 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) GACATGGGGAGAGCCAGTGTG 0.448000 19 6 0 0 1 0 0 MORN5 254956 broad.mit.edu 37 9 124936863 124936863 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:124936863G>A uc011lyn.2 + 3 458 c.396G>A c.(394-396)acG>acA p.T132T MORN5_uc011lyo.1_Missense_Mutation_p.R95Q|MORN5_uc004blw.2_Silent_p.T132T NM_198469 NP_940871 Q5VZ52 MORN5_HUMAN Homo sapiens MORN repeat containing 5 (MORN5), mRNA. 132 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 ACCCAGTCACGAGGGTAGTCA 0.468000 39 29 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98508732 98508732 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:98508732C>T uc003upp.3 + 16 2054 c.1845C>T c.(1843-1845)atC>atT p.I615I TRRAP_uc011kis.2_Silent_p.I615I|TRRAP_uc003upr.3_Silent_p.I307I NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 615 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGACATACATCCGTGTGGCCA 0.453000 28 21 0 0 1 0 0 SLC26A3 1811 broad.mit.edu 37 7 107430113 107430114 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:107430113_107430114CC>TT uc003ver.2 - 5 801_802 c.590_591GG>AA c.(589-591)cgg>cAA p.R197Q SLC26A3_uc003ves.2_Missense_Mutation_p.R162Q NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 197 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CAAATCCAATCCGCAGAATCCC 0.416000 14 5 0 0 1 0 0 TCTN3 26123 broad.mit.edu 37 10 97452723 97452723 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:97452723G>A uc001klb.4 - 2 697 c.453C>T c.(451-453)ttC>ttT p.F151F TCTN3_uc010qoi.2_Silent_p.F151F|TCTN3_uc001kld.3_Silent_p.F169F|TCTN3_uc009xux.1_5'UTR|TCTN3_uc009xuy.1_Non-coding_Transcript NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA. 151 apoptosis integral to membrane p.E151Q(1) breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) TAGAATCCATGAAAACTCTTG 0.398000 20 9 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7574003G>A uc002gim.2 - 9 1218 c.1024C>T c.(1024-1026)Cga>Tga p.R342* TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCAGCTCTCGGAACATCTCG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 13 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61926616 61926616 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:61926616C>T uc001jky.3 - 21 2855 c.2517G>A c.(2515-2517)acG>acA p.T839T ANK3_uc001jkx.3_Silent_p.T17T|ANK3_uc010qih.2_Silent_p.T822T|ANK3_uc001jkz.4_Silent_p.T833T|ANK3_uc001jlb.1_Silent_p.T368T|ANK3_uc001jlc.1_Silent_p.T500T NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 839 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTTCATTCATCGTTTCTGGAA 0.333000 26 18 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79803104 79803104 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:79803104G>A uc002kbn.1 - 9 1559 c.1362C>T c.(1360-1362)gtC>gtT p.V454V P4HB_uc002kbl.1_Silent_p.V131V|P4HB_uc002kbm.1_Silent_p.V131V NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 454 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.T453A(1) NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TGTAATCAATGACCTGTGGAA 0.597000 24 3 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7605836 7605836 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7605836C>T uc010vuh.2 + 7 1285 c.1130C>T c.(1129-1131)cCc>cTc p.P377L WRAP53_uc010vui.2_Missense_Mutation_p.P377L|WRAP53_uc002gip.3_Missense_Mutation_p.P377L|WRAP53_uc002gir.3_Missense_Mutation_p.P377L|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.P344L|EFNB3_uc002gis.3_5'Flank NM_001143990 NP_060551 Q9BUR4 WAP53_HUMAN Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA. 377 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex RNA binding|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TGCTTTCATCCCGATGGCAAC 0.642000 7 10 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103358598 103358598 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:103358598G>A uc003ykr.2 - 6 1057 c.602C>T c.(601-603)tCc>tTc p.S201F UBR5_uc003yks.2_Missense_Mutation_p.S201F NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 201 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GACACTTCTGGATTTGCCTTG 0.333000 71 14 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10822290 10822290 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:10822290G>A uc001mjb.3 - 15 2166 c.1014C>T c.(1012-1014)ctC>ctT p.L338L EIF4G2_uc009ygf.3_Silent_p.L544L|EIF4G2_uc001mjc.3_Silent_p.L338L|EIF4G2_uc001mjd.3_Silent_p.L506L NM_001418 NP_001409 P78344 IF4G2_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA. 544 RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTAGTTTAAGGAGTTCTTCCT 0.383000 50 9 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17939556 17939556 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:17939556T>C uc001ban.3 + 7 772 c.613T>C c.(613-615)Tct>Cct p.S205P ARHGEF10L_uc009vpe.1_Intron|ARHGEF10L_uc001bao.3_Intron|ARHGEF10L_uc001bap.3_Intron|ARHGEF10L_uc010ocr.1_Intron|ARHGEF10L_uc001baq.3_5'Flank NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 205 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GCTCCAGCTTTCTCCAGACCT 0.547000 131 21 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117768518 117768518 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:117768518G>A uc001twn.2 - 1 1068 c.357C>T c.(355-357)acC>acT p.T119T NOS1_uc001twm.2_Silent_p.T119T NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 119 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TCACCCGGATGGTCTTGGGGG 0.637000 39 15 0 0 1 0 0 C16orf89 146556 broad.mit.edu 37 16 5110367 5110367 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:5110367C>T uc010bud.3 - 2 666 c.429G>A c.(427-429)ttG>ttA p.L143L ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.L143L NM_152459 NP_689672 Q6UX73 CP089_HUMAN Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA. 143 extracellular region p.L181L(2)|p.Q142*(1)|p.L143L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 TGGGGTACACCAAGGAGGCAT 0.617000 37 17 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197193 44197193 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:44197193C>T uc003oww.1 + 3 525 c.333C>T c.(331-333)ttC>ttT p.F111F SLC29A1_uc021yzw.1_Silent_p.F32F|SLC29A1_uc011dvp.1_Silent_p.F51F|SLC29A1_uc003owu.1_Silent_p.F32F|SLC29A1_uc003owv.1_Silent_p.F32F|SLC29A1_uc011dvq.1_Silent_p.F74F|SLC29A1_uc003owx.1_Silent_p.F32F|SLC29A1_uc003owy.1_Silent_p.F32F|SLC29A1_uc003owz.1_Silent_p.F32F|SLC29A1_uc021yzx.1_Silent_p.F32F NM_004955 NP_004946 Q99808 S29A1_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 32 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) GGAATTTTTTCATGACGGCCA 0.552000 42 38 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58467161 58467161 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:58467161G>A uc002aez.2 + 3 778 c.421G>A c.(421-423)Gaa>Aaa p.E141K ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.E76K NM_020980 NP_066190 O43315 AQP9_HUMAN Homo sapiens aquaporin 9 (AQP9), mRNA. 141 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) GATCGTGGGAGAAAATGCAAC 0.443000 32 44 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86010722 86010722 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:86010722G>A uc003dql.3 + 6 874 c.874G>A c.(874-876)Gat>Aat p.D292N CADM2_uc003dqj.3_Missense_Mutation_p.D290N|CADM2_uc003dqk.3_Missense_Mutation_p.D299N|CADM2_uc003dqm.2_Missense_Mutation_p.D182N|CADM2_uc021xay.1_Missense_Mutation_p.D182N|CADM2_uc021xaz.1_Missense_Mutation_p.D182N|CADM2_uc021xba.1_Missense_Mutation_p.D182N NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 290 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAACAAAACGGATAATGGTAC 0.418000 43 15 0 0 1 0 0 GK 2710 broad.mit.edu 37 4 166199844 166199844 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:166199844C>T uc003ird.3 - 0 1332 c.954G>A c.(952-954)ttG>ttA p.L318L KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron NM_000167 NP_000158 P32189 GLPK_HUMAN Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA. 324 glycerol-3-phosphate metabolic process|triglyceride biosynthetic process cytosol|mitochondrial outer membrane ATP binding|glycerol kinase activity central_nervous_system(1)|large_intestine(3) 4 CAGAACCTTCCAAAGCGTAAT 0.398000 35 15 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14487582 14487582 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:14487582C>T uc003jff.3 + 47 6851 c.6845C>T c.(6844-6846)tCg>tTg p.S2282L TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.S1931L NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2282 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCCTTGACATCGCCAATCGAG 0.736000 21 26 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31294925 31294925 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:31294925G>A uc021sia.1 - 26 4343 c.4029C>T c.(4027-4029)ttC>ttT p.F1343F TRPM1_uc010azy.3_Silent_p.F1211F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F1326F|TRPM1_uc001zfm.3_Silent_p.F1304F NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 1304 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCTTTATACGGAAGGAACAGG 0.453000 69 40 0 0 1 0 0 KLHDC1 122773 broad.mit.edu 37 14 50176463 50176463 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:50176463C>T uc001www.3 + 2 294 c.204C>T c.(202-204)tcC>tcT p.S68S NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Missense_Mutation_p.P32L|KLHDC1_uc010tqh.2_Silent_p.S11S NM_172193 NP_751943 Q8N7A1 KLDC1_HUMAN Homo sapiens kelch domain containing 1 (KLHDC1), mRNA. 68 cytoplasm kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12 all_epithelial(31;0.00244)|Breast(41;0.00964) TCCCAGCCTCCATGTCAGGAA 0.388000 10 22 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 36816 36816 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrGL000241.1:36816C>T uc011mgv.2 - 0 c.60G>A Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. AGGCTGAAGCCGGCTCAGGAC 0.582000 18 3 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247766 56247766 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:56247766C>T uc010wnp.2 + 0 750 c.750C>T c.(748-750)atC>atT p.I250I NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TTTCCATGATCTTCGTTCCAA 0.537000 100 37 0 0 1 0 0 LOC440041 440041 broad.mit.edu 37 11 55065549 55065549 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:55065549G>A uc021qjb.1 - 0 c.160C>T LOC440041_uc001nhl.1_Non-coding_Transcript Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA. ACAAATGTCAGTGTTGAGGTT 0.478000 9 9 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35644898 35644898 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:35644898C>T uc021rid.1 + 9 2014 c.1480C>T c.(1480-1482)Cat>Tat p.H494Y NBEA_uc021ric.1_Missense_Mutation_p.H494Y NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 494 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.H494Y(2) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGTGCAATTCATTCAATTGG 0.333000 33 13 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798958 212798958 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:212798958G>A uc010pth.1 - 0 c.1156C>T FAM71A_uc001hjk.3_Missense_Mutation_p.D247N Q8IYT1 FA71A_HUMAN Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) ACTCCAAAATGACTTTAACAA 0.537000 83 70 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153190634 153190634 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:153190634C>T uc011dcy.2 + 15 2627 c.2600C>T c.(2599-2601)tCg>tTg p.S867L GRIA1_uc003lva.4_Missense_Mutation_p.S857L|GRIA1_uc003luy.4_Missense_Mutation_p.S857L|GRIA1_uc003luz.4_Missense_Mutation_p.S762L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S777L|GRIA1_uc011dcx.2_Missense_Mutation_p.S788L|GRIA1_uc011dcz.2_Missense_Mutation_p.S867L NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 857 AGA -> TAP (in Ref. 1; AAA58613). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.G866*(1)|p.A867S(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATACGGACATCGACCCTCCCC 0.587000 44 35 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81061902 81061902 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:81061902C>T uc001kaf.2 + 17 2630 c.2058C>T c.(2056-2058)tcC>tcT p.S686S ZMIZ1_uc001kag.2_Silent_p.S562S NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 686 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ACCGGCCCTCCGTCCGCTCTG 0.647000 158 34 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200869279 200869279 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:200869279A>T uc001gvo.3 + 3 525 c.483A>T c.(481-483)gaA>gaT p.E161D C1orf106_uc010ppm.2_Missense_Mutation_p.E76D NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 161 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 AACCAGGGGAAAAGGCCCCCA 0.622000 26 10 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952886 119952886 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:119952886G>A uc010inb.3 + 3 3152 c.2956G>A c.(2956-2958)Gat>Aat p.D986N SYNPO2_uc010ina.3_Missense_Mutation_p.D986N|SYNPO2_uc003icm.4_Missense_Mutation_p.D986N|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.D914N|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 986 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGATGCAAAGGATGGCCTCCC 0.498000 25 16 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124359881 124359881 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:124359881G>A uc001uft.4 + 45 7713 c.7688G>A c.(7687-7689)cGa>cAa p.R2563Q NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2563 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAAAGCATTCGAGACCTTGGC 0.468000 18 4 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45691461 45691461 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:45691461G>A uc003bfy.3 + 5 752 c.725G>A c.(724-726)gGg>gAg p.G242E UPK3A_uc010gzy.3_Missense_Mutation_p.G121E NM_006953 NP_008884 O75631 UPK3A_HUMAN Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. 242 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) AGTTCTGATGGGGAAACGACT 0.582000 206 26 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10569321 10569321 + Missense_Mutation SNP G A A rs138941727 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:10569321G>A uc001qyi.1 - 4 577 c.532C>T c.(532-534)Cgt>Tgt p.R178C KLRC2_uc001qyf.3_Missense_Mutation_p.R178C|KLRC2_uc021qvc.1_Missense_Mutation_p.R178C|KLRC2_uc001qyh.3_Missense_Mutation_p.R178C|KLRC2_uc021qvd.1_Missense_Mutation_p.R178C NM_007333 NP_031359 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA. 177 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity p.R178C(1) kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CTGCTGTTACGAAACACACCA 0.294000 27 4 0 0 1 0 0 DPPA3 359787 broad.mit.edu 37 12 7868018 7868018 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7868018C>T uc001qtf.3 + 1 400 c.322C>T c.(322-324)Cgt>Tgt p.R108C NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 108 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) CGGCGGAGTTCGTACGGTATG 0.483000 30 11 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 401995 401995 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:401995C>T uc003bot.3 + 11 1836 c.1194C>T c.(1192-1194)ttC>ttT p.F398F CHL1_uc003bou.3_Silent_p.F382F|CHL1_uc003bow.2_Silent_p.F382F|CHL1_uc011asi.2_Silent_p.F398F NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 382 Ig-like C2-type 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATGTTGTCTTCCCCAGGGAAA 0.373000 46 13 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13214639 13214639 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:13214639C>T uc001ima.3 + 4 597 c.469C>T c.(469-471)Cgg>Tgg p.R157W MCM10_uc001imb.3_Missense_Mutation_p.R156W|MCM10_uc001imc.3_Missense_Mutation_p.R156W NM_182751 NP_877428 Q7L590 MCM10_HUMAN Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA. 157 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GAAGTCTCCCCGGCCACCTCT 0.463000 20 8 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38482239 38482239 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:38482239G>A uc010ive.1 - 19 3084 c.2752C>T c.(2752-2754)Cct>Tct p.P918S LIFR_uc003jli.2_Missense_Mutation_p.P918S NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 918 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TCTATTTTAGGAAATGCTGAT 0.398000 T PLAG1 salivary adenoma 74 17 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46305627 46305627 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:46305627C>T uc011bzc.1 - 6 953 c.541G>A c.(541-543)Gaa>Aaa p.E181K GABRA2_uc003gxc.3_Missense_Mutation_p.E236K|GABRA2_uc010igc.2_Missense_Mutation_p.E236K|GABRA2_uc003gxe.3_Missense_Mutation_p.E236K P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 236 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACAGTATATTCACCTGGAAGA 0.343000 34 8 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6904145 6904145 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:6904145C>T uc002mfw.3 + 7 939 c.901C>T c.(901-903)Cat>Tat p.H301Y EMR1_uc010dvc.3_Missense_Mutation_p.H301Y|EMR1_uc010dvb.3_Missense_Mutation_p.H249Y|EMR1_uc010xji.2_Missense_Mutation_p.H160Y|EMR1_uc010xjj.2_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 301 EGF-like 6; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGCAGGCTTTCATCCCAATCC 0.473000 36 10 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29935384 29935384 + Silent SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:29935384G>C uc003afr.3 - 6 869 c.534C>G c.(532-534)gtC>gtG p.V178V THOC5_uc003afs.3_Silent_p.V178V|THOC5_uc003aft.3_Silent_p.V178V|THOC5_uc003afu.3_Silent_p.V178V|THOC5_uc003afv.1_Silent_p.V178V|THOC5_uc003afw.1_Silent_p.V80V NM_001002878 NP_003669 Q13769 THOC5_HUMAN Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA. 178 Interaction with THOC7. RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton RNA binding|protein binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTCCCATGGTGACTTCGGCCT 0.483000 33 33 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35804452 35804452 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:35804452C>T uc003anu.4 + 5 742 c.648C>T c.(646-648)ccC>ccT p.P216P MCM5_uc003anv.4_Silent_p.P173P|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_5'Flank NM_006739 NP_006730 P33992 MCM5_HUMAN Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA. 216 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 MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 TCATCATGCCCGACAAATGCA 0.557000 54 16 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56977725 56977725 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:56977725G>A uc001cyj.2 - 4 1301 c.733C>T c.(733-735)Cgc>Tgc p.R245C NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 245 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TCTGATACGCGAGACAGTCCC 0.572000 44 11 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179605524 179605524 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:179605524C>T uc003fki.1 - 3 377 c.247G>A c.(247-249)Gat>Aat p.D83N PEX5L_uc011bqd.1_Missense_Mutation_p.D40N|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Missense_Mutation_p.D40N|PEX5L_uc003fkj.1_Missense_Mutation_p.D48N|PEX5L_uc010hxd.1_Missense_Mutation_p.D81N|PEX5L_uc011bqg.1_Missense_Mutation_p.D59N|PEX5L_uc011bqh.1_Missense_Mutation_p.D24N NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA. 83 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AGAAAGTCATCGATGGAGGGA 0.443000 111 31 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95400352 95400352 + Missense_Mutation SNP G A A rs34857351 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:95400352G>A uc004asl.1 - 8 1124 c.847C>T c.(847-849)Ccg>Tcg p.P283S IPPK_uc004ask.1_5'Flank NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA. 283 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity p.P283A(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 CCGAGCCCCGGACTCAGGGTG 0.682000 15 7 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057054 53057054 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:53057054C>T uc010epq.1 + 4 1062 c.885C>T c.(883-885)tcC>tcT p.S295S ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GTGGAAAGTCCTTCAGTTACA 0.408000 72 23 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33585423 33585423 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:33585423G>A uc002xbi.2 + 31 4170 c.3853G>A c.(3853-3855)Gag>Aag p.E1285K NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1243 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGCCAACGTGGAGACTCTGAC 0.622000 29 20 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123340686 123340686 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:123340686C>T uc001udj.1 + 13 1347 c.1288C>T c.(1288-1290)Cag>Tag p.Q430* HIP1R_uc001udg.1_Nonsense_Mutation_p.Q418*|HIP1R_uc001udi.1_Nonsense_Mutation_p.Q430*|HIP1R_uc001udk.1_5'UTR NM_003959 NP_003950 O75146 HIP1R_HUMAN Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA. 430 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CGAGCGGAGCCAGGGCCTGCG 0.692000 12 6 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54630558 54630558 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:54630558G>A uc021smr.1 + 15 4579 c.4579_splice c.e15-1 p.V1527_splice UNC13C_uc021sms.1_Splice_Site_p.V1529_splice|UNC13C_uc002acl.3_Splice_Site_p.V359_splice NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1529 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCTTTGTCAGGTTCTGGAGC 0.383000 64 16 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374607 39374607 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:39374607C>T uc010hhr.2 + 1 923 c.785C>T c.(784-786)tCc>tTc p.S262F CCR8_uc003cjm.2_Missense_Mutation_p.S179F|CCR8_uc021wwe.1_Missense_Mutation_p.S262F NM_005201 NP_005192 P51685 CCR8_HUMAN Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA. 262 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity p.S262F(2) NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TTCCTCACTTCCTTGCACAGT 0.453000 35 13 0 0 1 0 0 CYTH4 27128 broad.mit.edu 37 22 37707513 37707513 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:37707513G>A uc003arf.3 + 10 1018 c.902G>A c.(901-903)gGa>gAa p.G301E CYTH4_uc011amw.2_Missense_Mutation_p.G244E NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 301 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 GAGCCACGGGGAATTATACCT 0.587000 34 8 0 0 1 0 0 IL28A 282616 broad.mit.edu 37 19 39760141 39760141 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:39760141C>T uc002oku.1 + 3 336 c.284C>T c.(283-285)cCc>cTc p.P95L NM_172138 NP_742150 Q8IZJ0 IL28A_HUMAN Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA. 95 response to virus extracellular space cytokine activity cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGGGAGCGCCCCATGGCTTTG 0.622000 8 7 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167163512 167163512 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:167163512G>A uc010fpl.3 - 2 672 c.331C>T c.(331-333)Cct>Tct p.P111S SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 111 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GGACTGAAAGGAGAAAGCATA 0.333000 5 13 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33577572 33577572 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:33577572G>A uc002xbi.2 + 19 2060 c.1743G>A c.(1741-1743)gaG>gaA p.E581E MIR499A_uc021wcg.1_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 539 Myosin head-like. membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TCCTGGAGGAGGAATGCATGT 0.592000 49 10 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39661325 39661325 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39661325C>T uc002hwu.1 - 0 541 c.478G>A c.(478-480)Gaa>Aaa p.E160K KRT13_uc002hwv.1_Missense_Mutation_p.E160K|KRT13_uc010wfr.2_Missense_Mutation_p.E53K|KRT13_uc010cxo.3_Missense_Mutation_p.E160K|KRT13_uc021txk.1_Missense_Mutation_p.E53K NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 160 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CGGAGCTCTTCAATGGTCTTG 0.597000 40 8 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1269605 1269605 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:1269605G>A uc003boz.3 + 3 553 c.286G>A c.(286-288)Ggc>Agc p.G96S CNTN6_uc010hbo.2_Missense_Mutation_p.G91S|CNTN6_uc011asj.2_Missense_Mutation_p.G24S|CNTN6_uc003bpa.3_Missense_Mutation_p.G96S NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 96 Ig-like C2-type 1. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCAAGATATTGGCATGTACCA 0.438000 67 20 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117024753 117024753 + Splice_Site SNP G A A rs114220247 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:117024753G>A uc001lcg.3 + 11 2158 c.1772_splice c.e11+1 p.G591_splice NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN Homo sapiens attractin-like 1 (ATRNL1), mRNA. 591 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGTCATTAACGGGTAAAAGAA 0.323000 61 15 0 0 1 0 0 RLBP1 6017 broad.mit.edu 37 15 89753625 89753625 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:89753625T>A uc002bnl.3 - 8 1225 c.845A>T c.(844-846)gAg>gTg p.E282V NM_000326 NP_000317 P12271 RLBP1_HUMAN Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA. 282 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity p.D281N(2) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CAGGATGTTCTCATCGATCTC 0.577000 106 7 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111785626 111785626 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:111785626G>A uc001tsa.2 + 21 4112 c.3958G>A c.(3958-3960)Gag>Aag p.E1320K NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 1320 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GGACTCAGGGGAGCTGGACAA 0.627000 59 21 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488514 108488514 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:108488514G>A uc010ywk.2 + 19 4136 c.4054G>A c.(4054-4056)Gaa>Aaa p.E1352K RGPD4_uc002tdu.3_Missense_Mutation_p.E539K|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1352 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CAGTGGTGAGGAAAATGAAAA 0.368000 58 116 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740029 39740029 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39740029C>T uc002hxf.2 - 3 971 c.910G>A c.(910-912)Gaa>Aaa p.E304K JUP_uc010wfs.2_Intron NM_000526 NP_000517 P02533 K1C14_HUMAN Homo sapiens keratin 14 (KRT14), mRNA. 304 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) AAGAACCATTCCTCGGCATCC 0.547000 128 80 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73100387 73100387 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:73100387C>T uc003pga.3 + 29 4531 c.4454C>T c.(4453-4455)cCg>cTg p.P1485L RIMS1_uc011dyb.2_Missense_Mutation_p.P882L|RIMS1_uc003pgc.3_Missense_Mutation_p.P934L|RIMS1_uc010kaq.3_Missense_Mutation_p.P805L|RIMS1_uc011dyc.2_Missense_Mutation_p.P610L|RIMS1_uc010kar.3_Missense_Mutation_p.P553L|RIMS1_uc011dyd.2_Missense_Mutation_p.P619L|RIMS1_uc003pge.3_Missense_Mutation_p.P525L|RIMS1_uc003pgf.3_Missense_Mutation_p.P485L|RIMS1_uc003pgi.3_Missense_Mutation_p.P301L|RIMS1_uc003pgg.3_Missense_Mutation_p.P381L|RIMS1_uc003pgh.3_Missense_Mutation_p.P352L|RIMS1_uc003pgd.3_Missense_Mutation_p.P551L|RIMS1_uc011dye.2_Missense_Mutation_p.P291L|RIMS1_uc011dyf.2_Missense_Mutation_p.P109L|RIMS1_uc011dyg.2_Missense_Mutation_p.P12L NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 1485 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GTAAGGCAGCCGAGCCGAGAG 0.498000 13 10 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8082418 8082418 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:8082418G>A uc003gko.3 - 4 709 c.566C>T c.(565-567)gCc>gTc p.A189V ABLIM2_uc003gkm.4_Missense_Mutation_p.A189V|ABLIM2_uc003gkp.3_Missense_Mutation_p.A189V|ABLIM2_uc003gkq.3_Missense_Mutation_p.A189V|ABLIM2_uc003gkr.3_Missense_Mutation_p.A189V|ABLIM2_uc003gkj.4_Missense_Mutation_p.A189V|ABLIM2_uc003gks.3_Missense_Mutation_p.A189V|ABLIM2_uc011bwl.1_Missense_Mutation_p.A194V NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 189 LIM zinc-binding 3. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GATGTACTCGGCATTCAGGAG 0.582000 8 4 0 0 1 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097936 43097936 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:43097936C>T uc002oud.2 - 1 283 c.181G>A c.(181-183)Gac>Aac p.D61N AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 61 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CCACGAGGGTCCTGGGGCAGA 0.517000 71 36 0 0 1 0 0 WBP4 11193 broad.mit.edu 37 13 41650183 41650183 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:41650183C>T uc001uxt.3 + 7 679 c.566C>T c.(565-567)tCc>tTc p.S189F WBP4_uc010tfd.2_Missense_Mutation_p.S168F NM_007187 NP_009118 O75554 WBP4_HUMAN Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA. 189 WW 2. nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1) 12 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) TGAGCAGAATCCAGATGGGAG 0.318000 25 13 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67680207 67680207 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:67680207G>A uc009xpn.1 - 17 2692 c.2569C>T c.(2569-2571)Ccc>Tcc p.P857S CTNNA3_uc001jmw.2_Missense_Mutation_p.P857S NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 857 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.P857fs*4(3) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TTAATCAAGGGTTTTTTTGCA 0.468000 76 19 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86313446 86313446 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:86313446C>T uc001dlj.3 - 38 3439 c.3364G>A c.(3364-3366)Gga>Aga p.G1122R COL24A1_uc001dli.3_Missense_Mutation_p.G258R|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.G422R|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 1122 Collagen-like 11. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCTATTTGTCCTTTATCACCC 0.403000 38 18 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241899 34241899 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:34241899A>T uc021wcr.1 - 0 1346 c.1346T>A c.(1345-1347)tTt>tAt p.F449Y CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.F449Y|RBM12_uc002xds.3_Missense_Mutation_p.F449Y|RBM12_uc002xdr.3_Missense_Mutation_p.F449Y|RBM12_uc021wcq.1_Missense_Mutation_p.F449Y NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 449 RRM 2. nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTTTTTAAAAAAATCAATGAC 0.388000 OREG0004044 type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 72 17 0 0 1 0 0 LYPD3 27076 broad.mit.edu 37 19 43965657 43965657 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:43965657A>C uc002owl.1 - 4 995 c.887T>G c.(886-888)tTg>tGg p.L296W LYPD3_uc002owm.3_3'UTR NM_014400 NP_055215 O95274 LYPD3_HUMAN Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. 296 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) GCCTCCAGTCAACCTGGGCTC 0.627000 34 15 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50888521 50888521 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:50888521G>A uc001zyt.4 - 22 3503 c.3221C>T c.(3220-3222)cCa>cTa p.P1074L TRPM7_uc010bew.2_Missense_Mutation_p.P1074L NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 1074 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTGAAGAAATGGAGTCAACCA 0.313000 10 24 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70733538 70733538 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:70733538G>A uc003pfc.1 + 11 1163 c.1046G>A c.(1045-1047)gGa>gAa p.G349E COL19A1_uc010kam.2_Missense_Mutation_p.G245E NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 349 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.K348N(1)|p.G349R(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGAGAAAAAGGAGATCCAGCT 0.328000 11 5 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10785918 10785918 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:10785918C>A uc001mja.3 + 10 1497 c.1348C>A c.(1348-1350)Cct>Act p.P450T NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 450 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GGCCGATGTTCCTCCAGAGAT 0.433000 49 40 8.20599e-20 8.36399e-20 1 1 0 CWH43 80157 broad.mit.edu 37 4 49032923 49032923 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:49032923A>T uc003gyv.3 + 10 1636 c.1454A>T c.(1453-1455)gAa>gTa p.E485V CWH43_uc011bzl.2_Missense_Mutation_p.E458V NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 485 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 TGGCTAGGGGAAAAGTTGGGT 0.418000 75 21 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395794 154395794 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:154395794C>T uc010jih.1 + 0 2535 c.2375C>T c.(2374-2376)cCt>cTt p.P792L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN Homo sapiens kinesin family member 4B (KIF4B), mRNA. 792 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAGAATCCACCTCCTAAACTC 0.438000 13 11 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335922 57335922 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:57335922G>A uc002qnu.2 - 0 453 c.102C>T c.(100-102)atC>atT p.I34I PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I34I|PEG3_uc002qnv.2_Silent_p.I34I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.I34I NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 34 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTCTCCTATGATGACATCCG 0.483000 18 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179408788 179408788 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179408788G>A uc021vsy.1 - 294 88604 c.88379C>T c.(88378-88380)gCt>gTt p.A29460V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A23155V|TTN_uc021vta.1_Missense_Mutation_p.A23088V|TTN_uc021vtb.1_Missense_Mutation_p.A22963V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30387 Fibronectin type-III 114. 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) GGAGGCCCCAGCCCTGATGGT 0.458000 63 13 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10433037 10433037 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10433037C>T uc010coi.3 - 23 3089 c.2961G>A c.(2959-2961)gaG>gaA p.E987E AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E987E|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. 987 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 GACCTGCCATCTCTTCTGTGA 0.493000 90 35 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16215966 16215966 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:16215966C>T uc010bvi.3 + 23 3700 c.3525C>T c.(3523-3525)atC>atT p.I1175I ABCC1_uc010bvj.3_Silent_p.I1116I|ABCC1_uc010bvk.3_Silent_p.I1119I|ABCC1_uc010bvl.3_Silent_p.I1175I|ABCC1_uc010bvm.3_Silent_p.I1060I|ABCC1_uc002del.4_Silent_p.I1069I|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Silent_p.I141I NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 1175 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGCGCTTCATCCACCAGAGTG 0.617000 34 7 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72638969 72638969 + Missense_Mutation SNP G A A rs151251788 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:72638969G>A uc002aun.4 - 10 1436 c.1229C>T c.(1228-1230)gCc>gTc p.A410V BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.A421V|HEXA_uc010bix.3_Missense_Mutation_p.A410V|HEXA_uc010biy.2_Missense_Mutation_p.A273V|HEXA_uc010uko.1_Missense_Mutation_p.A236V NM_000520 NP_000511 P06865 HEXA_HUMAN Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA. 410 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 CCGGAAGCCGGCCTTGGTGAC 0.498000 356 153 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26707403 26707403 + Nonsense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:26707403T>A uc002rhk.3 - 11 1271 c.1144A>T c.(1144-1146)Aaa>Taa p.K382* NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 382 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGTCCCCTTTGCCCACCACG 0.597000 13 6 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129381003 129381003 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:129381003G>A uc021zfb.1 + 2 463 c.358G>A c.(358-360)Gaa>Aaa p.E120K LAMA2_uc003qbn.3_Missense_Mutation_p.E120K|LAMA2_uc003qbo.3_Missense_Mutation_p.E120K NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 120 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAATGGAATCGAATACCATTA 0.358000 9 10 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52839834 52839834 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52839834G>A uc003dfv.2 + 15 1920 c.1884G>A c.(1882-1884)gtG>gtA p.V628V ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA. 628 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.G628C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCACACCGGTGAGCCCCGCCA 0.642000 66 25 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530082 140530082 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140530082G>T uc003lir.3 + 0 244 c.244G>T c.(244-246)Gat>Tat p.D82Y NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 82 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGACCCATGATTTACTGCT 0.527000 75 19 1.56452e-12 1.58602e-12 1 1 0 TRBV25-1 28562 broad.mit.edu 37 7 142378838 142378838 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142378838A>C uc003waa.1 + 1 106 c.106A>C c.(106-108)Aag>Cag p.K36Q TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron SubName: Full=V_segment translation product; Flags: Fragment; AGGCACAGGAAAGAAGATCAC 0.438000 94 63 0 0 1 0 0 FAM22F 54754 broad.mit.edu 37 9 97082649 97082649 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:97082649C>T uc004aup.1 - 4 1230 c.1209G>A c.(1207-1209)gaG>gaA p.E403E NM_017561 NP_060031 A1L443 FA22F_HUMAN Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA. 403 central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1) 19 Acute lymphoblastic leukemia(62;0.136) CCAGCAGCTCCTCCATGATGT 0.637000 79 15 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107568553 107568553 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:107568553G>A uc004bcl.3 - 30 4837 c.4433C>T c.(4432-4434)cCc>cTc p.P1478L NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 1478 Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGCCCCTGGGGGACACACAGG 0.572000 60 21 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130784612 130784612 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:130784612G>A uc001qgk.4 - 0 1771 c.1223C>T c.(1222-1224)tCc>tTc p.S408F SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_5'UTR|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.S408F|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN Homo sapiens sorting nexin 19 (SNX19), mRNA. 408 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CAGAGCCTGGGAACTCTCTAG 0.562000 7 6 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64677198 64677198 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:64677198G>A uc001obx.3 - 13 2177 c.2062C>T c.(2062-2064)Ccc>Tcc p.P688S NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 688 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGACTGGGGGACCAGGCCCA 0.667000 52 12 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189945763 189945763 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:189945763G>A uc002uqk.3 - 12 1134 c.859C>T c.(859-861)Cgt>Tgt p.R287C COL5A2_uc010frx.3_Missense_Mutation_p.R40C NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 287 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGAAATCCACGAGCTCCCTGG 0.408000 17 24 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50946841 50946841 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:50946841G>A uc002psf.2 + 9 1044 c.993G>A c.(991-993)aaG>aaA p.K331K NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 331 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TAGCTGTCAAGGATGAGAAGT 0.502000 8 7 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86375655 86375655 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:86375655G>A uc001dlj.3 - 25 2723 c.2648C>T c.(2647-2649)cCg>cTg p.P883L COL24A1_uc001dli.3_Missense_Mutation_p.P19L|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P183L|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 883 Collagen-like 6. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TTCTCCCTGCGGACCTAGTGG 0.403000 126 55 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890790 23890790 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:23890790C>T uc001ywj.4 - 0 2204 c.2100G>A c.(2098-2100)ccG>ccA p.P700P NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CCGCTGCTACCGGGGGTCCGG 0.632000 11 3 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10756377 10756377 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:10756377G>A uc003wtk.1 - 2 1038 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 337 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GCTTGTGATAGGAGGCTAGCA 0.562000 75 19 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10307866 10307866 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10307866G>A uc002gmm.2 - 21 2564 c.2469C>T c.(2467-2469)gcC>gcT p.A823A AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 823 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGTTCATGAAGGCACGGACAT 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 20 13 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130368455 130368455 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:130368455C>T uc003vqi.3 - 2 536 c.79G>A c.(79-81)Gga>Aga p.G27R TSGA13_uc003vqj.3_Missense_Mutation_p.G27R NM_052933 NP_443165 Q96PP4 TSG13_HUMAN Homo sapiens testis specific, 13 (TSGA13), mRNA. 27 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) ACAACCATTCCTTTCTCACGT 0.388000 46 21 0 0 1 0 0 WBSCR28 135886 broad.mit.edu 37 7 73280029 73280029 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:73280029C>T uc003tzk.2 + 2 660 c.624C>T c.(622-624)acC>acT p.T208T WBSCR28_uc003tzl.2_Silent_p.T107T NM_182504 NP_872310 Q6UE05 WBS28_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA. 208 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) CCTGGACCACCTGCCTGGCCT 0.612000 238 103 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111540581 111540581 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:111540581G>A uc003vfy.3 - 14 1598 c.1329C>T c.(1327-1329)tcC>tcT p.S443S DOCK4_uc003vfx.3_Silent_p.S443S|DOCK4_uc003vga.1_Silent_p.S48S NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 443 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CAGAGCCGAAGGAGATAAAAT 0.463000 10 6 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551877 58551877 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:58551877G>A uc002qrc.1 + 3 677 c.430G>A c.(430-432)Ggg>Agg p.G144R NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 144 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D143N(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGAGGAAGATGGGAAGAGTCC 0.627000 65 33 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8420788 8420788 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:8420788G>A uc001ape.3 - 18 3589 c.2779C>T c.(2779-2781)Cac>Tac p.H927Y RERE_uc001apf.3_Missense_Mutation_p.H927Y|RERE_uc010nzx.1_Missense_Mutation_p.H659Y|RERE_uc001apd.3_Missense_Mutation_p.H373Y NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 927 Pro-rich. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGCTTGATGTGGGGCATGGCC 0.692000 31 12 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483048 12483048 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:12483048G>A uc001rai.1 - 3 1467 c.1209C>T c.(1207-1209)ctC>ctT p.L403L MANSC1_uc010shm.1_Silent_p.L337L|MANSC1_uc001raj.1_Silent_p.L369L NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN Homo sapiens MANSC domain containing 1 (MANSC1), mRNA. 403 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) TTCTACCCAGGAGGACGAGGC 0.483000 21 8 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170290 113170290 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:113170290G>A uc010mtz.3 - 37 7927 c.7590C>T c.(7588-7590)ctC>ctT p.L2530L SVEP1_uc010mty.3_Silent_p.L456L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2530 Sushi 19. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGGGACCTTCGAGCCGAAAGC 0.493000 24 6 0 0 1 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76170311 76170311 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:76170311C>T uc002bbg.2 + 6 1069 c.683C>T c.(682-684)tCa>tTa p.S228L UBE2Q2_uc002bbh.2_Missense_Mutation_p.S193L|UBE2Q2_uc010umn.1_Missense_Mutation_p.S212L|UBE2Q2_uc002bbi.2_Missense_Mutation_p.S109L NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA. 228 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 GGGATTTATTCAGTGGAACTC 0.338000 26 31 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430106 135430106 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:135430106C>T uc004ezu.1 + 5 4532 c.4241C>T c.(4240-4242)tCa>tTa p.S1414L GPR112_uc010nsb.1_Missense_Mutation_p.S1209L|GPR112_uc010nsc.1_Missense_Mutation_p.S1181L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1414 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CAGGATACTTCATTTGTAGAT 0.428000 42 34 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111368641 111368641 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:111368641C>T uc003vfy.3 - 53 5994 c.5725G>A c.(5725-5727)Ggc>Agc p.G1909S DOCK4_uc011kml.2_Missense_Mutation_p.G745S|DOCK4_uc011kmm.2_Missense_Mutation_p.G733S|DOCK4_uc003vfw.3_Missense_Mutation_p.G1276S|DOCK4_uc003vfx.3_Missense_Mutation_p.G1864S|DOCK4_uc003vfv.3_Missense_Mutation_p.G177S NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 1864 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TTTTCAAAGCCTGAGGTTTCC 0.622000 92 16 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110302413 110302413 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:110302413C>T uc001dyr.2 - 3 367 c.142G>A c.(142-144)Gag>Aag p.E48K EPS8L3_uc001dys.2_Missense_Mutation_p.E48K|EPS8L3_uc001dyq.2_Missense_Mutation_p.E48K|EPS8L3_uc009wfm.2_Missense_Mutation_p.E14K|EPS8L3_uc009wfn.2_Missense_Mutation_p.E14K|EPS8L3_uc009wfo.2_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 48 cytoplasm protein binding p.E48*(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AAGGCATCCTCGGGCCCCTGG 0.612000 39 5 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825609 196825610 + Missense_Mutation DNP GT AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:196825609_196825610GT>AA uc002utj.4 - 17 2366_2367 c.2265_2266AC>TT c.(2263-2268)caacgt>caTTgt p.755_756QR>HC NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 755 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTTTTTTACGTTGAGGATATA 0.366000 14 37 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78936356 78936357 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:78936356_78936357CC>TT uc002jyt.1 + 31 4593_4594 c.3788_3789CC>TT c.(3787-3789)ccc>cTT p.P1263L RPTOR_uc010wug.1_Missense_Mutation_p.P1105L|RPTOR_uc002jyu.1_Missense_Mutation_p.P156L NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 1263 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GACATCCACCCCCAGGCGGACC 0.634000 62 32 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56140668 56140668 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:56140668C>T uc002xyn.4 + 9 1840 c.1677C>T c.(1675-1677)ccC>ccT p.P559P PCK1_uc010zzm.2_Silent_p.P242P NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 559 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCTACATCCCCAAGGAGGATG 0.547000 10 20 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8784255 8784255 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:8784255C>T uc002knr.2 + 5 1287 c.1145C>T c.(1144-1146)cCc>cTc p.P382L SOGA2_uc002knq.2_Missense_Mutation_p.P382L|SOGA2_uc010dkw.1_Missense_Mutation_p.P220L NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 733 GCCCCCAGTCCCCGGGACAGC 0.682000 21 8 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505164 159505164 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:159505164G>A uc010piw.2 - 0 634 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) ATAAATATCAGGCCTATGGGC 0.418000 55 12 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41019020 41019020 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:41019020C>T uc003jmj.4 - 24 3032 c.2542G>A c.(2542-2544)Gaa>Aaa p.E848K HEATR7B2_uc003jmi.4_Missense_Mutation_p.E403K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 848 binding 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 GTCTGGCCTTCACTTTTCAGA 0.493000 11 16 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120528233 120528233 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:120528233G>A uc003idh.3 - 1 527 c.372C>T c.(370-372)ttC>ttT p.F124F PDE5A_uc003idf.3_Silent_p.F82F|PDE5A_uc003idg.3_Silent_p.F72F NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 124 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AGTCAGAGAGGAAGCTCACAG 0.488000 20 22 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53165724 53165724 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:53165724C>T uc001sax.3 - 5 1248 c.1194G>A c.(1192-1194)aaG>aaA p.K398K NM_015848 NP_056932 Q01546 K22O_HUMAN Homo sapiens keratin 76 (KRT76), mRNA. 398 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGATCTCACTCTTGGTGTTCC 0.522000 66 21 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38121310 38121310 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:38121310G>A uc001izd.1 - 5 1472 c.973C>T c.(973-975)Cgt>Tgt p.R325C ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R325C NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN Homo sapiens zinc finger protein 248 (ZNF248), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TTATATTCACGGAGAATCTTT 0.358000 73 13 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44013205 44013205 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:44013205C>T uc002lcb.1 + 1 165 c.114C>T c.(112-114)ttC>ttT p.F38F RNF165_uc002lby.1_5'UTR|RNF165_uc010dnn.1_Intron NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN Homo sapiens ring finger protein 165 (RNF165), mRNA. 38 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCCGCCACTTCCACCTGGGCC 0.692000 12 6 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747291 158747291 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158747291G>C uc010pir.2 - 0 135 c.135C>G c.(133-135)atC>atG p.I45M NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TGACTGAGAAGATGAGCATGT 0.488000 77 49 0 0 1 0 0 BRDT 676 broad.mit.edu 37 1 92445161 92445161 + Silent SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:92445161T>A uc001dol.4 + 8 1552 c.1134T>A c.(1132-1134)atT>atA p.I378I BRDT_uc010osz.2_Silent_p.I382I|BRDT_uc001dok.4_Silent_p.I378I|BRDT_uc009wdf.3_Silent_p.I305I|BRDT_uc010otb.2_Silent_p.I332I|BRDT_uc010ota.2_Silent_p.I332I|BRDT_uc001dom.4_Silent_p.I378I NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.P377Q(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) AGATCCCGATTGAACCTGTTG 0.353000 39 15 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166908299 166908299 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:166908299C>T uc002udo.4 - 7 1121 c.894G>A c.(892-894)gtG>gtA p.V298V SCN1A_uc010fpk.3_Silent_p.V298V|SCN1A_uc021vsb.1_Silent_p.V298V NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 298 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CATTATAATTCACAGTTATAT 0.348000 11 6 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82409249 82409249 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:82409249G>A uc001dit.4 + 5 1175 c.994G>A c.(994-996)Gaa>Aaa p.E332K LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.E332K|LPHN2_uc001div.3_Missense_Mutation_p.E332K|LPHN2_uc009wcd.3_Missense_Mutation_p.E332K NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 332 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCAAGACAATGAAAGTGAAAC 0.398000 75 19 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431764 140431764 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140431764G>A uc003lik.1 + 0 786 c.709G>A c.(709-711)Gac>Aac p.D237N NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 237 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D237N(2)|p.N236N(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGATGTCAACGACCACGTGCC 0.597000 18 7 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88365992 88365992 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:88365992C>T uc003ydy.2 + 9 1329 c.1281C>T c.(1279-1281)atC>atT p.I427I NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 427 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AGATGGCAATCATTGAAGATA 0.318000 19 9 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129148218 129148218 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:129148218C>T uc022cdu.1 + 2 1514 c.1470C>T c.(1468-1470)ctC>ctT p.L490L BCORL1_uc010nrd.1_Silent_p.L392L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 490 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 ACAGGTGTCTCCCAGGCGTGC 0.602000 88 56 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27028622 27028623 + Missense_Mutation DNP CC TA TA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:27028622_27028623CC>TA uc010crt.3 + 37 5352_5353 c.5160_5161CC>TA c.(5158-5163)ctcctg>ctTAtg p.L1721M SUPT6H_uc002hby.3_Missense_Mutation_p.L1721M NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1721 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CCACCCCACTCCTGGACGAGAT 0.653000 38 10 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113655185 113655185 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:113655185G>A uc003eaq.4 + 13 1605 c.1529G>A c.(1528-1530)cGa>cAa p.R510Q GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.R343Q|GRAMD1C_uc003eas.3_Missense_Mutation_p.R305Q|GRAMD1C_uc003eat.3_Missense_Mutation_p.R169Q NM_017577 NP_001165576 Q8IYS0 GRM1C_HUMAN Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA. 510 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 ACTGGCCTACGAAGGAGAAGG 0.393000 52 16 0 0 1 0 0 TLE2 7089 broad.mit.edu 37 19 3002450 3002450 + Nonsense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:3002450C>A uc010dth.3 - 17 2214 c.1951G>T c.(1951-1953)Gag>Tag p.E651* TLE2_uc010xhb.2_Nonsense_Mutation_p.E317*|TLE2_uc002lww.3_Nonsense_Mutation_p.E650*|TLE2_uc010xhc.2_Nonsense_Mutation_p.E528*|TLE2_uc010dti.3_Nonsense_Mutation_p.E664* NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 650 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) TTGCTACTCTCCATTCCGACC 0.592000 7 4 1 1 1 1 0 DSPP 1834 broad.mit.edu 37 4 88534073 88534073 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:88534073T>G uc003hqu.3 + 3 855 c.735T>G c.(733-735)agT>agG p.S245R NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 245 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CCGATGGGAGTCCTAGTGGGA 0.468000 15 6 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49939861 49939861 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49939861G>A uc003cxy.4 - 0 1446 c.1182C>T c.(1180-1182)ctC>ctT p.L394L MST1R_uc011bdc.2_Silent_p.L394L|MST1R_uc011bdd.2_Silent_p.L394L|MST1R_uc011bde.1_Silent_p.L394L|MST1R_uc011bdf.1_Silent_p.L394L|MST1R_uc011bdg.2_Silent_p.L394L NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 394 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GGCCTCGCCGGAGGCCTGGAT 0.577000 85 24 0 0 1 0 0 SPDYE7P 441251 broad.mit.edu 37 7 72338179 72338179 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:72338179G>A uc010lal.1 - 0 c.1477C>T Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA. CTGTGGGTTTGGAAGCTGCGC 0.498000 75 39 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95372905 95372905 + Silent SNP G A A rs143390578 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:95372905G>A uc001kiu.4 + 0 561 c.423G>A c.(421-423)ggG>ggA p.G141G NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 141 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TGGACATTGGGATAGTGGGTT 0.527000 39 13 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965751 88965751 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:88965751C>T uc011khi.2 + 3 3993 c.3455C>T c.(3454-3456)cCt>cTt p.P1152L NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 1152 intracellular zinc ion binding p.P1152S(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ACATTTTCTCCTGACGAAATA 0.418000 HNSCC(36;0.09) 46 31 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14951475 14951475 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:14951475C>T uc002dcv.3 + 10 1249 c.1183C>T c.(1183-1185)Ccg>Tcg p.P395S NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 395 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CAAAATTGCACCGAACACACC 0.478000 43 58 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830279 13830279 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13830279G>A uc003jfd.2 - 36 6147 c.6105C>T c.(6103-6105)aaC>aaT p.N2035N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2035 AAA 1 (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) GATCAATACGGTTAAATTCAT 0.358000 Kartagener syndrome 32 12 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20803457 20803457 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:20803457G>A uc001reh.2 + 13 2888 c.2848G>A c.(2848-2850)Gat>Aat p.D950N PDE3A_uc021qwa.1_Missense_Mutation_p.D628N NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 950 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AAAGTTGGCTGATATCAATGG 0.338000 28 23 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134494444 134494444 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:134494444C>T uc004eys.3 + 4 1165 c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W ZNF449_uc004eyt.3_Missense_Mutation_p.R214W|ZNF449_uc004eyu.3_Missense_Mutation_p.R140W NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN Homo sapiens zinc finger protein 449 (ZNF449), mRNA. 334 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ATGTTTTGCTCGGAAGTCACA 0.448000 33 27 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120266046 120266046 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:120266046T>C uc001ehz.3 + 2 565 c.338T>C c.(337-339)aTg>aCg p.M113T PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR|PHGDH_uc001eib.3_Missense_Mutation_p.M79T NM_006623 NP_006614 O43175 SERA_HUMAN Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA. 113 L-serine biosynthetic process|brain development NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) ACTTGTGGAATGATCATGTGC 0.493000 40 13 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22476278 22476278 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:22476278C>T uc001wcu.4 + 1 312 c.214C>T c.(214-216)Cgt>Tgt p.R72C TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc021rpn.1_Missense_Mutation_p.R72C|TCRA_uc010tmm.2_Intron|TCRA_uc001wct.4_3'UTR RecName: Full=T-cell receptor alpha chain V region HPB-MLT; Flags: Precursor; Fragment; TTTCCTTATTCGTCGGAACTC 0.423000 5 6 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43547193 43547193 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:43547193C>T uc002zag.1 + 17 3755 c.3755C>T c.(3754-3756)cCc>cTc p.P1252L UMODL1_uc002zad.1_Missense_Mutation_p.P1052L|UMODL1_uc002zae.1_Missense_Mutation_p.P1180L|UMODL1_uc002zaf.1_Missense_Mutation_p.P1124L|UMODL1_uc002zal.1_Missense_Mutation_p.P74L|UMODL1_uc010gpa.1_5'Flank NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 1124 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGAGACTCTCCCATACCTCAG 0.522000 47 9 0 0 1 0 0 VN1R10P 387316 broad.mit.edu 37 6 27293314 27293314 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:27293314C>T uc010jqt.3 + 0 775 c.253C>T c.(253-255)Cct>Tct p.P85S NM_032030 NP_114419 SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b; ACAATCTTTTCCTGAAACAGA 0.393000 176 26 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38851140 38851140 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:38851140C>T uc002oih.4 + 14 1707 c.1620C>T c.(1618-1620)ctC>ctT p.L540L CATSPERG_uc002oig.4_Silent_p.L500L|CATSPERG_uc002oif.4_Silent_p.L180L|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 540 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 TCTGGTACCTCCTGGAGGGCA 0.587000 30 24 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629785 47629785 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:47629785C>T uc001rpq.3 + 1 1464 c.939C>T c.(937-939)ctC>ctT p.L313L FAM113B_uc001rpn.3_Silent_p.L313L|FAM113B_uc021qxi.1_Silent_p.L313L NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 313 Pro-rich. hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) tgccgctgctcccgctcctgt 0.627000 65 25 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142880922 142880922 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142880922G>A uc011ksw.2 + 0 411 c.411G>A c.(409-411)gtG>gtA p.V137V NM_176881 NP_795362 P59534 T2R39_HUMAN Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA. 137 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TCTACTTTGTGAAGATTGCCA 0.393000 58 38 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814244 76814244 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:76814244C>T uc010rsk.2 + 0 359 c.359C>T c.(358-360)gCc>gTc p.A120V CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron NM_006189 NP_006180 P47874 OMP_HUMAN Homo sapiens olfactory marker protein (OMP), mRNA. 120 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGGAATGAGGCCGACGCCCTG 0.617000 29 8 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67298951 67298951 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:67298951G>A uc002jif.2 - 6 2245 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.L343F|ABCA5_uc002jih.2_Missense_Mutation_p.L343F|ABCA5_uc010dfe.2_Missense_Mutation_p.L343F NM_018672 NP_758424 Q8WWZ7 ABCA5_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA. 343 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) ATTATCATAAGGCCAATAAAT 0.338000 18 21 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6204741 6204741 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:6204741G>A uc001qnn.1 - 5 792 c.542C>T c.(541-543)aCc>aTc p.T181I VWF_uc010set.1_Missense_Mutation_p.T181I|VWF_uc001qno.1_Missense_Mutation_p.T218I NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 181 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGGTCCGAGGTCAAGGTCCC 0.507000 53 12 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90083966 90083966 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:90083966G>A uc003kju.3 + 67 13828 c.13732G>A c.(13732-13734)Ggg>Agg p.G4578R GPR98_uc003kjt.3_Missense_Mutation_p.G2284R|GPR98_uc003kjw.3_Missense_Mutation_p.G239R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4578 Calx-beta 31. 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 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) CCCAGTGAGCGGGTTGTTCTA 0.428000 24 18 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138563 55138563 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:55138563C>T uc003han.4 + 8 1571 c.1240C>T c.(1240-1242)Cct>Tct p.P414S PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.P308S|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 414 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TCTTGCAGTTCCTTCATCCAT 0.488000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 38 10 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137988616 137988616 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:137988616G>A uc002tva.1 + 6 1633 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E435K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.R544*(1) 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) GATTGTAGGAGAAGATGTATC 0.458000 20 10 0 0 1 0 0 HMMR 3161 broad.mit.edu 37 5 162900236 162900236 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:162900236C>T uc003lzh.3 + 7 884 c.702C>T c.(700-702)ctC>ctT p.L234L HMMR_uc003lzf.3_Silent_p.L233L|HMMR_uc003lzg.3_Silent_p.L218L|HMMR_uc011dem.2_Silent_p.L147L NM_001142556 NP_001136028 O75330 HMMR_HUMAN Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA. 233 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) CAGAAAAACTCTTGGAATACA 0.249000 5 8 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679883 100679883 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100679883C>T uc003uxp.1 + 2 5239 c.5186C>T c.(5185-5187)tCa>tTa p.S1729L MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1729 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCCGTTCATCTCCTACA 0.507000 248 137 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112536282 112536282 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:112536282C>T uc002thi.3 - 44 5602 c.5355G>A c.(5353-5355)gaG>gaA p.E1785E NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 1785 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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 anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CAGGCAACATCTCTGGGGTCT 0.393000 42 6 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49074219 49074219 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:49074219T>G uc004dnb.3 - 25 3179 c.3117A>C c.(3115-3117)gaA>gaC p.E1039D CACNA1F_uc010nip.3_Missense_Mutation_p.E1028D NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1039 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CTCACTTGCATTCTTGAGGGG 0.547000 10 37 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63527019 63527019 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:63527019G>A uc002lkb.3 + 9 1996 c.1570G>A c.(1570-1572)Gat>Aat p.D524N CDH7_uc002ljz.3_Missense_Mutation_p.D524N|CDH7_uc002lka.3_Missense_Mutation_p.D524N NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T523T(1) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CTTAACAACGGATGCAACAAA 0.363000 7 16 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44060805 44060805 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:44060805C>T uc002ijr.4 + 5 957 c.635C>T c.(634-636)cCg>cTg p.P212L MAPT_uc010dau.3_Missense_Mutation_p.P212L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Missense_Mutation_p.P60L NM_016835 NP_058519 P10636 TAU_HUMAN Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA. 212 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AAAGAGAGGCCGGGGAGCAAG 0.692000 32 11 0 0 1 0 0 NFE2 4778 broad.mit.edu 37 12 54686197 54686197 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:54686197G>A uc009znk.3 - 1 1593 c.1083C>T c.(1081-1083)ttC>ttT p.F361F NFE2_uc001sfq.3_Silent_p.F361F|NFE2_uc001sfr.4_Silent_p.F361F|NFE2_uc009znl.3_Silent_p.F361F NM_006163 NP_006154 Q16621 NFE2_HUMAN Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA. 361 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 GGGGCACAAGGAAGATGGTCC 0.557000 19 46 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120979052 120979052 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:120979052G>A uc003vjw.3 + 3 1008 c.751G>A c.(751-753)Gat>Aat p.D251N WNT16_uc003vjv.3_Missense_Mutation_p.D241N|WNT16_uc010lkl.3_Missense_Mutation_p.D35N NM_057168 NP_476509 Q9UBV4 WNT16_HUMAN Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA. 251 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) TTTGTTGAAGGATAAATATGA 0.413000 26 6 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71797023 71797023 + Missense_Mutation SNP G A A rs151064013 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:71797023G>A uc010fen.3 + 26 3079 c.2938G>A c.(2938-2940)Gga>Aga p.G980R DYSF_uc010fei.3_Missense_Mutation_p.G979R|DYSF_uc010feh.3_Missense_Mutation_p.G948R|DYSF_uc002sig.4_Missense_Mutation_p.G948R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.G993R|DYSF_uc010fee.3_Missense_Mutation_p.G962R|DYSF_uc010fef.3_Missense_Mutation_p.G979R|DYSF_uc002sie.3_Missense_Mutation_p.G962R|DYSF_uc010feo.3_Missense_Mutation_p.G994R|DYSF_uc010fej.3_Missense_Mutation_p.G949R|DYSF_uc010fel.3_Missense_Mutation_p.G949R|DYSF_uc010fem.3_Missense_Mutation_p.G963R|DYSF_uc002sif.3_Missense_Mutation_p.G963R|DYSF_uc010fek.3_Missense_Mutation_p.G980R NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 962 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCGGCTTCCCGGAGGCCAGTG 0.582000 12 7 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58945019 58945019 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:58945019G>A uc002qst.4 - 2 2193 c.1792C>T c.(1792-1794)Cct>Tct p.P598S NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 598 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) CATTTATAAGGCTTTTCTCCA 0.398000 44 22 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391598 139391598 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:139391598G>A uc004chz.3 - 33 6593 c.6593C>T c.(6592-6594)tCg>tTg p.S2198L NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 2198 Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.S2163_T2283del(2)|p.K2182fs*61(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCCACGGGCGAGAGCATGCC 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 79 17 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349303 30349303 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:30349303T>C uc002hgu.3 + 0 1149 c.1138T>C c.(1138-1140)Tct>Cct p.S380P LRRC37B_uc010wbx.2_Missense_Mutation_p.S298P|LRRC37B_uc010csu.3_Missense_Mutation_p.S380P NM_052888 NP_443120 Q96QE4 LR37B_HUMAN Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA. 380 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GGCGGAACCTTCTTCTACAGC 0.537000 84 25 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42744504 42744504 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:42744504G>A uc002iha.3 + 4 1445 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K C17orf104_uc002igy.1_Missense_Mutation_p.E243K|C17orf104_uc002igz.3_Missense_Mutation_p.E243K|C17orf104_uc010wja.1_Non-coding_Transcript NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA. 409 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 GTTTGCAAAGGAAGCAGTATT 0.413000 54 18 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132092468 132092468 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:132092468G>A uc011mvd.1 - 1 579 c.163C>T c.(163-165)Cct>Tct p.P55S HS6ST2_uc011mvb.1_5'Flank|HS6ST2_uc011mvc.1_5'Flank|HS6ST2_uc011mve.1_Missense_Mutation_p.P55S NM_001077188 NP_001070656 Q96MM7 H6ST2_HUMAN Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA. 55 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ACACCCCTAGGAGGGCCCGCG 0.711000 3 13 0 0 1 0 0 CTSA 5476 broad.mit.edu 37 20 44523713 44523713 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:44523713C>T uc002xqh.3 + 10 1457 c.1083C>T c.(1081-1083)aaC>aaT p.N361N CTSA_uc002xqj.4_Silent_p.N343N|CTSA_uc010zxi.2_Silent_p.N344N|CTSA_uc002xqi.3_Non-coding_Transcript NM_000308 NP_001121167 P10619 PPGB_HUMAN Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. 343 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) ACCTCAACAACCCGTACGTGC 0.607000 25 19 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10951412 10951412 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:10951412G>A uc002yip.1 - 9 668 c.300C>T c.(298-300)ttC>ttT p.F100F TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.F82F|TPTE_uc002yir.1_Silent_p.F62F|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 100 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) GTAAGACCAGGAAAACTCCAA 0.333000 73 9 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134049632 134049632 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:134049632C>A uc004cag.3 + 21 3195 c.3084C>A c.(3082-3084)ctC>ctA p.L1028L NUP214_uc004cah.3_Silent_p.L1018L|NUP214_uc004cai.3_Silent_p.L458L|NUP214_uc004caf.1_Silent_p.L1017L|NUP214_uc010mzf.3_Silent_p.L326L NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1028 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGCCCAGTCTCTTGCCCCATG 0.542000 T """DEK, SET, ABL1""" """AML, T-ALL""" 60 17 3.41278e-10 3.45105e-10 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91642806 91642806 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:91642806C>T uc004efk.2 + 4 4062 c.3217C>T c.(3217-3219)Cat>Tat p.H1073Y PCDH11X_uc004efl.2_Missense_Mutation_p.H1063Y|PCDH11X_uc010nmv.2_Intron|PCDH11X_uc004efm.2_Missense_Mutation_p.H1073Y|PCDH11X_uc004efn.2_Missense_Mutation_p.H1063Y|PCDH11X_uc004efo.2_Missense_Mutation_p.H1036Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 1073 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACTGGGAGACCATGATGCAGG 0.542000 16 21 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125562836 125562836 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:125562836G>A uc011lze.2 + 0 435 c.435G>A c.(433-435)ctG>ctA p.L145L NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 GCGCAGCCCTGGTGGGAATGG 0.617000 53 8 0 0 1 0 0 SNF8 11267 broad.mit.edu 37 17 47018295 47018295 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:47018295G>A uc002ioj.3 - 2 293 c.235C>T c.(235-237)Ccg>Tcg p.P79S SNF8_uc002iok.3_Missense_Mutation_p.P79S NM_007241 NP_009172 Q96H20 SNF8_HUMAN Homo sapiens SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) (SNF8), mRNA. 79 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding breast(1)|endometrium(1)|lung(1) 3 CAGGCCAGCGGATCCACGCCA 0.512000 121 20 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480590 10480590 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:10480590C>T uc003wtc.3 - 1 351 c.122G>A c.(121-123)cGa>cAa p.R41Q NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 41 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TGGATCCCCTCGCTTGAGGAA 0.662000 50 10 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76209645 76209645 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:76209645C>T uc002bbk.3 + 4 643 c.538C>T c.(538-540)Cct>Tct p.P180S FBXO22_uc002bbj.2_Missense_Mutation_p.P180S|FBXO22_uc002bbl.3_Missense_Mutation_p.P76S NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA. 180 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TTTATTATTCCCTCAAATTGA 0.333000 30 48 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412267 139412267 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:139412267G>A uc004chz.3 - 7 1378 c.1378C>T c.(1378-1380)Ccg>Tcg p.P460S NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 460 EGF-like 12; calcium-binding (Potential). Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TTCTGGCACGGGTTCGAGACG 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 65 15 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327654 28327654 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:28327654C>T uc010jrc.3 + 2 624 c.291C>T c.(289-291)atC>atT p.I97I ZKSCAN3_uc003nle.4_Silent_p.I97I|ZKSCAN3_uc003nlf.4_Intron NM_001242894 NP_001229823 Q9BRR0 ZKSC3_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA. 97 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 TCCTGACCATCCTGCCGGGGA 0.617000 64 10 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165703553 165703553 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:165703553G>A uc003qum.4 - 6 1160 c.1124C>T c.(1123-1125)tCa>tTa p.S375L C6orf118_uc011egi.1_Non-coding_Transcript NM_144980 NP_659417 Q5T5N4 CF118_HUMAN Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. 375 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TTTCTCAGATGATTCTGGAAA 0.279000 9 5 0 0 1 0 0 NACC1 112939 broad.mit.edu 37 19 13246057 13246057 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:13246057C>T uc002mwm.3 + 1 204 c.36C>T c.(34-36)ttC>ttT p.F12F NM_052876 NP_443108 Q96RE7 NACC1_HUMAN Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA. 12 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 TCCCGAACTTCGGCAACAGCA 0.637000 27 13 0 0 1 0 0 HSFY1P1 27437 broad.mit.edu 37 22 17308477 17308477 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:17308477C>T uc010gqr.1 + 0 c.114C>T Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA. AGATGTTTCTCCTAAAGATGA 0.408000 4 9 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4703923 4703923 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:4703923G>T uc003bqc.3 + 13 1714 c.1364G>T c.(1363-1365)aGg>aTg p.R455M ITPR1_uc021wsi.1_Missense_Mutation_p.R470M|ITPR1_uc021wsj.1_Missense_Mutation_p.R455M|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 470 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CAGAATGAAAGGAGGTGAGCA 0.567000 10 10 7.48243e-07 7.53503e-07 1 1 0 HGD 3081 broad.mit.edu 37 3 120394643 120394643 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:120394643C>T uc003edw.3 - 1 543 c.83G>A c.(82-84)gGa>gAa p.G28E NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 28 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) TCATACCTGTCCTTCTGGCAG 0.483000 47 15 0 0 1 0 0 HSD17B12 51144 broad.mit.edu 37 11 43861598 43861598 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:43861598A>G uc001mxq.4 + 8 903 c.668A>G c.(667-669)aAg>aGg p.K223R NM_016142 NP_057226 Q53GQ0 DHB12_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA. 223 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 TATAGGAGCAAGGGCGTCTTT 0.443000 33 20 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69693229 69693229 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:69693229C>T uc003hee.3 + 4 1295 c.1270C>T c.(1270-1272)Ctg>Ttg p.L424L UGT2B10_uc011cam.2_Silent_p.L340L NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 424 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GAGTACAGACCTGCTGAATGC 0.393000 123 55 0 0 1 0 0 CLRN3 119467 broad.mit.edu 37 10 129691019 129691019 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:129691019G>A uc001lka.1 - 0 193 c.30C>T c.(28-30)ttC>ttT p.F10F NM_152311 NP_689524 Q8NCR9 CLRN3_HUMAN Homo sapiens clarin 3 (CLRN3), mRNA. 10 integral to membrane endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235) AGCTTGATAAGAACATCAATG 0.368000 55 9 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57961392 57961392 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:57961392G>A uc001sor.1 + 7 913 c.705G>A c.(703-705)ggG>ggA p.G235G KIF5A_uc010srr.1_Silent_p.G146G NM_004984 NP_004975 Q12840 KIF5A_HUMAN Homo sapiens kinesin family member 5A (KIF5A), mRNA. 235 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACCTGGCAGGGAGTGAGAAGG 0.532000 39 9 0 0 1 0 0 CCDC43 124808 broad.mit.edu 37 17 42759409 42759409 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:42759409G>A uc002ihc.2 - 2 434 c.390C>T c.(388-390)gcC>gcT p.A130A CCDC43_uc021tye.1_5'Flank|CCDC43_uc010czw.1_Silent_p.A130A NM_144609 NP_653210 Q96MW1 CCD43_HUMAN Homo sapiens coiled-coil domain containing 43 (CCDC43), transcript variant 1, mRNA. 130 lung(2) 2 Prostate(33;0.0322) GGGCCAGGAGGGCAGCTTTTC 0.483000 109 18 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68475888 68475888 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:68475888T>A uc001ooc.3 - 9 1555 c.1415A>T c.(1414-1416)aAa>aTa p.K472I NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA. 472 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GCAGTGTTCTTTCTCGGCCTC 0.532000 35 15 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40258627 40258627 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:40258627G>A uc010skm.2 - 5 1307 c.1256C>T c.(1255-1257)tCc>tTc p.S419F C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.S66F NM_052885 NP_443117 Q96QE2 MYCT_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA. 419 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GATGCGTGGGGAAACTTGGGC 0.398000 HNSCC(50;0.14) 41 61 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39868415 39868415 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:39868415C>T uc002olb.3 + 9 2430 c.1395C>T c.(1393-1395)ccC>ccT p.P465P SAMD4B_uc002ola.3_Silent_p.P465P NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA. 465 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCCCGGCTCCCGTCGCCGACG 0.617000 29 10 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195594499 195594499 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:195594499G>A uc003fvu.1 - 11 3168 c.2625C>T c.(2623-2625)ttC>ttT p.F875F TNK2_uc003fvq.1_Silent_p.F282F|TNK2_uc003fvr.1_Silent_p.F400F|TNK2_uc003fvs.1_Silent_p.F907F|TNK2_uc003fvt.1_Silent_p.F953F|TNK2_uc010hzw.1_Non-coding_Transcript NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 875 EBD domain (By similarity).|Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCTCACGCAGGAAGCGCTGGT 0.697000 33 12 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32841898 32841898 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:32841898G>A uc003amn.2 - 3 460 c.460C>T c.(460-462)Cct>Tct p.P154S BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_Intron NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN Homo sapiens BPI fold containing family C (BPIFC), mRNA. 154 extracellular region lipopolysaccharide binding|phospholipid binding TTCAGGGTAGGATGACCAAAG 0.512000 15 16 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062304 144062304 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:144062304C>T uc003wel.3 + 1 2660 c.2542C>T c.(2542-2544)Ccc>Tcc p.P848S ARHGEF5_uc003wek.3_Missense_Mutation_p.P848S|ARHGEF5_uc003wem.3_5'Flank NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 848 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CATAGACCCTCCCACCGAACC 0.597000 51 5 0 0 1 0 0 CRCT1 54544 broad.mit.edu 37 1 152487938 152487938 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152487938C>T uc021oyy.1 + 0 79 c.79C>T c.(79-81)Ccg>Tcg p.P27S CRCT1_uc001ezz.3_Missense_Mutation_p.P27S NM_019060 NP_061933 Q9UGL9 CRCT1_HUMAN Homo sapiens cysteine-rich C-terminal 1 (CRCT1), mRNA. 27 lung(1)|ovary(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) gtgtcccgccccggcgcccac 0.711000 9 5 0 0 1 0 0 FCN3 8547 broad.mit.edu 37 1 27701270 27701270 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:27701270G>A uc001boa.3 - 0 46 c.40C>T c.(40-42)Ctg>Ttg p.L14L FCN3_uc001bob.3_Silent_p.L14L NM_003665 NP_003656 O75636 FCN3_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA. 14 complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCCCCAAGCAGGAGAAGCCAC 0.642000 27 3 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169132 50169132 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:50169132C>T uc002ppa.3 + 0 734 c.52C>T c.(52-54)Cgg>Tgg p.R18W IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W NM_138639 NP_619580 Q9HB09 B2L12_HUMAN Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA. 18 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTGGGTTTCCGGCCAGAGGC 0.577000 34 20 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156592780 156592780 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156592780C>T uc003lwn.3 - 0 500 c.400G>A c.(400-402)Gat>Aat p.D134N NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 134 nucleus p.H133Q(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCTCATGATCGTGGATGGAG 0.527000 49 14 0 0 1 0 0 DCAF16 54876 broad.mit.edu 37 4 17805166 17805166 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:17805166G>T uc003gpn.3 - 2 1660 c.599C>A c.(598-600)tCt>tAt p.S200Y DCAF16_uc021xmp.1_Missense_Mutation_p.S200Y NM_017741 NP_060211 Q9NXF7 DCA16_HUMAN Homo sapiens DDB1 and CUL4 associated factor 16 (DCAF16), mRNA. 200 CUL4 RING ubiquitin ligase complex cervix(1)|endometrium(1)|lung(2)|ovary(1) 5 GTCAGTGTAAGAATAAGTAGT 0.393000 56 17 2.35188e-11 2.38122e-11 1 1 0 FTSJD1 55783 broad.mit.edu 37 16 71318434 71318434 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:71318434A>C uc021tkr.1 - 0 1390 c.1390T>G c.(1390-1392)Ttt>Gtt p.F464V FTSJD1_uc010cga.3_Missense_Mutation_p.F464V|FTSJD1_uc002ezy.4_Missense_Mutation_p.F464V|FTSJD1_uc002ezz.4_Missense_Mutation_p.F464V NM_018348 NP_060818 Q8IYT2 FTSJ1_HUMAN Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA. 464 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAACTATTAAAGTATCCTTTG 0.358000 32 11 0 0 1 0 0 ARNT2 9915 broad.mit.edu 37 15 80845042 80845043 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:80845042_80845043CC>TT uc002bfr.3 + 9 1182_1183 c.1016_1017CC>TT c.(1015-1017)tcc>tTT p.S339F ARNT2_uc010unm.2_Missense_Mutation_p.S328F|ARNT2_uc002bfs.3_Missense_Mutation_p.S328F NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA. 339 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S339F(2) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GAGTTCTTATCCCGGCATAACT 0.490000 80 23 0 0 1 0 0 RNASE3 6037 broad.mit.edu 37 14 21360026 21360026 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:21360026C>T uc021roq.1 + 0 181 c.181C>T c.(181-183)Cga>Tga p.R61* RNASE3_uc001vyj.3_Nonsense_Mutation_p.R61* NM_002935 NP_002926 P12724 ECP_HUMAN Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA. 61 RNA catabolic process|defense response to bacterium extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) TAACAATTATCGATGGCGTTG 0.448000 27 43 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156671278 156671278 + Silent SNP C T T rs55635546 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156671278C>T uc003lwo.1 + 12 1321 c.1239C>T c.(1237-1239)ctC>ctT p.L413L NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 413 Protein kinase. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAGGAAACTCTCTCATCCCA 0.493000 T SYK peripheral T-cell lymphoma 32 8 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2595382 2595382 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:2595382C>T uc009zdu.1 + 5 1183 c.870C>T c.(868-870)ttC>ttT p.F290F CACNA1C_uc001qkc.2_Silent_p.F290F|CACNA1C_uc001qjz.2_Silent_p.F290F|CACNA1C_uc001qkd.2_Silent_p.F290F|CACNA1C_uc001qke.2_Silent_p.F290F|CACNA1C_uc001qkf.2_Silent_p.F290F|CACNA1C_uc009zdw.1_Silent_p.F290F|CACNA1C_uc001qkg.2_Silent_p.F290F|CACNA1C_uc001qkh.2_Silent_p.F290F|CACNA1C_uc001qkl.2_Silent_p.F290F|CACNA1C_uc001qkj.2_Silent_p.F290F|CACNA1C_uc001qkk.2_Silent_p.F290F|CACNA1C_uc001qkn.2_Silent_p.F290F|CACNA1C_uc001qkm.2_Silent_p.F290F|CACNA1C_uc001qko.2_Silent_p.F290F|CACNA1C_uc001qkp.2_Silent_p.F290F|CACNA1C_uc001qkq.2_Silent_p.F290F|CACNA1C_uc001qku.2_Silent_p.F290F|CACNA1C_uc001qkr.2_Silent_p.F290F|CACNA1C_uc001qks.2_Silent_p.F290F|CACNA1C_uc001qkt.2_Silent_p.F290F|CACNA1C_uc009zdv.1_Silent_p.F290F|CACNA1C_uc001qkb.2_Silent_p.F290F|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.F26F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 290 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGGAGCTCTTCATGGGGAAGA 0.582000 42 13 0 0 1 0 0 DEFA5 1670 broad.mit.edu 37 8 6914202 6914202 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:6914202G>A uc003wra.1 - 0 58 c.18C>T c.(16-18)atC>atT p.I6I NM_021010 NP_066290 Q01523 DEF5_HUMAN Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA. 6 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space NS(1)|lung(4)|skin(1)|stomach(1) 7 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) TGGCAGCAAGGATGGCGATGG 0.587000 44 7 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041307 234041307 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:234041307G>A uc001hvy.1 + 1 231 c.86G>A c.(85-87)cGg>cAg p.R29Q NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 0 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GTCAGCCCCCGGAGACTGTCC 0.647000 9 17 0 0 1 0 0 PRC1 9055 broad.mit.edu 37 15 91513659 91513659 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:91513659G>T uc002bqm.3 - 11 1704 c.1547C>A c.(1546-1548)tCt>tAt p.S516Y PRC1_uc002bqn.3_Missense_Mutation_p.S516Y|PRC1_uc002bqo.3_Missense_Mutation_p.S516Y|PRC1_uc010uqs.2_Missense_Mutation_p.S475Y NM_003981 NP_003972 O43663 PRC1_HUMAN Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA. 516 Unstructured, Arg/Lys rich. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding p.S516S(1) endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) AGGAAGTCGAGACACGGGGGA 0.542000 502 23 3.28513e-13 3.33442e-13 1 1 0 PKN1 5585 broad.mit.edu 37 19 14562765 14562766 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:14562765_14562766CC>TT uc002myp.3 + 6 1263_1264 c.1095_1096CC>TT c.(1093-1098)gcccgg>gcTTgg p.R366W PKN1_uc002myq.3_Missense_Mutation_p.R372W NM_002741 NP_002732 Q16512 PKN1_HUMAN Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. 366 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GCCGCCCAGCCCGGGGCCTTTA 0.663000 19 6 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30883591 30883591 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:30883591C>T uc011dmz.2 + 4 624 c.543C>T c.(541-543)tcC>tcT p.S181S VARS2_uc003nsc.2_Silent_p.S151S|VARS2_uc003nsd.3_Silent_p.S151S|VARS2_uc011dmx.2_Silent_p.S151S|VARS2_uc011dmy.2_Silent_p.S11S|VARS2_uc011dna.2_Silent_p.S151S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank NM_001167734 NP_001161205 Q5ST30 SYVM_HUMAN Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA. 151 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TCACTGGCTCCCTGCACATTG 0.572000 56 43 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303922 53303922 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:53303922G>A uc002qad.3 - 3 1333 c.1176C>T c.(1174-1176)ttC>ttT p.F392F ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G392C(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATTTGCGACTGAAAACTTTTT 0.383000 56 21 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066182 9066182 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9066182G>A uc002mkp.3 - 2 21468 c.21264C>T c.(21262-21264)ccC>ccT p.P7088P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7090 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 TTTCCAGAGAGGGAGAGCTTT 0.498000 26 18 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67692517 67692517 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:67692517G>A uc002aqo.2 + 13 2068 c.1971G>A c.(1969-1971)atG>atA p.M657I IQCH_uc002aqp.2_Missense_Mutation_p.M318I|IQCH_uc002aqq.2_Missense_Mutation_p.M314I NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 657 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TCTTTAAAATGGACTCTGAGT 0.443000 35 16 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628527 51628527 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:51628527C>T uc010yct.2 + 0 391 c.296C>T c.(295-297)aCc>aTc p.T99I SIGLEC9_uc002pvu.3_Missense_Mutation_p.T99I NM_001198558 NP_001185487 Q9Y336 SIGL9_HUMAN Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA. 99 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GACCCACATACCAAGAATTGC 0.502000 43 24 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61885166 61885166 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:61885166C>T uc002jbu.3 + 9 1186 c.929C>T c.(928-930)cCc>cTc p.P310L DDX42_uc002jbv.3_Missense_Mutation_p.P310L|DDX42_uc002jbw.1_Missense_Mutation_p.P46L|DDX42_uc002jbx.3_Missense_Mutation_p.P46L NM_007372 NP_987095 Q86XP3 DDX42_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA. 310 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTCATTTGGCCCATGTTGATT 0.458000 78 40 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24372711 24372711 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:24372711G>T uc002dmf.3 + 3 1677 c.475G>T c.(475-477)Gcc>Tcc p.A159S NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 159 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TTATATATCAGCCAACGCCGG 0.443000 105 21 5.35356e-11 5.41809e-11 1 1 0 CDH17 1015 broad.mit.edu 37 8 95158228 95158228 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:95158228G>A uc003ygh.2 - 14 2220 c.2095C>T c.(2095-2097)Cgg>Tgg p.R699W CDH17_uc011lgo.1_Missense_Mutation_p.R485W|CDH17_uc011lgp.1_Missense_Mutation_p.R699W NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 699 Cadherin 7. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TGGGGACCCCGAAATAAGTGC 0.463000 36 9 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242054518 242054518 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:242054518G>A uc002wao.2 - 13 3406 c.3273C>T c.(3271-3273)ttC>ttT p.F1091F PASK_uc010zol.2_Silent_p.F905F|PASK_uc010zom.2_Silent_p.F1056F|PASK_uc010fzl.2_Silent_p.F1091F|PASK_uc010zon.2_Silent_p.F872F|PASK_uc021vzf.1_Silent_p.F1091F|PASK_uc002wap.3_Silent_p.F634F|PASK_uc002waq.3_Silent_p.F1091F NM_015148 NP_055963 Q96RG2 PASK_HUMAN Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. 1091 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.L1090V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CGATGAAAGCGAAGAGGTCTA 0.547000 15 50 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140166278 140166278 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140166278G>A uc003lhb.2 + 0 403 c.403G>A c.(403-405)Ggc>Agc p.G135S PCDHAC2_uc003lha.2_Missense_Mutation_p.G135S|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G135S NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 150 Cadherin 1. 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) CGTCTTCAGGGGCAGAGAACA 0.483000 62 15 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183097128 183097128 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:183097128C>T uc003fli.1 - 2 322 c.232G>A c.(232-234)Gaa>Aaa p.E78K MCF2L2_uc003flj.1_Missense_Mutation_p.E78K|MCF2L2_uc003flp.1_Missense_Mutation_p.E113K NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 78 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AGGAAGTCTTCATCTGGGATG 0.532000 32 10 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47614446 47614446 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:47614446G>A uc002zij.3 - 19 2026 c.1947C>T c.(1945-1947)atC>atT p.I649I LSS_uc002zil.2_Silent_p.I649I|LSS_uc011afv.1_Silent_p.I638I|LSS_uc002zik.2_Silent_p.I569I NM_001001438 NP_002331 P48449 ERG7_HUMAN Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA. 649 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) ATGTGTTATGGATCTGGGACT 0.622000 23 5 0 0 1 0 0 SERINC5 256987 broad.mit.edu 37 5 79465227 79465227 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:79465227G>A uc011ctj.2 - 5 851 c.694C>T c.(694-696)Ctg>Ttg p.L232L SERINC5_uc003kgj.3_Silent_p.L232L|SERINC5_uc003kgm.3_Silent_p.L232L|SERINC5_uc003kgk.3_Silent_p.L232L|SERINC5_uc003kgl.3_Non-coding_Transcript NM_001174072 NP_001167543 Q86VE9 SERC5_HUMAN Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA. 232 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) ACTCCCAGCAGAATTTTGTTT 0.453000 36 14 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134225241 134225241 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:134225241C>T uc003yub.3 + 1 310 c.204C>T c.(202-204)ctC>ctT p.L68L WISP1_uc003yuc.3_Silent_p.L68L|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Silent_p.L68L|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_5'Flank NM_003882 NP_003873 O95388 WISP1_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA. 68 IGFBP N-terminal. Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth extracellular region|soluble fraction insulin-like growth factor binding p.L68I(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GGGTCAGCCTCATCACAGATG 0.647000 23 20 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227441847 227441847 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:227441847A>C uc001hqr.3 - 1 1131 c.188T>G c.(187-189)tTt>tGt p.F63C CDC42BPA_uc001hqs.3_Missense_Mutation_p.F63C|CDC42BPA_uc009xes.3_Missense_Mutation_p.F63C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.F63C NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 63 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.F63L(1) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TTTAGAAGTAAATGGTTTAGC 0.289000 49 15 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025132 16025132 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:16025132G>A uc002nbu.2 - 11 1416 c.1380C>T c.(1378-1380)ccC>ccT p.P460P CYP4F11_uc010eab.1_Missense_Mutation_p.L439F|CYP4F11_uc002nbt.2_Silent_p.P460P NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 460 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CTGCCGAGAAGGGAATAAAAG 0.562000 118 45 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12378153 12378153 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:12378153T>A uc001atv.3 + 30 7314 c.7173T>A c.(7171-7173)ttT>ttA p.F2391L VPS13D_uc001atw.3_Missense_Mutation_p.F2391L|VPS13D_uc001atx.3_Missense_Mutation_p.F1579L|VPS13D_uc001aty.1_Missense_Mutation_p.F129L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 2391 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CCTCCTGCTTTACAGTAGTTC 0.353000 130 46 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564652 176564652 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:176564652G>A uc001gkz.3 + 2 3076 c.1912G>A c.(1912-1914)Gac>Aac p.D638N PAPPA2_uc001gky.1_Missense_Mutation_p.D638N|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 638 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.N637N(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CATGCTGAACGACTTTGACGA 0.602000 31 25 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49005706 49005706 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:49005706G>A uc002pjk.3 - 7 865 c.865C>T c.(865-867)Cac>Tac p.H289Y NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) ACGTAGTTGTGGGAATGCAGG 0.716000 32 12 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56742739 56742739 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:56742739G>A uc001slc.3 - 16 1748 c.1545C>T c.(1543-1545)gaC>gaT p.D515D STAT2_uc001slb.3_Silent_p.D57D|STAT2_uc001sld.3_Silent_p.D511D|STAT2_uc010sqn.2_3'UTR NM_005419 NP_005410 P52630 STAT2_HUMAN Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA. 515 JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGCTCAGCTGGTCTGAGTTGA 0.547000 54 11 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242626 34242626 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:34242626G>A uc021wcr.1 - 0 619 c.619C>T c.(619-621)Cca>Tca p.P207S CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P207S|RBM12_uc002xds.3_Missense_Mutation_p.P207S|RBM12_uc002xdr.3_Missense_Mutation_p.P207S|RBM12_uc021wcq.1_Missense_Mutation_p.P207S NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 207 Pro-rich. nucleus RNA binding|nucleotide binding|protein binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ACTGGAATTGGGGGAATGGAT 0.577000 56 15 0 0 1 0 0 SSTR5 6755 broad.mit.edu 37 16 1128891 1128891 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:1128891C>T uc021taf.1 + 1 94 c.23C>T c.(22-24)tCc>tTc p.S8F LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.S8F NM_001172560 NP_001166031 P35346 SSR5_HUMAN Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA. 8 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) TTCCCAGCCTCCACGCCCAGC 0.721000 10 9 0 0 1 0 0 MPG 4350 broad.mit.edu 37 16 133094 133094 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:133094G>A uc002cfn.3 + 3 677 c.359G>A c.(358-360)cGc>cAc p.R120H MPG_uc002cfm.3_Missense_Mutation_p.R103H|MPG_uc010bqp.3_Missense_Mutation_p.R103H|MPG_uc002cfo.3_Missense_Mutation_p.R115H NM_002434 NP_001015054 P29372 3MG_HUMAN Homo sapiens N-methylpurine-DNA glycosylase (MPG), transcript variant 1, mRNA. 120 R -> C (in dbSNP:rs2308313). DNA dealkylation involved in DNA repair|depurination nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CTCCGAGGCCGCATCGTGGAG 0.637000 Base excision repair (BER), DNA glycosylases 175 4 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669854 158669854 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158669854T>G uc001fsu.1 - 0 589 c.589A>C c.(589-591)Att>Ctt p.I197L NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ACTACCTGAATCATGACGATG 0.458000 94 18 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47632182 47632182 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:47632182G>A uc003crq.2 - 26 3307 c.3189C>T c.(3187-3189)ccC>ccT p.P1063P SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Silent_p.P954P NM_003074 NP_003065 Q92922 SMRC1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA. 1063 Pro-rich. chromatin remodeling|nervous system development|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GGGGTACCCGGGGTCCTAAGA 0.577000 31 10 0 0 1 0 0 VSTM1 284415 broad.mit.edu 37 19 54545183 54545183 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:54545183C>T uc002qcw.4 - 6 716 c.540G>A c.(538-540)gaG>gaA p.E180E VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.E92E|VSTM1_uc002qcx.4_Silent_p.E149E|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.E60E NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA. 180 integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CAGCCTCCTGCTCCGGAAGTT 0.498000 22 13 0 0 1 0 0 PRAMEF14 729528 broad.mit.edu 37 1 13669068 13669068 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:13669068G>A uc009vnw.1 - 3 1301 c.1118C>T c.(1117-1119)tCc>tTc p.S373F NM_001099854 NP_001093324 Q5SWL7 PRA14_HUMAN Homo sapiens PRAME family member 14 (PRAMEF14), mRNA. 373 large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACGAACCAAGGAATTCAAACT 0.542000 38 20 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45811297 45811297 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:45811297C>T uc010gpt.1 + 10 1683 c.1583C>T c.(1582-1584)cCc>cTc p.P528L TRPM2_uc002zet.1_Missense_Mutation_p.P528L|TRPM2_uc002zeu.1_Missense_Mutation_p.P528L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.P528L|TRPM2_uc002zex.1_Missense_Mutation_p.P314L|TRPM2_uc002zey.1_Missense_Mutation_p.P41L NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 528 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AACCTGGACCCCTCCTGCCTG 0.627000 76 22 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72845663 72845663 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:72845663G>A uc002fck.3 - 6 4350 c.3677C>T c.(3676-3678)cCc>cTc p.P1226L ZFHX3_uc002fcl.3_Missense_Mutation_p.P312L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 1226 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTTGCAGTAGGGACACTGGTA 0.567000 22 55 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49670431 49670431 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:49670431C>T uc002efs.3 - 4 2930 c.2632G>A c.(2632-2634)Gac>Aac p.D878N ZNF423_uc010vgn.2_Missense_Mutation_p.D761N NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 878 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCGTCCACGTCATCCTCGCTG 0.607000 22 22 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5410522 5410522 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:5410522G>A uc003soi.4 - 10 4052 c.3703C>T c.(3703-3705)Cgg>Tgg p.R1235W NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 1235 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGTTCTGTCCGGCCCGGGGAA 0.697000 35 14 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44586749 44586749 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:44586749G>A uc002ruf.3 - 0 1065 c.106C>T c.(106-108)Cat>Tat p.H36Y PREPL_uc002rug.3_Missense_Mutation_p.H36Y|PREPL_uc002ruh.3_Missense_Mutation_p.H36Y|PREPL_uc010fax.3_Missense_Mutation_p.H36Y|PREPL_uc002rui.4_Intron|PREPL_uc002ruj.2_Intron|PREPL_uc002ruk.2_Missense_Mutation_p.H36Y|CAMKMT_uc002rum.2_5'Flank|CAMKMT_uc002rul.2_5'Flank NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA. 36 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTGTAACAATGATCAGCGAAG 0.353000 61 30 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341989 121341989 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:121341989T>G uc003eeg.2 + 2 1923 c.1713T>G c.(1711-1713)aaT>aaG p.N571K NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 571 F-box. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AAAGCCAGAATTCTTTAACCA 0.527000 59 22 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89805055 89805055 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:89805055T>A uc010bnp.1 + 5 539 c.449T>A c.(448-450)gTa>gAa p.V150E FANCI_uc002bnm.1_Missense_Mutation_p.V150E|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bno.3_Missense_Mutation_p.V150E|FANCI_uc002bnp.1_5'Flank NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA. 150 DNA repair|cell cycle nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTTCTAGGTGTACTGAGTGGG 0.368000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 61 114 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7611794 7611794 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7611794G>A uc002gis.3 + 2 854 c.457G>A c.(457-459)Gga>Aga p.G153R NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 153 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) GAGCCTGCAGGGAGGTGTGTG 0.617000 9 3 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63883808 63883808 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:63883808G>A uc021qks.1 + 0 69 c.69G>A c.(67-69)gtG>gtA p.V23V MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Silent_p.V23V NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 0 LRRNT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 ccaccgttgtgatgaccacgg 0.682000 6 8 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121649722 121649722 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:121649722C>T uc003eep.2 + 17 1742 c.1589C>T c.(1588-1590)tCc>tTc p.S530F SLC15A2_uc011bjn.1_Missense_Mutation_p.S499F NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 530 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GTCAACATCTCCCTGAGTACA 0.413000 32 9 0 0 1 0 0 PRDX6 9588 broad.mit.edu 37 1 173454548 173454548 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:173454548C>T uc001giy.1 + 2 352 c.301C>T c.(301-303)Ccc>Tcc p.P101S NM_004905 NP_004896 P30041 PRDX6_HUMAN Homo sapiens peroxiredoxin 6 (PRDX6), mRNA. 101 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 GTTACCTTTTCCCATCATCGA 0.468000 43 26 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35254664 35254664 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:35254664C>T uc002yta.1 + 34 4727 c.4459C>T c.(4459-4461)Ctc>Ttc p.L1487F DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.L1482F|ITSN1_uc002ytj.2_Missense_Mutation_p.L1426F|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 1487 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold p.L1487L(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 CAACGACTTCCTCCTGCTGAC 0.483000 40 11 0 0 1 0 0 TMEM225 338661 broad.mit.edu 37 11 123753996 123753996 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:123753996T>G uc001pzi.3 - 3 735 c.527A>C c.(526-528)aAa>aCa p.K176T NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN Homo sapiens transmembrane protein 225 (TMEM225), mRNA. 176 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GTTGTCAGATTTATGGATGTT 0.458000 14 9 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75993911 75993911 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:75993911G>A uc003kek.3 + 32 4528 c.4306G>A c.(4306-4308)Gaa>Aaa p.E1436K IQGAP2_uc011csv.2_Missense_Mutation_p.E932K|IQGAP2_uc003kel.3_Missense_Mutation_p.E932K|IQGAP2_uc010izw.1_Missense_Mutation_p.E137K NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1436 small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGCATTTTATGAAGAGCAAAT 0.328000 22 5 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81167179 81167180 + Missense_Mutation DNP CT TC TC TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:81167179_81167180CT>TC uc002fgh.1 - 34 5842_5843 c.5842_5843AG>GA c.(5842-5844)aga>GAa p.R1948E PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1949 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CAGGATTTCTCTGATGAGGGCA 0.520000 19 3 0 0 1 0 0 LY96 23643 broad.mit.edu 37 8 74922288 74922288 + Missense_Mutation SNP G A A rs143608308 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:74922288G>A uc003yad.3 + 2 369 c.255G>A c.(253-255)atG>atA p.M85I LY96_uc022awb.1_Missense_Mutation_p.M55I NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA. 85 I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TCAACACCATGAATCTTCCAA 0.343000 33 25 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107691340 107691340 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:107691340G>A uc001dvh.4 + 1 843 c.125G>A c.(124-126)gGg>gAg p.G42E NTNG1_uc001dvc.4_Missense_Mutation_p.G42E|NTNG1_uc010out.2_Missense_Mutation_p.G42E|NTNG1_uc001dvf.4_Missense_Mutation_p.G42E|NTNG1_uc001dvd.1_Missense_Mutation_p.G42E NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA. 42 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ACGGAAGAAGGGAAAGTTTGG 0.473000 77 18 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089078 43089078 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:43089078G>A uc001jaf.1 - 4 1435 c.1320C>T c.(1318-1320)ccC>ccT p.P440P ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.P328P|ZNF33B_uc001jad.3_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN Homo sapiens zinc finger protein 33B (ZNF33B), mRNA. 440 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 AACATTCATAGGGTTTCTGCC 0.403000 54 17 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9623898 9623898 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:9623898C>T uc003wss.3 + 24 3708 c.3703C>T c.(3703-3705)Cct>Tct p.P1235S TNKS_uc011kww.2_Missense_Mutation_p.P998S NM_003747 NP_003738 O95271 TNKS1_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA. 1235 PARP catalytic. Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) AACAGGCTGCCCTACACACAA 0.433000 40 10 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46077903 46077903 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:46077903C>T uc002zft.3 + 0 55 c.7C>T c.(7-9)Cac>Tac p.H3Y TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA. 3 intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CACCATGTGCCACACCAGCTG 0.612000 128 30 0 0 1 0 0 GPR52 9293 broad.mit.edu 37 1 174417261 174417261 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:174417261C>T uc001gka.1 + 0 50 c.12C>T c.(10-12)tcC>tcT p.S4S RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA. 4 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 TGAATGAATCCAGGTGGACTG 0.507000 56 24 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134628363 134628363 + Silent SNP C T T rs150957319 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:134628363C>T uc021qbc.1 - 50 7274 c.7173G>A c.(7171-7173)gcG>gcA p.A2391A NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 552 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGCCCTTCTTCGCTAGGCTTC 0.597000 110 43 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18257710 18257710 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:18257710G>A uc022asl.1 + 0 197 c.197G>A c.(196-198)gGg>gAg p.G66E NAT2_uc003wyw.1_Missense_Mutation_p.G66E NM_000015 NP_000006 P11245 ARY2_HUMAN Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA. 66 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) AACCGGGGTGGGTGGTGTCTC 0.473000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 73 22 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102027870 102027870 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:102027870G>A uc021sdx.1 + 0 183 c.37G>A c.(37-39)Gag>Aag p.E13K DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 0 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GGTGGTCGGAGAGGGCGAGGG 0.657000 18 4 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641751 99641751 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:99641751C>T uc001yga.3 - 3 1689 c.1422G>A c.(1420-1422)atG>atA p.M474I BCL11B_uc001ygb.3_Missense_Mutation_p.M403I NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 474 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGTGCGTCTTCATGTGGCGCT 0.706000 T TLX3 T-ALL 16 7 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73748625 73748625 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:73748625G>A uc002jpg.3 + 31 4262 c.4075G>A c.(4075-4077)Ggc>Agc p.G1359S ITGB4_uc002jph.3_Missense_Mutation_p.G1359S|ITGB4_uc002jpi.4_Missense_Mutation_p.G1359S|ITGB4_uc002jpj.3_Missense_Mutation_p.G1359S NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1359 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCTCCATCGGGCAGCCAGAG 0.597000 118 22 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136274 55136274 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:55136274T>A uc010rif.2 + 0 915 c.915T>A c.(913-915)ttT>ttA p.F305L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTCTAACTTTTATAACTCCCA 0.383000 107 29 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182649 140182649 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140182649C>T uc003lhf.2 + 0 1867 c.1867C>T c.(1867-1869)Cgc>Tgc p.R623C PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R623C NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 634 Cadherin 6. 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) CATCCCGTTTCGCGTGGGGCT 0.662000 65 33 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234580612 234580612 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:234580612C>T uc002vus.3 + 0 69 c.32C>T c.(31-33)cCt>cTt p.P11L UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.P11L NM_021027 NP_066307 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA. 14 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) AGCCCCCTTCCTCTATGTGTG 0.557000 13 20 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78709080 78709080 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:78709080C>T uc001jxn.3 - 21 2706 c.2529G>A c.(2527-2529)gtG>gtA p.V843V KCNMA1_uc021ptu.1_Silent_p.V735V|KCNMA1_uc001jxj.2_Silent_p.V789V|KCNMA1_uc001jxk.1_Silent_p.V461V|KCNMA1_uc009xrt.1_Silent_p.V634V|KCNMA1_uc001jxl.1_Silent_p.V468V|KCNMA1_uc001jxo.3_Silent_p.V826V|KCNMA1_uc001jxm.3_Silent_p.V785V|KCNMA1_uc001jxq.3_Silent_p.V788V NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 843 Segment S9. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGATGCAGACCACGACATGGC 0.552000 15 9 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071657 9071657 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9071657T>A uc002mkp.3 - 2 15993 c.15789A>T c.(15787-15789)aaA>aaT p.K5263N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5265 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 TTTCTGCAGATTTTGTCTTAA 0.512000 54 16 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168180053 168180053 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:168180053C>T uc010jjg.3 - 17 2300 c.1880G>A c.(1879-1881)gGc>gAc p.G627D SLIT3_uc003mab.3_Missense_Mutation_p.G627D NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 627 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGAACTCAGGCCGGCAAAGGT 0.542000 21 13 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69120309 69120309 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:69120309C>T uc001suf.3 + 18 1722 c.1607C>T c.(1606-1608)tCc>tTc p.S536F NUP107_uc001sug.3_Missense_Mutation_p.S383F|NUP107_uc010stj.2_Missense_Mutation_p.S507F NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 536 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AAATGGCTTTCCAAAAGCAGA 0.348000 22 49 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11001416 11001416 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:11001416G>A uc002daj.4 + 10 2203 c.2070G>A c.(2068-2070)gcG>gcA p.A690A CIITA_uc002dai.4_Silent_p.A689A|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.A689A|CIITA_uc002dah.2_Silent_p.A641A|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 689 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GGACCTGGGCGATGGCCAAAG 0.657000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 46 42 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210592 100210592 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:100210592G>A uc002taf.3 - 13 1750 c.1606C>T c.(1606-1608)Ccc>Tcc p.P536S AFF3_uc002tag.3_Missense_Mutation_p.P511S|AFF3_uc010fiq.1_Missense_Mutation_p.P511S|AFF3_uc010yvr.1_Missense_Mutation_p.P664S|AFF3_uc002tah.1_Missense_Mutation_p.P536S NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 511 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CAAACGTCGGGGACTTTCCCA 0.547000 34 83 0 0 1 0 0 AL117485 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:18844766G>A uc002zoe.3 + 3 c.2020G>A AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. CAGCCTCTGAGGGCAGCAGTG 0.557000 9 3 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15818773 15818773 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:15818773G>A uc009zif.3 - 7 747 c.653C>T c.(652-654)cCt>cTt p.P218L EPS8_uc001rdb.3_Missense_Mutation_p.P218L|EPS8_uc009zig.3_Intron NM_004447 NP_004438 Q12929 EPS8_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA. 218 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) AGGGGGCGCAGGGGCAGGAGC 0.507000 44 19 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56229998 56229998 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:56229998C>T uc010rjj.2 - 0 880 c.880G>A c.(880-882)Gat>Aat p.D294N OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K293N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TCTTTTACATCCTTATTTCTC 0.403000 55 36 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11299807 11299807 + Silent SNP C T T rs17853611 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:11299807C>T uc001ikk.2 + 4 670 c.510C>T c.(508-510)atC>atT p.I170I CELF2_uc010qbi.2_5'UTR|CELF2_uc010qbj.1_Silent_p.I163I|CELF2_uc001iki.4_Silent_p.I163I|CELF2_uc001ikl.4_Silent_p.I170I|CELF2_uc010qbk.1_Non-coding_Transcript|CELF2_uc010qbl.1_Silent_p.I139I|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.4_Silent_p.I139I|CELF2_uc001ikp.4_Silent_p.I139I|CELF2_uc009xiw.1_3'UTR|CELF2_uc010qbo.1_Silent_p.I52I|CELF2_uc010qbp.1_5'UTR NM_001083591 NP_001077060 O95319 CELF2_HUMAN Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA. 163 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 AATGCCGGATCCTCCGGGGAC 0.488000 27 13 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819414 17819414 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:17819414G>A uc022btm.1 - 0 717 c.717C>T c.(715-717)ccC>ccT p.P239P RAI2_uc004cyf.3_Silent_p.P239P|RAI2_uc004cyg.3_Silent_p.P239P|RAI2_uc011miy.2_Silent_p.P189P|RAI2_uc022btl.1_Silent_p.P239P|RAI2_uc004cyh.4_Silent_p.P239P|RAI2_uc010nfa.3_Silent_p.P239P NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 239 Pro-rich. embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GCACAGGCAAGGGGACGATTA 0.602000 12 15 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36125020 36125020 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:36125020G>A uc001wtj.3 - 27 4362 c.3971C>T c.(3970-3972)tCc>tTc p.S1324F RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.S1324F|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S1337F|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1371F NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 1324 activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TACCTTTAAGGAAACACAAAT 0.308000 23 32 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5135530 5135530 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:5135530C>T uc010xim.2 + 14 2476 c.2368C>T c.(2368-2370)Ccc>Tcc p.P790S KDM4B_uc002mbq.4_Missense_Mutation_p.P756S|KDM4B_uc002mbr.4_Missense_Mutation_p.P514S NM_015015 NP_055830 O94953 KDM4B_HUMAN Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA. 756 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CGGGACCAGCCCCCTGATCGC 0.662000 8 6 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13365981 13365981 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:13365981G>A uc002mwy.3 - 28 4919 c.4683C>T c.(4681-4683)ttC>ttT p.F1561F CACNA1A_uc002mwx.3_Silent_p.F267F|CACNA1A_uc010dzc.2_Silent_p.F1087F|CACNA1A_uc010xnd.2_Silent_p.F1564F|CACNA1A_uc021ups.1_Silent_p.F1561F|CACNA1A_uc010xne.2_Silent_p.F1564F|CACNA1A_uc010dze.2_Silent_p.F1561F|CACNA1A_uc021upt.1_Silent_p.F1562F|CACNA1A_uc002mwv.3_Silent_p.F78F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1562 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.F1562F(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGACACCACGAACTGCCACA 0.587000 23 8 0 0 1 0 0 POU3F3 5455 broad.mit.edu 37 2 105473243 105473243 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:105473243C>T uc010ywg.2 + 0 1275 c.1275C>T c.(1273-1275)ttC>ttT p.F425F NM_006236 NP_006227 P20264 PO3F3_HUMAN Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA. 425 metanephric DCT cell differentiation|metanephric ascending thin limb development|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 AGAGCCACTTCCTCAAGTGCC 0.657000 22 11 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993945 45993945 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:45993945C>T uc002zfk.1 + 0 340 c.310C>T c.(310-312)Ccc>Tcc p.P104S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA. 104 36 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TGCCTCCTCCCCCTGCCAGCA 0.657000 97 21 0 0 1 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41015530 41015530 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:41015530T>A uc003jmj.4 - 28 3425 c.2935A>T c.(2935-2937)Agt>Tgt p.S979C HEATR7B2_uc003jmi.4_Missense_Mutation_p.S534C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 979 binding 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 ACGTCATCACTTTCCAGCCCT 0.403000 19 28 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166924661 166924661 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:166924661G>A uc003irh.2 + 5 1398 c.751G>A c.(751-753)Gaa>Aaa p.E251K TLL1_uc021xud.1_Missense_Mutation_p.E251K|TLL1_uc011cjn.2_Missense_Mutation_p.E251K|TLL1_uc011cjo.2_Missense_Mutation_p.E75K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 251 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTTTTGGCATGAACACACAAG 0.448000 30 8 0 0 1 0 0 C14orf118 55668 broad.mit.edu 37 14 76621053 76621053 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:76621053C>T uc001xsh.3 + 1 433 c.347C>T c.(346-348)tCc>tTc p.S116F C14orf118_uc001xsi.3_Missense_Mutation_p.S116F|C14orf118_uc001xsj.1_Missense_Mutation_p.S116F|C14orf118_uc001xsk.1_Missense_Mutation_p.S116F|C14orf118_uc001xsl.3_Non-coding_Transcript NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA. 116 endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2) 16 BRCA - Breast invasive adenocarcinoma(234;0.0172) GAATCTGACTCCTTTACTGAA 0.493000 30 13 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45380161 45380161 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:45380161G>A uc002ilj.3 + 12 2109 c.2089G>A c.(2089-2091)Gaa>Aaa p.E697K ITGB3_uc010wkr.1_Non-coding_Transcript NM_000212 NP_000203 P05106 ITB3_HUMAN Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA. 697 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CCAGTACTATGAAGATTCTAG 0.507000 41 7 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83023623 83023623 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:83023623G>A uc003uhy.2 - 12 2111 c.1490C>T c.(1489-1491)tCt>tTt p.S497F SEMA3E_uc022agy.1_Missense_Mutation_p.S437F NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 497 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CCGCTTTGAAGAAATCTCCAT 0.323000 14 9 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101775564 101775564 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:101775564C>T uc021sxt.1 - 1 1015 c.539G>A c.(538-540)cGt>cAt p.R180H NM_014918 NP_055733 Q86X52 CHSS1_HUMAN Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA. 180 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTTCTCCAGACGGTCTCCTTT 0.502000 89 14 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168431 36168431 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:36168431C>T uc003olv.4 + 1 556 c.332C>T c.(331-333)tCc>tTc p.S111F BRPF3_uc010jwb.3_Missense_Mutation_p.S111F|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.S111F NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 111 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 TCTGGTACTTCCTTCCACCTC 0.547000 113 14 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55399494 55399494 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55399494A>T uc002qhr.1 + 3 679 c.482A>T c.(481-483)gAg>gTg p.E161V FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.E161V|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.E134V|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.E161V|FCAR_uc002qhw.1_Missense_Mutation_p.E149V|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.E149V|FCAR_uc002qhz.1_Missense_Mutation_p.E149V|FCAR_uc002qia.1_Missense_Mutation_p.E52V NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 161 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CTGGCCAAGGAGGGAGAACTT 0.527000 14 8 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79069818 79069818 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:79069818C>T uc002bej.4 - 8 1646 c.1435G>A c.(1435-1437)Ggg>Agg p.G479R ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G479R NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 479 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GAGTAGGCCCCGTACTGGAGG 0.652000 17 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070319 9070319 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9070319G>A uc002mkp.3 - 2 17331 c.17127C>T c.(17125-17127)gcC>gcT p.A5709A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5711 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 AAGCATGCATGGCTTCTGTGT 0.507000 29 12 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127973380 127973380 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:127973380G>A uc003vmp.2 - 8 1098 c.983C>T c.(982-984)cCc>cTc p.P328L RBM28_uc011koj.1_Missense_Mutation_p.P187L|RBM28_uc011kok.1_Missense_Mutation_p.P275L NM_018077 NP_060547 Q9NW13 RBM28_HUMAN Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. 328 RNA splicing|mRNA processing Golgi apparatus|nucleolus|spliceosomal complex RNA binding|nucleotide binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 CACATCAGAGGGTAATTTCCT 0.373000 31 5 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 56990164 56990164 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:56990164G>A uc001cyj.2 - 2 928 c.360C>T c.(358-360)aaC>aaT p.N120N NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 120 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CCACGTAGGGGTTCTGAATCG 0.507000 46 19 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2965252 2965252 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:2965252C>T uc022aqr.1 - 44 7213 c.6823G>A c.(6823-6825)Gat>Aat p.D2275N CSMD1_uc011kwj.2_Missense_Mutation_p.D1668N|CSMD1_uc010lrg.3_Missense_Mutation_p.D344N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2276 Sushi 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTTCGAAATCATCATCCTCA 0.348000 31 18 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188900 140188900 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140188900C>A uc003lhi.2 + 0 2229 c.2128C>A c.(2128-2130)Ctt>Att p.L710I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.L710I|PCDHAC2_uc011daa.2_Missense_Mutation_p.L710I NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 718 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) GGTGTCCAGCCTTTTGGTGCT 0.662000 59 20 3.5997e-14 3.65677e-14 1 1 0 SLC1A3 6507 broad.mit.edu 37 5 36629616 36629616 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:36629616C>T uc003jkj.4 + 2 722 c.246C>T c.(244-246)tcC>tcT p.S82S SLC1A3_uc011cox.2_Intron|SLC1A3_uc010iuy.3_Silent_p.S82S NM_004172 NP_004163 P43003 EAA1_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA. 82 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) AGTACTTCTCCTTTCCTGGGG 0.398000 110 31 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48741202 48741202 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48741202G>A uc002isl.3 + 8 1239 c.1159G>A c.(1159-1161)Ggt>Agt p.G387S ABCC3_uc002isk.4_Missense_Mutation_p.G387S|ABCC3_uc002ism.3_Missense_Mutation_p.G69S NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 387 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TGGGATCATGGGTGTCATCTA 0.547000 57 6 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54416363 54416363 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:54416363G>A uc003jpo.2 - 9 1408 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S CDC20B_uc003jpn.2_Missense_Mutation_p.P411S|CDC20B_uc010ivu.2_Intron NM_001170402 NP_001163873 Q86Y33 CD20B_HUMAN Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA. 411 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) GACTGCCAGGGACACCAATCC 0.488000 61 13 0 0 1 0 0 KRT36 8689 broad.mit.edu 37 17 39644581 39644581 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39644581C>T uc002hwt.3 - 2 613 c.613G>A c.(613-615)Gag>Aag p.E205K NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 205 Coil 1B.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) AGGGTCAGCTCATCCAGGATC 0.592000 58 53 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 197009702 197009702 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:197009702A>T uc010ial.3 - 3 425 c.166T>A c.(166-168)Tat>Aat p.Y56N DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.Y56N|DLG1_uc003fxn.4_Missense_Mutation_p.Y56N|DLG1_uc011bue.2_Missense_Mutation_p.Y56N|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.Y56N NM_001098424 NP_001091894 Q12959 DLG1_HUMAN Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA. 56 L27. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTCACTTCATAAAATTCTTGA 0.313000 110 28 0 0 1 0 0 GGN 199720 broad.mit.edu 37 19 38876690 38876690 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:38876690C>T uc002oij.1 - 2 1347 c.1212G>A c.(1210-1212)cgG>cgA p.R404R GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.R321R NM_152657 NP_689870 Q86UU5 GGN_HUMAN Homo sapiens gametogenetin (GGN), mRNA. 404 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTGCGGGCCTCCGGGGCCCGG 0.726000 6 5 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124065235 124065235 + Silent SNP C T T rs116956127 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:124065235C>T uc004blf.1 + 2 457 c.396C>T c.(394-396)acC>acT p.T132T GSN_uc004bld.1_Silent_p.T81T|GSN_uc010mvr.1_Silent_p.T92T|GSN_uc010mvq.1_Silent_p.T92T|GSN_uc010mvu.1_Silent_p.T81T|GSN_uc010mvt.1_Silent_p.T81T|GSN_uc010mvs.1_Silent_p.T81T|GSN_uc004ble.1_Silent_p.T81T|GSN_uc010mvv.1_Silent_p.T81T|GSN_uc011lyh.1_Silent_p.T98T|GSN_uc011lyi.1_Silent_p.T81T|GSN_uc011lyj.1_Silent_p.T105T NM_000177 NP_000168 P06396 GELS_HUMAN Homo sapiens gelsolin (GSN), transcript variant 1, mRNA. 132 Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 CCATCTTTACCGTGCAGCTGG 0.607000 70 17 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134660720 134660720 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:134660720C>T uc021qbc.1 - 41 6159 c.6058G>A c.(6058-6060)Gag>Aag p.E2020K NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 181 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CTGCAGTGCTCCTCCGGGGCT 0.697000 35 27 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45535577 45535577 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:45535577C>T uc002zeb.3 + 6 702 c.612C>T c.(610-612)taC>taT p.Y204Y NM_005049 NP_005040 Q15269 PWP2_HUMAN Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA. 204 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TGCAGCTGTACTCACTCAGCC 0.662000 82 45 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134350999 134350999 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:134350999C>T uc004can.4 + 14 3538 c.3483C>T c.(3481-3483)ctC>ctT p.L1161L PRRC2B_uc010mzj.1_Silent_p.L744L|PRRC2B_uc004cao.4_Silent_p.L519L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 1161 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 AAGGCTCGCTCCTGGAGAGGG 0.597000 16 5 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79173560 79173561 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:79173560_79173561GG>AA uc002jzp.1 - 8 1181_1182 c.981_982CC>TT c.(979-984)gcccgg>gcTTgg p.R328W AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R328W|AZI1_uc002jzo.1_Missense_Mutation_p.R328W|AZI1_uc010wum.1_Missense_Mutation_p.R328W NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA. 328 G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle p.A327S(1)|p.A327fs*23(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TTCTCCTCCCGGGCCTTCCTCC 0.688000 63 62 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169105801 169105801 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:169105801G>A uc003irm.3 + 10 1039 c.875G>A c.(874-876)cGa>cAa p.R292Q ANXA10_uc003irn.3_Missense_Mutation_p.R164Q NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN Homo sapiens annexin A10 (ANXA10), mRNA. 292 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) TACAAAGAGCGATATGGAAAA 0.353000 72 25 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70066197 70066197 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:70066197C>T uc003heh.3 - 5 1560 c.1551G>A c.(1549-1551)tgG>tgA p.W517* AK124272_uc003hei.1_Non-coding_Transcript NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 517 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TAGCAAACTTCCAGAAACAAA 0.403000 39 25 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129831618 129831618 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:129831618C>T uc004bqo.2 + 7 860 c.593C>T c.(592-594)cCa>cTa p.P198L RALGPS1_uc022bno.1_Missense_Mutation_p.P198L|RALGPS1_uc011mab.2_Missense_Mutation_p.P198L|RALGPS1_uc011mac.2_Missense_Mutation_p.P198L|RALGPS1_uc004bqq.4_Missense_Mutation_p.P198L NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA. 198 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 AAGATGGTTCCAAGTATTCCC 0.373000 49 19 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44035263 44035263 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:44035263G>A uc001cjr.3 + 5 722 c.382G>A c.(382-384)Gaa>Aaa p.E128K PTPRF_uc001cjq.4_Missense_Mutation_p.E128K|PTPRF_uc001cjs.3_Missense_Mutation_p.E128K|PTPRF_uc001cjt.4_Missense_Mutation_p.E128K NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 128 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTCTGCAGAGGAACAGCTGCC 0.617000 72 14 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6461429 6461429 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:6461429A>T uc001mdg.2 - 3 363 c.302T>A c.(301-303)tTc>tAc p.F101Y HPX_uc009yfc.2_Non-coding_Transcript|HPX_uc010rai.1_Missense_Mutation_p.F101Y NM_000613 NP_000604 P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 101 Hemopexin-like 2. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) ACCTTGACGGAATGCAGCATC 0.527000 36 23 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35647928 35647928 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:35647928C>T uc003xjr.2 + 16 3037 c.2709C>T c.(2707-2709)aaC>aaT p.N903N UNC5D_uc003xjs.2_Silent_p.N898N|UNC5D_uc003xju.2_Silent_p.N479N|UNC5D_uc022atw.1_5'Flank NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 903 Death. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCATTTTGAACCTGTGGGAAG 0.423000 31 25 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170828502 170828502 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:170828502C>T uc003fhh.2 - 19 2629 c.2284_splice c.e19+1 p.A762_splice TNIK_uc003fhi.2_Splice_Site_p.A707_splice|TNIK_uc003fhj.2_Splice_Site_p.A733_splice|TNIK_uc003fhk.2_Splice_Site_p.A762_splice|TNIK_uc003fhl.2_Splice_Site_p.A678_splice|TNIK_uc003fhm.2_Splice_Site_p.A707_splice|TNIK_uc003fhn.2_Splice_Site_p.A733_splice|TNIK_uc003fho.2_Splice_Site_p.A678_splice NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA. 762 Mediates interaction with NEDD4. 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) GAAAGTTTTACCTCGAACTCT 0.547000 1 2 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105180906 105180906 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:105180906C>T uc001ypb.2 + 20 3550 c.3407C>T c.(3406-3408)tCc>tTc p.S1136F INF2_uc001ypc.2_Missense_Mutation_p.S1136F|INF2_uc010awz.1_Non-coding_Transcript NM_022489 NP_071934 Q27J81 INF2_HUMAN Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA. 1136 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm Rho GTPase binding|actin binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GATCCCACGTCCTTGCTGGGC 0.652000 53 24 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127728915 127728915 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:127728915G>A uc003kuu.3 - 9 1817 c.1378C>T c.(1378-1380)Ccc>Tcc p.P460S FBN2_uc003kuv.2_Missense_Mutation_p.P427S NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 460 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) CCAGGGATGGGGATGAAGCCT 0.607000 65 40 0 0 1 0 0 DTWD1 56986 broad.mit.edu 37 15 49935604 49935604 + Silent SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:49935604T>G uc001zxq.3 + 5 1021 c.744T>G c.(742-744)ctT>ctG p.L248L DTWD1_uc001zxs.3_Silent_p.L248L|DTWD1_uc001zxr.3_Silent_p.L161L NM_020234 NP_064619 Q8N5C7 DTWD1_HUMAN Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA. 248 endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) ATACTTTCCTTTCTACAATTG 0.303000 45 33 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87451093 87451093 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:87451093G>A uc002fjz.1 - 7 972 c.945C>T c.(943-945)ccC>ccT p.P315P ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.P91P NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA. 315 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCTTAAAGACGGGGTAATACT 0.512000 OREG0024030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 80 36 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510360 169510360 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:169510360G>A uc001ggg.1 - 12 4113 c.3968C>T c.(3967-3969)cCa>cTa p.P1323L NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1323 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. 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) GCTGAGGTCTGGAGAAATGGG 0.522000 242 53 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115118354 115118354 + Silent SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:115118354G>T uc001efa.3 - 3 329 c.276C>A c.(274-276)ccC>ccA p.P92P DENND2C_uc001eez.3_Non-coding_Transcript NM_005872 NP_005863 O75934 SPF27_HUMAN Homo sapiens breast carcinoma amplified sequence 2 (BCAS2), mRNA. 92 RNA splicing, via transesterification reactions|mRNA processing nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GACCAGAGGAGGGGGCTGGAA 0.383000 29 14 1.5842e-08 1.60063e-08 1 1 0 ELAC2 60528 broad.mit.edu 37 17 12896263 12896263 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:12896263G>A uc002gnz.4 - 23 2470 c.2353C>T c.(2353-2355)Cgg>Tgg p.R785W ELAC2_uc002gnu.4_Missense_Mutation_p.R182W|ELAC2_uc002gnv.4_Missense_Mutation_p.R413W|ELAC2_uc002gnx.4_Missense_Mutation_p.R545W|ELAC2_uc010vvo.2_Missense_Mutation_p.R583W|ELAC2_uc010vvp.2_Missense_Mutation_p.R766W|ELAC2_uc010vvq.2_Missense_Mutation_p.R784W|ELAC2_uc010vvr.2_Missense_Mutation_p.R745W NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 785 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CGCAGCTCCCGCTTCTCCCTG 0.652000 47 12 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566214 27566214 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:27566214G>A uc002rju.1 - 1 638 c.241C>T c.(241-243)Cct>Tct p.P81S GTF3C2_uc002rjv.1_Missense_Mutation_p.P70S|GTF3C2_uc002rjw.1_Missense_Mutation_p.P70S|GTF3C2_uc010eyz.2_Missense_Mutation_p.P70S NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA. 70 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTCTGGAGGGAGCCTCCTC 0.488000 105 40 0 0 1 0 0 BRPF1 7862 broad.mit.edu 37 3 9785284 9785284 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:9785284C>A uc003bse.3 + 7 2715 c.2316C>A c.(2314-2316)gtC>gtA p.V772V BRPF1_uc003bsf.3_Silent_p.V778V|BRPF1_uc003bsg.3_Silent_p.V771V|BRPF1_uc011ati.2_Silent_p.V772V NM_004634 NP_004625 P55201 BRPF1_HUMAN Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA. 772 Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) AGCGGCTGGTCTTGCTGGAGA 0.607000 53 10 5.50884e-06 5.54527e-06 1 1 0 DOCK5 80005 broad.mit.edu 37 8 25132911 25132911 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:25132911C>T uc003xeg.3 + 3 315 c.178C>T c.(178-180)Cct>Tct p.P60S DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xef.3_Missense_Mutation_p.P60S NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA. 60 SH3. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GGGCATTTTCCCTGAAACATA 0.363000 17 7 0 0 1 0 0 OR2B2 81697 broad.mit.edu 37 6 27879911 27879911 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:27879911G>A uc011dkw.2 - 0 264 c.187C>T c.(187-189)Ctt>Ttt p.L63F NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGATTGCTAAGAAAAAAGTAC 0.388000 41 6 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58109091 58109091 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:58109091C>T uc003djj.2 + 20 3563 c.3398C>T c.(3397-3399)cCc>cTc p.P1133L FLNB_uc010hne.2_Missense_Mutation_p.P1133L|FLNB_uc003djk.2_Missense_Mutation_p.P1133L|FLNB_uc010hnf.2_Missense_Mutation_p.P1133L|FLNB_uc003djl.2_Missense_Mutation_p.P964L|FLNB_uc003djm.2_Missense_Mutation_p.P964L NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 1133 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCCTTTGACCCCTCTAAAGTC 0.582000 102 38 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558185 140558185 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140558185G>A uc011dai.2 + 0 815 c.570G>A c.(568-570)agG>agA p.R190R PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 190 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGATGGCAGGAAATACCCAG 0.502000 56 9 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86940730 86940730 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:86940730C>T uc002blz.1 + 16 2450 c.2370C>T c.(2368-2370)atC>atT p.I790I NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 790 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 AAAACTTCATCTTCAAGATCA 0.507000 73 19 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854010 88854010 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:88854010C>T uc010kbz.3 - 1 1114 c.984G>A c.(982-984)caG>caA p.Q328Q CNR1_uc011dzr.2_Silent_p.Q328Q|CNR1_uc011dzs.2_Silent_p.Q328Q|CNR1_uc003pmq.4_Silent_p.Q328Q|CNR1_uc011dzt.2_Silent_p.Q328Q|CNR1_uc010kca.3_Silent_p.Q295Q|CNR1_uc021zco.1_Silent_p.Q328Q NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 328 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GCCGGGTCACCTGTACCTTCC 0.567000 21 21 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58475311 58475311 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:58475311G>A uc002yaz.3 - 16 1425 c.1286C>T c.(1285-1287)cCa>cTa p.P429L SYCP2_uc010gju.1_Missense_Mutation_p.P330L NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 429 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TTCTCCGACTGGTGAGATTTG 0.343000 20 8 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24475459 24475459 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:24475459C>T uc003ned.1 - 5 442 c.331_splice c.e5-1 p.D111_splice GPLD1_uc010jpr.1_Splice_Site|GPLD1_uc010jps.1_Splice_Site_p.D111_splice|GPLD1_uc003nee.3_Splice_Site_p.D111_splice NM_001503 NP_001494 P80108 PHLD_HUMAN Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA. 111 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TTCTCTGTGTCCTGCCAAACA 0.368000 41 13 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1409191 1409191 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:1409191G>A uc003jck.3 - 10 1574 c.1448C>T c.(1447-1449)tCc>tTc p.S483F NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 483 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AAAGAGGATGGACGTGCCGGC 0.597000 21 5 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760588 133760588 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:133760588C>T uc004bzw.3 + 10 2914 c.2911C>T c.(2911-2913)Ccg>Tcg p.P971S ABL1_uc004bzv.3_Missense_Mutation_p.P990S NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 971 F-actin-binding.|Pro-rich. DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GTCCGCCAAGCCGTCGGGGAC 0.672000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 89 14 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987545 61987545 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:61987545C>T uc002jda.1 - 3 510 c.448G>A c.(448-450)Gaa>Aaa p.E150K CSHL1_uc002jcz.1_Missense_Mutation_p.E127K|CSHL1_uc002jdb.1_Missense_Mutation_p.E56K|CSHL1_uc002jdc.1_Missense_Mutation_p.E67K|CSHL1_uc002jdd.1_Missense_Mutation_p.E88K|CSHL1_uc021ubn.1_3'UTR NM_022579 NP_001309 Q14406 CSHL_HUMAN Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA. 150 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TGGATGCCTTCCTCTAGGTCC 0.602000 72 23 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46567235 46567235 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:46567235G>A uc001ncv.2 - 4 784 c.470C>T c.(469-471)gCc>gTc p.A157V AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Missense_Mutation_p.A157V|AMBRA1_uc001ncu.1_Missense_Mutation_p.A157V|AMBRA1_uc010rgu.1_Missense_Mutation_p.A157V|AMBRA1_uc001ncw.2_Missense_Mutation_p.A157V|AMBRA1_uc001ncx.2_Missense_Mutation_p.A157V NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 157 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GATCTCATTGGCAGTGGCAAT 0.567000 50 14 0 0 1 0 0 PILRB 29990 broad.mit.edu 37 7 99956512 99956512 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:99956512C>T uc022aim.1 + 6 1336 c.264C>T c.(262-264)tcC>tcT p.S88S PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.S88S NM_178238 NP_839956 Q9UKJ0 PILRB_HUMAN Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA. 88 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCGCCTTCCATTCACAAGG 0.547000 120 14 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52439468 52439468 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:52439468G>A uc001vfu.4 + 2 250 c.-46_splice c.e2-1 CCDC70_uc021rjv.1_5'Flank NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN Homo sapiens coiled-coil domain containing 70 (CCDC70), mRNA. extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GCCCCCACAGGGTCTGACCAG 0.532000 11 5 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119382666 119382666 + Silent SNP G A A rs148013478 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:119382666G>A uc004bjt.2 - 16 3077 c.2976C>T c.(2974-2976)atC>atT p.I992I ASTN2_uc022bml.1_Silent_p.I688I|ASTN2_uc022bmm.1_Silent_p.I692I|ASTN2_uc004bjp.2_Silent_p.I144I|ASTN2_uc011lxr.2_Silent_p.I95I|ASTN2_uc011lxs.2_Silent_p.I95I|ASTN2_uc011lxt.2_Silent_p.I95I|ASTN2_uc004bjq.2_Silent_p.I95I|ASTN2_uc022bmn.1_Silent_p.I95I NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 1043 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACCAGTCATCGATCACATCCC 0.532000 62 66 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75276987 75276987 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:75276987C>T uc001xqj.4 + 8 5216 c.5092C>T c.(5092-5094)Cgt>Tgt p.R1698C YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R181C NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TTATTTTGATCGTCAAAGTAA 0.393000 28 23 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19574200 19574200 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:19574200G>A uc001vuz.1 + 8 1309 c.1257G>A c.(1255-1257)atG>atA p.M419I POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 419 p.E418*(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 AAGAAGAAATGAAGAAGCACG 0.358000 17 11 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101156531 101156531 + Missense_Mutation SNP C T T rs146990467 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:101156531C>T uc004ays.3 - 8 1764 c.1304G>A c.(1303-1305)aGg>aAg p.R435K NM_005458 NP_005449 O75899 GABR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA. 435 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CTTCACCTCCCTGCTGTCTGT 0.562000 19 13 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104193153 104193154 + Missense_Mutation DNP GG AC AC TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:104193153_104193154GG>AC uc004bbk.2 - 1 98_99 c.16_17CC>GT c.(16-18)cca>GTa p.P6V NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 6 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) GGTGAGGGCTGGAAATCGGTGG 0.540000 23 5 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77623762 77623762 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:77623762G>A uc011bgk.2 + 14 2739 c.2096G>A c.(2095-2097)cGa>cAa p.R699Q ROBO2_uc021xat.1_Missense_Mutation_p.R711Q|ROBO2_uc003dpy.4_Missense_Mutation_p.R695Q|ROBO2_uc003dpz.3_Missense_Mutation_p.R699Q|ROBO2_uc011bgj.2_Non-coding_Transcript NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 695 Fibronectin type-III 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding p.R695Q(1) NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCGACTGAACGAAGTGCTGTC 0.443000 32 22 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2020537 2020537 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:2020537G>A uc003wpx.4 + 8 1044 c.906G>A c.(904-906)ctG>ctA p.L302L MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 302 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GCACCATGCTGGTGACGCCGG 0.617000 35 11 0 0 1 0 0 C1orf210 149466 broad.mit.edu 37 1 43748474 43748474 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:43748474C>T uc001cit.4 - 2 558 c.324G>A c.(322-324)agG>agA p.R108R C1orf210_uc021omn.1_Silent_p.R108R NM_182517 NP_872323 Q8IVY1 CA210_HUMAN Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA. 108 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGAAGTGGTCCCTGCTACCCT 0.572000 26 35 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48826246 48826246 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:48826246C>T uc004dlx.1 - 0 2006 c.433G>A c.(433-435)Gag>Aag p.E145K KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA. 145 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity p.A144V(1) endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 GCCAGGCGCTCGGCATTCTCC 0.657000 18 6 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28654776 28654776 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:28654776G>A uc002kwl.4 - 11 2215 c.1761C>T c.(1759-1761)ccC>ccT p.P587P DSC2_uc002kwk.4_Silent_p.P587P NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 587 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ATGACATGGTGGGTTTGCAGA 0.463000 9 16 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52549467 52549467 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52549467G>A uc003dej.3 + 36 3967 c.3893G>A c.(3892-3894)cGa>cAa p.R1298Q NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 1298 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGTGTCTACCGATCTGGCTTC 0.612000 40 16 0 0 1 0 0 CRYBB2P1 1416 broad.mit.edu 37 22 25853291 25853291 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:25853291C>T uc003abt.3 + 3 c.512C>T CRYBB2P1_uc003abu.3_Non-coding_Transcript|CRYBB2P1_uc003abv.3_Non-coding_Transcript Homo sapiens crystallin, beta B2 pseudogene 1 (CRYBB2P1), transcript variant 1, non-coding RNA. AGATGGAAATCATAGATGACG 0.532000 5 6 0 0 1 0 0 DLK1 8788 broad.mit.edu 37 14 101201053 101201053 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:101201053C>T uc001yhs.4 + 4 1176 c.972C>T c.(970-972)atC>atT p.I324I DLK1_uc001yhu.4_Silent_p.I251I|DLK1_uc021sbs.1_Silent_p.I36I NM_003836 NP_003827 P80370 DLK1_HUMAN Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA. 324 multicellular organismal development extracellular space|integral to membrane|soluble fraction breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CTGTGGGTATCGTCTTCCTCA 0.587000 49 21 0 0 1 0 0 GOLGA8E 390535 broad.mit.edu 37 15 23443526 23443526 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:23443526G>A uc001yvu.3 + 12 1627 c.612G>A c.(610-612)caG>caA p.Q204Q JA429730_uc021sfs.1_5'Flank Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA. endometrium(1)|kidney(1)|lung(3)|skin(1) 6 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614) CCAGCCAGCAGAAACAGCAGC 0.637000 15 10 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42050647 42050647 + Silent SNP G A A rs141964626 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:42050647G>A uc003xos.2 - 1 266 c.57C>T c.(55-57)ttC>ttT p.F19F PLAT_uc010lxf.1_Silent_p.F19F|PLAT_uc010lxg.1_Silent_p.F19F|PLAT_uc003xot.2_Silent_p.F19F|PLAT_uc011lcm.1_Silent_p.F19F|PLAT_uc011lcn.1_Silent_p.F19F NM_000930 NP_000921 P00750 TPA_HUMAN Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA. 19 blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGGGCGAAACGAAGACTGCTC 0.567000 33 8 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67802121 67802121 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:67802121A>T uc001vik.3 - 1 1144 c.452T>A c.(451-453)aTt>aAt p.I151N PCDH9_uc001vil.3_Missense_Mutation_p.I151N|PCDH9_uc010thl.2_Missense_Mutation_p.I151N|PCDH9_uc001vin.3_Missense_Mutation_p.I151N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA. 151 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTTTTCTGGAATGGAAATATT 0.393000 60 33 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39978594 39978594 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39978594G>A uc002hxv.2 + 9 2008 c.1683G>A c.(1681-1683)aaG>aaA p.K561K FKBP10_uc002hxw.1_Silent_p.K325K NM_021939 NP_068758 Q96AY3 FKB10_HUMAN Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA. 561 EF-hand 2. protein folding endoplasmic reticulum lumen|membrane FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) AGGACGGCAAGATCACAGTCG 0.597000 17 19 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47253976 47253976 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:47253976G>A uc003oyv.3 - 1 885 c.452C>T c.(451-453)cCt>cTt p.P151L NM_014452 NP_055267 O75509 TNR21_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA. 151 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CCAACCCACAGGACACACCGT 0.542000 103 29 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157375 154157375 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:154157375G>A uc004fmt.3 - 13 4861 c.4690C>T c.(4690-4692)Ccc>Tcc p.P1564S NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 1564 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.P1564S(3) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTCAGAAAGGGAACTTTTCCA 0.483000 39 129 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158390148 158390148 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158390148G>A uc010pii.2 - 0 509 c.509C>T c.(508-510)tCc>tTc p.S170F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S170F(2) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) TTGATTGGAGGAATAAAAAGG 0.473000 68 10 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144885708 144885708 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:144885708G>A uc003yzp.1 - 23 3455 c.3448C>T c.(3448-3450)Cgg>Tgg p.R1150W SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1150W NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1150 Interaction with ARHGEF7.|PDZ 4. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACACGCAGCCGACCGTCGCGC 0.726000 18 12 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131522018 131522018 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:131522018G>A uc021voy.1 + 0 2373 c.2373G>A c.(2371-2373)ctG>ctA p.L791L FAM123C_uc002trw.2_Silent_p.L791L|FAM123C_uc010fmv.2_Silent_p.L791L|FAM123C_uc010fms.1_Silent_p.L791L|FAM123C_uc010fmt.1_Silent_p.L791L|FAM123C_uc010fmu.1_Silent_p.L791L NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 791 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCAGCCAGCTGGACTCTGAGC 0.677000 5 3 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284365 118284365 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:118284365C>T uc004era.4 - 0 178 c.178G>A c.(178-180)Gga>Aga p.G60R NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 60 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTGGTGCTTCCCTCCTTCTTG 0.582000 16 7 0 0 1 0 0 HOXD10 3236 broad.mit.edu 37 2 176981827 176981827 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:176981827G>A uc002ukj.3 + 0 336 c.266G>A c.(265-267)cGa>cAa p.R89Q NM_002148 NP_002139 P28358 HXD10_HUMAN Homo sapiens homeobox D10 (HOXD10), mRNA. 89 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) AGATCTTGTCGAATAGAGCAA 0.428000 33 13 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073051 15073052 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:15073051_15073052CC>TT uc002naa.1 - 4 704_705 c.697_698GG>AA c.(697-699)gga>AAa p.G233K SLC1A6_uc010dzu.1_Missense_Mutation_p.G233K|SLC1A6_uc010xod.1_Missense_Mutation_p.G169K|SLC1A6_uc002nab.3_Missense_Mutation_p.G233K|SLC1A6_uc002nac.3_Missense_Mutation_p.G233K NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 233 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GAAGCTGGTTCCGTTCTCCACT 0.594000 46 21 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13916465 13916465 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:13916465A>G uc003bye.1 - 1 582 c.277T>C c.(277-279)Ttc>Ctc p.F93L NM_004625 NP_004616 O00755 WNT7A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA. 93 Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TCCTTCCCGAAGACGGTGCGC 0.577000 23 5 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266630 107266630 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:107266630G>A uc011lvm.2 + 0 87 c.87G>A c.(85-87)gcG>gcA p.A29A NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A29A(2) endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCATATTTGCGGTGTGCTTGC 0.423000 49 43 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140229903 140229903 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140229903C>T uc003lhu.2 + 0 2547 c.1823C>T c.(1822-1824)tCa>tTa p.S608L 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_uc003lht.1_Missense_Mutation_p.S608L NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 621 Cadherin 6. 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) GCGTGGCTTTCATACGAGCTG 0.677000 86 19 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212631 62212631 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:62212631C>T uc003xuh.3 + 1 569 c.245C>T c.(244-246)gCc>gTc p.A82V CLVS1_uc003xug.2_Missense_Mutation_p.A82V|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 82 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.R81*(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTTCTCCGAGCCAGGAAGTTT 0.458000 25 15 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136729059 136729059 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:136729059C>T uc003eri.2 + 6 1179 c.930C>T c.(928-930)atC>atT p.I310I IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Silent_p.I168I|AX746877_uc003erk.1_5'Flank NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA. 310 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GGGCCTGGATCTCATAGGTTT 0.547000 38 16 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53854211 53854211 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:53854211C>T uc010ydv.1 + 3 400 c.283C>T c.(283-285)Cat>Tat p.H95Y ZNF845_uc010ydw.1_Missense_Mutation_p.H95Y NM_138374 NP_612383 Q96IR2 ZN845_HUMAN Homo sapiens zinc finger protein 845 (ZNF845), mRNA. 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GAAAGATATTCATGATTTTGA 0.403000 46 23 0 0 1 0 0 RORC 6097 broad.mit.edu 37 1 151785433 151785433 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:151785433G>A uc001ezh.3 - 8 1383 c.1275C>T c.(1273-1275)ctC>ctT p.L425L RORC_uc001ezg.3_Silent_p.L404L|RORC_uc010pdo.2_Silent_p.L479L|RORC_uc010pdp.2_Silent_p.L413L NM_005060 NP_005051 P51449 RORG_HUMAN Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA. 425 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGGCATTGATGAGAACAAGGG 0.512000 19 15 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894098 23894098 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:23894098C>T uc001wjx.3 - 21 2665 c.2559G>A c.(2557-2559)aaG>aaA p.K853K NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 853 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGAACTCCTCCTTCATGGAGG 0.552000 44 19 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25457027 25457027 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:25457027G>A uc002wux.1 - 16 2974 c.2900C>T c.(2899-2901)tCg>tTg p.S967L NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN Homo sapiens ninein-like (NINL), mRNA. 967 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding p.S967L(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCCCCTGCACGAAGCGGCCGG 0.687000 10 9 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64520808 64520808 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:64520808C>T uc003jtp.3 - 16 2948 c.2134G>A c.(2134-2136)Gac>Aac p.D712N ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D333N NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 712 D -> G (in Ref. 1; AAD56357). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) GTGCTTCCGTCCCCTCCACAG 0.468000 26 5 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56757077 56757077 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:56757077C>T uc001xch.3 + 4 885 c.599C>T c.(598-600)aCc>aTc p.T200I NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA. 200 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GGGGGCTTCACCGAGGAGTCC 0.592000 72 34 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74936623 74936623 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:74936623C>T uc002jti.3 + 11 1854 c.1751C>T c.(1750-1752)tCc>tTc p.S584F MGAT5B_uc002jth.3_Missense_Mutation_p.S573F NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 575 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.E584D(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGCCCACCTCCAGAGAGGTG 0.627000 90 21 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20048155 20048155 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:20048155G>A uc001umd.3 - 6 502 c.291C>T c.(289-291)ttC>ttT p.F97F TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Silent_p.F60F|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 97 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGCTGTCAGTGAAAATTAGGT 0.303000 36 11 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97983714 97983714 + Silent SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:97983714G>T uc001kls.4 - 5 571 c.393C>A c.(391-393)ccC>ccA p.P131P BLNK_uc001kme.4_Silent_p.P49P|BLNK_uc001klt.4_Silent_p.P45P|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Silent_p.P49P|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Silent_p.P131P|BLNK_uc001kly.4_Silent_p.P131P|BLNK_uc001klz.4_Intron|BLNK_uc001kma.4_Silent_p.P131P|BLNK_uc001kmb.4_Intron|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Silent_p.P49P|BLNK_uc009xvd.3_Intron NM_013314 NP_037446 Q8WV28 BLNK_HUMAN Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA. 131 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TCTTGCTGAAGGGTGGGGAAT 0.507000 54 14 1.99824e-07 2.01478e-07 1 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51919293 51919293 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:51919293G>T uc002pwo.3 - 4 1105 c.883C>A c.(883-885)Ctc>Atc p.L295I SIGLEC10_uc002pwp.3_Missense_Mutation_p.L237I|SIGLEC10_uc021uyl.1_Missense_Mutation_p.L212I|SIGLEC10_uc002pwq.3_Missense_Mutation_p.L237I|SIGLEC10_uc010ycz.2_Missense_Mutation_p.L247I|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.L295I|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.L107I|LOC100129083_uc021uym.1_Non-coding_Transcript NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 295 Ig-like C2-type 2. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GACGAGGAGAGGACTCTGTTC 0.657000 12 6 0.0215528 0.0215705 1 1 0 COL5A3 50509 broad.mit.edu 37 19 10071469 10071469 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:10071469G>A uc002mmq.1 - 65 5035 c.4949C>T c.(4948-4950)tCc>tTc p.S1650F NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1650 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.Y1649*(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ATTCTGGCAGGAGTAGGTGAA 0.592000 38 20 0 0 1 0 0 C15orf44 81556 broad.mit.edu 37 15 65892171 65892171 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:65892171G>A uc010uix.2 - 3 923 c.535C>T c.(535-537)Cca>Tca p.P179S C15orf44_uc002apd.3_Missense_Mutation_p.P143S|C15orf44_uc010uja.2_Missense_Mutation_p.P126S|C15orf44_uc010ujb.2_Missense_Mutation_p.P86S|C15orf44_uc002ape.4_Missense_Mutation_p.P143S|C15orf44_uc010uiy.2_Missense_Mutation_p.P64S|C15orf44_uc010uiz.2_Missense_Mutation_p.P107S|C15orf44_uc010ujc.2_Missense_Mutation_p.P175S Q96SY0 CO044_HUMAN Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA. 143 VWFA. breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AAAGGTAGTGGAAACCTGTTG 0.433000 49 11 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303337 151303337 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:151303337C>T uc022cgz.1 - 0 756 c.756G>A c.(754-756)atG>atA p.M252I MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.M252I|MAGEA10_uc004ffm.2_Missense_Mutation_p.M252I|MAGEA10_uc004ffl.3_Missense_Mutation_p.M252I NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 252 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACAGCCCCATCATATTCAGTG 0.522000 33 51 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090225 238090225 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:238090225C>T uc010pyc.2 + 11 c.1731C>T Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA. GCTGTGTTTCCCTCCATCATT 0.597000 6 5 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50553569 50553569 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:50553569G>A uc003bjj.3 + 7 1236 c.1153G>A c.(1153-1155)Gga>Aga p.G385R MOV10L1_uc003bjk.4_Missense_Mutation_p.G385R|MOV10L1_uc011arp.2_Missense_Mutation_p.G365R|MOV10L1_uc011arq.1_Missense_Mutation_p.G146R|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 385 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGGAGAAAATGGAGAAAAAGA 0.423000 168 28 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66972137 66972137 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:66972137C>T uc002eqr.3 + 1 1466 c.466C>T c.(466-468)Ccg>Tcg p.P156S CES2_uc002eqq.3_Missense_Mutation_p.P156S|CES2_uc002eqs.3_5'UTR NM_003869 NP_003860 O00748 EST2_HUMAN Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA. 92 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) AACCACCCATCCGGCCATGTA 0.592000 20 8 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44806847 44806847 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:44806847C>T uc001ztr.3 + 8 1437 c.1021C>T c.(1021-1023)Cag>Tag p.Q341* CTDSPL2_uc001zts.3_Nonsense_Mutation_p.Q341*|CTDSPL2_uc001ztt.3_Nonsense_Mutation_p.Q341*|CTDSPL2_uc010bdv.3_Nonsense_Mutation_p.Q269* NM_016396 NP_057480 Q05D32 CTSL2_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 (CTDSPL2), mRNA. 341 FCP1 homology. phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) ACGAATGTCTCAGATGTATGA 0.289000 53 15 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70667669 70667669 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:70667669C>T uc003xyl.3 - 3 1955 c.1248G>A c.(1246-1248)aaG>aaA p.K416K SLCO5A1_uc010lzb.3_Silent_p.K416K|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.K416K|SLCO5A1_uc010lzc.2_Silent_p.K416K NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 416 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CTCTGACATCCTTTCCAAATC 0.418000 24 7 0 0 1 0 0 SEMA3A 10371 broad.mit.edu 37 7 83643665 83643665 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:83643665G>A uc003uhz.3 - 6 985 c.670C>T c.(670-672)Cca>Tca p.P224S NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 224 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATGAACTTTGGATCTGAGAGA 0.323000 21 17 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67289062 67289062 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:67289062C>T uc002esm.3 + 2 692 c.629C>T c.(628-630)tCc>tTc p.S210F SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 210 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TTTGGCGAGTCCCTGCTCAAC 0.587000 17 38 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11298537 11298537 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:11298537G>A uc001asd.3 - 11 2045 c.1924C>T c.(1924-1926)Cat>Tat p.H642Y NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 642 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTAACCACATGAGCATGGCCA 0.562000 66 14 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58206708 58206708 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:58206708C>T uc001vhq.1 + 0 920 c.28C>T c.(28-30)Ctt>Ttt p.L10F PCDH17_uc010aec.1_Missense_Mutation_p.L10F NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TTGCTGCTTTCTTCTATGGGC 0.622000 14 11 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29773697 29773697 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:29773697G>A uc001iut.1 - 26 5596 c.4843C>T c.(4843-4845)Caa>Taa p.Q1615* LOC387647_uc001iup.3_Non-coding_Transcript|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Nonsense_Mutation_p.Q529*|SVIL_uc001iuu.1_Nonsense_Mutation_p.Q1189*|SVIL_uc009xlc.2_Nonsense_Mutation_p.Q407* NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1615 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ATTTTTCGTTGTGCTAATGTG 0.408000 12 8 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45776851 45776851 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:45776851C>T uc003cos.2 + 13 1429 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* SACM1L_uc011bag.1_Nonsense_Mutation_p.Q306*|SACM1L_uc011bah.1_Nonsense_Mutation_p.Q343*|SACM1L_uc003cot.2_Nonsense_Mutation_p.Q52* NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA. 409 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) TCGTTCACTTCAGGCCCAACT 0.388000 57 14 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30227868 30227868 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:30227868G>A uc002wwj.1 + 2 290 c.215G>A c.(214-216)tGg>tAg p.W72* NM_032609 NP_115998 Q96KJ9 COX42_HUMAN Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA. 72 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) AAGGGAAGCTGGACCCAGCTG 0.592000 20 13 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574249 140574249 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140574249C>T uc003lix.3 + 0 2298 c.2124C>T c.(2122-2124)ctC>ctT p.L708L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. 708 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTCGGTGCTCCTGTTCGTGG 0.697000 94 52 0 0 1 0 0 SNAI1 6615 broad.mit.edu 37 20 48600845 48600845 + Missense_Mutation SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:48600845C>G uc002xuz.3 + 1 651 c.567C>G c.(565-567)ttC>ttG p.F189L NM_005985 NP_005976 O95863 SNAI1_HUMAN Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA. 189 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding p.A188S(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GGAAGGCCTTCTCTAGGCCCT 0.607000 11 5 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34640749 34640749 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:34640749C>T uc010ucc.2 + 2 1062 c.680C>T c.(679-681)tCc>tTc p.S227F C15orf55_uc010ucd.2_Missense_Mutation_p.S217F|C15orf55_uc001zif.3_Missense_Mutation_p.S199F NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 199 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TCCAAGCCTTCCCTAGGTGAC 0.567000 T """BRD3, BRD4""" lethal midline carcinoma 48 10 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161029190 161029190 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:161029190C>T uc002ubh.2 - 5 826 c.811G>A c.(811-813)Gat>Aat p.D271N ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.D271N|ITGB6_uc010zcq.1_Missense_Mutation_p.D229N|ITGB6_uc010fov.1_Missense_Mutation_p.D271N NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 271 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 GAATCAGCATCACTCACAAAG 0.463000 71 24 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172607438 172607438 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:172607438G>A uc003fin.4 - 10 1816 c.1632C>T c.(1630-1632)ttC>ttT p.F544F NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 544 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TAGTTTTTAAGAAACTGTCCT 0.358000 46 19 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154626295 154626295 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:154626295C>T uc003inq.3 + 2 2455 c.2236C>T c.(2236-2238)Ccc>Tcc p.P746S TLR2_uc003inr.3_Missense_Mutation_p.P746S|TLR2_uc003ins.3_Missense_Mutation_p.P746S|TLR2_uc021xtl.1_Missense_Mutation_p.P746S NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 746 TIR. I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) AAAAGCCATTCCCCAGCGCTT 0.488000 62 24 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172766857 172766857 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:172766857C>T uc003fin.4 - 2 824 c.640G>A c.(640-642)Gaa>Aaa p.E214K NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. 214 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TCAAATGGTTCTCCCAGAACT 0.353000 24 6 0 0 1 0 0 ANP32A 8125 broad.mit.edu 37 15 69079845 69079845 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:69079845C>T uc002arl.3 - 2 405 c.234G>A c.(232-234)ggG>ggA p.G78G NM_006305 NP_006296 P39687 AN32A_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A (ANP32A), mRNA. 78 intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 CTTCCAGGCCCCCTGAGACTC 0.453000 45 38 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33602313 33602313 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:33602313G>A uc021wvc.1 - 27 3152 c.2941C>T c.(2941-2943)Ctt>Ttt p.L981F CLASP2_uc003cfs.3_Missense_Mutation_p.L180F|CLASP2_uc021wva.1_Missense_Mutation_p.L55F|CLASP2_uc021wvb.1_Missense_Mutation_p.L760F|CLASP2_uc011axt.1_Missense_Mutation_p.L573F NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA. 982 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 GTAACATCAAGGGCTTTCTGA 0.348000 74 28 0 0 1 0 0 STX6 10228 broad.mit.edu 37 1 180959154 180959154 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:180959154G>T uc021pfr.1 - 4 692 c.455C>A c.(454-456)tCt>tAt p.S152Y STX6_uc010pnr.2_Missense_Mutation_p.S51Y NM_005819 NP_005810 O43752 STX6_HUMAN Homo sapiens syntaxin 6 (STX6), mRNA. 152 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 AATGAAATGAGAATTGGCTCT 0.557000 75 29 3.73148e-12 3.78117e-12 1 1 0 UTS2 10911 broad.mit.edu 37 1 7907921 7907921 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:7907921C>T uc001aos.3 - 4 399 c.325G>A c.(325-327)Gat>Aat p.D109N UTS2_uc001aoq.3_Missense_Mutation_p.D94N|UTS2_uc001aor.3_Missense_Mutation_p.D94N NM_021995 NP_068835 O95399 UTS2_HUMAN Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA. 94 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity kidney(1)|lung(4)|urinary_tract(1) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;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;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) ATGTTAGGATCTTGTCCAGAG 0.368000 39 28 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67109305 67109306 + Missense_Mutation DNP TT AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:67109305_67109306TT>AA uc001dcr.3 + 6 579_580 c.362_363TT>AA c.(361-363)att>aAA p.I121K SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_5'UTR|SGIP1_uc001dct.3_5'UTR NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA. 121 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex SH3 domain binding|microtubule binding|phospholipid binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AATATCAAGATTAAACCATTGC 0.356000 45 40 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102984267 102984267 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:102984267G>A uc003hvy.4 + 12 2458 c.2184G>A c.(2182-2184)ggG>ggA p.G728G BANK1_uc003hvx.4_Silent_p.G713G|BANK1_uc010ill.3_Silent_p.G595G|BANK1_uc003hvz.4_Silent_p.G698G NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 728 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GCATTATTGGGAAAAGGCCAG 0.338000 16 13 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906159 906159 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:906159G>A uc001ace.3 + 4 540 c.505G>A c.(505-507)Gcc>Acc p.A169T PLEKHN1_uc001acd.3_Intron|PLEKHN1_uc001acf.3_Intron NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 169 PH 1. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TGCTTCCCGGGCCCCCAGAGG 0.667000 29 35 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7528464 7528464 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7528464C>T uc010sge.2 - 9 2574 c.2548G>A c.(2548-2550)Gat>Aat p.D850N CD163L1_uc001qsy.3_Missense_Mutation_p.D840N NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 840 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GATATGGCATCTCCACAGTTT 0.453000 37 18 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39315915 39315915 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:39315915C>T uc003jlv.4 - 5 921 c.832G>A c.(832-834)Gaa>Aaa p.E278K NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 278 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGGTAAGTTTCATTTTTGGAA 0.338000 17 6 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113170187 113170187 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:113170187C>T uc010mtz.3 - 37 8030 c.7693G>A c.(7693-7695)Ggt>Agt p.G2565S SVEP1_uc010mty.3_Missense_Mutation_p.G491S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 2565 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTACAAAACCATTTTCAATG 0.488000 27 19 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493650 60493650 + Missense_Mutation SNP G A A rs146706371 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:60493650G>A uc010wpc.2 + 11 1504 c.1433G>A c.(1432-1434)aGa>aAa p.R478K EFCAB3_uc002izu.2_Missense_Mutation_p.R426K NM_001144933 NP_001138405 Q8N7B9 EFCB3_HUMAN Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA. 426 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GACTCAGGAAGAAAAAGAAAA 0.333000 81 38 0 0 1 0 0 MAP2K4 6416 broad.mit.edu 37 17 12011195 12011195 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:12011195C>T uc002gnj.3 + 4 671 c.602C>T c.(601-603)cCa>cTa p.P201L MAP2K4_uc002gnk.3_Missense_Mutation_p.P212L|MAP2K4_uc010vvi.2_Missense_Mutation_p.P83L|MAP2K4_uc010vvj.2_Missense_Mutation_p.P73L NM_003010 NP_003001 P45985 MP2K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA. 201 Protein kinase. JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GATGTTATTCCAGAAGAAATT 0.308000 """D, Mis, N""" """pancreatic, breast, colorectal""" 64 18 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114473274 114473274 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:114473274A>T uc003kqs.3 - 5 1416 c.907T>A c.(907-909)Ttt>Att p.F303I TRIM36_uc011cwc.2_Missense_Mutation_p.F291I|TRIM36_uc003kqt.3_Missense_Mutation_p.F148I NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA. 303 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGCTTTTCAAAATGTGTAATT 0.333000 59 29 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118347 118347 + RNA SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrGL000205.1:118347A>G uc002kgk.4 + 0 c.1725A>G Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGACTTCTGCAGCCAGGGAAG 0.542000 57 6 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130454764 130454764 + Silent SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:130454764A>G uc003enj.3 - 2 1397 c.816T>C c.(814-816)ttT>ttC p.F272F NM_014602 NP_055417 Q99570 PI3R4_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA. 272 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GTTCAGGGAAAAAATGTCCAT 0.328000 49 13 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230795218 230795218 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:230795218C>T uc001htw.3 + 1 232 c.81C>T c.(79-81)ttC>ttT p.F27F COG2_uc001htx.3_Silent_p.F27F|COG2_uc010pwc.2_5'UTR NM_007357 NP_031383 Q14746 COG2_HUMAN Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA. 27 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity p.F27F(2) NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AGGAAGATTTCGATGTCGATC 0.378000 19 24 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86008671 86008671 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:86008671C>T uc001kdd.1 + 2 280 c.242C>T c.(241-243)tCc>tTc p.S81F RGR_uc001kdb.1_Silent_p.L64L|RGR_uc001kdc.1_Intron|RGR_uc001kde.1_Intron NM_002921 NP_002912 P47804 RGR_HUMAN Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA. 79 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CCCAGTGTCTCCCACAGGCGC 0.617000 39 14 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23226058 23226058 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:23226058T>A uc002dlm.1 + 11 1658 c.1519T>A c.(1519-1521)Ttc>Atc p.F507I NM_001039 NP_001030 P51170 SCNNG_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA. 507 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane WW domain binding|ligand-gated sodium channel activity NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ACTCTTGATATTCTACAAAGA 0.502000 27 6 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176915099 176915099 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:176915099C>T uc001glc.3 - 12 2424 c.2212G>A c.(2212-2214)Gaa>Aaa p.E738K ASTN1_uc001glb.1_Missense_Mutation_p.E738K|ASTN1_uc001gld.1_Missense_Mutation_p.E738K|ASTN1_uc009wwx.1_Missense_Mutation_p.E738K NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 746 cell migration|neuron cell-cell adhesion integral to membrane p.K737K(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCAGCCACTTCCTTGGAATGG 0.473000 78 56 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133434 22133434 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:22133434C>T uc010tmd.2 + 0 138 c.138C>T c.(136-138)atC>atT p.I46I NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TTCTCATCATCATTGCCACAG 0.443000 42 70 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21147271 21147271 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:21147271C>T uc001iqi.3 - 8 1198 c.801G>A c.(799-801)gtG>gtA p.V267V NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 267 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCTTGTACTTCACCTATGAAA 0.323000 17 8 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517435 158517435 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158517435C>T uc010pil.2 - 0 461 c.461G>A c.(460-462)tGg>tAg p.W154* NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA. 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C153*(1) NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCCACAGAACCAGCATCCTCC 0.463000 35 4 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150065677 150065677 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:150065677C>T uc001etp.3 + 12 1999 c.1426C>T c.(1426-1428)Cat>Tat p.H476Y VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Missense_Mutation_p.H440Y|VPS45_uc010pbs.2_Missense_Mutation_p.H371Y|VPS45_uc001etq.3_Missense_Mutation_p.H296Y|VPS45_uc009wlm.1_Missense_Mutation_p.H452Y NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA. 476 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis Golgi membrane|endosome membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AACCCTGGATCATCTCATCAA 0.378000 53 11 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41710048 41710048 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:41710048C>T uc002yyq.1 - 7 2215 c.1763G>A c.(1762-1764)aGc>aAc p.S588N 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. 588 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding 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) CACGTGGACGCTCTGGCTGGT 0.502000 61 35 0 0 1 0 0 L32131 0 broad.mit.edu 37 17 58511324 58511324 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:58511324C>T uc002iyr.1 - 0 c.2034G>A Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12. TCTGGTGGTTCCTTGAGGGCT 0.483000 30 9 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13183421 13183421 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:13183421G>A uc010mia.1 - 17 2702 c.2645C>T c.(2644-2646)cCt>cTt p.P882L MPDZ_uc010mhz.3_Missense_Mutation_p.P882L|MPDZ_uc011lmn.2_Missense_Mutation_p.P882L|MPDZ_uc010mhy.3_Missense_Mutation_p.P882L|MPDZ_uc003zlb.4_Missense_Mutation_p.P882L NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 882 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TTGTACCTTAGGAGGAGATGA 0.403000 4 3 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105795390 105795390 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:105795390G>A uc001pix.2 + 11 2188 c.1742G>A c.(1741-1743)gGa>gAa p.G581E GRIA4_uc001piw.2_Missense_Mutation_p.G581E NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 581 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CCAGAGGACGGAAAGGAAGGA 0.478000 27 13 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102649403 102649403 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:102649403C>T uc001phg.2 - 3 611 c.574G>A c.(574-576)Gga>Aga p.G192R NM_002425 NP_002416 P09238 MMP10_HUMAN Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. 192 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TGAATATCTCCATAAAGCCCA 0.443000 24 12 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41201694 41201694 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:41201694G>A uc003jmk.2 - 2 476 c.266C>T c.(265-267)cCa>cTa p.P89L C6_uc003jml.1_Missense_Mutation_p.P89L NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 89 TSP type-1 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GTCTGACCATGGTCCAAAATC 0.463000 12 34 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158165122 158165122 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:158165122G>A uc002tzg.3 + 8 2819 c.2564G>A c.(2563-2565)gGa>gAa p.G855E GALNT5_uc010zci.2_Non-coding_Transcript NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA. 855 Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 ATTAAATGTGGAGAATGGTGT 0.433000 119 61 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39664106 39664106 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:39664106G>A uc002rro.3 - 0 114 c.23C>T c.(22-24)tCc>tTc p.S8F MAP4K3_uc002rrp.3_Missense_Mutation_p.S8F|LOC728730_uc002rrq.3_Intron|LOC728730_uc002rrr.1_5'Flank NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA. 8 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GTTCCGGCGGGACAAATCGAA 0.726000 17 8 0 0 1 0 0 TP53RK 112858 broad.mit.edu 37 20 45315729 45315729 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:45315729A>G uc002xsk.3 - 1 648 c.425T>C c.(424-426)tTa>tCa p.L142S SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR NM_033550 NP_291028 Q96S44 PRPK_HUMAN Homo sapiens TP53 regulating kinase (TP53RK), mRNA. 142 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity kidney(1)|large_intestine(1)|lung(4)|skin(1) 7 Myeloproliferative disorder(115;0.0122) TGTCTTGGCTAAGTTGGAGAG 0.463000 131 34 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113166749 113166749 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:113166749G>A uc010mtz.3 - 38 9861 c.9524C>T c.(9523-9525)tCc>tTc p.S3175F SVEP1_uc010mty.3_Missense_Mutation_p.S1101F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 3175 Sushi 29. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGACTGCAGGAGATTCTCTC 0.428000 118 88 0 0 1 0 0 ZNF260 339324 broad.mit.edu 37 19 37006034 37006034 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:37006034A>T uc002oee.2 - 3 1029 c.107T>A c.(106-108)tTt>tAt p.F36Y ZNF260_uc010eey.2_Missense_Mutation_p.F36Y|ZNF260_uc002oef.2_Missense_Mutation_p.F36Y|ZNF260_uc002oed.2_Missense_Mutation_p.F36Y|ZNF260_uc021uti.1_Missense_Mutation_p.F36Y NM_001012756 NP_001159510 Q3ZCT1 ZN260_HUMAN Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA. 36 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) CTTCAGGCTAAAAGTTTTTCT 0.383000 36 9 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43197399 43197399 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:43197399G>A uc003xpz.1 + 10 1331 c.1288G>A c.(1288-1290)Gat>Aat p.D430N POTEA_uc003xqa.1_Missense_Mutation_p.D384N NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA. 430 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGCGTCAGAGGATTATGATTT 0.358000 32 11 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74873735 74873735 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:74873735G>A uc001owb.3 + 1 447 c.52G>A c.(52-54)Gaa>Aaa p.E18K SLCO2B1_uc010rrp.1_Non-coding_Transcript|SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Intron|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_5'UTR NM_007256 NP_001138683 O94956 SO2B1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA. 18 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) ACCAGACAAGGAAACCAAAGC 0.542000 99 58 0 0 1 0 0 KRT4 3851 broad.mit.edu 37 12 53205639 53205639 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:53205639C>T uc001saz.3 - 1 807 c.807G>A c.(805-807)ctG>ctA p.L269L NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN Homo sapiens keratin 4 (KRT4), mRNA. 195 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 GCTGCTTCCTCAGGACACTGA 0.537000 30 24 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46594906 46594906 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:46594906G>A uc009zkj.1 - 12 1663 c.978C>T c.(976-978)gcC>gcT p.A326A SLC38A1_uc001rpb.3_Silent_p.A326A|SLC38A1_uc001rpc.3_Silent_p.A326A|SLC38A1_uc001rpd.3_Silent_p.A326A|SLC38A1_uc001rpe.3_Silent_p.A326A|SLC38A1_uc010slh.2_Silent_p.A299A|SLC38A1_uc001rpa.3_Silent_p.A326A NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 326 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AGCCAAAAATGGCAGTCAAGA 0.274000 18 10 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19175507 19175507 + Missense_Mutation SNP C T T rs1137474 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:19175507C>T uc021wle.1 - 27 4495 c.4420G>A c.(4420-4422)Gag>Aag p.E1474K CLTCL1_uc021wld.1_3'UTR|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Missense_Mutation_p.E1474K|CLTCL1_uc011agw.1_Missense_Mutation_p.E1453K|CLTCL1_uc011agt.2_Missense_Mutation_p.E265K|CLTCL1_uc011agu.2_Intron NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 1474 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. E -> K (in Ref. 3; AAB40908/AAB40909). anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity p.E1473Q(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TAGTCCTCCTCCTCTGTCAGC 0.587000 T ? ALCL 78 69 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953661 8953661 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:8953661G>A uc002mko.2 + 0 393 c.307G>A c.(307-309)Gga>Aga p.G103R NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA. 103 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 TTACACAGGTGGATCTCTGCT 0.537000 17 7 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38078583 38078583 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:38078583C>T uc001cbl.2 - 7 1528 c.636G>A c.(634-636)agG>agA p.R212R RSPO1_uc009vvf.2_Silent_p.R185R|RSPO1_uc001cbm.2_Silent_p.R212R|RSPO1_uc009vvg.2_Silent_p.R149R NM_001038633 NP_001229837 Q2MKA7 RSPO1_HUMAN Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA. 212 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTCCCTTCCTCCTCTTCTGCC 0.622000 41 22 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799487 5799487 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5799487G>A uc010qzn.2 - 0 411 c.378C>T c.(376-378)ctC>ctT p.L126L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA. 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L126R(1) endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CTAGAGCCATGAGCATGAGCA 0.488000 27 26 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62265727 62265727 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:62265727G>A uc002jed.3 - 4 2397 c.2246C>T c.(2245-2247)aCc>aTc p.T749I TEX2_uc002jec.3_Missense_Mutation_p.T742I|TEX2_uc002jee.3_Missense_Mutation_p.T742I NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN Homo sapiens testis expressed 2 (TEX2), mRNA. 742 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GCGGCTGTGGGTCAGGTGCCC 0.567000 92 15 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124053173 124053173 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:124053173C>T uc003ehg.3 + 8 1599 c.1472C>T c.(1471-1473)tCc>tTc p.S491F KALRN_uc010hrv.1_Missense_Mutation_p.S491F|KALRN_uc003ehf.1_Missense_Mutation_p.S491F|KALRN_uc011bjy.1_Missense_Mutation_p.S491F NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 491 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTGGGAACTCCGAATCCCTC 0.567000 87 32 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22414132 22414132 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:22414132G>A uc001yuf.3 + 0 671 c.431G>A c.(430-432)cGc>cAc p.R144H abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. ATTCTTTGTCGCATACGAGCG 0.463000 70 22 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132071618 132071618 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:132071618C>T uc010htp.2 + 8 1009 c.919C>T c.(919-921)Ctt>Ttt p.L307F ACPP_uc003eon.3_Missense_Mutation_p.L274F|ACPP_uc003eop.4_Missense_Mutation_p.L307F NM_001099 NP_001090 P15309 PPAP_HUMAN Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA. 307 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 CAACGGACTCCTTCCTCCCTA 0.433000 37 15 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136338637 136338637 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:136338637G>A uc004cee.3 - 7 1217 c.1122C>T c.(1120-1122)ggC>ggT p.G374G SLC2A6_uc004cef.3_Intron|SLC2A6_uc004ceg.3_Silent_p.G351G NM_017585 NP_060055 Q9UGQ3 GTR6_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA. 374 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CGCTTTCCAGGCCCGCAGTGC 0.647000 9 11 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102198024 102198024 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:102198024G>A uc002bxm.3 - 16 2164 c.2109C>T c.(2107-2109)atC>atT p.I703I TARSL2_uc002bxl.3_Intron|TARSL2_uc010usi.2_Non-coding_Transcript NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA. 703 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCCCACAGGGATGACCATCA 0.343000 15 5 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99519711 99519711 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:99519711G>A uc001vnt.2 - 29 3312 c.3257C>T c.(3256-3258)cCa>cTa p.P1086L DOCK9_uc001vnw.2_Missense_Mutation_p.P1085L|DOCK9_uc021rlw.1_Missense_Mutation_p.P1085L|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.P1086L|DOCK9_uc010tis.1_Missense_Mutation_p.P1085L|DOCK9_uc010tit.1_Missense_Mutation_p.P1086L|DOCK9_uc010tiq.1_Missense_Mutation_p.P50L|DOCK9_uc010afu.1_Missense_Mutation_p.P932L NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA. 1086 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTTTCCAAATGGCATTGGTAA 0.343000 23 29 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119415 3119415 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:3119415C>A uc010vrc.2 + 0 501 c.501C>A c.(499-501)tcC>tcA p.S167S NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA. 167 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 CTAGTCTGTCCTTCTGTGGCA 0.488000 16 46 4.21674e-32 4.30333e-32 1 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1715107 1715107 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:1715107C>T uc010uvh.2 + 12 2720 c.2720C>T c.(2719-2721)tCc>tTc p.S907F CRAMP1L_uc002cmf.3_Non-coding_Transcript NM_020825 NP_065876 Q96RY5 CRML_HUMAN Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA. 907 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 AACGTTTGTTCCTTCTCCATC 0.498000 26 7 0 0 1 0 0 GSDMD 79792 broad.mit.edu 37 8 144645035 144645035 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:144645035C>T uc003yyf.3 + 11 1603 c.1560C>T c.(1558-1560)tcC>tcT p.S520S GSDMD_uc010mfe.3_Silent_p.S472S|GSDMD_uc003yyg.3_Silent_p.S472S|GSDMD_uc003yyh.3_Silent_p.S403S NM_024736 NP_079012 P57764 GSDMD_HUMAN Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA. 472 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 TCTACGCCTCCCTGGCACTGC 0.672000 26 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766229 13766229 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13766229G>A uc003jfd.2 - 58 9999 c.9957C>T c.(9955-9957)atC>atT p.I3319I DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3319 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) TGATCCGCATGATGAGGTGAG 0.532000 Kartagener syndrome 106 25 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82445571 82445571 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:82445571G>A uc001dit.4 + 16 3170 c.2989G>A c.(2989-2991)Gtg>Atg p.V997M LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.V997M|LPHN2_uc001div.3_Missense_Mutation_p.V997M|LPHN2_uc009wcd.3_Missense_Mutation_p.V997M|LPHN2_uc001diw.3_Missense_Mutation_p.V581M|LPHN2_uc009wce.1_Missense_Mutation_p.V83M NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 1010 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TATCTTCTTGGTGATCACATT 0.299000 15 9 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24922244 24922244 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:24922244C>T uc001ywo.3 + 0 1704 c.1230C>T c.(1228-1230)tcC>tcT p.S410S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 410 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCACAGACTCCCTGCCCCTGA 0.557000 44 28 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300842 62300842 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:62300842G>A uc001ntl.3 - 4 1347 c.1047C>T c.(1045-1047)atC>atT p.I349I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 349 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GAGGGGCTTGGATAGTCAAGC 0.597000 39 31 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45473543 45473543 + Missense_Mutation SNP C T T rs141013517 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:45473543C>T uc001wvw.3 + 3 2827 c.2618C>T c.(2617-2619)tCg>tTg p.S873L FAM179B_uc001wvv.3_Missense_Mutation_p.S873L|FAM179B_uc010anc.3_Non-coding_Transcript|FAM179B_uc001wvu.3_Missense_Mutation_p.S873L NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 873 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AGCCAAAAATCGTCTGATCCT 0.358000 23 14 0 0 1 0 0 IGJ 3512 broad.mit.edu 37 4 71522180 71522180 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:71522180C>T uc010ihz.3 - 4 535 c.394G>A c.(394-396)Gaa>Aaa p.E132K IGJ_uc003hfn.4_Missense_Mutation_p.E116K NM_144646 NP_653247 P01591 IGJ_HUMAN Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA. 116 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) GCACTGTCTTCATCACAGATA 0.418000 40 15 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581130 7581130 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:7581130G>A uc003mxp.1 + 22 4986 c.4707G>A c.(4705-4707)caG>caA p.Q1569Q DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1569 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCAGCTGCAGAAGCAGAAGG 0.547000 62 49 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25839938 25839938 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:25839938C>T uc001isj.3 + 5 1498 c.1438C>T c.(1438-1440)Cgc>Tgc p.R480C NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 480 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 AAGCACATTTCGCTGTATTCT 0.413000 58 21 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52833931 52833931 + Nonsense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52833931A>T uc003dfv.2 + 8 1105 c.1069A>T c.(1069-1071)Aaa>Taa p.K357* ITIH3_uc011bek.1_Nonsense_Mutation_p.K357* NM_002217 NP_002208 Q06033 ITIH3_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA. 357 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CATGGAGGATAAAGGAAGTAA 0.587000 26 4 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524464 112524464 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:112524464G>A uc001ebu.1 - 1 1365 c.885C>T c.(883-885)ttC>ttT p.F295F KCND3_uc001ebv.1_Silent_p.F295F NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 295 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TGAAGATCCTGAAGACGCGGA 0.592000 30 9 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132534888 132534888 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:132534888C>T uc001ujn.3 + 39 7373 c.7221C>T c.(7219-7221)ctC>ctT p.L2407L EP400_uc021rgq.1_Silent_p.L2406L|EP400_uc001ujm.3_Silent_p.L2326L NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2443 Myb-like. 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) ACCGTCCTCTCCGTACGAGCC 0.517000 47 11 0 0 1 0 0 SIRT2 22933 broad.mit.edu 37 19 39384160 39384160 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:39384160G>A uc002ojt.2 - 3 461 c.120C>T c.(118-120)ttC>ttT p.F40F SIRT2_uc010egi.2_Silent_p.F3F|SIRT2_uc002ojs.2_Silent_p.F20F|SIRT2_uc002oju.2_Silent_p.F3F|SIRT2_uc010egh.2_Silent_p.F3F|SIRT2_uc002ojv.2_Silent_p.F40F NM_012237 NP_085096 Q8IXJ6 SIRT2_HUMAN Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. 40 cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) AGTTCCGCAGGAAGTCCACTG 0.647000 5 4 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61392013 61392013 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:61392013C>T uc002jal.4 + 7 1225 c.1202C>T c.(1201-1203)cCa>cTa p.P401L TANC2_uc010wpe.2_Missense_Mutation_p.P311L NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 401 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TCAGACAGCCCACATGCCTCC 0.458000 180 28 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 280862 280863 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:280862_280863GG>AA uc010qvs.2 + 3 1128_1129 c.1128_1129GG>AA c.(1126-1131)aaggag>aaAAag p.E377K NLRP6_uc010qvt.2_Missense_Mutation_p.E377K NM_138329 NP_612202 P59044 NALP6_HUMAN Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA. 377 NACHT. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GCTTCGTGAAGGAGAACGAGAC 0.624000 94 15 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77400934 77400934 + Silent SNP G A A rs149732972 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:77400934G>A uc004ajl.1 - 20 3013 c.2775C>T c.(2773-2775)ttC>ttT p.F925F TRPM6_uc004ajk.1_Silent_p.F920F|TRPM6_uc022bib.1_Silent_p.F920F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 925 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATCGAAGGACGAAGCCAGCTG 0.478000 66 28 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178417606 178417606 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:178417606C>T uc003mjr.3 - 3 1178 c.999G>A c.(997-999)agG>agA p.R333R GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 333 detection of visible light|visual perception integral to plasma membrane 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) CGATGGAGGCCCTTTTGGGCA 0.612000 18 12 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127738224 127738224 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:127738224G>A uc001ljk.2 - 14 2046 c.1633C>T c.(1633-1635)Cct>Tct p.P545S ADAM12_uc010qul.1_Missense_Mutation_p.P496S|ADAM12_uc001ljm.3_Missense_Mutation_p.P545S|ADAM12_uc001ljn.3_Missense_Mutation_p.P542S|ADAM12_uc001ljl.4_Missense_Mutation_p.P542S NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 545 Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CAGATCCCAGGGGCAGGTTTA 0.468000 33 27 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104056731 104056731 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:104056731G>A uc001tjw.3 + 17 2163 c.1977G>A c.(1975-1977)ccG>ccA p.P659P NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 659 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.P659Q(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCATTGTCCCGATTCTGCCCC 0.453000 39 40 0 0 1 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39411728 39411728 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:39411728C>T uc003awr.3 + 1 249 c.146C>T c.(145-147)tCc>tTc p.S49F NM_014508 NP_055323 Q9NRW3 ABC3C_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA. 49 DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) TCAGTTGTCTCCTGGAAGACG 0.478000 79 37 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40705455 40705455 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:40705455C>T uc001cfc.4 + 7 5112 c.5081C>T c.(5080-5082)cCt>cTt p.P1694L RLF_uc001cfd.4_Missense_Mutation_p.P1385L NM_012421 NP_036553 Q13129 RLF_HUMAN Homo sapiens rearranged L-myc fusion (RLF), mRNA. 1694 DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CCTCCTCCTCCTTGTAAAATA 0.393000 76 13 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9510431 9510431 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:9510431C>T uc002wni.2 + 5 1302 c.807C>T c.(805-807)atC>atT p.I269I LAMP5_uc010zrc.2_Silent_p.I225I NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 269 integral to membrane AGGTGCAGATCCCTCGGGACA 0.547000 21 32 0 0 1 0 0 NOMO3 408050 broad.mit.edu 37 16 16357074 16357074 + Splice_Site SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:16357074T>G uc002dep.3 + 13 1672 c.1537_splice c.e13+2 p.D513_splice NOMO3_uc010bvp.2_Splice_Site_p.D346_splice|NOMO3_uc002deq.3_Splice_Site_p.D513_splice NM_001004067 NP_001004067 P69849 NOMO3_HUMAN Homo sapiens NODAL modulator 3 (NOMO3), mRNA. 513 integral to membrane carbohydrate binding|carboxypeptidase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 8 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CTTGTTTGGGTAAGATATCAC 0.438000 61 47 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125072843 125072843 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:125072843C>T uc003yqw.3 + 23 3246 c.3040C>T c.(3040-3042)Cgg>Tgg p.R1014W AK057332_uc003yqy.1_Non-coding_Transcript NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1014 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) CTCTGTGGATCGGCCTCAGGC 0.547000 22 20 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41271057 41271057 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:41271057C>T uc002ooz.3 + 5 1389 c.834C>T c.(832-834)tcC>tcT p.S278S NM_004596 NP_004587 P09012 SNRPA_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. 278 RRM 2. nucleoplasm|spliceosomal complex RNA binding|nucleotide binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGAAGATCTCCTTTGCCAAGA 0.587000 15 3 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43712768 43712768 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:43712768G>A uc001zrs.3 - 20 4549 c.4401C>T c.(4399-4401)ttC>ttT p.F1467F TP53BP1_uc010udp.2_Silent_p.F1467F|TP53BP1_uc001zrq.4_Silent_p.F1472F|TP53BP1_uc001zrr.4_Silent_p.F1472F|TP53BP1_uc010udq.1_Silent_p.F1472F NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 1467 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CAGCAGCCTGGAAAGGAATTT 0.547000 Other conserved DNA damage response genes 72 33 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844642 5844642 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:5844642C>T uc002mdk.2 - 1 306 c.209G>A c.(208-210)tGg>tAg p.W70* FUT3_uc002mdm.2_Nonsense_Mutation_p.W70*|FUT3_uc002mdj.2_Nonsense_Mutation_p.W70*|FUT3_uc002mdl.2_Nonsense_Mutation_p.W70*|FUT3_uc021unn.1_Nonsense_Mutation_p.W70*|BC033124_uc002mdn.3_5'Flank NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 70 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GTGGAAAGGCCATGTCCGTAG 0.647000 42 26 0 0 1 0 0 C4orf22 255119 broad.mit.edu 37 4 81866016 81866016 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:81866016C>T uc010ijp.3 + 5 629 c.580C>T c.(580-582)Caa>Taa p.Q194* C4orf22_uc003hmf.3_Nonsense_Mutation_p.Q177* NM_001206997 NP_001193926 Q6V702 CD022_HUMAN Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA. 177 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 TCCCAACTATCAAGTGATTGC 0.313000 48 5 0 0 1 0 0 KCNK9 51305 broad.mit.edu 37 8 140631221 140631221 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:140631221G>A uc003yvf.1 - 1 469 c.405C>T c.(403-405)ttC>ttT p.F135F KCNK9_uc003yvg.1_Silent_p.F135F|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 135 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GGTAGCGCACGAAGGTGTTCA 0.582000 28 4 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28149659 28149659 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:28149659C>T uc009xky.3 - 18 3014 c.2916G>A c.(2914-2916)ctG>ctA p.L972L ARMC4_uc010qds.2_Silent_p.L497L|ARMC4_uc010qdt.2_Silent_p.L664L|ARMC4_uc001itz.3_Silent_p.L972L NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 972 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CATTTGATTTCAGATAACGCA 0.507000 34 14 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189408 29189408 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:29189408C>T uc001brf.1 + 2 974 c.732C>T c.(730-732)cgC>cgT p.R244R NM_000911 NP_000902 P41143 OPRD_HUMAN Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA. 244 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding p.R244C(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GCAGTGTGCGCCTGCTGTCGG 0.647000 40 15 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151205082 151205082 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:151205082C>T uc001exj.3 + 6 994 c.542C>T c.(541-543)tCc>tTc p.S181F PIP5K1A_uc021oyo.1_Missense_Mutation_p.S169F|PIP5K1A_uc001exi.3_Missense_Mutation_p.S168F|PIP5K1A_uc010pcu.2_Missense_Mutation_p.S169F|PIP5K1A_uc001exk.3_Missense_Mutation_p.S168F|PIP5K1A_uc010pcv.2_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA. 181 PIPK. phospholipid biosynthetic process|signal transduction Golgi stack|endomembrane system|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTAGTGGTTCCCTATTCTAT 0.463000 37 4 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185183 127185183 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:127185183C>T uc004eum.3 - 0 1200 c.1003G>A c.(1003-1005)Gat>Aat p.D335N NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 335 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AAGCATCTATCAGGAGAAGCT 0.532000 22 31 0 0 1 0 0 C1QC 714 broad.mit.edu 37 1 22974214 22974214 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:22974214G>A uc001bgc.4 + 2 779 c.676G>A c.(676-678)Gac>Aac p.D226N C1QC_uc001bga.4_Missense_Mutation_p.D226N NM_172369 NP_758957 P02747 C1QC_HUMAN Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA. 226 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGACTACTACGACATGGTGGG 0.632000 50 19 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105449714 105449714 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:105449714C>T uc022cca.1 + 0 289 c.289C>T c.(289-291)Ctg>Ttg p.L97L MUM1L1_uc004emg.2_Silent_p.L97L|MUM1L1_uc004emf.2_Silent_p.L97L NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 97 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACTGGGTATTCTGAATGAGAG 0.453000 6 11 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48612238 48612238 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:48612238C>T uc003ctz.2 - 75 6341 c.6340G>A c.(6340-6342)Ggt>Agt p.G2114S NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 2114 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCTTAGCACCCTTGAGTCCA 0.582000 43 6 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58154266 58154266 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:58154266A>G uc003djj.2 + 43 7463 c.7298A>G c.(7297-7299)gAa>gGa p.E2433G FLNB_uc010hne.2_Missense_Mutation_p.E2464G|FLNB_uc003djk.2_Missense_Mutation_p.E2422G|FLNB_uc010hnf.2_Missense_Mutation_p.E2409G|FLNB_uc003djl.2_Missense_Mutation_p.E2253G|FLNB_uc003djm.2_Missense_Mutation_p.E2240G|BC041347_uc003djn.3_Intron NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 2433 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GATTGCCAGGAAACACCTGAA 0.522000 23 10 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101053462 101053462 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:101053462G>A uc003pqk.3 - 32 5488 c.5159C>T c.(5158-5160)cCt>cTt p.P1720L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA. 1720 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TACTGGGAAAGGTTCATAAAG 0.308000 4 3 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137665301 137665301 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:137665301A>C uc003lcs.1 - 2 664 c.464T>G c.(463-465)cTt>cGt p.L155R CDC25C_uc003lcp.1_Missense_Mutation_p.L77R|CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.L77R|CDC25C_uc011cyp.1_Missense_Mutation_p.L94R|CDC25C_uc010jet.1_Missense_Mutation_p.L77R|CDC25C_uc003lct.1_Missense_Mutation_p.L77R|CDC25C_uc003lcu.1_Intron NM_001790 NP_001781 P30307 MPIP3_HUMAN Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA. 77 DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm WW domain binding|protein tyrosine phosphatase activity p.D154N(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCCACTGCTAAGATTCGAAAG 0.418000 53 47 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98189371 98189371 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:98189371G>A uc003dsm.3 + 1 952 c.952_splice c.e1+1 NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGAAACAAGTGACATCTACTA 0.274000 14 3 0 0 1 0 0 MPZL3 196264 broad.mit.edu 37 11 118107914 118107914 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:118107914G>A uc001psm.3 - 2 304 c.302C>T c.(301-303)tCc>tTc p.S101F MPZL3_uc010rxy.2_Missense_Mutation_p.S89F|MPZL3_uc010rxz.2_Intron|MPZL3_uc009yzy.3_Intron NM_198275 NP_938016 Q6UWV2 MPZL3_HUMAN Homo sapiens myelin protein zero-like 3 (MPZL3), mRNA. 101 Ig-like V-type. cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TCCAACCCAGGAAATCCGATC 0.428000 28 24 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70520823 70520823 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:70520823C>T uc001joo.3 + 15 2099 c.1980C>T c.(1978-1980)tcC>tcT p.S660S CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Silent_p.S465S|CCAR1_uc009xpx.1_Silent_p.S634S|CCAR1_uc001jon.1_Silent_p.S606S|CCAR1_uc010qiz.1_Silent_p.S645S|CCAR1_uc010qja.1_Silent_p.S645S|CCAR1_uc010qjb.2_Non-coding_Transcript NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA. 660 SAP. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GATTAAAATCCCAGTTAATAG 0.363000 59 15 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46772952 46772952 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:46772952G>A uc001ndi.2 - 38 5392 c.5266C>T c.(5266-5268)Ccc>Tcc p.P1756S CKAP5_uc009ylg.1_Missense_Mutation_p.P1642S|CKAP5_uc001ndj.2_Missense_Mutation_p.P1696S|CKAP5_uc001ndh.1_Missense_Mutation_p.P685S NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 1756 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GTCCTTATGGGAAATTCACTT 0.418000 94 19 0 0 1 0 0 RRP7A 27341 broad.mit.edu 37 22 42910224 42910224 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:42910224G>A uc003bcp.3 - 3 1208 c.714C>T c.(712-714)ctC>ctT p.L238L RRP7A_uc003bcq.3_Silent_p.L215L NM_015703 NP_056518 Q9Y3A4 RRP7A_HUMAN Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA. 215 RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 CAGTCCGGGGGAGCACAGGCC 0.657000 59 6 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14689583 14689583 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:14689583G>A uc001rcc.1 - 4 781 c.620C>T c.(619-621)cCc>cTc p.P207L NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA. 207 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 AGAGAGTGAGGGAATCAGATC 0.443000 63 11 0 0 1 0 0 SOX14 8403 broad.mit.edu 37 3 137483998 137483998 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:137483998A>C uc003erm.2 + 0 865 c.372A>C c.(370-372)aaA>aaC p.K124N NM_004189 NP_004180 O95416 SOX14_HUMAN Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA. 124 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding large_intestine(2)|lung(12) 14 CGCCCGAGAAAGCCCGGGCCT 0.706000 28 8 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227403 28227403 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:28227403C>A uc003nkt.3 + 0 306 c.254C>A c.(253-255)tCc>tAc p.S85Y ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 85 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GCCTTCGCGTCCTCCTGGTCG 0.582000 65 15 1.52009e-12 1.54162e-12 1 1 0 BCORL1 63035 broad.mit.edu 37 X 129149995 129149995 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:129149995C>T uc022cdu.1 + 2 3291 c.3247C>T c.(3247-3249)Cgg>Tgg p.R1083W BCORL1_uc010nrd.1_Missense_Mutation_p.R985W NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 1083 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGCTGAAGTTCGGGCTAAGGC 0.572000 47 24 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56344924 56344924 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:56344924C>T uc002ivt.3 + 11 2224 c.1908C>T c.(1906-1908)ttC>ttT p.F636F LPO_uc010wns.2_Silent_p.F577F|LPO_uc010dcp.3_Silent_p.F553F|LPO_uc010dcq.3_Silent_p.F307F|LPO_uc010dcr.3_Silent_p.F199F NM_006151 NP_006142 P22079 PERL_HUMAN Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA. 636 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GCAAGCAGTTCCAGCAGATCC 0.642000 36 23 0 0 1 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297320 144297320 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:144297320C>T uc003yxu.2 + 3 557 c.482C>T c.(481-483)tCc>tTc p.S161F NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN Homo sapiens glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 (GPIHBP1), mRNA. 161 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CGGGGCAGCTCCGAAACTGTG 0.697000 30 8 0 0 1 0 0 C12orf50 160419 broad.mit.edu 37 12 88376927 88376927 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:88376927C>T uc001tam.1 - 11 1340 c.1172G>A c.(1171-1173)cGa>cAa p.R391Q NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 391 p.R391Q(2) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 AAAAGGAATTCGTTTTCGCCA 0.264000 48 11 0 0 1 0 0 CACNB3 784 broad.mit.edu 37 12 49218504 49218504 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:49218504C>T uc001rsl.2 + 4 919 c.460C>T c.(460-462)Ccg>Tcg p.P154S CACNB3_uc010slx.2_Missense_Mutation_p.P141S|CACNB3_uc010sly.2_Missense_Mutation_p.P141S|CACNB3_uc010slz.2_Missense_Mutation_p.P153S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.P113S NM_000725 NP_000716 P54284 CACB3_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA. 154 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) ACGCTCCCCTCCGCCATCTCT 0.557000 33 6 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72129059 72129059 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:72129059G>A uc003xyu.3 - 13 1868 c.1228C>T c.(1228-1230)Cct>Tct p.P410S EYA1_uc003xyt.4_Missense_Mutation_p.P377S|EYA1_uc003xyr.4_Missense_Mutation_p.P375S|EYA1_uc010lzf.3_Missense_Mutation_p.P337S|EYA1_uc003xys.4_Missense_Mutation_p.P410S|EYA1_uc011lfe.2_Missense_Mutation_p.P404S|EYA1_uc003xyv.3_Missense_Mutation_p.P288S NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 410 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCTGCAGCAGGAAAGCCATCT 0.433000 17 13 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16276733 16276733 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:16276733C>T uc002den.4 - 15 2035 c.1998G>A c.(1996-1998)ggG>ggA p.G666G ABCC6_uc010bvo.3_Non-coding_Transcript NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 666 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) ACTTCCCTGCCCCCACTGGAC 0.627000 90 6 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79286048 79286048 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:79286048C>A uc010nmg.1 + 8 1135 c.1001C>A c.(1000-1002)cCt>cAt p.P334H TBX22_uc004edi.1_Missense_Mutation_p.P214H|TBX22_uc004edj.1_Missense_Mutation_p.P334H NM_001109878 NP_001103349 Q9Y458 TBX22_HUMAN Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA. 334 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GCCCCCTCTCCTTTGAACTCC 0.468000 11 23 6.21321e-17 6.32226e-17 1 1 0 ZNF382 84911 broad.mit.edu 37 19 37117868 37117868 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:37117868T>A uc002oek.3 + 4 1182 c.1069T>A c.(1069-1071)Tgt>Agt p.C357S ZNF382_uc010efa.3_Missense_Mutation_p.C308S|ZNF382_uc010efb.3_Missense_Mutation_p.C356S|ZNF382_uc002oel.3_Missense_Mutation_p.C356S NM_032825 NP_116214 Q96SR6 ZN382_HUMAN Homo sapiens zinc finger protein 382 (ZNF382), mRNA. 357 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTGTATCGATTGTGGGAAGTC 0.468000 16 11 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57744905 57744905 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:57744905C>T uc002qoe.3 + 4 702 c.513C>T c.(511-513)aaC>aaT p.N171N AURKC_uc002qoc.3_Silent_p.N152N|AURKC_uc002qod.3_Silent_p.N137N|AURKC_uc010etv.3_Silent_p.N168N NM_001015878 NP_003151 Q9UQB9 AURKC_HUMAN Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA. 171 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) AGCCAGAGAACCTGCTGCTGG 0.517000 35 9 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 674722 674723 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:674722_674723GG>AA uc001lqq.1 - 9 2009_2010 c.1316_1317CC>TT c.(1315-1317)ccc>cTT p.P439L DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.P350L NM_021008 NP_066288 O75398 DEAF1_HUMAN Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA. 439 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding p.P439L(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) TGACCAACGCGGGAGGTGCCGC 0.564000 77 38 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56952682 56952682 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:56952682C>T uc002qne.3 - 6 2473 c.1682G>A c.(1681-1683)gGg>gAg p.G561E ZNF667_uc010etl.3_Missense_Mutation_p.G343E|ZNF667_uc002qnd.3_Missense_Mutation_p.G561E|ZNF667_uc010etm.3_Missense_Mutation_p.G504E NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA. 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AAATGCCTTCCCACATTCATT 0.413000 48 12 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436372 72436372 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:72436372G>A uc002jkp.3 + 1 1103 c.592G>A c.(592-594)Ggc>Agc p.G198S GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.G165S|GPRC5C_uc002jkt.3_Missense_Mutation_p.G153S|GPRC5C_uc002jku.3_5'Flank NM_022036 NP_071319 Q9NQ84 GPC5C_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA. 153 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 CGGGCCCCGGGGCTGGGTGAT 0.602000 129 14 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102045139 102045139 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:102045139G>A uc001tii.3 + 13 1559 c.1419G>A c.(1417-1419)gaG>gaA p.E473E MYBPC1_uc001tif.2_Silent_p.E486E|MYBPC1_uc001tig.3_Silent_p.E498E|MYBPC1_uc010svr.2_Silent_p.E473E|MYBPC1_uc010svs.2_Silent_p.E473E|MYBPC1_uc001tij.3_Silent_p.E473E|MYBPC1_uc010svt.2_Silent_p.E461E|MYBPC1_uc010svu.2_Silent_p.E454E|MYBPC1_uc001tik.3_Silent_p.E447E|MYBPC1_uc001tih.3_Silent_p.E498E|MYBPC1_uc010svq.2_Silent_p.E460E NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 473 Ig-like C2-type 4. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 CTGTTCAGGAGAGTGACCGTC 0.433000 114 33 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74934147 74934147 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:74934147C>T uc002jti.3 + 10 1636 c.1533C>T c.(1531-1533)ccC>ccT p.P511P MGAT5B_uc002jth.3_Silent_p.P500P NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 502 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCAGCGGCCCCCCGAGGTGC 0.582000 59 30 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12342936 12342936 + Missense_Mutation SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:12342936T>G uc001atv.3 + 20 4918 c.4777T>G c.(4777-4779)Ttg>Gtg p.L1593V VPS13D_uc001atw.3_Missense_Mutation_p.L1593V|VPS13D_uc001atx.3_Missense_Mutation_p.L781V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1593 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGAGAATGGATTGTTCAGCCA 0.468000 70 23 0 0 1 0 0 RAP1A 5906 broad.mit.edu 37 1 112234012 112234012 + Silent SNP T G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:112234012T>G uc001ebi.3 + 1 134 c.30T>G c.(28-30)ggT>ggG p.G10G RAP1A_uc001ebk.3_Silent_p.G10G|RAP1A_uc001ebl.3_Silent_p.G10G NM_002884 NP_002875 P62834 RAP1A_HUMAN Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA. 10 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) TGGTCCTTGGTTCAGGAGGCG 0.368000 43 6 0 0 1 0 0 YWHAH 7533 broad.mit.edu 37 22 32352173 32352173 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:32352173C>T uc003alz.3 + 1 376 c.135C>T c.(133-135)ctC>ctT p.L45L YWHAH_uc003ama.3_5'UTR|YWHAH_uc010gwm.3_Silent_p.L32L NM_003405 NP_003396 Q04917 1433F_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA. 45 glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1) 4 GAAATCTCCTCTCTGTGGCCT 0.433000 21 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082654 9082654 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9082654G>A uc002mkp.3 - 0 9365 c.9161C>T c.(9160-9162)tCa>tTa p.S3054L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3055 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 AAGAAATAGTGAAGTCTTTCT 0.478000 49 13 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66913580 66913580 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:66913580A>T uc002jhq.3 - 16 2400 c.2060T>A c.(2059-2061)tTt>tAt p.F687Y ABCA8_uc002jhp.3_Missense_Mutation_p.F647Y|ABCA8_uc010wqq.2_Missense_Mutation_p.F687Y|ABCA8_uc010wqr.2_Missense_Mutation_p.F626Y|ABCA8_uc002jhr.3_Missense_Mutation_p.F687Y NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 647 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTGGGAGAGAAATACTTTCCT 0.388000 105 15 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2928890 2928890 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:2928890G>A uc003bpc.3 + 9 1261 c.922G>A c.(922-924)Gga>Aga p.G308R CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.G308R|CNTN4_uc003bpd.1_Missense_Mutation_p.G308R NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 308 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGTAGCAAGGGGACAGCTAAC 0.378000 32 4 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567192 4567192 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:4567192A>C uc010qyf.2 + 0 772 c.772A>C c.(772-774)Att>Ctt p.I258L NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 258 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) TTATGTTCCCATTGCTGTTTC 0.517000 45 24 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124993032 124993032 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:124993032C>T uc003yqw.3 + 10 1597 c.1391C>T c.(1390-1392)tCg>tTg p.S464L NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 464 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) GAGGTGGAATCGTTCGATGTC 0.493000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 9 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47372994 47372994 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:47372994C>T uc021qis.1 - 1 143 c.88G>A c.(88-90)Gag>Aag p.E30K MYBPC3_uc021qir.1_5'UTR NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 30 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GTCTCGGCCTCGAACACGGCA 0.652000 6 8 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43266471 43266471 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:43266471C>T uc021yzt.1 + 0 474 c.375C>T c.(373-375)tcC>tcT p.S125S SLC22A7_uc010jyl.1_Silent_p.S125S|SLC22A7_uc003ous.3_Silent_p.S125S|SLC22A7_uc003out.3_Silent_p.S125S NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 125 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity p.F124L(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CAGAATTCTCCTCTACCATTG 0.552000 38 7 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518119 8518119 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:8518119G>A uc003zkk.3 - 20 2015 c.1272C>T c.(1270-1272)gtC>gtT p.V424V PTPRD_uc003zkp.3_Silent_p.V424V|PTPRD_uc003zkq.3_Silent_p.V424V|PTPRD_uc003zkr.3_Silent_p.V418V|PTPRD_uc003zks.3_Silent_p.V414V|PTPRD_uc022bdj.1_Silent_p.V421V NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 424 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCGTGCCTGGACATCCCTCG 0.502000 TSP Lung(15;0.13) 34 28 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123601499 123601499 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:123601499G>A uc001pzd.1 - 3 498 c.98C>T c.(97-99)tCt>tTt p.S33F ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.S33F|ZNF202_uc001pzf.1_Missense_Mutation_p.S33F NM_003455 NP_003446 O95125 ZN202_HUMAN Homo sapiens zinc finger protein 202 (ZNF202), mRNA. 33 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CTGTAAGACAGACTCTGGCCG 0.537000 27 17 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132919 7132919 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7132919G>A uc002gez.1 - 5 1017 c.735C>T c.(733-735)ccC>ccT p.P245P DVL2_uc010vtr.1_Silent_p.P239P|DVL2_uc010vts.1_Silent_p.P147P|DVL2_uc010clz.1_3'UTR NM_004422 NP_004413 O14641 DVL2_HUMAN Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA. 245 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 TCTCCAGGCGGGGTGGCCTCT 0.667000 61 30 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042488 75042488 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:75042488C>T uc002ayr.1 + 1 473 c.409C>T c.(409-411)Cgg>Tgg p.R137W NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 137 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding p.R136H(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GGCTGCCCGCCGGCGCCTGGC 0.612000 250 31 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35863100 35863100 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:35863100C>T uc021usn.1 + 0 844 c.839C>T c.(838-840)tCc>tTc p.S280F NM_005304 NP_005295 O14843 FFAR3_HUMAN Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA. 280 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TACTTCTCCTCCTCCGGGTTC 0.582000 11 16 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323052 61323052 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:61323052C>T uc002lji.3 - 7 1156 c.1012G>A c.(1012-1014)Gag>Aag p.E338K SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.E286K NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 338 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.E338Q(2) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 GCTCCCTCCTCTGTAACCTCC 0.517000 40 26 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586098 7586098 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7586098C>T uc010sge.2 - 2 343 c.317G>A c.(316-318)aGa>aAa p.R106K CD163L1_uc001qsy.3_Missense_Mutation_p.R106K NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 106 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TTTTCCATGTCTAGTCACGGC 0.448000 48 25 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121219213 121219213 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:121219213G>A uc003yox.3 + 9 1336 c.1071G>A c.(1069-1071)acG>acA p.T357T COL14A1_uc003yoy.3_Silent_p.T35T|COL14A1_uc010mde.1_Silent_p.T35T NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 357 Fibronectin type-III 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGCCGCCTACGGAGTTGATTA 0.403000 12 8 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48650203 48650203 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48650203C>T uc002irk.1 + 5 1407 c.1035C>T c.(1033-1035)atC>atT p.I345I CACNA1G_uc002iri.1_Silent_p.I345I|CACNA1G_uc002irj.1_Silent_p.I345I|CACNA1G_uc002irl.1_Silent_p.I345I|CACNA1G_uc002irm.1_Silent_p.I345I|CACNA1G_uc002irn.1_Silent_p.I345I|CACNA1G_uc002iro.1_Silent_p.I345I|CACNA1G_uc002irp.1_Silent_p.I345I|CACNA1G_uc002irq.1_Silent_p.I345I|CACNA1G_uc002irr.1_Silent_p.I345I|CACNA1G_uc002irs.1_Silent_p.I345I|CACNA1G_uc002irt.1_Silent_p.I345I|CACNA1G_uc002iru.1_Silent_p.I345I|CACNA1G_uc002irv.1_Silent_p.I345I|CACNA1G_uc002irw.1_Silent_p.I345I|CACNA1G_uc002irx.1_Silent_p.I258I|CACNA1G_uc002iry.1_Silent_p.I258I|CACNA1G_uc002isg.1_Silent_p.I258I|CACNA1G_uc002ish.1_Silent_p.I258I|CACNA1G_uc002isi.1_Silent_p.I258I|CACNA1G_uc002irz.1_Silent_p.I258I|CACNA1G_uc002isa.1_Silent_p.I258I|CACNA1G_uc002isd.1_Silent_p.I258I|CACNA1G_uc002isb.1_Silent_p.I258I|CACNA1G_uc002isc.1_Silent_p.I258I|CACNA1G_uc002ise.1_Silent_p.I258I|CACNA1G_uc002isf.1_Silent_p.I258I NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 345 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ATGCCTGGATCGCCATCTTCC 0.617000 62 9 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177098264 177098264 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:177098264G>A uc003iuj.3 + 28 3925 c.3622G>A c.(3622-3624)Gag>Aag p.E1208K WDR17_uc003ium.4_Missense_Mutation_p.E1169K|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.E419K NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA. 1208 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATATCTTTCTGAGGAATTGGA 0.363000 27 8 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90429700 90429700 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:90429700C>T uc001xxy.3 + 2 541 c.242C>T c.(241-243)tCc>tTc p.S81F TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.S81F|TDP1_uc010atn.3_Missense_Mutation_p.S81F|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA. 81 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) AAAAGCGGTTCCCAGGAGGAC 0.488000 Repair of DNA-protein crosslinks 41 57 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152560826 152560826 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:152560826G>A uc021zhb.1 - 105 20132 c.19909C>T c.(19909-19911)Ctg>Ttg p.L6637L SYNE1_uc003qos.4_Silent_p.L1161L|SYNE1_uc003qot.4_Silent_p.L6566L|SYNE1_uc003qou.4_Silent_p.L6637L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 6637 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 p.L6637L(1) 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) TGAGATTCCAGGCCCTGAAAG 0.423000 HNSCC(10;0.0054) 10 12 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511437 242511437 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:242511437G>A uc001hzn.2 - 2 524 c.297C>T c.(295-297)ctC>ctT p.L99L PLD5_uc021pll.1_Missense_Mutation_p.S5F|PLD5_uc001hzl.4_Silent_p.L37L|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Missense_Mutation_p.S5F NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 99 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTTTTTCTGAGAGTCCATCCT 0.453000 58 25 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134102706 134102706 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:134102706C>T uc003kzw.3 + 2 474 c.306C>T c.(304-306)tcC>tcT p.S102S DDX46_uc003kzv.1_Intron NM_014829 NP_055644 Q7L014 DDX46_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA. 102 Arg-rich. RNA splicing|mRNA processing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCCGGCGATCCCGATCCTCCA 0.507000 28 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249718 140249718 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140249718G>A uc003lia.2 + 0 1888 c.1030G>A c.(1030-1032)Gat>Aat p.D344N 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.D344N NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 360 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) GGACACCAACGATAACTCTCC 0.512000 24 16 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96485297 96485297 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:96485297G>A uc001vmt.3 - 37 4582 c.4412C>T c.(4411-4413)cCc>cTc p.P1471L UGGT2_uc001vms.3_Missense_Mutation_p.P191L NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA. 1471 Glucosyltransferase. post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTTTGTTTTGGGATTATTGCA 0.358000 6 5 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62028952 62028953 + Missense_Mutation DNP GT TA TA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:62028952_62028953GT>TA uc002jds.1 - 13 2761_2762 c.2684_2685AC>TA c.(2683-2685)aac>aTA p.N895I NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 895 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGCCCATGTGGTTCAGGATGTG 0.639000 34 10 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449477 104449478 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:104449477_104449478GG>AA uc004bbp.2 - 1 1305_1306 c.704_705CC>TT c.(703-705)ccc>cTT p.P235L GRIN3A_uc004bbq.1_Missense_Mutation_p.P235L NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 235 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) GTAGGTGAAGGGGATTCTGTAT 0.347000 46 16 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55191864 55191864 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:55191864C>T uc010wnl.2 + 6 2430 c.2148C>T c.(2146-2148)aaC>aaT p.N716N AKAP1_uc002iux.3_Silent_p.N716N|AKAP1_uc021uak.1_Silent_p.N716N|AKAP1_uc010dcm.3_Silent_p.N716N|AKAP1_uc002iuy.3_Non-coding_Transcript NM_001242902 NP_001229831 Q92667 AKAP1_HUMAN Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA. 716 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane RNA binding|protein binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TTGTGGTCAACCAGGTCAATG 0.562000 OREG0024595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 22 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31612751 31612752 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:31612751_31612752GG>AA uc003nvg.4 - 9 1672_1673 c.1358_1359CC>TT c.(1357-1359)ccc>cTT p.P453L BAG6_uc003nvf.4_Missense_Mutation_p.P447L|BAG6_uc003nvi.4_Missense_Mutation_p.P447L|BAG6_uc003nvh.4_Missense_Mutation_p.P447L|BAG6_uc011dnw.2_Missense_Mutation_p.P447L|BAG6_uc011dnx.2_Missense_Mutation_p.P447L NM_004639 NP_004630 P46379 BAG6_HUMAN Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA. 453 4 X 29 AA approximate repeats.|Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 TCATGACCACGGGTTCCACACT 0.599000 199 50 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142639603 142639603 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142639603C>T uc003wcb.3 - 17 2165 c.1955G>A c.(1954-1956)aGg>aAg p.R652K NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 652 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCGTAACAGCCTCTTGCTGTA 0.592000 6 11 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41094951 41094951 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:41094951G>A uc001cfu.1 - 5 1031 c.566C>T c.(565-567)tCc>tTc p.S189F RIMS3_uc001cfv.1_Missense_Mutation_p.S189F NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA. 189 C2. neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) ACCTGGGAGGGATTTGGAGCC 0.587000 53 77 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713022 32713022 + Missense_Mutation SNP G A A rs52830651 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:32713022G>A uc003obx.3 + 1 227 c.169G>A c.(169-171)Gag>Aag p.E57K NM_020056 NP_064440 P01906 DQA2_HUMAN Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA. 57 Alpha-1. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGAGACGAGGAGTTCTATGT 0.488000 99 20 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73453413 73453413 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:73453413G>A uc003dpl.1 - 3 1148 c.1052C>T c.(1051-1053)tCt>tTt p.S351F PDZRN3_uc011bgh.1_Missense_Mutation_p.S8F|PDZRN3_uc010hoe.1_Missense_Mutation_p.S49F|PDZRN3_uc011bgf.1_Missense_Mutation_p.S68F|PDZRN3_uc011bgg.1_Missense_Mutation_p.S71F NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 351 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CACCAGCTGAGACTCTGATGG 0.537000 46 18 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30977133 30977133 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:30977133C>T uc002ead.1 + 7 2617 c.1931C>T c.(1930-1932)cCt>cTt p.P644L NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 644 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCGCCGCCCCCTGAGTACCCC 0.652000 16 20 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469098 10469098 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:10469098G>A uc003wtc.3 - 3 2739 c.2510C>T c.(2509-2511)gCc>gTc p.A837V NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 837 intracellular signal transduction p.E836K(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCCCCGCTGGGCCTCTTGGGC 0.711000 9 10 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70450954 70450954 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:70450954C>T uc002lkw.3 - 6 1111 c.827G>A c.(826-828)cGa>cAa p.R276Q NETO1_uc002lky.2_Missense_Mutation_p.R276Q NM_001201465 NP_001188394 Q8TDF5 NETO1_HUMAN Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA. 276 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCGGCTGTTTCGACTGCCCTC 0.463000 44 50 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160151741 160151741 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:160151741G>A uc001fve.4 + 19 3368 c.2889G>A c.(2887-2889)ggG>ggA p.G963G ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.G466G|ATP1A4_uc001fvh.3_Silent_p.G99G NM_144699 NP_653300 Q13733 AT1A4_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA. 963 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TAATATTTGGGATCCTGGAGG 0.532000 142 69 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089247 43089247 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:43089247G>A uc003bdb.3 - 2 972 c.711C>T c.(709-711)ttC>ttT p.F237F A4GALT_uc021wqo.1_Silent_p.F237F|A4GALT_uc021wqp.1_Silent_p.F237F|A4GALT_uc010gzd.3_Silent_p.F237F|A4GALT_uc021wqq.1_Silent_p.F237F NM_017436 NP_059132 Q9NPC4 A4GAT_HUMAN Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA. 237 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 AGTGGTCCACGAAGTCCCGCA 0.657000 18 6 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232143139 232143139 + Missense_Mutation SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:232143139C>G uc002vrq.4 + 15 1631 c.1519C>G c.(1519-1521)Ctt>Gtt p.L507V ARMC9_uc002vrp.4_Missense_Mutation_p.L507V|ARMC9_uc002vrr.1_Non-coding_Transcript NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 507 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GCTCAAAGTCCTTTCGGATCT 0.517000 23 69 0 0 1 0 0 HSP90B3P 343477 broad.mit.edu 37 1 92108427 92108427 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:92108427C>T uc010osx.2 + 2 454 c.454C>T c.(454-456)Cta>Tta p.L152L Homo sapiens heat shock protein 90kDa beta (Grp94), member 3, pseudogene (HSP90B3P), non-coding RNA. TCCACGTGGTCTATTTGATGA 0.368000 10 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179408964 179408964 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179408964C>T uc021vsy.1 - 293 88513 c.88288G>A c.(88288-88290)Gaa>Aaa p.E29430K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23125K|TTN_uc021vta.1_Missense_Mutation_p.E23058K|TTN_uc021vtb.1_Missense_Mutation_p.E22933K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30357 Fibronectin type-III 114. 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) GCAATTGATTCGCTGTATTCG 0.383000 9 29 0 0 1 0 0 CXXC11 285093 broad.mit.edu 37 2 242815481 242815481 + Splice_Site SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:242815481A>C uc010fzu.1 + 2 1798 c.1775_splice c.e2+1 NM_173821 NP_776182 Q14D33 CB085_HUMAN Homo sapiens CXXC finger protein 11 (CXXC11), mRNA. integral to membrane CCTCTGAGACACCCCCCAACC 0.697000 21 9 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764266 92764266 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92764266G>A uc003umh.1 - 4 2235 c.1019C>T c.(1018-1020)tCa>tTa p.S340L SAMD9L_uc003umj.1_Missense_Mutation_p.S340L|SAMD9L_uc003umi.1_Missense_Mutation_p.S340L|SAMD9L_uc010lfb.1_Missense_Mutation_p.S340L|SAMD9L_uc003umk.1_Missense_Mutation_p.S340L|SAMD9L_uc010lfc.1_Missense_Mutation_p.S340L|SAMD9L_uc010lfd.1_Missense_Mutation_p.S340L|SAMD9L_uc022ahh.1_Missense_Mutation_p.S340L NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 340 p.L339F(1)|p.L339I(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TACAAACAGTGAAAGATTTTG 0.333000 62 50 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5215312 5215312 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:5215312G>A uc002mbv.3 - 27 4540 c.4306C>T c.(4306-4308)Cag>Tag p.Q1436* PTPRS_uc002mbu.1_Nonsense_Mutation_p.Q1005*|PTPRS_uc010xin.2_Nonsense_Mutation_p.Q978*|PTPRS_uc002mbw.3_Nonsense_Mutation_p.Q1398*|PTPRS_uc002mbx.3_Nonsense_Mutation_p.Q993*|PTPRS_uc002mby.3_Nonsense_Mutation_p.Q989* NM_002850 NP_002841 Q13332 PTPRS_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA. 1436 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCAATGGGCTGGAGGATGACA 0.557000 22 10 0 0 1 0 0 LIMK2 3985 broad.mit.edu 37 22 31669487 31669487 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:31669487C>T uc003akh.3 + 13 1753 c.1608C>T c.(1606-1608)ctC>ctT p.L536L LIMK2_uc003aki.3_Silent_p.L290L|LIMK2_uc003akj.3_Silent_p.L515L|LIMK2_uc003akk.3_Silent_p.L515L|LIMK2_uc011aln.2_Silent_p.L453L NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 536 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GGATCGTTCTCTGTGAGGTGA 0.552000 OREG0026477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 5 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132398367 132398367 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:132398367C>T uc001uje.3 + 14 1501 c.1233C>T c.(1231-1233)tcC>tcT p.S411S NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 411 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCAGCAGCTCCCCCAGTCCCT 0.687000 25 7 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027539 37027539 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:37027539C>T uc004ddl.2 + 0 1108 c.1056C>T c.(1054-1056)tcC>tcT p.S352S NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 352 p.V351M(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CTGGAGTGTCCCATCTCTGCC 0.632000 12 36 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27326381 27326381 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:27326381C>T uc003cdt.2 - 21 2135 c.1861G>A c.(1861-1863)Gaa>Aaa p.E621K NEK10_uc003cds.1_Missense_Mutation_p.E18K NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 621 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGATGTTTTTCCTTCAAAGAA 0.328000 22 25 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110099751 110099751 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:110099751G>A uc003ymz.4 + 0 99 c.10G>A c.(10-12)Gag>Aag p.E4K NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 4 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GATGGAAAACGAGACAGTCAG 0.458000 35 3 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203311547 203311547 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:203311547C>T uc001gzr.3 - 2 1191 c.1055G>A c.(1054-1056)gGg>gAg p.G352E NM_002023 NP_002014 Q06828 FMOD_HUMAN Homo sapiens fibromodulin (FMOD), mRNA. 352 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GATCTCGTTCCCGTCCAGGCG 0.647000 OREG0014119 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 7 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91674419 91674419 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:91674419C>T uc003ulg.3 + 20 5485 c.5260C>T c.(5260-5262)Ctt>Ttt p.L1754F AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1766 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCGCCATGTCCTTGGGATTCT 0.423000 T BRAF papillary thyroid 104 25 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72189840 72189840 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:72189840G>A uc002atl.4 - 24 5477 c.5004C>T c.(5002-5004)ccC>ccT p.P1668P MYO9A_uc010biq.3_Silent_p.P1288P|MYO9A_uc002atn.1_Silent_p.P1649P|MYO9A_uc002atk.3_Silent_p.P392P|MYO9A_uc002atm.1_Silent_p.P392P NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1668 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGAAGAAAATGGGCCTAGCAT 0.368000 53 11 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82475947 82475947 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:82475947G>A uc003uhx.2 - 11 14056 c.13767C>T c.(13765-13767)gaC>gaT p.D4589D PCLO_uc003uhv.2_Silent_p.D4589D|PCLO_uc003uht.1_Silent_p.D40D|PCLO_uc003uhu.1_Silent_p.D19D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4477 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCATATTGAGGTCCCTAAAAA 0.323000 11 8 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138159 126138159 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:126138159C>T uc001uhe.1 + 8 2148 c.2140C>T c.(2140-2142)Cct>Tct p.P714S TMEM132B_uc001uhf.1_Missense_Mutation_p.P226S NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 714 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TTCGGTGACACCTTTAGACAT 0.383000 67 10 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291407 141291407 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:141291407C>T uc022cfj.1 - 0 367 c.367G>A c.(367-369)Gat>Aat p.D123N MAGEC2_uc004fbu.2_Missense_Mutation_p.D123N NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 123 cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) GTGCCTGTATCCTCCCCTTTC 0.537000 HNSCC(46;0.14) 46 32 0 0 1 0 0 GPBP1 65056 broad.mit.edu 37 5 56527021 56527021 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:56527021C>T uc003jrk.4 + 3 362 c.305C>T c.(304-306)tCc>tTc p.S102F GPBP1_uc003jrh.4_Missense_Mutation_p.S95F|GPBP1_uc003jri.4_5'UTR|GPBP1_uc003jrj.4_Missense_Mutation_p.S102F|GPBP1_uc021xyv.1_5'UTR NM_001127236 NP_001190175 Q86WP2 GPBP1_HUMAN Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA. 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) GGTGGAAGTTCCCGTTCTCGT 0.408000 15 13 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5020958 5020958 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:5020958G>A uc001qnh.3 + 1 1519 c.414G>A c.(412-414)aaG>aaA p.K138K KCNA1_uc021qts.1_Silent_p.K138K NM_000217 NP_000208 Q09470 KCNA1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA. 138 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTTCATCAAGGAGGAGGAGC 0.632000 63 13 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28459414 28459414 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:28459414G>A uc001zbj.3 - 40 6469 c.6363C>T c.(6361-6363)tcC>tcT p.S2121S NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 2121 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCTCAGCGTGGACTCTGAGG 0.672000 34 16 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81171181 81171181 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:81171181G>A uc002bfw.1 + 2 474 c.214G>A c.(214-216)Gtc>Atc p.V72I KIAA1199_uc010unn.1_Missense_Mutation_p.V72I NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 72 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TTCTGCCACGGTCTATTCCAT 0.572000 75 14 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16261246 16261246 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:16261246C>T uc001axk.1 + 10 8715 c.8511C>T c.(8509-8511)atC>atT p.I2837I SPEN_uc010obp.1_Silent_p.I2796I NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2837 Interaction with RBPSUH (By similarity). Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCAGCCAGATCCCCCCGGCCA 0.572000 22 26 0 0 1 0 0 ZNF562 54811 broad.mit.edu 37 19 9764272 9764272 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9764272C>T uc002mly.3 - 5 850 c.634G>A c.(634-636)Ggc>Agc p.G212S ZNF562_uc010xks.2_Missense_Mutation_p.G212S|ZNF562_uc002mlx.3_Missense_Mutation_p.G140S|ZNF562_uc010xkt.2_Missense_Mutation_p.G175S|ZNF562_uc010xku.2_Missense_Mutation_p.G143S|ZNF562_uc010xkv.1_Missense_Mutation_p.G211S|ZNF562_uc010xkw.1_Missense_Mutation_p.G96S NM_001130031 NP_001123504 Q6V9R5 ZN562_HUMAN Homo sapiens zinc finger protein 562 (ZNF562), transcript variant 1, mRNA. 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 TACTTAAAGCCTTTTCCACAT 0.408000 25 8 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76128895 76128895 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:76128895T>A uc003keo.3 + 1 638 c.463T>A c.(463-465)Ttc>Atc p.F155I NM_005242 NP_005233 P55085 PAR2_HUMAN Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA. 155 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity p.F155L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TATTGGCTTTTTCTATGGCAA 0.478000 225 64 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235899 23235899 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:23235899C>T uc001wgn.2 + 0 169 c.169C>T c.(169-171)Ctt>Ttt p.L57F OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank NM_005015 NP_005006 Q15070 OXA1L_HUMAN Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA. 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AGCAAGTCCTCTTCCGGGCAA 0.607000 86 40 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123262119 123262119 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:123262119C>T uc001udc.3 + 1 280 c.118C>T c.(118-120)Cga>Tga p.R40* CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_5'UTR NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 40 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) ATTAAAAGATCGAGATAAAGA 0.448000 24 5 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20387498 20387498 + Silent SNP G A A rs140175402 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:20387498G>A uc002dhc.1 - 3 658 c.435C>T c.(433-435)gtC>gtT p.V145V NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 145 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TCAACCAAACGACTAAGGCAG 0.458000 20 25 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171716373 171716373 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:171716373G>A uc002ugi.3 + 16 2188 c.1766G>A c.(1765-1767)aGa>aAa p.R589K GAD1_uc010fqc.3_Missense_Mutation_p.R208K NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 589 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GAGATAGAAAGACTGGGCCAG 0.498000 15 6 0 0 1 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672566 141672566 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:141672566C>T uc003vwx.1 - 0 1008 c.924G>A c.(922-924)gtG>gtA p.V308V NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 308 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) GAATGGTCATCACAGCTCTCC 0.522000 34 29 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39135169 39135169 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:39135169G>A uc010cxh.1 - 7 1244 c.1083C>T c.(1081-1083)atC>atT p.I361I KRT40_uc002hvq.1_Non-coding_Transcript NM_182497 NP_872303 Q6A162 K1C40_HUMAN Homo sapiens keratin 40 (KRT40), mRNA. 361 Coil 2.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GGTCGCAGCGGATCTCGGCCA 0.607000 95 61 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41098844 41098844 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:41098844G>A uc001cfu.1 - 4 834 c.369C>T c.(367-369)ttC>ttT p.F123F RIMS3_uc001cfv.1_Silent_p.F123F NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA. 123 neurotransmitter transport cell junction|synapse p.F123I(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) GGGTAGTGGGGAAGATGAACC 0.617000 70 20 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18622975 18622975 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:18622975G>A uc003wza.3 - 8 2259 c.2156C>T c.(2155-2157)tCc>tTc p.S719F PSD3_uc003wyy.3_Missense_Mutation_p.S185F|PSD3_uc003wyz.3_Missense_Mutation_p.S20F NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA. 720 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CAGATCCTTGGAGAAATCAAC 0.398000 79 24 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55970916 55970916 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:55970916C>T uc003has.3 - 12 2183 c.1881G>A c.(1879-1881)atG>atA p.M627I KDR_uc003hat.1_Missense_Mutation_p.M627I|KDR_uc011bzx.2_Missense_Mutation_p.M627I NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 627 Ig-like C2-type 6. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCTTAAGCTCCATGATCAAAA 0.453000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 8 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49680548 49680548 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49680548A>G uc003cxe.4 + 2 1595 c.1481A>G c.(1480-1482)aAc>aGc p.N494S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 494 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGGTGTGCAACCTGTGTGGC 0.592000 17 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9019313 9019313 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9019313C>T uc002mkp.3 - 22 37778 c.37574G>A c.(37573-37575)gGa>gAa p.G12525E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12527 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 CCCTGAGGTTCCAAGGTCCAC 0.473000 14 4 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698762 49698762 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49698762G>A uc003cxe.4 + 5 9598 c.9484G>A c.(9484-9486)Gag>Aag p.E3162K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3162 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CACCAACTATGAGGTGATCGC 0.612000 35 30 0 0 1 0 0 TRIM22 10346 broad.mit.edu 37 11 5718514 5718514 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:5718514G>A uc001mbr.3 + 2 839 c.460G>A c.(460-462)Gag>Aag p.E154K TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Intron|TRIM22_uc009yes.3_Missense_Mutation_p.E154K NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA. 154 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCTGATAAAGGAGGATCAAGA 0.463000 OREG0003730 type=REGULATORY REGION|Gene=TRIM22|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 5 0 0 1 0 0 PPP1R7 5510 broad.mit.edu 37 2 242098640 242098640 + Missense_Mutation SNP C T T rs146512636 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:242098640C>T uc002wat.1 + 4 325 c.316C>T c.(316-318)Cgc>Tgc p.R106C PPP1R7_uc010fzm.1_Missense_Mutation_p.R90C|PPP1R7_uc002was.3_Missense_Mutation_p.R106C|PPP1R7_uc002wau.1_Missense_Mutation_p.R63C NM_002712 NP_002703 Q15435 PP1R7_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA. 106 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) TCTCTGCCTCCGCCAAAATTT 0.493000 82 135 0 0 1 0 0 D21847 0 broad.mit.edu 37 14 22090685 22090685 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:22090685G>A uc001wbi.2 + 1 337 c.324G>A c.(322-324)atG>atA p.M108I Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133. AGCTCCAGATGAAAGACTCTG 0.458000 8 16 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148903910 148903910 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:148903910C>T uc003wfm.3 + 2 813 c.708C>T c.(706-708)tcC>tcT p.S236S ZNF282_uc011kun.1_Silent_p.S236S|ZNF282_uc003wfn.3_Silent_p.S176S|ZNF282_uc003wfo.3_Silent_p.S176S NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN Homo sapiens zinc finger protein 282 (ZNF282), mRNA. 236 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CCCTCATGTCCCTGGGTAAGG 0.478000 83 19 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52757894 52757894 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:52757894G>A uc001sag.3 - 3 864 c.744C>T c.(742-744)gcC>gcT p.A248A NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 248 Coil 1B.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCTCCACCAGGGCCTCCACAT 0.612000 75 64 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 608545 608545 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:608545C>T uc001lqe.3 + 13 3220 c.3089C>T c.(3088-3090)tCg>tTg p.S1030L PHRF1_uc010qwc.2_Missense_Mutation_p.S1029L|PHRF1_uc010qwd.2_Missense_Mutation_p.S1028L|PHRF1_uc010qwe.2_Missense_Mutation_p.S1026L|PHRF1_uc009ybz.1_Missense_Mutation_p.S820L|PHRF1_uc009yca.2_Non-coding_Transcript NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 1030 Arg-rich. RNA polymerase binding|zinc ion binding p.S1030L(1)|p.S1035L(1) breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GACAGGAGCTCGAGGTCAGCG 0.672000 21 5 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101786 21101786 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:21101786C>T uc001iqi.3 - 23 2827 c.2430G>A c.(2428-2430)agG>agA p.R810R NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.R147R|NEBL_uc021pnu.1_Silent_p.R147R NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 810 regulation of actin filament length actin binding|structural constituent of muscle p.R810K(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GGGTGTTCTTCCTCACTCTCT 0.483000 27 16 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190067866 190067866 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:190067866G>A uc001gse.1 - 7 1815 c.1583C>T c.(1582-1584)tCc>tTc p.S528F FAM5C_uc010pot.1_Missense_Mutation_p.S426F NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 528 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CTTACGCCAGGAGGGATCAAA 0.433000 81 23 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90398923 90398923 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:90398923C>T uc021opq.1 + 0 296 c.296C>T c.(295-297)tCc>tTc p.S99F LRRC8D_uc001dnm.3_Missense_Mutation_p.S99F|LRRC8D_uc001dnn.3_Missense_Mutation_p.S99F NM_018103 NP_060573 Q7L1W4 LRC8D_HUMAN Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA. 99 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) AACGACATTTCCTTTGGGACA 0.498000 20 8 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28723658 28723658 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:28723658C>T uc002kwn.3 - 7 1298 c.1036G>A c.(1036-1038)Gat>Aat p.D346N DSC1_uc002kwm.3_Missense_Mutation_p.D346N NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 346 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TCATTTTCATCCTCAAGTGAA 0.343000 16 7 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389425 117389425 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:117389425C>T uc001prh.1 - 6 1448 c.1446G>A c.(1444-1446)ggG>ggA p.G482G DSCAML1_uc001pri.1_Silent_p.G286G NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 422 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGAACTGCTCCCCGGGGTTGA 0.672000 16 11 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172533400 172533400 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:172533400C>T uc003fii.2 + 21 2452 c.2314C>T c.(2314-2316)Ctt>Ttt p.L772F ECT2_uc010hwv.1_Missense_Mutation_p.L803F|ECT2_uc003fih.2_Missense_Mutation_p.L771F|ECT2_uc003fij.1_Missense_Mutation_p.L772F|ECT2_uc003fik.1_Missense_Mutation_p.L772F|ECT2_uc003fil.1_Missense_Mutation_p.L803F|ECT2_uc003fim.1_Missense_Mutation_p.L71F NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA. 772 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) ATAGGAGAATCTTATTTATAC 0.259000 41 6 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32166772 32166772 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:32166772C>T uc003obb.3 - 23 4605 c.4466G>A c.(4465-4467)cGa>cAa p.R1489Q NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.R152Q|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1489 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CCGAGGCCGTCGAGTGAAACC 0.637000 142 82 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489801 124489801 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:124489801C>T uc001qah.3 + 3 1149 c.1149C>T c.(1147-1149)ctC>ctT p.L383L TBRG1_uc001qak.4_5'Flank|TBRG1_uc001qaj.4_5'Flank|TBRG1_uc009zbf.3_5'Flank|TBRG1_uc001qal.4_5'Flank|TBRG1_uc001qai.2_5'Flank NM_052959 NP_443191 Q96QZ0 PANX3_HUMAN Homo sapiens pannexin 3 (PANX3), mRNA. 383 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) CCAAACACCTCACCAACTCGG 0.423000 33 15 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118065 118065 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrGL000205.1:118065G>A uc002kgk.4 + 0 c.1443G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. AGTTTTGCTCGGGGTCTGTTG 0.572000 71 6 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99362124 99362124 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:99362124T>A uc001vno.3 - 11 1019 c.942A>T c.(940-942)aaA>aaT p.K314N NM_005073 NP_005064 P46059 S15A1_HUMAN Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA. 314 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) AACTTACGATTTTCCCGGACA 0.378000 20 20 0 0 1 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919854 142919854 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142919854G>A uc011ksx.2 + 0 683 c.683G>A c.(682-684)gGa>gAa p.G228E NM_176882 NP_795363 P59535 T2R40_HUMAN Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA. 228 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CTACACATGGGAAGCAATGCC 0.493000 96 26 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181943 57181943 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:57181943C>T uc003hbk.2 + 7 2666 c.2275C>T c.(2275-2277)Ccc>Tcc p.P759S KIAA1211_uc010iha.2_Missense_Mutation_p.P752S|KIAA1211_uc011bzz.1_Missense_Mutation_p.P669S|KIAA1211_uc003hbm.1_Missense_Mutation_p.P645S NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 759 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) AGAGACAGCCCCCCAGCCTCC 0.597000 24 29 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156655310 156655310 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156655310G>A uc003lwo.1 + 6 734 c.652G>A c.(652-654)Gaa>Aaa p.E218K NM_005546 NP_005537 Q08881 ITK_HUMAN Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA. 218 SH3. T cell receptor signaling pathway|cellular defense response|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAACAGGCATGAAGGATATGT 0.284000 T SYK peripheral T-cell lymphoma 21 11 0 0 1 0 0 PRSS37 136242 broad.mit.edu 37 7 141536960 141536960 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:141536960C>T uc003vws.2 - 3 891 c.519G>A c.(517-519)agG>agA p.R173R PRSS37_uc011krl.2_Silent_p.R172R|PRSS37_uc011krk.2_Silent_p.R160R|PRSS37_uc003vwt.2_Silent_p.R160R NM_001008270 NP_001008271 A4D1T9 PRS37_HUMAN Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA. 173 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 ATAAGGAATTCCTGTGGCTTT 0.453000 71 12 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598351 151598351 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:151598351G>A uc003ezf.2 + 2 125 c.20G>A c.(19-21)tGg>tAg p.W7* NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 7 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) CTTTAGGCATGGAATGCAACT 0.393000 47 26 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751055 140751055 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140751055C>T uc003ljw.2 + 0 1094 c.1094C>T c.(1093-1095)gCc>gTc p.A365V PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.A365V|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 368 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V365V(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGGACTGCCGTTGCCCTG 0.408000 12 5 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128645159 128645159 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:128645159G>A uc010lly.2 - 4 1010 c.607C>T c.(607-609)Cgc>Tgc p.R203C TNPO3_uc003vol.2_Missense_Mutation_p.R203C|TNPO3_uc010llz.2_Missense_Mutation_p.R203C|TNPO3_uc003vom.2_Missense_Mutation_p.R137C NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 203 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CCCAAACAGCGAAAAACCTTC 0.323000 81 42 0 0 1 0 0 OR51A4 401666 broad.mit.edu 37 11 4967632 4967632 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:4967632C>T uc010qys.2 - 0 699 c.699G>A c.(697-699)aaG>aaA p.K233K NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K233N(2) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TAAGCTGCTCCTTTTTGGATG 0.468000 30 9 0 0 1 0 0 GATS 352954 broad.mit.edu 37 7 99869515 99869515 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:99869515G>A uc003uua.4 - 0 341 c.92C>T c.(91-93)tCc>tTc p.S31F GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc010lgu.2_Non-coding_Transcript NM_178831 NP_849153 Q8NAP1 GATS_HUMAN Homo sapiens GATS, stromal antigen 3 opposite strand (GATS), transcript variant 1, mRNA. 31 endometrium(2)|large_intestine(2)|lung(4) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGAACAGCGGGATACTCTCCT 0.667000 41 20 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71069075 71069075 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:71069075G>A uc003xyn.1 - 10 1687 c.1525C>T c.(1525-1527)Cct>Tct p.P509S NM_006540 NP_006531 Q15596 NCOA2_HUMAN Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA. 509 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity p.S508F(1) PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CTTCCTGCAGGGGAAAACTGA 0.562000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 32 13 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3072591 3072591 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:3072591G>A uc003bpc.3 + 15 2054 c.1715G>A c.(1714-1716)gGg>gAg p.G572E CNTN4_uc003bpb.1_Missense_Mutation_p.G243E|CNTN4_uc021wsg.1_Missense_Mutation_p.G572E|CNTN4_uc003bpd.1_Missense_Mutation_p.G572E|CNTN4_uc003bpe.3_Missense_Mutation_p.G244E|CNTN4_uc003bpf.3_Missense_Mutation_p.G243E NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 572 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.P572L(1)|p.P572S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGCATGCTGGGAAATATGTC 0.423000 55 22 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182827877 182827877 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:182827877C>T uc001gpr.3 + 9 1085 c.910C>T c.(910-912)Cct>Tct p.P304S DHX9_uc001gps.3_Missense_Mutation_p.P90S NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 304 Interaction with BRCA1. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCCTGAAGATCCTTCTGTGCC 0.398000 29 21 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 396796 396796 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:396796G>A uc002cgp.2 - 1 619 c.230C>T c.(229-231)tCc>tTc p.S77F AXIN1_uc002cgq.2_Missense_Mutation_p.S77F NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 77 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.S77F(4)|p.A76T(4)|p.A76V(3) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TGGGGTGGGGGAGGCACTGCC 0.582000 OREG0003698 type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 6 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55542401 55542401 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:55542401G>A uc003xsd.1 + 3 6107 c.5959G>A c.(5959-5961)Gat>Aat p.D1987N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1987 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.D1987Y(2) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGCCATTGGTGATATATTTGA 0.313000 19 13 0 0 1 0 0 OTC 5009 broad.mit.edu 37 X 38268275 38268275 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:38268275G>A uc004def.4 + 7 1078 c.864G>A c.(862-864)atG>atA p.M288I NM_000531 NP_000522 P00480 OTC_HUMAN Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA. 288 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) AGGTTACAATGAAGGTACAAA 0.423000 9 13 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13886106 13886106 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13886106C>T uc003jfd.2 - 17 2752 c.2710G>A c.(2710-2712)Gag>Aag p.E904K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 904 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) ACACTATTCTCATTGGATATT 0.318000 Kartagener syndrome 26 13 0 0 1 0 0 ZG16B 124220 broad.mit.edu 37 16 2881920 2881920 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:2881920C>T uc002cru.3 + 3 463 c.387C>T c.(385-387)ttC>ttT p.F129F NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA. 129 extracellular region sugar binding central_nervous_system(1)|lung(2)|ovary(1)|prostate(1) 5 TCCAAGCTTTCCTCCGGGGTA 0.547000 25 11 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76799723 76799723 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:76799723G>A uc002jvz.1 - 15 2879 c.2554C>T c.(2554-2556)Ccg>Tcg p.P852S USP36_uc002jwa.1_Missense_Mutation_p.P852S|USP36_uc002jwb.1_Missense_Mutation_p.P464S|USP36_uc002jwc.1_Missense_Mutation_p.P552S|USP36_uc002jvy.1_5'Flank NM_025090 NP_079366 Q9P275 UBP36_HUMAN Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA. 852 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GTGTCCTCCGGGCGcttcttc 0.672000 45 9 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30521683 30521683 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:30521683C>T uc002dyi.4 + 22 2685 c.2509_splice c.e22-1 p.P837_splice ITGAL_uc002dyj.4_Splice_Site_p.P753_splice|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 837 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CACTCCCAGCCCCATAGCCAG 0.557000 108 8 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32230004 32230004 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:32230004G>A uc003jhq.3 - 15 2294 c.2124C>T c.(2122-2124)ttC>ttT p.F708F MTMR12_uc010iuk.3_Silent_p.F654F|MTMR12_uc010iul.3_Silent_p.F598F NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 708 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGAGCAGAGCGAAAGGAAACA 0.572000 33 51 0 0 1 0 0 TCRBV2S1 0 broad.mit.edu 37 7 142334740 142334740 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142334740G>A uc003vzp.2 + 1 217 c.162G>A c.(160-162)ccG>ccA p.P54P TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.P55P|TCRBV2S1_uc022anq.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GTCAGTTCCCGAAACAGAGTC 0.507000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 31 0 0 1 0 0 NEURL 9148 broad.mit.edu 37 10 105330765 105330765 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:105330765C>T uc001kxh.3 + 1 632 c.222C>T c.(220-222)atC>atT p.I74I NEURL_uc021pxn.1_Silent_p.I57I NM_004210 NP_004201 O76050 NEU1A_HUMAN Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA. 74 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding p.Q73H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GCTCCCAGATCCTCATGGACC 0.642000 102 35 0 0 1 0 0 LOXL4 84171 broad.mit.edu 37 10 100011405 100011406 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:100011405_100011406CC>TT uc001kpa.1 - 12 2156_2157 c.2005_2006GG>AA c.(2005-2007)ggc>AAc p.G669N NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA. 669 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GTCCCAGCAGCCTACAGTCACT 0.559000 37 8 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108568012 108568012 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:108568012G>A uc003dxi.1 + 5 359 c.215_splice c.e5-1 p.E72_splice TRAT1_uc010hpx.1_Splice_Site_p.E35_splice NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 72 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 TAATTCCCAAGAACCAATGGA 0.333000 35 7 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134346364 134346364 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:134346364C>T uc004can.4 + 12 2156 c.2101C>T c.(2101-2103)Ccc>Tcc p.P701S PRRC2B_uc010mzj.1_Missense_Mutation_p.P284S|PRRC2B_uc004cao.4_Missense_Mutation_p.P59S NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA. 701 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CGCCCTGCATCCCTCAGGTAA 0.567000 23 10 0 0 1 0 0 OR7C2 26658 broad.mit.edu 37 19 15053156 15053156 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:15053156C>T uc010xoc.2 + 0 856 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_012377 NP_036509 O60412 OR7C2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CATGCTGAACCCCTTCATCTA 0.552000 46 22 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169513575 169513575 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:169513575G>A uc001ggg.1 - 11 2079 c.1934C>T c.(1933-1935)cCc>cTc p.P645L NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 645 F5/8 type A 2.|Plastocyanin-like 4. 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) TCCACGCATGGGGAAGAGGGT 0.463000 41 10 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73422349 73422349 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:73422349C>T uc001xng.3 + 11 1344 c.1124C>T c.(1123-1125)tCt>tTt p.S375F DCAF4_uc010ttr.2_Missense_Mutation_p.S354F|DCAF4_uc001xnj.3_Missense_Mutation_p.S369F|DCAF4_uc001xnh.3_Missense_Mutation_p.S275F|DCAF4_uc010tts.2_Missense_Mutation_p.S315F|DCAF4_uc010ttt.2_Missense_Mutation_p.S161F|DCAF4_uc001xni.3_Missense_Mutation_p.S205F|DCAF4_uc001xnk.3_Missense_Mutation_p.S375F NM_015604 NP_851937 Q8WV16 DCAF4_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA. 375 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GCAGTGACCTCTGTGCGGATC 0.547000 120 51 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115950674 115950674 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:115950674G>A uc004bgs.2 - 12 1424 c.1271C>T c.(1270-1272)tCa>tTa p.S424L FKBP15_uc010muu.1_Missense_Mutation_p.S488L|FKBP15_uc011lxc.1_5'Flank|FKBP15_uc011lxd.1_Missense_Mutation_p.S356L|FKBP15_uc010mut.1_Missense_Mutation_p.S292L|FKBP15_uc004bgt.2_Missense_Mutation_p.S424L NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA. 424 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTTACCCTGTGAGGTCATCTG 0.532000 31 26 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263618 34263618 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:34263618C>T uc002nus.4 + 4 1430 c.925C>T c.(925-927)Ccc>Tcc p.P309S CHST8_uc002nut.4_Missense_Mutation_p.P309S|CHST8_uc002nuu.3_Missense_Mutation_p.P309S NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 309 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) GGTGCGTTTTCCCGAGTTCGT 0.652000 31 10 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114193659 114193659 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:114193659C>T uc001edk.3 + 13 2452 c.2271C>T c.(2269-2271)ccC>ccT p.P757P MAGI3_uc001edh.3_Silent_p.P782P|MAGI3_uc001edi.4_Silent_p.P757P|MAGI3_uc010owm.2_Silent_p.P782P|MAGI3_uc001edj.3_Silent_p.P478P NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 782 Interaction with BAI1.|PDZ 4. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTATTATTCCCCTGGGAGCAG 0.413000 37 9 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7473398 7473398 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7473398G>A uc001qsx.1 + 5 999 c.999G>A c.(997-999)aaG>aaA p.K333K NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 333 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 AAGACCTTAAGAGGTACTTGG 0.463000 14 6 0 0 1 0 0 IL26 55801 broad.mit.edu 37 12 68595678 68595678 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:68595678C>T uc001stx.1 - 4 498 c.463G>A c.(463-465)Gaa>Aaa p.E155K NM_018402 NP_060872 Q9NPH9 IL26_HUMAN Homo sapiens interleukin 26 (IL26), mRNA. 155 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) ATATCCAGTTCACTGATGGCT 0.269000 29 12 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47981686 47981686 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:47981686C>T uc002zjo.2 + 33 4240 c.4057C>T c.(4057-4059)Ccg>Tcg p.P1353S DIP2A_uc011afz.1_Missense_Mutation_p.P1349S|DIP2A_uc002zjs.2_Missense_Mutation_p.P33S|DIP2A_uc002zjt.2_5'Flank NM_015151 NP_055966 Q14689 DIP2A_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA. 1353 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) ACGGGGTTCTCCGCACAGCCT 0.473000 112 43 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039296 248039296 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:248039296C>T uc001ido.3 + 5 1014 c.966C>T c.(964-966)gtC>gtT p.V322V OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 322 B30.2/SPRY. V -> I (in dbSNP:rs1339847). intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGAGGGATGTCCCCAACAACC 0.597000 10 16 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101190185 101190185 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:101190185C>A uc001dti.3 + 3 888 c.667C>A c.(667-669)Ccc>Acc p.P223T VCAM1_uc010ouj.2_Missense_Mutation_p.P161T|VCAM1_uc001dtj.3_Missense_Mutation_p.P223T NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 223 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTCAGTATCACCCAAGAATAC 0.423000 30 17 1.37657e-19 1.40248e-19 1 1 0 ANK3 288 broad.mit.edu 37 10 61844524 61844524 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:61844524C>T uc001jky.3 - 31 4248 c.3910G>A c.(3910-3912)Gaa>Aaa p.E1304K ANK3_uc001jkw.3_Missense_Mutation_p.E438K|ANK3_uc009xpa.3_Missense_Mutation_p.E438K|ANK3_uc001jkx.3_Missense_Mutation_p.E482K|ANK3_uc010qih.2_Missense_Mutation_p.E1305K|ANK3_uc001jkz.4_Missense_Mutation_p.E1298K|ANK3_uc001jla.1_Missense_Mutation_p.E370K|ANK3_uc001jlb.1_Missense_Mutation_p.E822K|ANK3_uc001jkv.3_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1304 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CATATCAATTCTCTGTACAGT 0.393000 42 35 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14216493 14216493 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:14216493C>T uc003ssz.3 - 23 2465 c.2278G>A c.(2278-2280)Ggg>Agg p.G760R DGKB_uc011jxt.2_Missense_Mutation_p.G741R|DGKB_uc003sta.3_Missense_Mutation_p.G760R|DGKB_uc011jxu.2_Missense_Mutation_p.G759R NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 760 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 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) CATGGCTCCCCATCAATTTGC 0.388000 94 29 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 40978546 40978546 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:40978546G>A uc002ony.3 + 1 104 c.18G>A c.(16-18)ggG>ggA p.G6G SPTBN4_uc002onx.3_Silent_p.G6G|SPTBN4_uc002onz.3_Silent_p.G6G NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 6 Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGTACCAGGGGAAGTGGACA 0.602000 17 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769176 13769176 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13769176C>T uc003jfd.2 - 57 9832 c.9790G>A c.(9790-9792)Gac>Aac p.D3264N DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3264 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D3264H(2) 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) TGGGCCCTGTCCTTCACCTTC 0.448000 Kartagener syndrome 177 110 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141248739 141248739 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:141248739G>A uc003llp.3 - 1 415 c.298C>T c.(298-300)Cgc>Tgc p.R100C PCDH1_uc011dbf.2_Missense_Mutation_p.R78C|PCDH1_uc003llq.3_Missense_Mutation_p.R100C NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 100 Cadherin 1. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CCATCCACGCGAAGGTACGGG 0.592000 19 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434109 179434109 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179434109C>T uc021vsy.1 - 274 69271 c.69046G>A c.(69046-69048)Gaa>Aaa p.E23016K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E16711K|TTN_uc021vta.1_Missense_Mutation_p.E16644K|TTN_uc021vtb.1_Missense_Mutation_p.E16519K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23943 Fibronectin type-III 67. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E16644Q(1)|p.E23016Q(1)|p.E16519Q(1)|p.E23014Q(1)|p.E16711Q(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) CTGCTGTTTTCTAATGTAAGC 0.413000 22 48 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996152 140996152 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:140996152C>T uc004fbt.3 + 3 3286 c.2962C>T c.(2962-2964)Ctg>Ttg p.L988L MAGEC1_uc010nsl.2_Silent_p.L55L|MAGEC1_uc022cfi.1_Silent_p.L647L NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 988 MAGE. protein binding p.L988L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGGGTGTCTGAGTGATGA 0.473000 HNSCC(15;0.026) 22 76 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100426 110100426 + Nonsense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:110100426G>T uc003ymz.4 + 0 774 c.685G>T c.(685-687)Gaa>Taa p.E229* NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 229 integral to plasma membrane thyrotropin-releasing hormone receptor activity p.E229*(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) AGATCCTAAAGAAAACTCTAA 0.368000 31 10 7.48243e-07 7.53503e-07 1 1 0 DLX5 1749 broad.mit.edu 37 7 96650194 96650194 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:96650194G>A uc003uon.3 - 2 932 c.724C>T c.(724-726)Ccg>Tcg p.P242S NM_005221 NP_005212 P56178 DLX5_HUMAN Homo sapiens distal-less homeobox 5 (DLX5), mRNA. 242 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TTGGAGGTCGGAGGGTGGGCA 0.657000 47 24 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21555950 21555950 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:21555950A>G uc009yid.3 + 16 1913 c.1760A>G c.(1759-1761)gAg>gGg p.E587G NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.E559G|NELL1_uc001mqf.3_Intron|NELL1_uc010rdo.2_Missense_Mutation_p.E502G|NELL1_uc001mqh.3_Missense_Mutation_p.S169G NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 559 EGF-like 5; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GGAATCATTGAGTGCCACAAC 0.483000 29 27 0 0 1 0 0 WDR18 57418 broad.mit.edu 37 19 990243 990243 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:990243C>T uc002lqm.1 + 3 502 c.476C>T c.(475-477)tCc>tTc p.S159F NM_024100 NP_077005 Q9BV38 WDR18_HUMAN Homo sapiens WD repeat domain 18 (WDR18), mRNA. 159 endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGACCCCTCCAGGATTCCG 0.731000 13 9 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57157076 57157076 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:57157076G>A uc001cyk.4 + 2 317 c.246G>A c.(244-246)gtG>gtA p.V82V NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 82 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GATACCAGGTGATCAGCACTC 0.308000 23 20 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165308 139165308 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:139165308C>T uc003yuy.3 - 12 1581 c.1410G>A c.(1408-1410)atG>atA p.M470I FAM135B_uc003yux.3_Missense_Mutation_p.M371I|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.M32I|FAM135B_uc003yvb.3_Missense_Mutation_p.M32I NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 470 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CATCAGAATCCATTTGGGATG 0.373000 HNSCC(54;0.14) 33 24 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53007540 53007540 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:53007540C>T uc001sas.3 - 4 951 c.916G>A c.(916-918)Gtc>Atc p.V306I NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 306 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TGGGCACGGACCTCAGCAATG 0.582000 83 23 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36673203 36673203 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:36673203G>A uc010lvw.3 + 8 1080 c.993G>A c.(991-993)aaG>aaA p.K331K KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 331 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCAAAGGAAAGAAGTAAGTAG 0.333000 21 10 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139910781 139910781 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:139910781G>A uc004ckm.1 - 20 3203 c.3153C>T c.(3151-3153)tcC>tcT p.S1051S ABCA2_uc022bpy.1_Silent_p.S952S|ABCA2_uc022bpz.1_Silent_p.S1022S|ABCA2_uc011mem.1_Silent_p.S1021S|ABCA2_uc004ckl.1_Silent_p.S952S|ABCA2_uc004ckn.1_Non-coding_Transcript NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 1021 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGCCCAAGAAGGAGACCACCT 0.597000 33 8 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98110406 98110406 + Missense_Mutation SNP G A A rs144759043 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:98110406G>A uc011bgw.2 + 0 897 c.897G>A c.(895-897)atG>atA p.M299I NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA. 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TAAATATTATGAAAAAAATTA 0.259000 38 8 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38343838 38343838 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:38343838C>T uc010qev.2 + 3 908 c.804C>T c.(802-804)ctC>ctT p.L268L ZNF33A_uc001izg.3_Silent_p.L262L|ZNF33A_uc001izh.3_Silent_p.L261L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.L262L NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 261 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GTTCATCCCTCTTGTTCCATC 0.388000 44 15 0 0 1 0 0 IFITM5 387733 broad.mit.edu 37 11 298634 298634 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:298634G>A uc001low.1 - 1 302 c.266C>T c.(265-267)gCc>gTc p.A89V NM_001025295 NP_001020466 A6NNB3 IFM5_HUMAN Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA. 89 multicellular organismal development|regulation of bone mineralization|response to biotic stimulus integral to membrane|plasma membrane lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) CCACATCGCGGCCAGGATGTT 0.647000 28 22 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106064148 106064148 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:106064148G>A uc004emo.3 + 2 448 c.283G>A c.(283-285)Gaa>Aaa p.E95K MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.E95K|TBC1D8B_uc004emn.3_Missense_Mutation_p.E95K NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 95 intracellular Rab GTPase activator activity|calcium ion binding p.E95K(2) NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GGATTGGTTGGAACAAAATAT 0.313000 9 12 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58190315 58190315 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:58190315G>A uc010rkg.2 - 0 472 c.420C>T c.(418-420)gcC>gcT p.A140A NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA. 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A140A(2) NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGGCCAGACAGGCACCTACAC 0.502000 25 7 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123987705 123987705 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:123987705C>T uc003ehg.3 + 4 693 c.566C>T c.(565-567)tCc>tTc p.S189F KALRN_uc010hrv.1_Missense_Mutation_p.S189F|KALRN_uc003ehf.1_Missense_Mutation_p.S189F|KALRN_uc011bjy.1_Missense_Mutation_p.S189F NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 189 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTGCGGCTCTCCCTGGAGGAG 0.617000 25 22 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66062172 66062172 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:66062172G>A uc001dci.3 + 6 1134 c.745G>A c.(745-747)Gat>Aat p.D249N LEPR_uc001dcg.3_Missense_Mutation_p.D249N|LEPR_uc001dch.3_Missense_Mutation_p.D249N|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.D249N|LEPR_uc001dcj.3_Missense_Mutation_p.D249N|LEPR_uc001dck.3_Missense_Mutation_p.D249N NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 249 Fibronectin type-III 1. 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) GGAAATCACAGATGATGGTAA 0.338000 37 9 0 0 1 0 0 SPINT4 391253 broad.mit.edu 37 20 44351096 44351096 + Silent SNP G A A rs8117724 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:44351096G>A uc002xpe.1 + 0 109 c.90G>A c.(88-90)gcG>gcA p.A30A NM_178455 NP_848550 Q6UDR6 SPIT4_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 4 (SPINT4), mRNA. 30 A -> E (in dbSNP:rs16990631). extracellular region serine-type endopeptidase inhibitor activity lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) ATAAAATTGCGGAGAAGATAT 0.398000 39 9 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161049388 161049388 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:161049388C>T uc001fxo.2 - 1 730 c.431G>A c.(430-432)cGa>cAa p.R144Q NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA. 144 Ig-like V-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) ACCCAGCACTCGGAGCCGCAG 0.662000 12 5 0 0 1 0 0 ERGIC1 57222 broad.mit.edu 37 5 172341787 172341787 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:172341787C>T uc003mbw.4 + 4 515 c.321C>T c.(319-321)atC>atT p.I107I ERGIC1_uc003mby.4_Silent_p.I15I|ERGIC1_uc011dfa.2_Silent_p.I52I|ERGIC1_uc003mbz.4_Silent_p.I62I NM_001031711 NP_001026881 Q969X5 ERGI1_HUMAN Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA. 107 ER to Golgi vesicle-mediated transport ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2) 9 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCATGAAGATCCCGCTGAACA 0.572000 29 15 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11942540 11942540 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:11942540C>T uc002msp.1 + 3 705 c.549C>T c.(547-549)tcC>tcT p.S183S ZNF440_uc021upk.1_5'Flank NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN Homo sapiens zinc finger protein 440 (ZNF440), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCTTTATTTCCCATTCAAGTG 0.398000 62 27 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797776 76797776 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:76797776C>T uc003hix.3 - 10 1341 c.984G>A c.(982-984)atG>atA p.M328I PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.M328I NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 328 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTTCTCCTCCATCTGCTTCT 0.522000 37 13 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151170731 151170731 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:151170731C>T uc003ilo.4 + 15 2773 c.2019C>T c.(2017-2019)tcC>tcT p.S673S DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.S656S|DCLK2_uc003iln.4_Silent_p.S655S NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 656 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) ATGATGCCTCCCAGGAGAATA 0.468000 35 17 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587777 247587777 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:247587777C>T uc001icr.3 + 4 1170 c.1032C>T c.(1030-1032)gcC>gcT p.A344A NLRP3_uc001ics.3_Silent_p.A344A|NLRP3_uc001icu.3_Silent_p.A344A|NLRP3_uc001icw.3_Silent_p.A344A|NLRP3_uc001icv.3_Silent_p.A344A|NLRP3_uc010pyw.2_Silent_p.A342A|NLRP3_uc001ict.1_Silent_p.A342A NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 344 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TTCCCGAGGCCTCTCTGCTCA 0.582000 22 32 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71134991 71134991 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:71134991G>A uc003tvy.3 + 7 1301 c.1301G>A c.(1300-1302)aGa>aAa p.R434K WBSCR17_uc003tvz.3_Missense_Mutation_p.R133K NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 434 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.E433D(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GTCTCCGAAAGAAGAGCATTA 0.463000 50 29 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579626 43579626 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:43579626C>T uc002ovr.3 - 2 761 c.589G>A c.(589-591)Gaa>Aaa p.E197K PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 197 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CTGTTGGTTTCGGACAGCTGA 0.498000 169 79 0 0 1 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307305 39307305 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:39307305C>T uc021wwc.1 - 1 832 c.792G>A c.(790-792)ctG>ctA p.L264L CX3CR1_uc021wwa.1_Silent_p.L232L|CX3CR1_uc021wwb.1_Silent_p.L232L|CX3CR1_uc003cjl.3_Silent_p.L232L|CX3CR1_uc021wwd.1_Silent_p.L232L NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 232 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CCAGAAGGATCAGTTTAATGG 0.448000 52 17 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73021965 73021965 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:73021965C>T uc003tyn.1 - 2 486 c.438G>A c.(436-438)gtG>gtA p.V146V MLXIPL_uc003tyk.1_Silent_p.V146V|MLXIPL_uc003tym.1_Silent_p.V146V|MLXIPL_uc003tyl.1_Silent_p.V146V|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.V146V|MLXIPL_uc003tyq.1_5'Flank NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA. 146 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GCAGGGGGGTCACGAAGCCAC 0.682000 OREG0018107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 11 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176863828 176863828 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:176863828C>T uc001glc.3 - 16 3022 c.2810G>A c.(2809-2811)gGa>gAa p.G937E ASTN1_uc001glb.1_Missense_Mutation_p.G937E|ASTN1_uc001gld.1_Missense_Mutation_p.G937E NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 945 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGGGCATCGTCCCTTGCTGTG 0.607000 67 40 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49073883 49073883 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:49073883G>A uc010tgg.2 - 11 1564 c.1273C>T c.(1273-1275)Cgt>Tgt p.R425C RCBTB2_uc001vci.3_Missense_Mutation_p.R396C|RCBTB2_uc010tgh.2_Missense_Mutation_p.R146C|RCBTB2_uc001vch.3_Missense_Mutation_p.R420C|RCBTB2_uc001vcj.3_Missense_Mutation_p.R372C|RCBTB2_uc010acv.1_Non-coding_Transcript NM_001268 NP_001259 O95199 RCBT2_HUMAN Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA. 420 BTB 1. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) AATGACGAACGAAAATGCTCA 0.453000 23 7 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60348314 60348314 + Missense_Mutation SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:60348314C>A uc002izq.2 - 6 573 c.461G>T c.(460-462)aGg>aTg p.R154M TBC1D3P2_uc010woz.2_Intron|DQ571391_uc010wpa.1_5'Flank|DQ581615_uc021ubf.1_5'Flank|DQ575686_uc021ubg.1_5'Flank|DQ580080_uc021ubh.1_5'Flank Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 TATATGCCTCCTTAATGTCCC 0.547000 240 25 9.85521e-28 1.00492e-27 1 1 0 DSG1 1828 broad.mit.edu 37 18 28919773 28919773 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:28919773G>A uc002kwp.3 + 10 1684 c.1472G>A c.(1471-1473)aGg>aAg p.R491K NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 491 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AATGACGACAGGACTAATACA 0.333000 16 30 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863241 6863241 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:6863241C>T uc003gjr.4 + 6 1595 c.1132C>T c.(1132-1134)Cct>Tct p.P378S KIAA0232_uc003gjq.4_Missense_Mutation_p.P378S NM_014743 NP_055558 Q92628 K0232_HUMAN Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA. 378 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 GAGAAAAGATCCTGGGAGCAC 0.443000 89 26 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101844896 101844896 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:101844896C>T uc003uys.4 + 17 2479 c.2352C>T c.(2350-2352)gcC>gcT p.A784A CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.A773A NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 773 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTCCTGAGGCCGGTGCCTCTG 0.682000 145 36 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741276 207741276 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:207741276C>T uc001hfy.3 + 16 2850 c.2710C>T c.(2710-2712)Cca>Tca p.P904S CR1_uc009xcl.1_Missense_Mutation_p.P454S|CR1_uc001hfx.3_Missense_Mutation_p.P1354S|CR1_uc021pij.1_Missense_Mutation_p.P904S|CR1_uc009xck.1_Missense_Mutation_p.P454S NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 904 Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.T904K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CGACCCCCACCCAGACAGAGG 0.537000 171 43 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312248 99312248 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:99312248C>T uc003uru.3 - 7 831 c.728G>A c.(727-729)aGa>aAa p.R243K ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA. 243 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TATAACTTTTCTTGGAAACAC 0.343000 88 18 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740881 30740881 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:30740881C>T uc002dze.1 + 26 6500 c.6115C>T c.(6115-6117)Cag>Tag p.Q2039* SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Nonsense_Mutation_p.Q1834* NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2039 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AAGACTCATCCAGTATGATTG 0.493000 68 20 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24807743 24807743 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:24807743C>T uc001wpb.3 - 3 712 c.502G>A c.(502-504)Gga>Aga p.G168R RIPK3_uc001wpa.3_5'UTR|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_3'UTR NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA. 168 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) TGTGAGCCTCCCTGAAATGTG 0.602000 51 40 0 0 1 0 0 FLRT1 23769 broad.mit.edu 37 11 63885270 63885270 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:63885270G>A uc021qks.1 + 0 1531 c.1531G>A c.(1531-1533)Gag>Aag p.E511K MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E511K NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 483 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 GGTCACCATGGAGACCAGCAA 0.582000 36 12 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92734705 92734705 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92734705G>A uc003umf.3 - 2 976 c.706C>T c.(706-708)Cat>Tat p.H236Y SAMD9_uc003umg.3_Missense_Mutation_p.H236Y|SAMD9_uc022ahg.1_Missense_Mutation_p.H236Y NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 236 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) ACTCCAAAATGAATAGTGCCA 0.393000 113 49 0 0 1 0 0 S100Z 170591 broad.mit.edu 37 5 76173582 76173582 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:76173582C>T uc003kep.1 + 3 555 c.225C>T c.(223-225)ttC>ttT p.F75F S100Z_uc003keq.4_Silent_p.F75F NM_130772 NP_570128 Q8WXG8 S100Z_HUMAN Homo sapiens S100 calcium binding protein Z (S100Z), mRNA. 75 EF-hand 2. calcium ion binding large_intestine(1)|ovary(1) 2 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) TTAATGAATTCGTGGTCATGG 0.378000 38 19 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70064163 70064163 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:70064163G>T uc010kak.3 + 25 3774 c.3498G>T c.(3496-3498)caG>caT p.Q1166H BAI3_uc003pev.4_Missense_Mutation_p.Q1166H|BAI3_uc011dxx.2_Missense_Mutation_p.Q372H NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1166 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C1165F(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAAACTGTCAGGATCCCATCA 0.388000 22 19 1.40151e-16 1.42492e-16 1 1 0 KL 9365 broad.mit.edu 37 13 33635443 33635443 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:33635443C>T uc001uus.3 + 3 2235 c.2227C>T c.(2227-2229)Caa>Taa p.Q743* KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 743 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCCTTTCTCCCAAAAGGACAA 0.483000 26 9 0 0 1 0 0 C8orf80 389643 broad.mit.edu 37 8 27888834 27888834 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:27888834C>T uc003xgm.4 - 14 1977 c.1834G>A c.(1834-1836)Gag>Aag p.E612K NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 612 nucleus GTP binding|GTPase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GTCATTTTCTCCTGCAGGGAC 0.428000 68 17 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32768380 32768380 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:32768380C>T uc001utx.3 + 28 4188 c.3692C>T c.(3691-3693)tCc>tTc p.S1231F FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 1231 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TACACAGGTTCCTACCAACTT 0.428000 29 17 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39772070 39772070 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:39772070C>T uc003axr.3 + 1 1911 c.129C>T c.(127-129)ttC>ttT p.F43F TAB1_uc003axo.4_Silent_p.F117F|TAB1_uc003axq.4_Silent_p.F117F|TAB1_uc003axs.4_Silent_p.F118F NM_006116 NP_006107 Q15750 TAB1_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA. 0 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 TCTGGGCTTTCCTCTGGTTCG 0.632000 183 38 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169158913 169158913 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:169158913A>T uc003irp.3 - 30 4490 c.4198T>A c.(4198-4200)Ttc>Atc p.F1400I NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 1400 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GGTTGCTTGAAGGACAGCAAT 0.358000 23 7 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162306998 162306998 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:162306998C>T uc003iqh.3 - 15 2881 c.2445G>A c.(2443-2445)aaG>aaA p.K815K FSTL5_uc003iqi.3_Silent_p.K814K|FSTL5_uc010iqv.3_Silent_p.K805K NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 815 K -> E (in dbSNP:rs17040982). extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AGAGAGAGTCCTTGGAAGGTG 0.433000 58 22 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9729409 9729409 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:9729409C>T uc002gmd.1 + 0 29 c.29C>T c.(28-30)cCt>cTt p.P10L GLP2R_uc010cog.1_Non-coding_Transcript NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 10 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) AGGGCAGGGCCTGGGAGAGGA 0.642000 2 11 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7830542 7830542 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:7830542C>T uc010dvt.3 + 3 351 c.233C>T c.(232-234)tCc>tTc p.S78F CLEC4M_uc010xjv.1_Missense_Mutation_p.S50F|CLEC4M_uc002mhy.2_Missense_Mutation_p.S22F|CLEC4M_uc002mih.3_Missense_Mutation_p.S78F|CLEC4M_uc010xjw.2_Missense_Mutation_p.S57F|CLEC4M_uc010dvs.3_Missense_Mutation_p.S77F|CLEC4M_uc010xjx.2_Missense_Mutation_p.S50F|CLEC4M_uc002mhz.3_Missense_Mutation_p.S78F|CLEC4M_uc002mic.3_Missense_Mutation_p.S50F|CLEC4M_uc002mia.3_Missense_Mutation_p.S57F NM_001144909 NP_001138381 Q9H2X3 CLC4M_HUMAN Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA. 78 cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 GTCCCCAGCTCCCTAAGTCAG 0.507000 34 29 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6978295 6978295 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:6978295C>T uc002knm.3 - 42 6184 c.6090G>A c.(6088-6090)gcG>gcA p.A2030A LAMA1_uc010wzj.2_Silent_p.A1506A NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2030 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.A2030A(2)|p.A2030V(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTCAGCCCCGCCACGTCCC 0.552000 19 32 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99332660 99332660 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:99332660C>T uc003uru.3 - 0 160 c.57G>A c.(55-57)ctG>ctA p.L19L ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Silent_p.L19L NM_000765 NP_000756 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA. 19 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.L19L(2)|p.L19P(1) autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) AGAGGAGTATCAGGCTGACAG 0.463000 55 41 0 0 1 0 0 DKK2 27123 broad.mit.edu 37 4 107845334 107845334 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:107845334G>A uc003hyi.3 - 3 1262 c.557C>T c.(556-558)tCa>tTa p.S186L DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 186 DKK-type Cys-2. Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) GCAGTCTGATGATCGTAGGCA 0.453000 24 6 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62422069 62422069 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:62422069G>A uc002ygv.2 - 1 243 c.42C>T c.(40-42)taC>taT p.Y14Y ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCAGGTGCCGGTAGTGGGACG 0.567000 21 12 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1157524 1157524 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:1157524C>T uc021qbr.1 + 6 752 c.705C>T c.(703-705)ttC>ttT p.F235F Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 231 VWFD 1. 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) CCATGGAATTCGGGAACCTGC 0.637000 13 3 0 0 1 0 0 MICU1 10367 broad.mit.edu 37 10 74326545 74326545 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:74326545G>A uc001jtb.2 - 1 190 c.7C>T c.(7-9)Cgt>Tgt p.R3C MIR1256_uc021pth.1_Intron NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 3 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding GAGTTCAGACGAAACATCCTG 0.433000 9 3 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617801 54617801 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:54617801G>A uc022adk.1 + 3 977 c.572G>A c.(571-573)cGa>cAa p.R191Q VSTM2A_uc010kzf.3_Missense_Mutation_p.R191Q NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA. 191 extracellular region p.R191Q(2)|p.R190Q(2) endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GCCAACCAACGAACGCACTCC 0.547000 11 3 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131975995 131975995 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:131975995C>T uc002tsn.2 + 0 72 c.20C>T c.(19-21)tCc>tTc p.S7F PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 7 ATP binding GAGGTTGATTCCATGCCGGCT 0.537000 26 37 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587923 68587923 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:68587923G>A uc003dnd.3 + 3 492 c.276G>A c.(274-276)ggG>ggA p.G92G FAM19A1_uc003dne.3_Silent_p.G92G|FAM19A1_uc003dng.3_Silent_p.G92G NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 92 G -> W (in Ref. 3; CAD28501). endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TAGTGATTGGGAAATGGTGGT 0.453000 43 12 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7369506 7369506 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7369506G>A uc002ghc.4 - 2 865 c.615C>T c.(613-615)ccC>ccT p.P205P ZBTB4_uc002ghd.4_Silent_p.P205P NM_001128833 NP_065950 Q9P1Z0 ZBTB4_HUMAN Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA. 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) GCCTGGGCCCGGGCCCAAAGC 0.721000 29 11 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100085872 100085872 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100085872C>T uc003uvd.1 + 3 687 c.528C>T c.(526-528)ttC>ttT p.F176F NYAP1_uc003uve.1_5'UTR NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA. 176 CTGTCTCCTTCGATGAGTCCT 0.657000 98 70 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064799 9064799 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9064799G>A uc002mkp.3 - 2 22851 c.22647C>T c.(22645-22647)acC>acT p.T7549T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7551 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 TCTCTTCAGAGGTGCTGGTCT 0.463000 33 13 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43538391 43538391 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:43538391G>A uc003ovp.3 - 4 680 c.469C>T c.(469-471)Ctt>Ttt p.L157F NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN Homo sapiens exportin 5 (XPO5), mRNA. 157 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGTCGCAAAAGGATAAACATC 0.368000 48 9 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66786546 66786546 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:66786546C>T uc001stk.3 - 16 2265 c.2024G>A c.(2023-2025)aGc>aAc p.S675N GRIP1_uc010sta.1_Missense_Mutation_p.S619N|GRIP1_uc001stj.3_Missense_Mutation_p.S457N|GRIP1_uc001stm.3_Missense_Mutation_p.S675N|GRIP1_uc001stl.1_Missense_Mutation_p.S567N NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 727 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CCCTTTCAAGCTGCTGCTATT 0.438000 64 22 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:29628251A>G uc010ztl.1 + 2 195 c.163A>G c.(163-165)Aat>Gat p.N55D FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.N7D Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 92 14 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 159029457 159029457 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:159029457C>T uc003qrm.4 + 8 1188 c.1177C>T c.(1177-1179)Ctc>Ttc p.L393F TMEM181_uc010kjr.1_Missense_Mutation_p.L224F|DQ586009_uc021zhn.1_5'Flank NM_020823 NP_065874 Q9P2C4 TM181_HUMAN Homo sapiens transmembrane protein 181 (TMEM181), mRNA. 393 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) CGCCCTGCTGCTCTTCTGGCT 0.617000 51 31 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 878596 878596 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:878596A>T uc003jbq.3 - 10 1312 c.1145T>A c.(1144-1146)tTt>tAt p.F382Y BRD9_uc003jbl.3_Missense_Mutation_p.F266Y|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.F329Y|BRD9_uc003jbo.3_Missense_Mutation_p.F286Y|BRD9_uc003jbp.3_Missense_Mutation_p.F43Y|BRD9_uc011cmc.1_Non-coding_Transcript NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA. 382 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACTGGAGAGAAAGGTGACTGG 0.572000 55 7 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135651434 135651434 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:135651434C>T uc003lbn.2 - 2 1036 c.814G>A c.(814-816)Gat>Aat p.D272N TRPC7_uc010jef.2_Missense_Mutation_p.D263N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Intron|TRPC7_uc010jei.2_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 272 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTACAAAATCCTTGCATTGC 0.493000 19 14 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40231720 40231720 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:40231720G>A uc003cka.3 + 9 1566 c.1431G>A c.(1429-1431)agG>agA p.R477R MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R477R|MYRIP_uc010hhw.3_Silent_p.R388R|MYRIP_uc011ayz.2_Silent_p.R290R|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 477 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GGTTGCAGAGGAAGGCCCCCA 0.622000 34 33 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37282875 37282875 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:37282875G>A uc001caz.2 - 12 2012 c.1877C>T c.(1876-1878)tCt>tTt p.S626F GRIK3_uc001cba.1_Missense_Mutation_p.S626F NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 626 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CATCAGCTCAGACCCTGGGCG 0.537000 15 26 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2812342 2812342 + Missense_Mutation SNP C T T rs115253860 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:2812342C>T uc002crk.3 + 10 2362 c.1813C>T c.(1813-1815)Cgg>Tgg p.R605W SRRM2_uc002crj.1_Missense_Mutation_p.R509W|SRRM2_uc002crl.1_Missense_Mutation_p.R605W|SRRM2_uc010bsu.1_Missense_Mutation_p.R509W NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 605 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCGTAGGTCTCGGTCTAGAAC 0.607000 44 21 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62232944 62232944 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:62232944G>A uc002agz.3 - 46 5594 c.5503C>T c.(5503-5505)Cca>Tca p.P1835S VPS13C_uc002aha.3_Missense_Mutation_p.P1792S|VPS13C_uc002ahb.2_Missense_Mutation_p.P1835S|VPS13C_uc002ahc.2_Missense_Mutation_p.P1792S NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 1835 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATGTTGACTGGTTTTAAAATT 0.328000 19 26 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 95013640 95013640 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:95013640C>T uc002btj.3 + 19 2504 c.2439C>T c.(2437-2439)ttC>ttT p.F813F MCTP2_uc010boj.3_Silent_p.F542F|MCTP2_uc010bok.3_Silent_p.F758F|MCTP2_uc002btl.3_Silent_p.F401F NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA. 813 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.F813V(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTTTGTATTTCATTCCACTGC 0.403000 79 70 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119548317 119548317 + Silent SNP G A A rs144781194 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:119548317G>A uc001pwv.3 - 2 853 c.681C>T c.(679-681)atC>atT p.I227I PVRL1_uc001pwu.1_Silent_p.I227I|PVRL1_uc001pww.3_Silent_p.I227I NM_002855 NP_002846 Q15223 PVRL1_HUMAN Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA. 227 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GGTAGTTGACGATGCAGGCCA 0.632000 15 7 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36039616 36039616 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:36039616C>T uc003jjz.2 - 4 1170 c.1038G>A c.(1036-1038)gtG>gtA p.V346V UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 346 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCACAATTTTCACATTTGCAG 0.532000 34 49 0 0 1 0 0 RDBP 7936 broad.mit.edu 37 6 31922212 31922212 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:31922212A>T uc003nyk.3 - 7 954 c.750T>A c.(748-750)gaT>gaA p.D250E RDBP_uc011dot.2_Missense_Mutation_p.D220E NM_002904 NP_002895 P18615 NELFE_HUMAN Homo sapiens RD RNA binding protein (RDBP), mRNA. 250 positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction mitochondrion|nucleoplasm RNA binding|nucleotide binding|protein binding cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1) 9 CAGGGAATGAATCCGACCCTT 0.488000 64 40 0 0 1 0 0 TRIM40 135644 broad.mit.edu 37 6 30114962 30114963 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:30114962_30114963GG>AA uc003npk.2 + 3 1028_1029 c.642_643GG>AA c.(640-645)aaggaa>aaAAaa p.E215K TRIM40_uc003npm.2_Missense_Mutation_p.E186K NM_138700 NP_619645 Q6P9F5 TRI40_HUMAN Homo sapiens tripartite motif containing 40 (TRIM40), mRNA. 215 E -> K (in dbSNP:rs757259). intracellular zinc ion binding ovary(1) 1 GGACGGCCAAGGAATTAGACAC 0.564000 62 43 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513167 99513167 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:99513167G>A uc003dti.1 + 2 553 c.425G>A c.(424-426)gGg>gAg p.G142E MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G141E|COL8A1_uc003dth.1_Missense_Mutation_p.G141E NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 141 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CCAGGTCATGGGATACCTGGA 0.567000 19 3 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 95001533 95001533 + Missense_Mutation SNP C T T rs2375003 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:95001533C>T uc003unt.3 - 3 344 c.319G>A c.(319-321)Gac>Aac p.D107N PON1_uc011kih.2_Intron|PON1_uc011kii.2_Missense_Mutation_p.D155N NM_000940 NP_000931 P27169 PON1_HUMAN Homo sapiens paraoxonase 3 (PON3), mRNA. 108 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) AATTCTTTGTCAAATCCACCA 0.398000 67 11 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20074187 20074188 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:20074187_20074188CC>TT uc002zri.3 + 1 1130_1131 c.701_702CC>TT c.(700-702)gcc>gTT p.A234V DGCR8_uc010grz.3_Missense_Mutation_p.A234V|DGCR8_uc002zrj.3_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 234 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GATGAAGAGGCCTTGAATTTCC 0.470000 77 18 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16060300 16060300 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:16060300C>T uc010obo.2 + 19 3158 c.2931C>T c.(2929-2931)ctC>ctT p.L977L SLC25A34_uc001axb.1_5'Flank NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA. 977 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGGTGGACCTCCCCCACACGG 0.632000 94 16 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27728607 27728607 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:27728607C>T uc002rky.3 + 9 839 c.773C>T c.(772-774)tCc>tTc p.S258F GCKR_uc010ezd.3_Missense_Mutation_p.S258F|GCKR_uc010ylu.2_Missense_Mutation_p.S68F NM_001486 NP_001477 Q14397 GCKR_HUMAN Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA. 258 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) AGCGGCTCCTCCCGGATGAAA 0.547000 11 37 0 0 1 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285197 44285197 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:44285197C>T uc010qfe.1 - 0 669 c.639G>A c.(637-639)caG>caA p.Q213Q Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. CACGACCCCTCTGTGATCCAG 0.458000 23 23 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351399 89351400 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:89351399_89351400GG>AA uc002fmx.1 - 8 2011_2012 c.1550_1551CC>TT c.(1549-1551)tcc>tTT p.S517F ANKRD11_uc002fmy.1_Missense_Mutation_p.S517F|ANKRD11_uc002fnc.1_Missense_Mutation_p.S517F|ANKRD11_uc002fnb.1_Missense_Mutation_p.S474F NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 517 Ser-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGGCAGAGAGGGAGCTGAACAG 0.634000 31 13 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33703977 33703977 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:33703977C>T uc001uuw.3 - 4 963 c.837G>A c.(835-837)ggG>ggA p.G279G STARD13_uc001uuu.3_Silent_p.G271G|STARD13_uc001uuv.3_Silent_p.G161G|STARD13_uc001uux.3_Silent_p.G244G|STARD13_uc010abh.1_Silent_p.G264G|STARD13_uc021rhz.1_Silent_p.G271G|STARD13_uc021ria.1_Silent_p.G161G NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 279 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CACCTGTCCGCCCAGACCCCT 0.552000 41 11 0 0 1 0 0 CRYBB3 1417 broad.mit.edu 37 22 25603032 25603032 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:25603032C>T uc003abo.1 + 5 561 c.489C>T c.(487-489)ttC>ttT p.F163F NM_004076 NP_004067 P26998 CRBB3_HUMAN Homo sapiens crystallin, beta B3 (CRYBB3), mRNA. 163 Beta/gamma crystallin 'Greek key' 4. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 GCTATGAGTTCCCCGGCTACC 0.642000 77 13 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688775 60688775 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:60688775C>T uc002sae.1 - 3 1500 c.1272G>A c.(1270-1272)atG>atA p.M424I BCL11A_uc002sab.3_Missense_Mutation_p.M424I|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.M93I|BCL11A_uc010ypj.2_Missense_Mutation_p.M390I|BCL11A_uc002sad.1_Missense_Mutation_p.M272I|BCL11A_uc002saf.1_Missense_Mutation_p.M390I NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 424 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGTGCGTCTTCATGTGGCGCT 0.652000 T IGH@ B-CLL 29 37 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54935974 54935974 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:54935974G>A uc002iur.3 + 8 1412 c.1232G>A c.(1231-1233)gGa>gAa p.G411E DGKE_uc002ius.1_Missense_Mutation_p.G411E NM_003647 NP_003638 P52429 DGKE_HUMAN Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA. 411 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TTATTCTATGGAACCAAAGAT 0.284000 32 27 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21437856 21437856 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:21437856G>A uc002kuq.3 + 32 4271 c.4185G>A c.(4183-4185)ggG>ggA p.G1395G LAMA3_uc002kur.3_Silent_p.G1395G NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1395 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.S1394S(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGCTTCCGGGTTTTACCGCT 0.502000 30 50 0 0 1 0 0 LALBA 3906 broad.mit.edu 37 12 48963761 48963761 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:48963761G>A uc001rrt.3 - 0 69 c.43C>T c.(43-45)Cct>Tct p.P15S NM_002289 NP_002280 P00709 LALBA_HUMAN Homo sapiens lactalbumin, alpha- (LALBA), mRNA. 15 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 AGGATGGCAGGGAACAGGATG 0.468000 33 22 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21793077 21793077 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:21793077C>T uc001wag.3 + 13 2063 c.2063C>T c.(2062-2064)tCg>tTg p.S688L RPGRIP1_uc001wah.3_Missense_Mutation_p.S330L|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.S153L|RPGRIP1_uc001wak.3_Missense_Mutation_p.S163L|RPGRIP1_uc010aim.3_Missense_Mutation_p.S71L|RPGRIP1_uc001wal.3_Missense_Mutation_p.S47L|RPGRIP1_uc001wam.3_Missense_Mutation_p.S5L NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA. 688 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAGACAGATTCGCTTTTCTTA 0.498000 79 38 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679360 100679360 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:100679360C>T uc003uxp.1 + 2 4716 c.4663C>T c.(4663-4665)Cct>Tct p.P1555S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1555 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGTTCATCTCCTACAACTGC 0.493000 219 69 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121636504 121636504 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:121636504G>A uc003vjy.3 + 8 1392 c.997G>A c.(997-999)Gaa>Aaa p.E333K PTPRZ1_uc011knt.2_Missense_Mutation_p.E333K|PTPRZ1_uc003vjz.3_Missense_Mutation_p.E333K NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 333 Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TGTTACATGGGAAAGACCTCG 0.403000 62 37 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7619109 7619109 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:7619109C>T uc010xjq.2 + 21 2686 c.2446C>T c.(2446-2448)Ctt>Ttt p.L816F PNPLA6_uc002mgq.2_Missense_Mutation_p.L768F|PNPLA6_uc010xjp.2_Missense_Mutation_p.L741F|PNPLA6_uc002mgr.2_Missense_Mutation_p.L768F|PNPLA6_uc002mgs.3_Missense_Mutation_p.L806F NM_001166111 NP_001159583 Q8IY17 PLPL6_HUMAN Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA. 807 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GACGCTACTCCTTAACAGTGA 0.627000 119 49 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188758 32188758 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:32188758G>A uc003obb.3 - 3 935 c.796C>T c.(796-798)Cca>Tca p.P266S NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P266S NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 266 EGF-like 6. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GACACACCTGGGGGACAGAGG 0.652000 78 33 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107315441 107315441 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:107315441C>T uc003vep.3 + 5 876 c.652C>T c.(652-654)Cct>Tct p.P218S Mir_548_uc022ajy.1_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 218 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTTGGCAGATCCTTTGGTTGG 0.408000 Pendred syndrome 128 36 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123780625 123780625 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:123780625T>A uc010nqy.3 - 8 1679 c.1615A>T c.(1615-1617)Aat>Tat p.N539Y ODZ1_uc011muj.2_Missense_Mutation_p.N538Y|ODZ1_uc004euj.3_Missense_Mutation_p.N539Y NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 539 EGF-like 1. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CACTCTCCATTTCCATTGCAA 0.378000 7 11 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45856518 45856518 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:45856518G>A uc002pbj.2 - 17 1787 c.1740C>T c.(1738-1740)gcC>gcT p.A580A ERCC2_uc002pbh.2_Silent_p.A143A|ERCC2_uc002pbi.2_Silent_p.A273A|ERCC2_uc010ejz.2_Silent_p.A502A|ERCC2_uc002pbk.2_Silent_p.A556A NM_000400 NP_000391 P18074 ERCC2_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA. 580 Mediates interaction with MMS19. UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction MMXD complex|cytoplasm|holo TFIIH complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ACTTCTCCAGGGCGACACTGG 0.612000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 12 7 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 396968 396968 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:396968C>T uc021qbk.1 + 3 541 c.512C>T c.(511-513)cCc>cTc p.P171L PKP3_uc001lpc.3_Missense_Mutation_p.P156L NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 156 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCACCCCTCCCATGCCCACC 0.716000 9 3 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76903282 76903282 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:76903282G>A uc001oyb.2 + 30 4383 c.4111G>A c.(4111-4113)Gtg>Atg p.V1371M MYO7A_uc010rsm.1_Missense_Mutation_p.V1360M|MYO7A_uc001oyc.2_Missense_Mutation_p.V1371M|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.V582M NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1371 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CTACCAGCAGGTGGTGCGAGG 0.617000 OREG0021258 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 20 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134664755 134664755 + Missense_Mutation SNP G A A rs150206082 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:134664755G>A uc021qbc.1 - 39 5730 c.5629C>T c.(5629-5631)Ctc>Ttc p.L1877F NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 38 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 ATTTCCACGAGGCCGAGCTTG 0.607000 36 9 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13919390 13919390 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13919390C>T uc003jfd.2 - 6 912 c.870G>A c.(868-870)tgG>tgA p.W290* DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 290 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.W290*(1) 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) GTCTTTTTTTCCAGTGCTCCA 0.527000 Kartagener syndrome 248 49 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2579508 2579508 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:2579508C>T uc010uwc.2 + 9 1361 c.1264C>T c.(1264-1266)Cag>Tag p.Q422* AMDHD2_uc002cqp.3_Nonsense_Mutation_p.Q422*|AMDHD2_uc002cqq.3_Nonsense_Mutation_p.Q392*|AMDHD2_uc010uwd.2_Nonsense_Mutation_p.Q186* NM_001145815 NP_001139287 Q9Y303 NAGA_HUMAN Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA. 392 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CCTTCACGTCCAGGCCACCTA 0.667000 70 62 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43368078 43368078 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:43368078G>A uc002iiw.1 - 1 143 c.34C>T c.(34-36)Cct>Tct p.P12S MAP3K14_uc002iiv.1_5'UTR NM_003954 NP_003945 Q99558 M3K14_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA. 12 I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GCTGAGCCAGGGGCACCTGGG 0.582000 86 11 0 0 1 0 0 ASB1 51665 broad.mit.edu 37 2 239353082 239353082 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:239353082C>T uc002vyg.3 + 3 680 c.594C>T c.(592-594)atC>atT p.I198I NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA. 198 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) CCTTGTACATCAGCGCAGCCT 0.597000 20 8 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7188272 7188272 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:7188272G>A uc003bqm.2 + 1 927 c.653G>A c.(652-654)tGg>tAg p.W218* GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.W218*|GRM7_uc003bql.2_Nonsense_Mutation_p.W218* NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 218 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GCCCTAGGCTGGAATTATGTG 0.522000 57 15 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72222858 72222858 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:72222858G>A uc010iic.3 + 5 801 c.684G>A c.(682-684)ggG>ggA p.G228G SLC4A4_uc003hfy.3_Silent_p.G228G|SLC4A4_uc010iib.3_Silent_p.G228G|SLC4A4_uc003hfz.3_Silent_p.G228G|SLC4A4_uc003hgc.4_Silent_p.G184G|SLC4A4_uc003hga.2_Silent_p.G106G|SLC4A4_uc003hgb.3_Silent_p.G184G NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 228 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CTGACATTGGGAAGACAGTCT 0.463000 71 24 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17669279 17669279 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:17669279G>A uc002zmk.1 - 5 1243 c.1031C>T c.(1030-1032)cCc>cTc p.P344L CECR1_uc010gqu.1_Missense_Mutation_p.P344L|CECR1_uc011agi.1_Missense_Mutation_p.P302L|CECR1_uc002zmj.1_Missense_Mutation_p.P103L NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 344 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATCCTTGGCGGGGATCATCAG 0.602000 43 19 0 0 1 0 0 TIMP2 7077 broad.mit.edu 37 17 76851924 76851924 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:76851924G>A uc002jwf.3 - 4 790 c.488C>T c.(487-489)cCg>cTg p.P163L TIMP2_uc002jwe.3_Missense_Mutation_p.P86L|TIMP2_uc010wty.2_Missense_Mutation_p.P86L NM_003255 NP_003246 P16035 TIMP2_HUMAN Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA. 163 metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) GATGTAGCACGGGATCATGGG 0.637000 79 12 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74282008 74282008 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:74282008G>A uc003hgs.4 + 9 1300 c.1227G>A c.(1225-1227)caG>caA p.Q409Q ALB_uc011cbe.2_Silent_p.Q88Q|ALB_uc003hgw.4_Silent_p.Q217Q|ALB_uc011cbf.2_Silent_p.Q299Q NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 409 Albumin 3. Q -> E (in Ref. 14; AAH14308). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AAGAGCCTCAGAATTTAATCA 0.318000 26 9 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714592 55714592 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:55714592C>T uc010spi.2 + 0 209 c.209C>T c.(208-210)tCg>tTg p.S70L NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TTAGAAATTTCGTTCACAACC 0.378000 28 14 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55582010 55582010 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:55582010G>A uc010qhy.1 - 34 5892 c.5497C>T c.(5497-5499)Cct>Tct p.P1833S PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1828S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1803S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1823S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1786S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1757S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1828S|PCDH15_uc010qia.1_Missense_Mutation_p.P1806S|PCDH15_uc001jju.1_Missense_Mutation_p.P1826S|PCDH15_uc010qib.1_Missense_Mutation_p.P1803S NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1826 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggagggcaaggaatagaagga 0.473000 HNSCC(58;0.16) 30 17 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151124995 151124995 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:151124995C>T uc003ilo.4 + 5 1815 c.1061C>T c.(1060-1062)tCc>tTc p.S354F DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.S337F|DCLK2_uc003iln.4_Missense_Mutation_p.S337F NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 337 Ser-rich. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCTACGAAATCCTCCAGTTCC 0.393000 28 6 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44297166 44297166 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:44297166G>A uc001myb.3 - 1 613 c.509C>T c.(508-510)tCt>tTt p.S170F NM_021926 NP_068745 Q9H161 ALX4_HUMAN Homo sapiens ALX homeobox 4 (ALX4), mRNA. 170 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CACAGTGTCAGAGTCAGGGGG 0.582000 47 11 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011960 160011960 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:160011960G>A uc001fuw.2 - 1 603 c.363C>T c.(361-363)ttC>ttT p.F121F NM_002241 NP_002232 P78508 IRK10_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA. 121 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATTCAAGGGAGAAGAGGAAGG 0.577000 59 37 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5749173 5749173 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:5749173C>T uc002mda.3 + 10 1027 c.966C>T c.(964-966)atC>atT p.I322I CATSPERD_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 322 integral to membrane ATCTGGGCATCGTGCCAAGTT 0.438000 27 15 0 0 1 0 0 ACLY 47 broad.mit.edu 37 17 40065902 40065902 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:40065902G>A uc002hyg.3 - 4 560 c.397C>T c.(397-399)Ctg>Ttg p.L133L ACLY_uc002hyh.3_Silent_p.L133L|ACLY_uc002hyi.3_Silent_p.L187L|ACLY_uc010wfx.2_Silent_p.L187L|ACLY_uc010wfy.2_Intron NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 133 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TGGTGGAACAGGACGTAGTCC 0.572000 57 8 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26943944 26943944 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:26943944G>A uc002hbu.3 - 33 6087 c.5984C>T c.(5983-5985)cCc>cTc p.P1995L SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Non-coding_Transcript|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank NM_014680 NP_055495 Q14667 K0100_HUMAN Homo sapiens KIAA0100 (KIAA0100), mRNA. 1995 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CCCAACAGGGGGCCGAACTTT 0.537000 29 9 0 0 1 0 0 CD2 914 broad.mit.edu 37 1 117311293 117311293 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:117311293C>T uc001egu.4 + 4 973 c.944C>T c.(943-945)cCg>cTg p.P315L NM_001767 NP_001758 P06729 CD2_HUMAN Homo sapiens CD2 molecule (CD2), mRNA. 315 Pro-rich. T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) CCTCCTGCTCCGTCGGGCACA 0.622000 92 22 0 0 1 0 0 DNAJB4 11080 broad.mit.edu 37 1 78479070 78479070 + Nonsense_Mutation SNP C T T rs141666453 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:78479070C>T uc001dij.3 + 1 706 c.547C>T c.(547-549)Cga>Tga p.R183* DNAJB4_uc010orn.2_Nonsense_Mutation_p.R68* NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA. 183 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding p.R183G(2) endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GAAGATTTCTCGAAAAAGGCT 0.398000 40 26 0 0 1 0 0 NOL3 8996 broad.mit.edu 37 16 67208748 67208748 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:67208748G>A uc010vjd.2 + 2 703 c.510G>A c.(508-510)caG>caA p.Q170Q NOL3_uc010vjc.2_Missense_Mutation_p.E174K|NOL3_uc002erp.3_Missense_Mutation_p.E174K NM_001185057 NP_001171986 O60936 NOL3_HUMAN Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA. 170 RNA splicing|anti-apoptosis|apoptosis|mRNA processing cytosol|nucleolus RNA binding|identical protein binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) gccagagccagagctggaacc 0.662000 6 12 0 0 1 0 0 SRCRB4D 136853 broad.mit.edu 37 7 76026867 76026867 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:76026867C>T uc003ufb.3 - 5 1184 c.836G>A c.(835-837)gGc>gAc p.G279D ZP3_uc003ufc.4_5'UTR NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA. 279 SRCR 2. extracellular region|membrane scavenger receptor activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 CTCGTGGTGGCCGCAGTTGTG 0.726000 8 14 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107078521 107078521 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:107078521C>T uc021ser.1 - 135 c.6153G>A Parts of antibodies, mostly variable regions. GACGATCCATCCTATCCACTC 0.522000 24 34 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155102488 155102488 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:155102488C>T uc002tyt.4 + 4 954 c.850C>T c.(850-852)Cct>Tct p.P284S GALNT13_uc002tyr.4_Missense_Mutation_p.P284S|GALNT13_uc010foc.1_Missense_Mutation_p.P103S|GALNT13_uc010fod.3_Missense_Mutation_p.P37S NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 284 Catalytic subdomain B. 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 CAGAACATTACCTGTCAGGTA 0.353000 13 15 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110835658 110835658 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:110835658G>A uc003kph.1 - 5 628 c.544C>T c.(544-546)Cct>Tct p.P182S STARD4_uc010jbw.1_Missense_Mutation_p.P84S|STARD4_uc010jbx.1_Missense_Mutation_p.P84S|STARD4_uc003kpi.1_Non-coding_Transcript NM_139164 NP_631903 Q96DR4 STAR4_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA. 182 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) GCAGACTGAGGAATCATCCCA 0.408000 60 16 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219695588 219695588 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:219695588C>T uc002vjb.1 - 2 129 c.110G>A c.(109-111)tGg>tAg p.W37* PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Nonsense_Mutation_p.W37*|PRKAG3_uc010zko.1_Nonsense_Mutation_p.W37* NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA. 37 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTGATGGCCATGAGCTGCT 0.502000 29 43 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224475589 224475589 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:224475589G>A uc001hok.3 - 13 1744 c.1682C>T c.(1681-1683)tCc>tTc p.S561F NVL_uc001hol.3_Missense_Mutation_p.S455F|NVL_uc010pvd.2_Missense_Mutation_p.S470F|NVL_uc010pve.2_Missense_Mutation_p.S372F|NVL_uc010pvf.2_Non-coding_Transcript NM_002533 NP_002524 O15381 NVL_HUMAN Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA. 561 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TTGGACTGAGGATAGAGCAAC 0.493000 32 4 0 0 1 0 0 BEX1 55859 broad.mit.edu 37 X 102317923 102317923 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:102317923C>T uc022cbj.1 - 0 280 c.280G>A c.(280-282)Gaa>Aaa p.E94K BEX1_uc004ejt.1_Missense_Mutation_p.E94K NM_018476 NP_060946 Q9HBH7 BEX1_HUMAN Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA. 94 cell differentiation|nervous system development cytoplasm|nucleus endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 CTCAGCTTTTCCATCAGCTGT 0.493000 24 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179417578 179417578 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179417578C>T uc021vsy.1 - 283 82570 c.82345G>A c.(82345-82347)Gaa>Aaa p.E27449K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E21144K|TTN_uc021vta.1_Missense_Mutation_p.E21077K|TTN_uc021vtb.1_Missense_Mutation_p.E20952K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28376 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) TCACAGGGTTCCCCAATTCCA 0.428000 8 20 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46398649 46398649 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:46398649C>T uc001ncn.1 + 25 2918 c.2793C>T c.(2791-2793)atC>atT p.I931I DGKZ_uc001nch.2_Silent_p.I759I|DGKZ_uc010rgq.2_Silent_p.I725I|DGKZ_uc010rgr.2_Silent_p.I747I|DGKZ_uc001ncj.2_Silent_p.I709I|DGKZ_uc001nck.2_Silent_p.I521I|DGKZ_uc001ncm.2_Silent_p.I742I|DGKZ_uc001ncl.2_Silent_p.I743I|DGKZ_uc009yky.1_Silent_p.I743I|DGKZ_uc010rgs.1_Silent_p.I720I NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA. 931 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TGACTGAGATCGCACAGGATG 0.652000 34 7 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63221195 63221195 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:63221195C>T uc002jfe.3 + 17 1686 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S RGS9_uc010dem.3_Missense_Mutation_p.P492S|RGS9_uc002jfd.3_Missense_Mutation_p.P492S|RGS9_uc002jfg.3_Missense_Mutation_p.P266S NM_003835 NP_003826 O75916 RGS9_HUMAN Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA. 495 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 TCCTTCTAGCCCCTTCTCCTC 0.647000 220 33 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43972186 43972186 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:43972186G>A uc003bdy.2 - 25 3725 c.3411C>T c.(3409-3411)ttC>ttT p.F1137F EFCAB6_uc003bdz.2_Silent_p.F985F|EFCAB6_uc010gzi.2_Silent_p.F985F|EFCAB6_uc010gzj.1_Silent_p.F363F NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 1137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCTCCTCAAGGAAACAGCTAA 0.313000 41 5 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904339 144904339 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:144904339C>T uc022cfn.1 + 0 396 c.396C>T c.(394-396)ggC>ggT p.G132G SLITRK2_uc004fcd.3_Silent_p.G132G|SLITRK2_uc010nsp.3_Silent_p.G132G|SLITRK2_uc010nso.3_Silent_p.G132G|SLITRK2_uc011mwq.2_Silent_p.G132G|SLITRK2_uc011mwr.2_Silent_p.G132G|SLITRK2_uc011mws.2_Silent_p.G132G|SLITRK2_uc004fcg.3_Silent_p.G132G|SLITRK2_uc011mwt.2_Silent_p.G132G NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 132 integral to membrane p.G132S(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCTTCCTAGGCCTGGAGAGCC 0.502000 12 31 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56435946 56435946 + Silent SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:56435946C>G uc003xsf.3 + 2 1145 c.1113C>G c.(1111-1113)gcC>gcG p.A371A NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 371 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GCTACATGGCCGTCATCATCC 0.587000 42 30 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167245757 167245757 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:167245757G>C uc003fev.1 - 10 1703 c.1399C>G c.(1399-1401)Ctg>Gtg p.L467V WDR49_uc003feu.1_Missense_Mutation_p.L292V|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 467 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GATCTTATCAGAGTTGGGGCC 0.398000 55 14 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86124902 86124902 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:86124902C>T uc002blv.1 + 6 3773 c.3603C>T c.(3601-3603)ctC>ctT p.L1201L AKAP13_uc002blt.1_Silent_p.L1201L|AKAP13_uc002blu.1_Silent_p.L1201L|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 1201 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ACATGGAGCTCTCAGCCCATG 0.587000 41 14 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32148937 32148937 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:32148937G>A uc001btk.1 - 34 2778 c.2413C>T c.(2413-2415)Cag>Tag p.Q805* COL16A1_uc001btj.1_Nonsense_Mutation_p.Q634*|COL16A1_uc001btl.4_Nonsense_Mutation_p.Q805* NM_001856 NP_001847 Q07092 COGA1_HUMAN Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA. 805 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) AGACGTACCTGAATGCCAGGC 0.612000 304 132 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234681093 234681093 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:234681093C>T uc002vuw.3 + 4 1493 c.1493C>T c.(1492-1494)gCc>gTc p.A498V UGT1A1_uc002vup.3_Missense_Mutation_p.A494V|UGT1A1_uc002vur.3_Missense_Mutation_p.A494V|UGT1A1_uc002vus.3_Missense_Mutation_p.A494V|UGT1A1_uc002vut.3_Missense_Mutation_p.A494V|UGT1A1_uc002vuu.3_Missense_Mutation_p.A229V|UGT1A1_uc002vuv.4_Missense_Mutation_p.A496V|UGT1A1_uc002vux.3_Missense_Mutation_p.A498V|UGT1A1_uc002vuy.3_Missense_Mutation_p.A498V|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Missense_Mutation_p.A497V NM_019078 NP_061951 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA. 497 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTCCTCTTGGCCGTCGTGCTG 0.542000 24 49 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10756072 10756072 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:10756072C>T uc003wtk.1 - 2 1343 c.1316G>A c.(1315-1317)cGa>cAa p.R439Q NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 439 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) CATTCGATATCGAGTCCGCCC 0.463000 18 9 0 0 1 0 0 COPS5 10987 broad.mit.edu 37 8 67968826 67968827 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:67968826_67968827GG>AA uc003xxf.3 - 6 894_895 c.721_722CC>TT c.(721-723)cct>TTt p.P241F COPS5_uc003xxd.3_Missense_Mutation_p.P132F|COPS5_uc003xxe.3_Missense_Mutation_p.P196F|COPS5_uc010lyu.1_Non-coding_Transcript|COPS5_uc010lyv.1_Missense_Mutation_p.P196F Q92905 CSN5_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA. 196 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TCCTTCATCAGGAGGTTTGTAG 0.257000 28 14 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9528646 9528646 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:9528646C>T uc002qzh.2 + 21 2694 c.2354C>T c.(2353-2355)cCc>cTc p.P785L ASAP2_uc002qzi.2_Missense_Mutation_p.P785L NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 785 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ACCAGCGCCCCCCCGCTTCCT 0.577000 17 25 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402633 248402633 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:248402633C>T uc010pzh.2 + 0 403 c.403C>T c.(403-405)Ctc>Ttc p.L135F NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) GTACACCATCCTCATGAATCC 0.463000 17 21 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 70992863 70992863 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:70992863C>T uc001jpf.4 + 3 602 c.469C>T c.(469-471)Ccc>Tcc p.P157S HKDC1_uc010qje.2_Missense_Mutation_p.P20S NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 157 Glucose-binding (Potential). glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TTTTTCTTTCCCCTGTCGACA 0.502000 66 20 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21209916 21209916 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:21209916C>T uc002kun.3 - 6 585 c.430_splice c.e6-1 p.D144_splice ANKRD29_uc002kuo.3_Splice_Site_p.D144_splice NM_173505 NP_775776 Q8N6D5 ANR29_HUMAN Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA. 144 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGGCTCCATCCTGAGAGAGAA 0.448000 8 8 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55598348 55598348 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:55598348G>A uc021onw.1 - 30 3660 c.3407C>T c.(3406-3408)tCt>tTt p.S1136F USP24_uc001cyg.4_Missense_Mutation_p.S970F NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA. 1136 Ser-rich. ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TGAGGACTGAGAACTTGATTC 0.383000 23 7 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189022389 189022389 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:189022389A>T uc011cle.1 - 2 523 c.301T>A c.(301-303)Ttt>Att p.F101I TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.F51I|TRIML2_uc011clf.1_Missense_Mutation_p.F101I NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 51 ligase activity p.E100K(2) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATCTTTTTAAAATTTTGTTCC 0.358000 15 9 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004080 187004080 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:187004080C>T uc003iyq.3 + 3 1341 c.1240C>T c.(1240-1242)Cta>Tta p.L414L TLR3_uc011ckz.2_Silent_p.L137L|TLR3_uc003iyr.3_Silent_p.L137L NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 414 I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CATACTCAACCTAACCAAGAA 0.383000 9 5 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128490 152128490 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152128490C>T uc001ezs.1 - 2 1150 c.1085G>A c.(1084-1086)gGc>gAc p.G362D NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 362 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GGAACCCTGGCCTTGTCTGTT 0.478000 370 277 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789526 6789526 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:6789526G>A uc001meq.1 - 0 663 c.663C>T c.(661-663)gtC>gtT p.V221V NM_001004490 NP_001004490 A6NM03 O2AG2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGTGAATAGGACTAGTGTGT 0.498000 15 7 0 0 1 0 0 SEC14L3 266629 broad.mit.edu 37 22 30862971 30862971 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:30862971C>T uc003ahy.3 - 5 606 c.517G>A c.(517-519)Gag>Aag p.E173K SEC14L3_uc003ahz.3_Missense_Mutation_p.E96K|SEC14L3_uc003aia.3_Missense_Mutation_p.E114K|SEC14L3_uc003aib.3_Missense_Mutation_p.E114K NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 173 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CTCCTTACCTCCTGGTACACT 0.502000 36 11 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935963 30935963 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:30935963G>A uc002nsu.1 + 1 1632 c.1494G>A c.(1492-1494)ctG>ctA p.L498L ZNF536_uc010edd.1_Silent_p.L498L NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGCCGCCGCTGAAATCCAGCT 0.667000 45 27 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18537661 18537662 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:18537661_18537662GG>AA uc001mor.3 - 2 317_318 c.177_178CC>TT c.(175-180)atccct>atTTct p.P60S TSG101_uc001mos.2_Missense_Mutation_p.P8S|TSG101_uc009yhs.2_Non-coding_Transcript NM_006292 NP_006283 Q99816 TS101_HUMAN Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA. 60 UEV. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 TAAGGCACAGGGATTGTTCCAG 0.342000 18 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13922221 13922221 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:13922221C>T uc003jfd.2 - 4 697 c.655G>A c.(655-657)Gag>Aag p.E219K DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 219 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) CTCACCTTCTCCTTCAGACTC 0.488000 Kartagener syndrome 15 13 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220354476 220354476 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:220354476C>T uc010fwg.3 + 35 8736 c.8736C>T c.(8734-8736)gcC>gcT p.A2912A NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2912 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CACCACCAGCCCCTGAGCCCC 0.627000 25 69 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27161293 27161293 + Missense_Mutation SNP G A A rs147586444 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:27161293G>A uc010hfk.3 - 13 1484 c.1255C>T c.(1255-1257)Cgt>Tgt p.R419C NEK10_uc010hfj.3_Missense_Mutation_p.R362C Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 1107 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1107C(1)|p.R1060C(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCGGATGAACGATGTAATAAA 0.393000 52 10 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130159278 130159278 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:130159278C>T uc010htj.1 + 34 6590 c.6096C>T c.(6094-6096)ttC>ttT p.F2032F COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Silent_p.F71F|COL6A5_uc010htk.1_Silent_p.F71F NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 2032 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen p.D2031V(1) endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AGTTTGATTTCATCACTTATG 0.418000 28 27 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70539514 70539514 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:70539514G>A uc003xyg.2 + 14 2481 c.1920G>A c.(1918-1920)aaG>aaA p.K640K SULF1_uc010lza.1_Silent_p.K640K|SULF1_uc003xyd.2_Silent_p.K640K|SULF1_uc003xye.2_Silent_p.K640K|SULF1_uc003xyf.2_Silent_p.K640K|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'Flank NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 640 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GAGCGTGGAAGGACCATAAGG 0.453000 19 7 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4157161 4157162 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:4157161_4157162CC>TT uc002lzl.3 + 2 442_443 c.326_327CC>TT c.(325-327)tcc>tTT p.S109F CREB3L3_uc002lzm.3_Missense_Mutation_p.S99F|CREB3L3_uc010xib.2_Missense_Mutation_p.S100F|CREB3L3_uc010xic.2_Missense_Mutation_p.S100F NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA. 109 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCCACCTCCCCCGCCGGCT 0.668000 49 22 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111319064 111319064 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:111319064C>T uc001trv.1 + 6 1012 c.817C>T c.(817-819)Cgc>Tgc p.R273C CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.R233C|CCDC63_uc001trw.1_Missense_Mutation_p.R188C NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 273 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GCTGAATGATCGCAATGAATT 0.517000 12 13 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139601619 139601619 + Missense_Mutation SNP C G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:139601619C>G uc003yvd.3 - 64 5205 c.4758G>C c.(4756-4758)gaG>gaC p.E1586D COL22A1_uc011ljo.2_Missense_Mutation_p.E866D NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1586 Collagen-like 16.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGGTCCTGTCTCCCCTTGAG 0.617000 HNSCC(7;0.00092) 13 12 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123985898 123985898 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:123985898G>A uc001lfv.3 + 12 7986 c.7626G>A c.(7624-7626)ccG>ccA p.P2542P TACC2_uc001lfw.3_Silent_p.P688P|TACC2_uc009xzx.3_Silent_p.P2497P|TACC2_uc010qtv.2_Silent_p.P2546P|TACC2_uc001lfx.3_Silent_p.P246P|TACC2_uc001lfy.3_Silent_p.P242P|TACC2_uc001lfz.3_Silent_p.P620P|TACC2_uc001lga.3_Silent_p.P620P|TACC2_uc009xzy.3_Silent_p.P632P|TACC2_uc001lgb.3_Silent_p.P577P|TACC2_uc010qtw.1_Silent_p.P637P NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 2542 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACGATGCCCCGAAGAAGCAGG 0.537000 18 6 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190616 50190616 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:50190616G>A uc009zlk.2 - 7 1229 c.1027C>T c.(1027-1029)Ctg>Ttg p.L343L NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 339 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCCCCGGCCAGGAAGGCCTGT 0.657000 26 8 0 0 1 0 0 FAM125B 89853 broad.mit.edu 37 9 129154390 129154390 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:129154390C>T uc004bqh.2 + 4 541 c.455C>T c.(454-456)cCa>cTa p.P152L FAM125B_uc004bqg.2_Missense_Mutation_p.P152L|FAM125B_uc011lzy.2_Missense_Mutation_p.P137L|FAM125B_uc010mxd.3_Missense_Mutation_p.P145L|FAM125B_uc011lzz.1_Missense_Mutation_p.P145L NM_033446 NP_258257 Q9H7P6 F125B_HUMAN Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA. 152 MABP. protein transport late endosome membrane kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1) 10 AAATTTATTCCACGGGATTCA 0.453000 120 47 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17085780 17085780 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:17085780G>A uc010ock.2 - 7 1041 c.1041C>T c.(1039-1041)gaC>gaT p.D347D CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 GCCGCACGTCGTCTGTACAAC 0.692000 46 4 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113420516 113420516 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:113420516A>T uc002tib.3 + 10 2493 c.1954A>T c.(1954-1956)Atg>Ttg p.M652L NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA. 652 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 TAACATTTTTATGGCCTGGTT 0.473000 52 21 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544089 186544089 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:186544089C>T uc003iyg.3 - 12 2856 c.2824G>A c.(2824-2826)Gac>Aac p.D942N SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.D928N|SORBS2_uc003iyl.3_Missense_Mutation_p.D828N|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.D732N|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 828 SH3 2. Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.G941E(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CCGCCACGGTCTTGGTGGTGG 0.527000 34 19 0 0 1 0 0 STARD10 10809 broad.mit.edu 37 11 72492130 72492130 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:72492130A>C uc001osy.3 - 1 281 c.97T>G c.(97-99)Ttc>Gtc p.F33V ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Missense_Mutation_p.F33V|STARD10_uc001ota.3_Intron|STARD10_uc001otb.3_Missense_Mutation_p.F33V|MIR4692_uc021qmz.1_5'Flank NM_006645 NP_006636 Q9Y365 PCTL_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA. 33 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) TCTGACCGGAAGCTGCGAAAG 0.642000 70 20 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409857 30409857 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:30409857T>C uc002dya.2 + 1 1662 c.1286T>C c.(1285-1287)tTg>tCg p.L429S ZNF48_uc021tgi.1_Missense_Mutation_p.L429S|ZNF48_uc021tgj.1_Missense_Mutation_p.L306S|ZNF48_uc021tgk.1_Missense_Mutation_p.L429S NM_152652 NP_001201836 Q96MX3 ZNF48_HUMAN Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA. 429 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 CTGCCTGGCTTGGAGCCAGAG 0.697000 29 33 0 0 1 0 0 MYOG 4656 broad.mit.edu 37 1 203054943 203054943 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:203054943G>A uc001gzd.3 - 0 435 c.147C>T c.(145-147)ccC>ccT p.P49P NM_002479 NP_002470 P15173 MYOG_HUMAN Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA. 49 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 TGTCCTCAAGGGGCCCTGGGG 0.657000 76 45 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90400075 90400075 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:90400075C>T uc021opq.1 + 0 1448 c.1448C>T c.(1447-1449)cCc>cTc p.P483L LRRC8D_uc001dnm.3_Missense_Mutation_p.P483L|LRRC8D_uc001dnn.3_Missense_Mutation_p.P483L NM_018103 NP_060573 Q7L1W4 LRC8D_HUMAN Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA. 483 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TCGGGGGTGCCCGATGCTGTC 0.463000 33 9 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167246952 167246952 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:167246952G>A uc003fev.1 - 9 1542 c.1238C>T c.(1237-1239)gCt>gTt p.A413V WDR49_uc003feu.1_Missense_Mutation_p.A238V|WDR49_uc011bpd.1_Missense_Mutation_p.A477V|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN Homo sapiens WD repeat domain 49 (WDR49), mRNA. 413 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CAAAAATTCAGCCAGAAGTTG 0.383000 41 9 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151945268 151945268 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:151945268C>T uc003wla.3 - 13 2470 c.2251G>A c.(2251-2253)Gat>Aat p.D751N NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 751 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TATGAAACATCTTTCACACAA 0.388000 N medulloblastoma 148 8 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239656 1239656 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:1239656T>C uc003jby.2 + 5 947 c.824T>C c.(823-825)tTt>tCt p.F275S NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 275 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACATCGCTTTTGCAAGTTAC 0.577000 84 17 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78444685 78444685 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:78444685C>T uc001syp.3 + 10 2447 c.2274C>T c.(2272-2274)tcC>tcT p.S758S NAV3_uc001syo.3_Silent_p.S758S|NAV3_uc010sub.2_Silent_p.S258S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 758 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S758Y(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ATGCTCCCTCCCTGGGTGCTG 0.582000 HNSCC(70;0.22) 29 4 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417534 40417534 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:40417534G>A uc003ayk.1 + 3 1114 c.1020G>A c.(1018-1020)atG>atA p.M340I NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 340 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 CTGGGGAGATGATGCGCTGGG 0.697000 58 27 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399471 10399471 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10399471C>T uc002gmo.3 - 35 5060 c.4966_splice c.e35-1 p.D1656_splice AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1656 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCTGGGTATCCTGTGGAACAA 0.542000 12 17 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19664914 19664914 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:19664914C>T uc002wrl.3 + 10 1193 c.996C>T c.(994-996)atC>atT p.I332I NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA. 332 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GCCTTCGAATCATGATAACCA 0.547000 14 20 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067633 9067633 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9067633C>T uc002mkp.3 - 2 20017 c.19813G>A c.(19813-19815)Gaa>Aaa p.E6605K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6607 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 GAATAAGATTCCTTTTCAGAA 0.423000 79 34 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458485 142458485 + Silent SNP C T T rs145133152 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142458485C>T uc003wak.2 + 1 137 c.120C>T c.(118-120)tcC>tcT p.S40S TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.P16S|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 40 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACCAGGTGTCCCTGAATTCTG 0.557000 136 6 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52844184 52844184 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:52844184C>T uc004drd.1 + 3 312 c.247C>T c.(247-249)Cct>Tct p.P83S NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN Homo sapiens X antigen family, member 5 (XAGE5), mRNA. 83 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 CGGAGATAGTCCTGATGTCCA 0.423000 4 22 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17086055 17086055 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:17086055G>A uc010ock.2 - 6 842 c.842C>T c.(841-843)tCc>tTc p.S281F CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 GCTGATGTGGGATTTGCGCGT 0.652000 10 6 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122404 12122404 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:12122404C>T uc003nac.3 + 3 2555 c.2376C>T c.(2374-2376)ttC>ttT p.F792F HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 792 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.S791C(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAGATTCTTTCCAGTTTGATT 0.418000 77 12 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187196998 187196998 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:187196998C>T uc003iza.1 + 5 876 c.543C>T c.(541-543)ctC>ctT p.L181L NM_000128 NP_000119 P03951 FA11_HUMAN Homo sapiens coagulation factor XI (F11), mRNA. 181 Apple 2. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TAACGAAGCTCGATAAAGTGG 0.368000 13 7 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364789 30364789 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:30364789G>A uc002dxr.3 - 3 961 c.708C>T c.(706-708)acC>acT p.T236T CD2BP2_uc002dxs.3_Silent_p.T236T NM_001243646 NP_001230575 O95400 CD2B2_HUMAN Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA. 236 assembly of spliceosomal tri-snRNP U5 snRNP|cytoplasm|nucleoplasm protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 GGGGTCCTAGGGTCTGACACC 0.622000 55 13 0 0 1 0 0 IL36A 27179 broad.mit.edu 37 2 113763579 113763579 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:113763579G>A uc010yxr.2 + 1 39 c.39G>A c.(37-39)ggG>ggA p.G13G NM_014440 NP_055255 Q9UHA7 IL36A_HUMAN Homo sapiens interleukin 36, alpha (IL36A), mRNA. 13 immune response|inflammatory response extracellular space cytokine activity|interleukin-1 receptor binding p.Q12*(1) large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2) 9 CTCAGCAGGGGAGCATTCAGG 0.468000 31 18 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87780584 87780584 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:87780584G>A uc003ujn.3 + 19 1845 c.1630G>A c.(1630-1632)Gga>Aga p.G544R ADAM22_uc003ujk.2_Missense_Mutation_p.G544R|ADAM22_uc003ujl.2_Missense_Mutation_p.G544R|ADAM22_uc003ujm.3_Missense_Mutation_p.G544R|ADAM22_uc003ujo.3_Missense_Mutation_p.G544R|ADAM22_uc003ujp.1_Missense_Mutation_p.G596R NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 544 Cys-rich. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AATTTGCTTTGGAGGAAGATG 0.368000 48 18 0 0 1 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74876383 74876383 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:74876383G>A uc001xpx.2 - 1 313 c.65C>T c.(64-66)cCc>cTc p.P22L NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA. 22 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 GTAGGGATAGGGGCCATGGAG 0.667000 18 27 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348330 30348330 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:30348330C>T uc002hgu.3 + 0 176 c.165C>T c.(163-165)ctC>ctT p.L55L LRRC37B_uc010wbx.2_Intron|LRRC37B_uc010csu.3_Silent_p.L55L NM_052888 NP_443120 Q96QE4 LR37B_HUMAN Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA. 55 integral to membrane p.L55F(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CCTCCCATCTCCCATGGGAAT 0.647000 86 21 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131520820 131520820 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:131520820C>T uc021voy.1 + 0 1175 c.1175C>T c.(1174-1176)tCg>tTg p.S392L FAM123C_uc002trw.2_Missense_Mutation_p.S392L|FAM123C_uc010fmv.2_Missense_Mutation_p.S392L|FAM123C_uc010fms.1_Missense_Mutation_p.S392L|FAM123C_uc010fmt.1_Missense_Mutation_p.S392L|FAM123C_uc010fmu.1_Missense_Mutation_p.S392L NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 392 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GATTCCTTCTCGCCAGGACTT 0.622000 10 22 0 0 1 0 0 VNN1 8876 broad.mit.edu 37 6 133013533 133013533 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:133013533G>A uc003qdo.3 - 4 1037 c.1017C>T c.(1015-1017)ttC>ttT p.F339F NM_004666 NP_004657 O95497 VNN1_HUMAN Homo sapiens vanin 1 (VNN1), mRNA. 339 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TGAATTCATCGAAAAAGACAG 0.423000 13 19 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175506 207175506 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:207175506G>T uc002vbp.2 + 4 6504 c.6254G>T c.(6253-6255)aGg>aTg p.R2085M NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA. 2085 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CATTTTAATAGGAGCAACCAA 0.413000 15 20 0.00121646 0.00121997 1 1 0 ODZ2 57451 broad.mit.edu 37 5 167674779 167674779 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:167674779G>A uc010jjd.3 + 26 6808 c.6808G>A c.(6808-6810)Gaa>Aaa p.E2270K ODZ2_uc003lzr.4_Missense_Mutation_p.E2040K|ODZ2_uc003lzt.4_Missense_Mutation_p.E1643K|ODZ2_uc010jje.3_Missense_Mutation_p.E1534K NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGACATCTTCGAATACAATTC 0.542000 32 38 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34003125 34003125 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:34003125G>A uc001bxm.1 - 60 9893 c.9716C>T c.(9715-9717)tCc>tTc p.S3239F CSMD2_uc001bxn.1_Missense_Mutation_p.S3095F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3216 Sushi 26. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGGATGGCAGGAGAAGGAGAC 0.617000 78 24 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981430 70981430 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:70981430C>T uc003xym.3 - 1 868 c.666G>A c.(664-666)gcG>gcA p.A222A NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGCCTGAAATCGCATGGTGCA 0.612000 87 22 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48201518 48201518 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:48201518C>T uc002eff.1 - 27 4295 c.3945G>A c.(3943-3945)ctG>ctA p.L1315L ABCC11_uc002efg.1_Silent_p.L1315L|ABCC11_uc002efh.1_Silent_p.L1277L|ABCC11_uc010cbg.1_Non-coding_Transcript NM_033151 NP_149163 Q96J66 ABCCB_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA. 1315 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGCGCTGGATCAGGGTGTCTG 0.532000 29 23 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919635 12919635 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:12919635C>T uc001aum.1 + 2 462 c.375C>T c.(373-375)ttC>ttT p.F125F NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 125 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGTCCTGCTTCCCAGAGGCCA 0.537000 218 67 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513807 99513808 + Missense_Mutation DNP CT TA TA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:99513807_99513808CT>TA uc003dti.1 + 2 1193_1194 c.1065_1066CT>TA c.(1063-1068)ggcttc>ggTAtc p.F356I MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.F355I|COL8A1_uc003dth.1_Missense_Mutation_p.F355I NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 355 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 GGAAACCAGGCTTCCCAGGACC 0.624000 16 20 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51865141 51865141 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:51865141C>T uc001rys.1 + 13 1907 c.1729C>T c.(1729-1731)Ctt>Ttt p.L577F SLC4A8_uc010sni.2_Missense_Mutation_p.L524F|SLC4A8_uc001rym.3_Missense_Mutation_p.L524F|SLC4A8_uc001ryn.3_Missense_Mutation_p.L524F|SLC4A8_uc001ryo.2_Missense_Mutation_p.L524F|SLC4A8_uc010snj.2_Missense_Mutation_p.L604F|SLC4A8_uc001ryq.4_Missense_Mutation_p.L577F|SLC4A8_uc001ryr.3_Missense_Mutation_p.L577F|SLC4A8_uc010snk.2_Missense_Mutation_p.L524F NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 577 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GTGTATTGTCCTTGTGGCAAC 0.443000 105 27 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7480456 7480456 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:7480456C>T uc003src.1 - 20 1804 c.1687G>A c.(1687-1689)Gga>Aga p.G563R COL28A1_uc011jxe.1_Missense_Mutation_p.G246R|COL28A1_uc003srd.3_Missense_Mutation_p.G118R NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 563 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCCCTCTGTCCTTGATTTCCT 0.398000 63 14 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37618032 37618032 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:37618032C>T uc003onu.1 - 7 2641 c.1462G>A c.(1462-1464)Ggg>Agg p.G488R NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA. 488 Ig-like 5. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 AGGGGCAGCCCCGAGGGCAGC 0.701000 17 9 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924424 188924424 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:188924424G>A uc003izh.1 + 3 871 c.463G>A c.(463-465)Gga>Aga p.G155R ZFP42_uc003izi.1_Missense_Mutation_p.G155R|ZFP42_uc021xvm.1_Missense_Mutation_p.G155R NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 155 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GCTTCCGCCTGGAGGAATACC 0.423000 62 37 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37647194 37647194 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:37647194G>A uc002ofo.1 - 2 367 c.136C>T c.(136-138)Cct>Tct p.P46S ZNF585A_uc002ofm.1_5'UTR|ZNF585A_uc002ofn.1_5'UTR NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTCTGAGAAGGGTCCAGGTGC 0.522000 32 14 0 0 1 0 0 CELF5 60680 broad.mit.edu 37 19 3293438 3293438 + Silent SNP C T T rs142809979 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:3293438C>T uc002lxm.3 + 11 1489 c.1452C>T c.(1450-1452)ccC>ccT p.P484P CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA. 484 mRNA processing cytoplasm|nucleus RNA binding|nucleotide binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 CGGGACACCCCTACTGACCGC 0.687000 23 18 0 0 1 0 0 CDK6 1021 broad.mit.edu 37 7 92244552 92244552 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92244552G>A uc011khw.2 - 7 1295 c.883C>T c.(883-885)Ctg>Ttg p.L295L CDK6_uc010lez.3_Silent_p.L295L NM_001259 NP_001250 Q00534 CDK6_HUMAN Homo sapiens cyclin-dependent kinase 6 (CDK6), transcript variant 1, mRNA. 295 Protein kinase. G1 phase of mitotic cell cycle|cell dedifferentiation|cell division|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GGGTGAGACAGGGCACTGTAG 0.433000 T MLLT10 ALL 54 13 0 0 1 0 0 TMED2 10959 broad.mit.edu 37 12 124071410 124071410 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:124071410C>T uc001ufg.3 + 1 405 c.297C>T c.(295-297)tcC>tcT p.S99S NM_006815 NP_006806 Q15363 TMED2_HUMAN Homo sapiens transmembrane emp24 domain trafficking protein 2 (TMED2), mRNA. 99 GOLD. protein transport|vesicle-mediated transport COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane protein binding kidney(1)|large_intestine(4)|lung(1)|prostate(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745) ACCGGATGTCCACCATGACTC 0.388000 36 15 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153206 105153206 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:105153206C>T uc004emd.3 + 12 1876 c.1573C>T c.(1573-1575)Cag>Tag p.Q525* NRK_uc010npc.1_Nonsense_Mutation_p.Q193* NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 525 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGGTCAAGATCAGGTACCCGA 0.547000 HNSCC(51;0.14) 6 11 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56625136 56625136 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:56625136C>T uc010sqj.2 + 3 335 c.78C>T c.(76-78)gtC>gtT p.V26V SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Silent_p.V26V NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA. 26 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity p.P26S(1) NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGGGCTCAGTCCCCAACCTGG 0.632000 104 32 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051656 96051656 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:96051656C>T uc004ati.1 + 19 4731 c.4731C>T c.(4729-4731)ccC>ccT p.P1577P WNK2_uc011lud.1_Silent_p.P1540P|WNK2_uc004atj.3_Silent_p.P1540P|WNK2_uc004atk.3_Silent_p.P1177P|WNK2_uc004atl.1_Silent_p.P135P NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1577 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GGCCGCCCCCCAGGGTGGGCT 0.692000 19 8 0 0 1 0 0 PPT1 5538 broad.mit.edu 37 1 40544245 40544245 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:40544245G>A uc001cfb.2 - 6 945 c.713C>T c.(712-714)cCt>cTt p.P238L PPT1_uc010ojf.1_Missense_Mutation_p.P188L|PPT1_uc010ojg.1_Missense_Mutation_p.P135L|PPT1_uc009vwa.2_Non-coding_Transcript NM_000310 NP_000301 P50897 PPT1_HUMAN Homo sapiens palmitoyl-protein thioesterase 1 (PPT1), transcript variant 1, mRNA. 238 DNA fragmentation involved in apoptotic nuclear change|brain development|cofactor metabolic process|cofactor transport|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception Golgi apparatus|axon|cytosol|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CGAATCTACAGGGTCCACAAT 0.478000 50 66 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2949728 2949728 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:2949728G>A uc003smv.3 - 23 3550 c.3216C>T c.(3214-3216)atC>atT p.I1072I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 1072 Guanylate kinase-like. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGAAGAGCACGATGGGGTAGA 0.587000 Mis DLBCL 53 52 0 0 1 0 0 SYN3 8224 broad.mit.edu 37 22 33402639 33402639 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:33402639G>A uc003amx.3 - 0 171 c.9C>T c.(7-9)ttC>ttT p.F3F SYN3_uc003amy.3_Silent_p.F3F|SYN3_uc003amz.3_Silent_p.F3F NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 3 A. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GTCGCCGGAGGAAATTCATGG 0.572000 OREG0003521 type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 73 6 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25620815 25620815 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:25620815G>A uc001zaq.3 - 5 927 c.167C>T c.(166-168)tCc>tTc p.S56F UBE3A_uc001zar.3_Missense_Mutation_p.S33F|UBE3A_uc001zas.3_Missense_Mutation_p.S53F|UBE3A_uc001zat.3_Missense_Mutation_p.S33F NM_000462 NP_570853 Q05086 UBE3A_HUMAN Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA. 56 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) AGTTGGACAGGAAGCACAAAA 0.438000 70 13 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324716 7324716 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7324716C>T uc002ggv.3 + 2 747 c.722C>T c.(721-723)cCc>cTc p.P241L SPEM1_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN Homo sapiens spermatid maturation 1 (SPEM1), mRNA. 241 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GTCCCAGCTCCCACCCTGGGC 0.657000 24 9 0 0 1 0 0 CXCR7 57007 broad.mit.edu 37 2 237489510 237489510 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:237489510C>T uc021vys.1 + 0 402 c.402C>T c.(400-402)ttC>ttT p.F134F CXCR7_uc010fyq.3_Silent_p.F134F|CXCR7_uc002vwd.3_Silent_p.F134F NM_020311 NP_064707 P25106 CXCR7_HUMAN Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA. 134 interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(2)|skin(1) 4 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) GCATTTTCTTCCTCACGTGCA 0.567000 61 28 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057925 152057925 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152057925C>T uc001ezo.1 - 2 2298 c.2233G>A c.(2233-2235)Gag>Aag p.E745K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 745 calcium ion binding p.S744*(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCTTCCTCCTCTGATGTTACA 0.463000 81 25 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103348803 103348803 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:103348803G>A uc001dum.3 - 63 5277 c.4959C>T c.(4957-4959)ttC>ttT p.F1653F COL11A1_uc001duk.3_Silent_p.F837F|COL11A1_uc001dul.3_Silent_p.F1641F|COL11A1_uc001dun.3_Silent_p.F1602F|COL11A1_uc009weh.3_Silent_p.F1525F NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1641 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CACCAGATGTGAAATTACAGT 0.368000 46 16 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168833622 168833622 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:168833622C>T uc011bpj.1 - 7 2441 c.2038G>A c.(2038-2040)Ggg>Agg p.G680R MECOM_uc010hwk.1_Missense_Mutation_p.G515R|MECOM_uc003ffj.3_Missense_Mutation_p.G557R|MECOM_uc003ffi.3_Missense_Mutation_p.G492R|MECOM_uc011bpi.1_Missense_Mutation_p.G493R|MECOM_uc003ffn.3_Missense_Mutation_p.G492R|MECOM_uc003ffk.2_Missense_Mutation_p.G492R|MECOM_uc003ffl.2_Missense_Mutation_p.G652R|MECOM_uc011bpk.1_Missense_Mutation_p.G492R|MECOM_uc010hwn.2_Missense_Mutation_p.G680R NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity p.T679T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCTTGCAGCCCCACCAGTCCT 0.428000 68 18 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56031087 56031087 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:56031087A>C uc010spq.2 + 0 412 c.412A>C c.(412-414)Agc>Cgc p.S138R NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CACCCTCTTGAGCCCACGGGC 0.597000 60 14 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103590153 103590153 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:103590153G>A uc003hwg.3 - 9 1384 c.1284C>T c.(1282-1284)ttC>ttT p.F428F MANBA_uc011ces.2_Silent_p.F371F NM_005908 NP_005899 O00462 MANBA_HUMAN Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA. 428 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) CTGAATCCAGGAAGCCCTGAT 0.363000 7 4 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35456345 35456345 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:35456345C>T uc001mwf.3 - 10 1435 c.1392G>A c.(1390-1392)ggG>ggA p.G464G PAMR1_uc001mwg.3_Silent_p.G447G|PAMR1_uc010rew.2_Silent_p.G336G|PAMR1_uc010rex.2_Silent_p.G407G NM_015430 NP_056245 Q6UXH9 PAMR1_HUMAN Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA. 447 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.C463C(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 TCTCAATTTTCCCGCAGACTA 0.512000 34 15 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163393492 163393492 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:163393492C>T uc002uch.2 - 2 635 c.406G>A c.(406-408)Gaa>Aaa p.E136K KCNH7_uc002uci.3_Missense_Mutation_p.E136K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 136 PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GCAGCGTTTTCATTATCCGTC 0.383000 60 28 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52520438 52520438 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr13:52520438G>A uc001vfw.2 - 12 3199 c.3042C>T c.(3040-3042)ccC>ccT p.P1014P ATP7B_uc001vfy.2_Silent_p.P903P|ATP7B_uc010adv.2_Silent_p.P584P|ATP7B_uc001vfx.2_Silent_p.P807P|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Silent_p.P966P|ATP7B_uc010tgv.1_Silent_p.P936P|ATP7B_uc001vfv.2_Silent_p.P286P|ATP7B_uc010tgs.1_Silent_p.P286P NM_000053 NP_000044 P35670 ATP7B_HUMAN Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. 1014 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCATCTCCAGGGGCTTGCCTC 0.592000 Wilson disease 10 4 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52312843 52312843 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:52312843G>A uc001rzj.3 + 8 1604 c.1321G>A c.(1321-1323)Gtg>Atg p.V441M ACVRL1_uc001rzk.3_Missense_Mutation_p.V441M|ACVRL1_uc010snm.2_Missense_Mutation_p.V267M NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 441 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CATGAAGAAGGTGGTGTGTGT 0.577000 61 18 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42338027 42338027 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:42338027C>T uc002igf.4 - 4 474 c.325G>A c.(325-327)Gag>Aag p.E109K SLC4A1_uc021tyc.1_Missense_Mutation_p.E109K NM_000342 NP_000333 P02730 B3AT_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA. 109 bicarbonate transport|cellular ion homeostasis Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CTACGCAGCTCTAGGAGGCTC 0.652000 57 16 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31165421 31165421 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:31165421A>T uc004dda.1 - 74 11012 c.10768T>A c.(10768-10770)Tta>Ata p.L3590I DMD_uc004dcq.1_Missense_Mutation_p.L861I|DMD_uc004dcr.1_Missense_Mutation_p.L1020I|DMD_uc004dcs.1_Missense_Mutation_p.L1020I|DMD_uc004dct.1_Missense_Mutation_p.L1130I|DMD_uc004dcu.1_Missense_Mutation_p.L1130I|DMD_uc004dcv.1_Missense_Mutation_p.L1117I|DMD_uc004dcw.2_Missense_Mutation_p.L2246I|DMD_uc004dcx.2_Missense_Mutation_p.L2249I|DMD_uc004dcz.2_Missense_Mutation_p.L3467I|DMD_uc004dcy.1_Missense_Mutation_p.L3586I|DMD_uc004ddb.1_Missense_Mutation_p.L3582I|DMD_uc004dcp.1_Missense_Mutation_p.L509I|DMD_uc011mkb.1_Missense_Mutation_p.L412I|DMD_uc004dcm.1_Missense_Mutation_p.L522I|DMD_uc004dcn.1_Missense_Mutation_p.L509I|DMD_uc004dco.1_Missense_Mutation_p.L522I NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3590 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGCCTGTGTAACTGTGACTCC 0.473000 16 31 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127682170 127682170 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:127682170C>T uc010hsr.3 + 3 1634 c.1631C>T c.(1630-1632)tCc>tTc p.S544F KBTBD12_uc003ejy.4_Missense_Mutation_p.S151F|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Missense_Mutation_p.S119F|5S_rRNA_uc021xdi.1_5'Flank NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA. 544 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 CGCACCAATTCCACCAATGCA 0.537000 16 4 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189910627 189910627 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:189910627G>A uc002uqk.3 - 45 3483 c.3208C>T c.(3208-3210)Cgt>Tgt p.R1070C COL5A2_uc010frx.3_Missense_Mutation_p.R646C NM_000393 NP_000384 P05997 CO5A2_HUMAN Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA. 1070 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GGGTCTCCACGATCACCCTAA 0.443000 35 11 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90020801 90020801 + Silent SNP G A A rs146417060 byFrequency TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:90020801G>A uc002bnz.2 - 6 1083 c.1059C>T c.(1057-1059)atC>atT p.I353I RHCG_uc002boa.2_Non-coding_Transcript NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Homo sapiens Rh family, C glycoprotein (RHCG), mRNA. 353 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.I353I(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) CAGCACCCACGATGCCGCCTA 0.577000 100 12 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222401 118222401 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:118222401G>A uc004era.4 - 10 2792 c.2792C>T c.(2791-2793)tCa>tTa p.S931L NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 931 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGTGCCCACTGAACTGGTGGG 0.498000 3 21 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168222545 168222545 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:168222545C>T uc010jjg.3 - 9 1394 c.974G>A c.(973-975)gGa>gAa p.G325E SLIT3_uc003mab.3_Missense_Mutation_p.G325E|SLIT3_uc010jji.2_Missense_Mutation_p.G325E|SLIT3_uc003mac.1_Missense_Mutation_p.G122E NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 325 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTGAAGGCTCCTGCAGGGAT 0.478000 69 16 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53941622 53941622 + Silent SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:53941622T>C uc002rxi.4 - 6 1098 c.993A>G c.(991-993)gaA>gaG p.E331E GPR75-ASB3_uc021vhl.1_Silent_p.E220E|GPR75-ASB3_uc002rxg.2_Silent_p.E293E|GPR75-ASB3_uc002rxh.2_Silent_p.E220E|GPR75-ASB3_uc010yoo.2_Silent_p.E210E NM_001164165 NP_665862 Q2TAI4 Q2TAI4_HUMAN Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA. 328 intracellular signal transduction CTAGGCAATCTTCATGTCCCC 0.473000 29 72 0 0 1 0 0 TAB2 23118 broad.mit.edu 37 6 149691194 149691194 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:149691194C>T uc003qmj.3 + 1 239 c.61C>T c.(61-63)Cct>Tct p.P21S TAB2_uc011eec.2_Intron|TAB2_uc010kia.1_Missense_Mutation_p.P21S|TAB2_uc010kib.2_Missense_Mutation_p.P21S|TAB2_uc003qmk.4_Non-coding_Transcript NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA. 21 CUE. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding p.P21R(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ACAAAAATTCCCTGAAGTACC 0.378000 8 9 0 0 1 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81606007 81606007 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:81606007C>T uc003khv.3 + 7 1437 c.112C>T c.(112-114)Ccc>Tcc p.P38S ATP6AP1L_uc003khw.3_Missense_Mutation_p.P38S NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA. 38 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 TGCTGGAAACCCCAGAAGTCT 0.403000 41 11 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103827386 103827386 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:103827386C>T uc001kuj.3 + 0 2263 c.2155C>T c.(2155-2157)Cca>Tca p.P719S NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. 719 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGTGGGGCCCCCAACCCCATT 0.642000 Hermansky-Pudlak syndrome 39 29 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69811088 69811088 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:69811088G>A uc003hef.2 - 1 831 c.800C>T c.(799-801)cCa>cTa p.P267L UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 267 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGTTGGTATGGTTGAGGAAA 0.368000 30 7 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39996589 39996589 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:39996589G>A uc003ayc.3 + 2 413 c.413G>A c.(412-414)gGg>gAg p.G138E CACNA1I_uc003ayd.3_Missense_Mutation_p.G138E|CACNA1I_uc003aye.3_Missense_Mutation_p.G53E|CACNA1I_uc003ayf.3_Missense_Mutation_p.G53E NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 138 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.G138R(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GTGGCCCTGGGGATTTTTGGC 0.562000 38 11 0 0 1 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664110 169664110 + RNA SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:169664110A>G uc011bpp.2 - 1 c.3693T>C Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA. CCTTCCCTTTAGAGAAGAAGC 0.488000 43 7 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113635860 113635860 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:113635860C>T uc001edf.1 + 2 536 c.338C>T c.(337-339)cCg>cTg p.P113L LRIG2_uc009wgn.1_Missense_Mutation_p.P10L NM_014813 NP_055628 O94898 LRIG2_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA. 113 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) ACAGAAATCCCGTATTTTGGA 0.284000 22 9 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55399626 55399626 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55399626C>T uc002qhr.1 + 3 811 c.614C>T c.(613-615)tCc>tTc p.S205F FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.S205F|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Intron|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Intron|FCAR_uc002qhw.1_Missense_Mutation_p.S193F|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Intron|FCAR_uc002qhz.1_Intron|FCAR_uc002qia.1_Missense_Mutation_p.S96F NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 205 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TACCTGTGGTCCTTCCCCAGT 0.602000 11 4 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94397260 94397261 + Silent DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:94397260_94397261CC>TT uc001kic.3 + 15 2426_2427 c.2118_2119CC>TT c.(2116-2121)aaccta>aaTTta p.706_707NL>NL NM_004523 NP_004514 P52732 KIF11_HUMAN Homo sapiens kinesin family member 11 (KIF11), mRNA. 706 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AATGTGGAAACCTAACTGAAGA 0.391000 33 17 0 0 1 0 0 ASIC3 9311 broad.mit.edu 37 7 150749305 150749305 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:150749305G>A uc003wio.2 + 8 1807 c.1439G>A c.(1438-1440)aGg>aAg p.R480K ASIC3_uc003win.2_Missense_Mutation_p.R480K|ASIC3_uc003wip.2_Missense_Mutation_p.R480K|ASIC3_uc003wiq.2_Non-coding_Transcript NM_020321 NP_064717 Q9UHC3 ACCN3_HUMAN Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA. 480 sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity CACTCCCAAAGGCACTCCAGC 0.612000 167 44 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140742014 140742014 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140742014C>T uc003ljs.2 + 0 2312 c.2312C>T c.(2311-2313)aCc>aTc p.T771I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.T771I|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 794 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAACATAACCCCGGAATTG 0.488000 88 29 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31897539 31897539 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:31897539C>T uc002wyw.1 + 15 1582 c.1421C>T c.(1420-1422)tCc>tTc p.S474F NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA. 474 extracellular space lipid binding ACTCCAGCCTCCTTGTGGAAA 0.512000 40 24 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70597897 70597897 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:70597897G>A uc003tvy.3 + 0 109 c.109G>A c.(109-111)Gac>Aac p.D37N NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 37 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GCGCAGCGGAGACGCCTTCCA 0.657000 49 9 0 0 1 0 0 SPINLW1-WFDC6 100526773 broad.mit.edu 37 20 44174380 44174380 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:44174380C>T uc010zxc.2 - 1 190 c.121G>A c.(121-123)Gaa>Aaa p.E41K SPINLW1-WFDC6_uc002xou.3_Missense_Mutation_p.E41K|SPINLW1-WFDC6_uc002xov.2_Missense_Mutation_p.E41K NM_001198986 NP_001185915 A6PVD6 A6PVD6_HUMAN Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA. 41 extracellular region serine-type endopeptidase inhibitor activity TCTTGGAATTCACATTCTTCT 0.448000 109 29 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27216925 27216925 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:27216925C>T uc003nja.3 + 3 399 c.384C>T c.(382-384)agC>agT p.S128S PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.S18S|PRSS16_uc010jqr.1_Silent_p.S18S|PRSS16_uc003njd.3_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 128 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGGTGATAAGCCTGGAACACA 0.592000 72 46 0 0 1 0 0 SNAI1 6615 broad.mit.edu 37 20 48600620 48600620 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:48600620C>T uc002xuz.3 + 1 426 c.342C>T c.(340-342)tcC>tcT p.S114S NM_005985 NP_005976 O95863 SNAI1_HUMAN Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA. 114 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGTCCTTCTCCTCTACTTCAG 0.632000 91 24 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318664 30318664 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:30318664C>T uc009xle.2 - 2 550 c.413G>A c.(412-414)gGa>gAa p.G138E KIAA1462_uc001iux.3_Missense_Mutation_p.G138E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_5'UTR NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 138 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTGGGCCATTCCTCTGGCCTC 0.587000 115 39 0 0 1 0 0 HEATR3 55027 broad.mit.edu 37 16 50118112 50118112 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:50118112C>T uc002efw.3 + 8 1362 c.1200C>T c.(1198-1200)tcC>tcT p.S400S HEATR3_uc021thv.1_3'UTR|HEATR3_uc002efx.3_Silent_p.S314S|HEATR3_uc021thw.1_5'Flank NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA. 400 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TGGAGAATTCCTTCAGTGAGT 0.502000 24 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429135 179429135 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179429135C>T uc021vsy.1 - 274 74245 c.74020G>A c.(74020-74022)Gaa>Aaa p.E24674K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18369K|TTN_uc021vta.1_Missense_Mutation_p.E18302K|TTN_uc021vtb.1_Missense_Mutation_p.E18177K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25601 Fibronectin type-III 79. 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) ACTCTAAATTCATATCTTTGG 0.393000 16 6 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140810583 140810583 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:140810583G>A uc021xsg.1 - 1 2759 c.2007C>T c.(2005-2007)cgC>cgT p.R669R MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 665 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGAAGCAGGCGTTTCTGGT 0.572000 35 13 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99513430 99513430 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:99513430G>A uc003dti.1 + 2 816 c.688G>A c.(688-690)Gga>Aga p.G230R MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G229R|COL8A1_uc003dth.1_Missense_Mutation_p.G229R NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 229 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AGGACCCAAAGGACTACCAGG 0.622000 84 22 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64390376 64390376 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:64390376C>T uc021qkw.1 - 20 4484 c.4022G>A c.(4021-4023)gGg>gAg p.G1341E NRXN2_uc021qkx.1_Missense_Mutation_p.G1271E|NRXN2_uc001oas.3_Missense_Mutation_p.G1271E|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Missense_Mutation_p.G295E|NRXN2_uc001oaq.3_Missense_Mutation_p.G1008E NM_015080 NP_055895 Q9P2S2 NRX2A_HUMAN Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA. 1341 Laminin G-like 6. cell adhesion integral to membrane metal ion binding p.G1341E(2)|p.G295E(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CGGCCCCTCCCCCACCAGGCG 0.672000 10 3 0 0 1 0 0 MTMR9 66036 broad.mit.edu 37 8 11172495 11172495 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:11172495C>T uc003wtm.3 + 6 1433 c.1035C>T c.(1033-1035)tcC>tcT p.S345S MTMR9_uc010lrx.3_Silent_p.S238S|MTMR9_uc011kxa.2_Silent_p.S260S NM_015458 NP_056273 Q96QG7 MTMR9_HUMAN Homo sapiens myotubularin related protein 9 (MTMR9), mRNA. 345 Myotubularin phosphatase. cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) AGGTGACCTCCTTGGCCCAGA 0.468000 50 22 0 0 1 0 0 SEC1 653677 broad.mit.edu 37 19 49183487 49183487 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:49183487G>A uc010xzv.2 + 4 634 c.507G>A c.(505-507)ggG>ggA p.G169G SEC1_uc002pka.3_Silent_p.G129G|SEC1_uc010xzw.2_Silent_p.G86G|SEC1_uc010ema.3_Silent_p.G75G Homo sapiens secretory blood group 1 (SEC1), non-coding RNA. GCCGCCTGGGGAACCAGATGG 0.677000 9 3 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139149502 139149502 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:139149502C>T uc003yuy.3 - 19 4073 c.3902_splice c.e19-1 p.G1301_splice FAM135B_uc003yux.3_Splice_Site_p.G1202_splice|FAM135B_uc003yuz.3_Splice_Site NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1301 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AATACTGCAGCCCTGTAAAAA 0.423000 HNSCC(54;0.14) 31 8 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155591 151155591 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:151155591C>T uc011bod.2 - 5 6758 c.6758G>A c.(6757-6759)aGa>aAa p.R2253K IGSF10_uc011bob.2_Missense_Mutation_p.R280K|IGSF10_uc011boc.2_Missense_Mutation_p.R232K NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 2253 Ig-like C2-type 9. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTGGAATGTCTCACAGCTGT 0.423000 62 36 0 0 1 0 0 CBS 875 broad.mit.edu 37 21 44492152 44492152 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:44492152C>T uc002zcu.2 - 2 397 c.152G>A c.(151-153)aGg>aAg p.R51K CBS_uc002zct.2_Missense_Mutation_p.R51K|CBS_uc002zcw.3_Missense_Mutation_p.R51K|CBS_uc002zcv.2_Missense_Mutation_p.R51K NM_000071 NP_001171480 P35520 CBS_HUMAN Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA. 51 L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CCAGGTGCACCTGCTCGGAGC 0.642000 63 60 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79565452 79565452 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:79565452A>G uc001jzk.3 - 26 5205 c.5135T>C c.(5134-5136)tTt>tCt p.F1712S DLG5_uc001jzi.3_Missense_Mutation_p.F467S|DLG5_uc001jzj.3_Missense_Mutation_p.F1127S|DLG5_uc009xru.1_Non-coding_Transcript NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 1712 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTCACTGGAAAAGGCATCCAA 0.567000 33 30 0 0 1 0 0 STMN4 81551 broad.mit.edu 37 8 27097601 27097601 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:27097601C>T uc011lak.2 - 5 592 c.478G>A c.(478-480)Gaa>Aaa p.E160K STMN4_uc003xfj.3_Missense_Mutation_p.E160K|STMN4_uc011lai.2_Missense_Mutation_p.E160K|STMN4_uc011laj.2_Missense_Mutation_p.E124K|STMN4_uc003xfk.3_Missense_Mutation_p.E133K|STMN4_uc010luo.3_Missense_Mutation_p.E133K NM_030795 NP_110422 Q9H169 STMN4_HUMAN Homo sapiens stathmin-like 4 (STMN4), mRNA. 133 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) TTGTTGTTTTCCTCAATGGCC 0.507000 36 37 0 0 1 0 0 OR51T1 401665 broad.mit.edu 37 11 4904108 4904108 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:4904108G>A uc010qyp.2 + 0 1060 c.1060G>A c.(1060-1062)Gat>Aat p.D354N NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA. 327 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W353L(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGAAGATGGGATTGAAGGTA 0.468000 17 7 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98946518 98946518 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:98946518C>T uc003upx.2 + 4 597 c.436C>T c.(436-438)Ctc>Ttc p.L146F ARPC1A_uc003upy.2_Missense_Mutation_p.L132F|ARPC1A_uc011kit.2_Non-coding_Transcript NM_006409 NP_006400 Q92747 ARC1A_HUMAN Homo sapiens actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A), transcript variant 1, mRNA. 146 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) CTCCACAGTCCTCAGCTTGGA 0.488000 68 19 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039917 29039917 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:29039917C>T uc002kws.3 + 5 736 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 209 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CACCCATGTTCCTCCTAAGCA 0.438000 6 16 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399699 10399699 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:10399699C>T uc002gmo.3 - 33 4918 c.4824G>A c.(4822-4824)gaG>gaA p.E1608E AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1608 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGCTCCTGATCTCAGCATCCA 0.463000 41 67 0 0 1 0 0 CRYBB2 1415 broad.mit.edu 37 22 25623916 25623916 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:25623916G>A uc003abp.1 + 3 318 c.270G>A c.(268-270)agG>agA p.R90R NM_000496 NP_000487 P43320 CRBB2_HUMAN Homo sapiens crystallin, beta B2 (CRYBB2), mRNA. 90 Beta/gamma crystallin 'Greek key' 2. response to stimulus|visual perception structural constituent of eye lens endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GCAGCCGAAGGACGGACTCCC 0.597000 29 27 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902919 22902919 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:22902919C>T uc001bfx.1 + 2 494 c.369C>T c.(367-369)aaC>aaT p.N123N EPHA8_uc001bfw.3_Silent_p.N123N NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 123 N -> K (in a breast infiltrating ductal carcinoma sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity p.N123K(4) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGACCTTCAACCTCTACTACC 0.607000 48 13 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11137451 11137451 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:11137451G>A uc001asa.3 - 15 1900 c.1850C>T c.(1849-1851)cCg>cTg p.P617L EXOSC10_uc001asb.3_Missense_Mutation_p.P617L NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA. 617 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) ATAGCCATCCGGAGGGGCATG 0.522000 107 13 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978389 45978389 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:45978389G>A uc002zfj.1 - 0 255 c.210C>T c.(208-210)ggC>ggT p.G70G TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA. 70 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 AGCTGGTGCAGCCTGACTGGC 0.706000 53 55 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042167 75042167 + Missense_Mutation SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:75042167G>T uc002ayr.1 + 1 152 c.88G>T c.(88-90)Ggt>Tgt p.G30C NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 30 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GGTGCTCAAGGGTTTGAGGCC 0.602000 210 113 1.26781e-57 1.29439e-57 1 1 0 ATF7IP2 80063 broad.mit.edu 37 16 10524487 10524487 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:10524487C>T uc002czw.3 + 1 169 c.10C>T c.(10-12)Cca>Tca p.P4S ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.P4S|ATF7IP2_uc002czv.3_Missense_Mutation_p.P4S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 GATGGCAAGTCCAGATAGAAG 0.323000 19 18 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580245 140580245 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140580245G>A uc003liy.3 + 0 898 c.898G>A c.(898-900)Gaa>Aaa p.E300K NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 300 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAGTCTGGAGAAATTACTTT 0.368000 41 44 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40668655 40668655 + Splice_Site SNP G T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:40668655G>T uc001rmg.4 + 16 1923 c.1802_splice c.e16-1 p.E601_splice LRRK2_uc001rmh.1_Splice_Site_p.E223_splice NM_198578 NP_940980 Q5S007 LRRK2_HUMAN Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA. 601 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TATTTTCCTAGAAATTCAGTG 0.318000 17 7 2.7689e-08 2.7953e-08 1 1 0 RANBP3L 202151 broad.mit.edu 37 5 36301446 36301446 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:36301446C>T uc011cow.2 - 0 566 c.73G>A c.(73-75)Gag>Aag p.E25K RANBP3L_uc003jkh.3_Missense_Mutation_p.E25K NM_001161429 NP_001154901 Q86VV4 RNB3L_HUMAN Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA. 25 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CGCCGGTCCTCCTGCAGCTTC 0.527000 68 83 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52870054 52870054 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:52870054A>T uc003pbh.2 - 14 2282 c.1792T>A c.(1792-1794)Ttc>Atc p.F598I ICK_uc003pbi.2_Missense_Mutation_p.F598I NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 598 FH -> LD (in Ref. 1; AAF37278). intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TGGGTGTGGAAGAATGGTCGC 0.562000 29 18 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1189707 1189707 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:1189707G>A uc003boz.3 + 1 282 c.15G>A c.(13-15)tgG>tgA p.W5* CNTN6_uc010hbo.2_5'UTR|CNTN6_uc011asj.2_Intron|CNTN6_uc003bpa.3_Nonsense_Mutation_p.W5* NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 5 Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGTTGCTATGGAAACTGGTAA 0.348000 65 24 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1849777 1849777 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:1849777C>T uc001aij.2 - 3 300 c.264G>A c.(262-264)caG>caA p.Q88Q TMEM52_uc001aii.2_Silent_p.Q73Q NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN Homo sapiens transmembrane protein 52 (TMEM52), mRNA. 88 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCAGATGTGGCTGGGCCTGTG 0.627000 35 19 0 0 1 0 0 MVK 4598 broad.mit.edu 37 12 110024576 110024576 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:110024576C>T uc001toy.4 + 6 833 c.649C>T c.(649-651)Cat>Tat p.H217Y MVK_uc009zvk.3_Missense_Mutation_p.H217Y|MVK_uc010sxr.2_Missense_Mutation_p.H165Y|MVK_uc001toz.4_Missense_Mutation_p.H23Y|MVK_uc021rdo.1_Missense_Mutation_p.H217Y|MVK_uc001tpc.4_Non-coding_Transcript NM_001114185 NP_001107657 Q03426 KIME_HUMAN Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA. 217 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 CCTCCGATACCATCAAGGGAA 0.507000 42 12 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053615 73053615 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:73053615C>T uc001jro.3 + 12 2551 c.2100C>T c.(2098-2100)ttC>ttT p.F700F UNC5B_uc001jrp.3_Silent_p.F689F NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 700 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGGCCGTCTTCGCCCCCGCCC 0.657000 30 3 0 0 1 0 0 HIF1A 3091 broad.mit.edu 37 14 62207603 62207603 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:62207603G>A uc001xfq.2 + 11 2194 c.1790G>A c.(1789-1791)aGc>aAc p.S597N HIF1A_uc001xfr.2_Missense_Mutation_p.S597N|HIF1A_uc001xfs.2_Missense_Mutation_p.S598N|HIF1A_uc021rua.1_Missense_Mutation_p.S621N NM_001530 NP_001521 Q16665 HIF1A_HUMAN Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA. 597 ID.|ODD. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) AGTCCTCAAAGCACAGTTACA 0.448000 43 22 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38338860 38338860 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:38338860C>T uc003jlc.2 + 2 614 c.268C>T c.(268-270)Ctc>Ttc p.L90F EGFLAM_uc003jlb.2_Missense_Mutation_p.L90F NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 90 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CAGCGTGCCTCTCAGCCGGGA 0.557000 27 7 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38911562 38911562 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:38911562G>A uc021uub.1 - 3 577 c.363C>T c.(361-363)atC>atT p.I121I RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Silent_p.I121I|RASGRP4_uc021uua.1_Silent_p.I121I|RASGRP4_uc021uuc.1_Silent_p.I121I|RASGRP4_uc021uud.1_Silent_p.I121I|RASGRP4_uc021uue.1_Silent_p.I121I|RASGRP4_uc021uuf.1_Silent_p.I121I NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA. 121 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGGTGACAGATCTGCAGCC 0.572000 32 18 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1983503 1983503 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:1983503C>T uc002qxe.3 - 5 874 c.47G>A c.(46-48)gGg>gAg p.G16E MYT1L_uc002qxd.3_Missense_Mutation_p.G16E|MYT1L_uc002qxf.1_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 16 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K15R(1)|p.G16G(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCTCGAACCCCTTTGGACCG 0.597000 16 6 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38321817 38321818 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:38321817_38321818CC>TT uc003aui.3 + 7 1507_1508 c.1232_1233CC>TT c.(1231-1233)gcc>gTT p.A411V NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 411 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GAGGAGGTGGCCCAGCCGAGCC 0.644000 27 10 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40733217 40733217 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:40733217C>T uc002xkg.3 - 24 3716 c.3532G>A c.(3532-3534)Gaa>Aaa p.E1178K PTPRT_uc010ggj.3_Missense_Mutation_p.E1197K|PTPRT_uc010ggi.3_Missense_Mutation_p.E381K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1178 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.E1177*(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACCTGAAATTCATCTTTGATT 0.458000 70 16 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28963254 28963254 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:28963254G>A uc003nlu.2 - 6 2036 c.1525C>T c.(1525-1527)Caa>Taa p.Q509* ZNF311_uc011dlk.1_Nonsense_Mutation_p.Q417*|ZNF311_uc003nlv.2_Nonsense_Mutation_p.Q417* NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN Homo sapiens zinc finger protein 311 (ZNF311), mRNA. 509 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 TGCTTATCTTGGAAGGTTTTC 0.468000 52 11 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68139441 68139441 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:68139441G>A uc003xxo.2 - 26 4237 c.3847C>T c.(3847-3849)Cat>Tat p.H1283Y ARFGEF1_uc003xxl.1_Missense_Mutation_p.H737Y|ARFGEF1_uc003xxn.2_Missense_Mutation_p.H266Y NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 1283 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCAGCTAGATGAAATACAGAG 0.398000 46 30 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732660 92732660 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:92732660G>A uc003umf.3 - 2 3021 c.2751C>T c.(2749-2751)ctC>ctT p.L917L SAMD9_uc003umg.3_Silent_p.L917L|SAMD9_uc022ahg.1_Silent_p.L917L NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 917 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAAAAGAAAAGAGCTTTGCTT 0.348000 37 13 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109028157 109028157 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:109028157C>T uc003dxo.3 - 3 449 c.202G>A c.(202-204)Gag>Aag p.E68K NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 68 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTAAATTGCTCATTTGTTTGA 0.383000 59 22 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885196 29885196 + Missense_Mutation SNP G A A rs56916487 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:29885196G>A uc003afo.3 + 3 1638 c.1567G>A c.(1567-1569)Gag>Aag p.E523K KIAA0845_uc003afp.3_5'Flank NM_021076 NP_066554 P12036 NFH_HUMAN Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA. 523 Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AGTAAAGGAAGAGGCAAAGTC 0.547000 53 10 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096303 51096303 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:51096303C>T uc003tps.3 - 10 2846 c.2661G>A c.(2659-2661)ggG>ggA p.G887G COBL_uc003tpr.4_Silent_p.G830G|COBL_uc011kcl.2_Silent_p.G830G|COBL_uc003tpp.4_Silent_p.G616G|COBL_uc003tpq.4_Silent_p.G771G|COBL_uc003tpo.4_Silent_p.G372G NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 830 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TTCTCCCCTCCCCTAGGGGGT 0.602000 48 25 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45094993 45094993 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:45094993C>T uc002zdk.3 + 5 612 c.498C>T c.(496-498)ttC>ttT p.F166F NM_015056 NP_055871 Q14684 RRP1B_HUMAN Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA. 166 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) GAGTGAGATTCCACTTCATTG 0.527000 85 33 0 0 1 0 0 FAM53C 51307 broad.mit.edu 37 5 137681138 137681138 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:137681138C>T uc003lcv.3 + 3 1231 c.761C>T c.(760-762)tCc>tTc p.S254F FAM53C_uc003lcw.3_Missense_Mutation_p.S254F|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_Missense_Mutation_p.P70S NM_001135647 NP_057689 Q9NYF3 FA53C_HUMAN Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA. 254 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCTCCCGCATCCTCCCCAGAG 0.662000 95 19 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030317 44030317 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:44030317G>A uc002lcb.1 + 4 725 c.674G>A c.(673-675)gGa>gAa p.G225E RNF165_uc002lby.1_Missense_Mutation_p.G158E|RNF165_uc010dnn.1_Missense_Mutation_p.G21E NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN Homo sapiens ring finger protein 165 (RNF165), mRNA. 225 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCTCTCCAGGGACTAAATCCC 0.502000 13 28 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79304855 79304855 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:79304855C>T uc002beq.3 - 13 2216 c.1841G>A c.(1840-1842)gGg>gAg p.G614E RASGRF1_uc002bep.3_Intron|RASGRF1_uc010blm.1_Intron|RASGRF1_uc002ber.4_Intron|RASGRF1_uc010unh.1_Intron NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 614 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ttccctggtcccCTCCCTGGT 0.458000 28 24 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31335980 31335980 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:31335980C>T uc002ebr.3 + 17 2267 c.2169C>T c.(2167-2169)atC>atT p.I723I ITGAM_uc002ebq.3_Silent_p.I722I|ITGAM_uc010can.3_Silent_p.I128I|ITGAM_uc002ebs.1_Silent_p.I128I|ITGAM_uc010vfj.1_5'Flank NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 722 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AGAATTGCATCGAGGACCCAG 0.602000 5 11 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32638596 32638596 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:32638596G>A uc002yow.1 - 4 1165 c.693C>T c.(691-693)tcC>tcT p.S231S TIAM1_uc011adk.1_Silent_p.S231S|TIAM1_uc011adl.1_Silent_p.S231S|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 231 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AGTCACCCAAGGAATTGGCTC 0.562000 30 38 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38993177 38993177 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:38993177G>A uc002oit.3 + 47 7775 c.7645G>A c.(7645-7647)Gcg>Acg p.A2549T RYR1_uc002oiu.3_Missense_Mutation_p.A2549T|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2549 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GATGGCGCTGGCGCTGAACCG 0.652000 16 7 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49699339 49699339 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:49699339C>T uc003cxe.4 + 5 10175 c.10061C>T c.(10060-10062)tCc>tTc p.S3354F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3354 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCTGCCATCTCCTCAAAGCGC 0.577000 43 19 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9361812 9361812 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9361812C>T uc002mlb.1 + 0 93 c.93C>T c.(91-93)ctC>ctT p.L31L NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CAGAATTCCTCCTCCTGGGAC 0.502000 18 6 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505103 159505103 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:159505103C>T uc010piw.2 - 0 695 c.695G>A c.(694-696)gGc>gAc p.G232D NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E231E(1) kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) CTTCTTCCGGCCCTCAGCTGA 0.478000 55 20 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121381620 121381620 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:121381620G>A uc003yox.3 + 46 5472 c.5207G>A c.(5206-5208)gGa>gAa p.G1736E COL14A1_uc003yoz.3_Missense_Mutation_p.G701E NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1736 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGCTCTCCTGGACCAAGAGGC 0.592000 33 15 0 0 1 0 0 LCE1A 353131 broad.mit.edu 37 1 152800119 152800119 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:152800119G>A uc010pdw.2 + 0 171 c.171G>A c.(169-171)ggG>ggA p.G57G NM_178348 NP_848125 Q5T7P2 LCE1A_HUMAN Homo sapiens late cornified envelope 1A (LCE1A), mRNA. 57 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAGCTCTGGGGGCGGCTGCA 0.672000 80 25 0 0 1 0 0 PLEKHA1 59338 broad.mit.edu 37 10 124183730 124183730 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:124183730C>T uc001lge.2 + 8 946 c.697C>T c.(697-699)Cgt>Tgt p.R233C PLEKHA1_uc001lgf.2_Missense_Mutation_p.R233C|PLEKHA1_uc001lgg.2_Missense_Mutation_p.R233C NM_001001974 NP_067635 Q9HB21 PKHA1_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA. 233 PH 2. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAACCTCTTCGTGTAATACC 0.338000 17 4 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41162470 41162470 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:41162470G>A uc010jxm.1 - 2 657 c.478C>T c.(478-480)Cct>Tct p.P160S NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 160 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) GTGGTAAAAGGGGCATCAGGG 0.542000 37 6 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5966815 5966815 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:5966815G>A uc003git.2 - 5 c.1813C>T Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 CCAGGACTCTGAAGACAATGA 0.507000 19 18 0 0 1 0 0 C12orf35 55196 broad.mit.edu 37 12 32137076 32137076 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:32137076C>T uc001rks.3 + 3 3601 c.3187C>T c.(3187-3189)Cct>Tct p.P1063S NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 1063 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AAAAGAGTTTCCTTATGGCAT 0.433000 72 46 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 598398 598398 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:598398C>T uc001lqe.3 + 8 1051 c.920C>T c.(919-921)tCc>tTc p.S307F PHRF1_uc010qwc.2_Missense_Mutation_p.S307F|PHRF1_uc010qwd.2_Missense_Mutation_p.S306F|PHRF1_uc010qwe.2_Missense_Mutation_p.S303F|PHRF1_uc009ybz.1_Missense_Mutation_p.S98F NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 307 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CTCGGGTCTTCCCTGCTGGAT 0.672000 28 8 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106586400 106586400 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:106586400C>T uc021ser.1 - 1811 c.33896G>A abParts_uc001ysv.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. TGTACCAAGCCTCCCCCAGAC 0.542000 34 44 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121342001 121342001 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:121342001C>T uc003eeg.2 + 2 1935 c.1725C>T c.(1723-1725)agC>agT p.S575S NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 575 F-box. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) CTTTAACCAGCCTGCCCCTGG 0.522000 65 21 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158483096 158483096 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:158483096G>A uc003qqx.2 + 7 1133 c.1027G>A c.(1027-1029)Ggt>Agt p.G343S SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.G343S|SYNJ2_uc003qqy.2_Missense_Mutation_p.G106S|SYNJ2_uc011efn.1_Missense_Mutation_p.G271S|SYNJ2_uc010kjo.1_Missense_Mutation_p.G292S|SYNJ2_uc003qqz.2_5'UTR NM_003898 NP_001171559 O15056 SYNJ2_HUMAN Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA. 343 SAC. RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) GTTTGCCAAAGGTGGGAAGCT 0.537000 109 52 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484526 43484526 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:43484526G>A uc003tid.1 + 10 2360 c.1755G>A c.(1753-1755)gcG>gcA p.A585A HECW1_uc011kbi.1_Silent_p.A585A NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 585 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 AGGACGGCGCGGAGGAGGAGT 0.682000 43 13 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590190 156590190 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156590190C>T uc003lwn.3 - 1 1186 c.1086G>A c.(1084-1086)ggG>ggA p.G362G NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 362 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACTGGCGGCCCCCGCCATCG 0.577000 30 7 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135277525 135277525 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:135277525G>A uc004cbl.3 - 1 753 c.684C>T c.(682-684)aaC>aaT p.N228N TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript NM_007344 NP_031370 Q15361 TTF1_HUMAN Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA. 228 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CATATTCCCGGTTACTGGACT 0.493000 23 15 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48823997 48823997 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:48823997C>T uc002isq.3 + 8 1240 c.1072C>T c.(1072-1074)Cga>Tga p.R358* LUC7L3_uc010wmw.2_Nonsense_Mutation_p.R282*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.R358*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.R358* NM_016424 NP_057508 O95232 LC7L3_HUMAN Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA. 358 Arg/Ser-rich. RNA splicing|apoptosis|mRNA processing|response to stress focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AAGCCGGGATCGAAAGTCATA 0.393000 89 13 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861599 52861599 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:52861599C>T uc003gzi.3 - 3 1596 c.1589G>A c.(1588-1590)aGg>aAg p.R530K NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 530 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AATATCATTCCTATGGATGTG 0.507000 73 31 0 0 1 0 0 RDBP 7936 broad.mit.edu 37 6 31922210 31922210 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:31922210G>A uc003nyk.3 - 7 956 c.752C>T c.(751-753)tCa>tTa p.S251L RDBP_uc011dot.2_Missense_Mutation_p.S221L NM_002904 NP_002895 P18615 NELFE_HUMAN Homo sapiens RD RNA binding protein (RDBP), mRNA. 251 positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction mitochondrion|nucleoplasm RNA binding|nucleotide binding|protein binding cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1) 9 TTCAGGGAATGAATCCGACCC 0.483000 63 39 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67064725 67064725 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:67064725C>T uc003xvv.3 + 7 1325 c.1099C>T c.(1099-1101)Cca>Tca p.P367S TRIM55_uc003xvu.3_Missense_Mutation_p.P367S|TRIM55_uc003xvw.3_Missense_Mutation_p.P367S|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 367 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AACAGAGTTTCCAGGAGAAGA 0.502000 29 12 0 0 1 0 0 ASS1 445 broad.mit.edu 37 9 133352336 133352336 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:133352336G>A uc010mza.3 + 9 1412 c.904G>A c.(904-906)Gag>Aag p.E302K ASS1_uc004bzm.3_Missense_Mutation_p.E226K|ASS1_uc004bzn.3_Missense_Mutation_p.E226K NM_054012 NP_446464 P00966 ASSY_HUMAN Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA. 226 M -> V (in CTLN1). arginine biosynthetic process|urea cycle cytosol ATP binding|argininosuccinate synthase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) TCTCGAGATCGAGTTCAAAAA 0.562000 57 29 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50941960 50941960 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:50941960G>A uc003blp.2 - 13 2015 c.1984C>T c.(1984-1986)Cgg>Tgg p.R662W LMF2_uc003blo.2_Missense_Mutation_p.R637W NM_033200 NP_149977 Q9BU23 LMF2_HUMAN Homo sapiens lipase maturation factor 2 (LMF2), mRNA. 662 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGGGAGGACCGGAGAGAACAG 0.687000 20 10 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26587338 26587338 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:26587338C>T uc001mqw.3 - 2 422 c.149G>A c.(148-150)gGa>gAa p.G50E ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.G23E|MUC15_uc001mqy.3_Missense_Mutation_p.G50E NM_001135091 NP_663625 Q8N387 MUC15_HUMAN Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA. 23 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 ATTTTCTTTTCCATGGCTCCC 0.323000 37 8 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156924024 156924024 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156924024G>A uc003lwz.3 - 13 1551 c.1472C>T c.(1471-1473)tCt>tTt p.S491F ADAM19_uc003lww.2_Missense_Mutation_p.S224F|ADAM19_uc003lwy.3_Missense_Mutation_p.S90F|ADAM19_uc011ddr.1_Missense_Mutation_p.S422F NM_033274 NP_150377 Q9H013 ADA19_HUMAN Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA. 491 Disintegrin. proteolysis integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCAGTGGGGAGACTTGCCCGT 0.612000 20 5 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 624314 624314 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:624314C>T uc002cho.3 + 1 378 c.240C>T c.(238-240)ttC>ttT p.F80F PIGQ_uc010bqw.3_Silent_p.F80F|PIGQ_uc002chm.3_Silent_p.F80F|PIGQ_uc002chn.3_Silent_p.F80F|PIGQ_uc010uui.2_Silent_p.F94F NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA. 80 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGGGCCGCTTCCTGGAGAGCC 0.726000 11 8 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421849 62421849 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:62421849C>T uc002ygv.2 - 1 463 c.262G>A c.(262-264)Gac>Aac p.D88N ZBTB46_uc002ygu.3_Non-coding_Transcript NM_025224 NP_079500 Q86UZ6 ZBT46_HUMAN Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA. 88 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) TACATGAAGTCGATGATGGCC 0.602000 21 11 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141304153 141304153 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:141304153C>T uc003lls.3 + 1 161 c.39C>T c.(37-39)ccC>ccT p.P13P KIAA0141_uc003llt.3_Silent_p.P13P NM_001142603 NP_055588 Q14154 DELE_HUMAN Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 13 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCTCTTCCCCGTACACTGG 0.527000 64 13 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158323802 158323802 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:158323802C>T uc001fse.3 + 0 317 c.24C>T c.(22-24)ttC>ttT p.F8F CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_Silent_p.F8F|CD1E_uc001fsh.3_Silent_p.F8F|CD1E_uc001fry.3_Silent_p.F8F|CD1E_uc001fsf.3_Silent_p.F8F|CD1E_uc001fsg.3_Silent_p.F8F|CD1E_uc009wsv.3_Silent_p.F8F|CD1E_uc001fsj.3_Silent_p.F8F|CD1E_uc001fsk.3_Silent_p.F8F|CD1E_uc001fsa.3_Silent_p.F8F|CD1E_uc001fsd.3_Silent_p.F8F|CD1E_uc001frz.3_Silent_p.F8F|CD1E_uc010pig.2_Silent_p.F8F|CD1E_uc001fsc.3_Silent_p.F8F|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 8 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen p.F8L(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCCTCCTCTTCGAGGGTCTCT 0.522000 27 20 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132193153 132193153 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:132193153G>A uc003vra.4 - 1 529 c.300C>T c.(298-300)atC>atT p.I100I PLXNA4_uc003vrc.2_Silent_p.I100I|PLXNA4_uc003vrb.3_Silent_p.I100I NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 100 Sema. integral to membrane|intracellular|plasma membrane p.R99C(1) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGGTCTGGACGATGCGGGGTG 0.557000 44 21 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74806855 74806855 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:74806855G>A uc021ptk.1 - 6 937 c.905C>T c.(904-906)cCt>cTt p.P302L P4HA1_uc010qka.2_Missense_Mutation_p.P302L|P4HA1_uc001jth.3_Missense_Mutation_p.P302L|P4HA1_uc001jtg.3_Missense_Mutation_p.P302L|P4HA1_uc010qkb.2_Missense_Mutation_p.P302L|P4HA1_uc021ptj.1_Missense_Mutation_p.P302L NM_001142595 NP_001136067 P13674 P4HA1_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA. 302 endoplasmic reticulum lumen|mitochondrion L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CTGTCTCCGAGGGGTCTAAAC 0.353000 36 7 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 619591 619591 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:619591G>A uc002lpf.1 - 12 3117 c.3061C>T c.(3061-3063)Ccc>Tcc p.P1021S NM_005035 NP_005026 O00411 RPOM_HUMAN Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA. 1021 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CGCACCTGGGGAAAGTCGCTC 0.637000 55 23 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48313031 48313032 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:48313031_48313032CC>TT uc003toq.2 + 16 3792_3793 c.3768_3769CC>TT c.(3766-3771)tccctt>tcTTtt p.L1257F ABCA13_uc010kyr.2_Missense_Mutation_p.L760F|ABCA13_uc022acp.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1257 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGGAGAAATCCCTTTTCACCAT 0.381000 13 6 0 0 1 0 0 ANKRD20A2 441430 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:95522772T>C uc010fhp.3 - 0 c.49A>G Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. p.E49G(1) large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 GCGCTCCACCTCCGCGGCGTC 0.682000 62 4 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61949486 61949486 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:61949486C>T uc002jch.3 - 4 769 c.654G>A c.(652-654)taG>taA p.*218* CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.*123* NM_020991 NP_066271 P01243 CSH_HUMAN Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA. 0 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 ACGCGGGCACCTAGAAGCCAC 0.582000 36 36 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8436168 8436168 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:8436168G>A uc002mjq.1 + 5 996 c.801G>A c.(799-801)ggG>ggA p.G267G ANGPTL4_uc002mjr.1_Silent_p.G229G|ANGPTL4_uc010xkc.1_Silent_p.G100G NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA. 267 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GCATCACGGGGGACCGCAACA 0.647000 38 14 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57649949 57649949 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:57649949C>T uc002qnz.1 - 2 419 c.33G>A c.(31-33)gaG>gaA p.E11E NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGTGACATCCTCGAAGGTCA 0.483000 34 24 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929481 4929481 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:4929481G>A uc010qyq.2 + 0 882 c.882G>A c.(880-882)aaG>aaA p.K294K NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTGTGTAAAGACTCGACAAA 0.408000 41 31 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58499640 58499640 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:58499640G>A uc002qqw.3 - 5 953 c.335C>T c.(334-336)tCc>tTc p.S112F ZNF606_uc010yhp.2_Missense_Mutation_p.S22F NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN Homo sapiens zinc finger protein 606 (ZNF606), mRNA. 112 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CTCCAACAGGGAGATGACCTC 0.527000 21 6 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186256605 186256605 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:186256605G>A uc003fqe.3 - 2 469 c.417C>T c.(415-417)ttC>ttT p.F139F NM_017541 NP_060011 P22914 CRBS_HUMAN Homo sapiens crystallin, gamma S (CRYGS), mRNA. 139 Beta/gamma crystallin 'Greek key' 4. structural constituent of eye lens p.I138F(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) GTAGCTCATAGAAAATCCAGA 0.532000 29 24 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41106185 41106185 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:41106185C>T uc001zmt.1 + 9 1768 c.1254C>T c.(1252-1254)ctC>ctT p.L418L ZFYVE19_uc001zmu.1_Silent_p.L350L|ZFYVE19_uc001zmv.1_Silent_p.L243L NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA. 418 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) AAGAGGAGCTCCCCTGGTGCT 0.612000 96 25 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38530661 38530661 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:38530661G>A uc003tgu.3 - 4 601 c.385C>T c.(385-387)Cct>Tct p.P129S AMPH_uc003tgv.3_Missense_Mutation_p.P129S NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 129 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.P129S(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TTTATGTCAGGAAATTGCCCC 0.398000 147 27 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12875119 12875119 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:12875119G>A uc002dca.4 - 1 323 c.212C>T c.(211-213)gCc>gTc p.A71V CPPED1_uc002dcb.4_Missense_Mutation_p.A71V NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA. 71 hydrolase activity|metal ion binding p.A71A(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 GGCCTGGACGGCTTGCTCAGT 0.572000 19 9 0 0 1 0 0 CDC42 998 broad.mit.edu 37 1 22412950 22412950 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:22412950G>A uc001bfq.3 + 4 489 c.197G>A c.(196-198)aGa>aAa p.R66K CDC42_uc009vqg.1_Missense_Mutation_p.R66K|CDC42_uc001bfp.3_Missense_Mutation_p.R66K|CDC42_uc009vqh.3_Missense_Mutation_p.R25K|CDC42_uc001bfr.3_Missense_Mutation_p.R66K|CDC42_uc010odr.2_Missense_Mutation_p.R111K|CDC42_uc010ods.2_Missense_Mutation_p.R108K NM_001039802 NP_001782 P60953 CDC42_HUMAN Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA. 66 T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) GATTATGACAGATTACGACCG 0.378000 69 15 0 0 1 0 0 IL32 9235 broad.mit.edu 37 16 3119355 3119355 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:3119355G>A uc002ctq.3 + 5 799 c.704G>A c.(703-705)tGa>tAa p.*235* IL32_uc002ctn.3_Silent_p.*189*|IL32_uc002ctk.3_Silent_p.*132*|IL32_uc002cto.3_Silent_p.*235*|IL32_uc010uwp.2_Silent_p.*169*|IL32_uc010btb.3_Silent_p.*179*|IL32_uc002ctl.3_Silent_p.*189*|IL32_uc002ctm.3_Silent_p.*189*|IL32_uc002ctp.3_Silent_p.*169*|IL32_uc002ctr.3_Silent_p.*169*|IL32_uc002ctt.3_Silent_p.*189*|IL32_uc010uwr.2_Silent_p.*149*|IL32_uc002ctu.3_Silent_p.*180*|IL32_uc021tbc.1_Non-coding_Transcript NM_004221 NP_004212 P24001 IL32_HUMAN Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA. 0 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 TCCTCAAAATGAAGATACTGA 0.617000 125 11 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144874996 144874996 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:144874996G>A uc003yzp.1 - 29 4066 c.4059C>T c.(4057-4059)tcC>tcT p.S1353S SCRIB_uc003yzn.1_Silent_p.S62S|SCRIB_uc003yzo.1_Silent_p.S1353S NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1353 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCTCCCGGAAGGACAGCTGCT 0.706000 9 3 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87913477 87913477 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:87913477C>T uc022agz.1 - 2 331 c.108G>A c.(106-108)ttG>ttA p.L36L STEAP4_uc003ujs.3_Silent_p.L36L|STEAP4_uc010lek.3_Silent_p.L36L NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 36 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) GGAGCATTTTCAATCCCAGTG 0.413000 45 24 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738808 33738808 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:33738808G>A uc002hji.4 - 3 1663 c.1286C>T c.(1285-1287)tCt>tTt p.S429F SLFN12_uc002hjj.4_Missense_Mutation_p.S429F|SLFN12_uc010cts.3_Missense_Mutation_p.S429F NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN Homo sapiens schlafen family member 12 (SLFN12), mRNA. 429 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAGATCCACAGACCAGCTCCT 0.453000 23 39 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32453371 32453371 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:32453371G>A uc003xiv.2 + 1 643 c.126G>A c.(124-126)atG>atA p.M42I NRG1_uc022ats.1_Missense_Mutation_p.M21I|NRG1_uc003xip.3_Missense_Mutation_p.M257I|NRG1_uc003xir.3_Missense_Mutation_p.M42I|NRG1_uc010lvl.3_Missense_Mutation_p.M42I|NRG1_uc010lvm.3_Missense_Mutation_p.M42I|NRG1_uc010lvn.3_Missense_Mutation_p.M42I|NRG1_uc003xis.3_Missense_Mutation_p.M42I|NRG1_uc011lbf.1_Missense_Mutation_p.M42I|NRG1_uc010lvo.2_Missense_Mutation_p.M42I|NRG1_uc003xiu.2_Missense_Mutation_p.M42I|NRG1_uc003xiw.2_Missense_Mutation_p.M42I|NRG1_uc003xit.2_Missense_Mutation_p.M42I|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Missense_Mutation_p.M8I|NRG1_uc010lvq.2_Missense_Mutation_p.M1I NM_013964 NP_039258 Q02297 NRG1_HUMAN Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA. 42 Ig-like C2-type. Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGAAAGAGATGAAAAGCCAGG 0.423000 58 11 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49961578 49961578 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:49961578G>A uc004dow.1 - 3 364 c.240C>T c.(238-240)atC>atT p.I80I AKAP4_uc004dou.1_Silent_p.I71I|AKAP4_uc004dov.1_Silent_p.I71I|AKAP4_uc010njp.1_5'UTR NM_003886 NP_647450 Q5JQC9 AKAP4_HUMAN Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA. 80 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CCTTGATCACGATAATCTCTT 0.423000 10 39 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186282 5186283 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:5186282_5186283CC>TT uc003jdl.3 + 4 1019_1020 c.881_882CC>TT c.(880-882)acc>aTT p.T294I ADAMTS16_uc003jdk.1_Missense_Mutation_p.T294I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T294I NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 294 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AACGTGGAGACCTTGGTGGTGG 0.455000 38 37 0 0 1 0 0 EGFL6 25975 broad.mit.edu 37 X 13636087 13636087 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:13636087G>A uc004cvj.3 + 7 1304 c.1017G>A c.(1015-1017)atG>atA p.M339I EGFL6_uc004cvi.3_Missense_Mutation_p.M339I|EGFL6_uc011mik.1_Missense_Mutation_p.M240I NM_001167890 NP_001161362 Q8IUX8 EGFL6_HUMAN Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA. 339 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 AAGAGAAAATGAAAGAGGGGC 0.448000 10 18 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117304772 117304772 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:117304772C>T uc003vjd.3 + 24 4126 c.3994C>T c.(3994-3996)Cct>Tct p.P1332S CFTR_uc011knq.2_Missense_Mutation_p.P738S NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 1332 ABC transporter 2. 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) AGAACAGTTTCCTGGGAAGCT 0.448000 Cystic Fibrosis 51 28 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48064312 48064312 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:48064312C>T uc002zjx.3 + 4 573 c.239C>T c.(238-240)cCg>cTg p.P80L PRMT2_uc021wkc.1_Missense_Mutation_p.P80L|PRMT2_uc002zjw.3_Missense_Mutation_p.P80L|PRMT2_uc002zjy.3_Missense_Mutation_p.P80L|PRMT2_uc010gqm.3_Missense_Mutation_p.P80L|PRMT2_uc011aga.2_Missense_Mutation_p.P80L|PRMT2_uc011agb.2_Missense_Mutation_p.P80L|PRMT2_uc011agc.2_Missense_Mutation_p.P80L|PRMT2_uc002zjz.1_5'UTR NM_206962 NP_996845 P55345 ANM2_HUMAN Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA. 80 SH3. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) GGGTACATTCCGGCAAACCAT 0.517000 74 14 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100062792 100062792 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:100062792G>A uc003hun.3 - 2 238 c.162C>T c.(160-162)atC>atT p.I54I LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Silent_p.I73I NM_000670 NP_000661 P08319 ADH4_HUMAN Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA. 54 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) ATTTAGAATCGATAACAGTGG 0.453000 29 11 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372678 175372678 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:175372678C>T uc001gkp.1 - 1 655 c.574G>A c.(574-576)Gaa>Aaa p.E192K TNR_uc009wwu.1_Missense_Mutation_p.E192K|TNR_uc010pmz.1_Missense_Mutation_p.E192K NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 192 Cys-rich.|EGF-like 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AACCAGCCTTCGTTGCAGATG 0.562000 112 65 0 0 1 0 0 TUBA4B 80086 broad.mit.edu 37 2 220136072 220136072 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:220136072C>T uc002vkv.1 + 3 542 c.377C>T c.(376-378)tCt>tTt p.S126F TUBA4B_uc002vku.3_Intron Homo sapiens tubulin, alpha 4b (pseudogene) (TUBA4B), non-coding RNA. CCCTACAACTCTATCCTGACC 0.522000 38 23 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121262927 121262928 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:121262927_121262928GG>AA uc003yox.3 + 21 2939_2940 c.2674_2675GG>AA c.(2674-2676)gga>AAa p.G892K COL14A1_uc003yoy.3_Missense_Mutation_p.G570K NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 892 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCTCCTCAGCGGAATGGACTAC 0.465000 36 11 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26348290 26348290 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:26348290G>A uc003abz.1 + 37 6121 c.5871G>A c.(5869-5871)caG>caA p.Q1957Q MYO18B_uc003aca.1_Silent_p.Q1838Q|MYO18B_uc010guy.1_Silent_p.Q1839Q|MYO18B_uc010guz.1_Silent_p.Q1837Q|MYO18B_uc011aka.1_Silent_p.Q1111Q|MYO18B_uc011akb.1_Silent_p.Q1470Q|MYO18B_uc010gva.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1957 Tail. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACCTGGAACAGTCCACCGTGG 0.512000 12 4 0 0 1 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20471158 20471158 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:20471158G>A uc009vpp.1 + 3 498 c.400G>A c.(400-402)Gag>Aag p.E134K NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA. 91 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TCACACCATCGAGAACAACAC 0.592000 8 4 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610657 95610657 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:95610657G>A uc004asu.1 - 4 561 c.412C>T c.(412-414)Cgt>Tgt p.R138C ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R140C|ZNF484_uc004asv.1_Missense_Mutation_p.R102C|ZNF484_uc010mrb.1_Missense_Mutation_p.R102C NM_031486 NP_001007102 Q5JVG2 ZN484_HUMAN Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA. 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R138C(4) NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 AAGACAACACGACTTAAAGGT 0.368000 96 21 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1394582 1394582 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:1394582C>T uc001aft.2 + 8 1778 c.783C>T c.(781-783)ttC>ttT p.F261F NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA. 261 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGAACGCCTTCCTGTACCGCA 0.632000 36 5 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135201882 135201882 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:135201882G>A uc004cbk.3 - 9 5286 c.5103C>T c.(5101-5103)ttC>ttT p.F1701F SETX_uc004cbj.3_Silent_p.F1320F|SETX_uc010mzt.3_Silent_p.F1320F NM_015046 NP_055861 Q7Z333 SETX_HUMAN Homo sapiens senataxin (SETX), mRNA. 1701 RNA processing|cell death|double-strand break repair cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CCTCTTTAACGAAGGTGTCAG 0.418000 30 5 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124805848 124805848 + Missense_Mutation SNP G C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:124805848G>C uc001qbk.3 - 0 461 c.55C>G c.(55-57)Cct>Gct p.P19A HEPACAM_uc001qbl.1_Missense_Mutation_p.P19A NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 19 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TAGACAAAAGGAGCAAGGCGC 0.542000 12 11 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260436 44260436 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr18:44260436G>A uc010xcy.1 - 7 1376 c.808C>T c.(808-810)Cgc>Tgc p.R270C ST8SIA5_uc002lci.1_Missense_Mutation_p.R81C|ST8SIA5_uc002lcj.1_Missense_Mutation_p.R234C|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R203C NM_013305 NP_037437 O15466 SIA8E_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA. 234 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 TGCAGCACGCGATAGAACGGC 0.637000 9 5 0 0 1 0 0 SGK2 10110 broad.mit.edu 37 20 42199313 42199313 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:42199313C>T uc002xkv.3 + 5 816 c.597C>T c.(595-597)taC>taT p.Y199Y SGK2_uc002xkr.3_Silent_p.Y139Y|SGK2_uc010ggm.3_Silent_p.Y139Y|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.Y139Y NM_016276 NP_733794 Q9HBY8 SGK2_HUMAN Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA. 199 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCAGGTTCTACGCTGCTGAGG 0.622000 82 17 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149418604 149418604 + Silent SNP C A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:149418604C>A uc003wfz.3 + 4 843 c.444C>A c.(442-444)gtC>gtA p.V148V KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 148 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGACGGGGTCCAGGGAAGTC 0.637000 15 8 1.12685e-05 1.13337e-05 1 1 0 SEMA6C 10500 broad.mit.edu 37 1 151110230 151110230 + Missense_Mutation SNP A C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:151110230A>C uc001ewv.3 - 9 1049 c.713T>G c.(712-714)tTc>tGc p.F238C SEMA6C_uc001ewu.3_Missense_Mutation_p.F238C|SEMA6C_uc001eww.3_Missense_Mutation_p.F198C|SEMA6C_uc009wml.2_Non-coding_Transcript NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 238 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCGGAAGAAGAAGTAGACATG 0.552000 44 44 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33140318 33140318 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:33140318C>T uc003ocx.1 - 38 3115 c.2887G>A c.(2887-2889)Gaa>Aaa p.E963K COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E877K|COL11A2_uc003ocz.1_Missense_Mutation_p.E856K NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 963 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.K962N(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TTTGTTCCTTCTTTTCCAGCT 0.632000 50 34 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 238973090 238973090 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:238973090C>T uc010fyv.3 + 1 313 c.182C>T c.(181-183)cCc>cTc p.P61L SCLY_uc002vxm.4_Missense_Mutation_p.P28L|SCLY_uc010znr.2_Missense_Mutation_p.P61L|SCLY_uc010znq.2_Missense_Mutation_p.P61L NM_016510 NP_057594 Q96I15 SCLY_HUMAN Homo sapiens selenocysteine lyase (SCLY), mRNA. 61 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) TGGGGAAATCCCAGCAGCCCG 0.507000 21 9 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3432136 3432136 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:3432136C>T uc002fvr.2 - 9 1718 c.1396G>A c.(1396-1398)Gag>Aag p.E466K TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.E450K|TRPV3_uc010vri.1_Missense_Mutation_p.E421K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E466K|TRPV3_uc010vrj.1_Missense_Mutation_p.E450K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E450K|TRPV3_uc002fvu.3_Missense_Mutation_p.E466K|TRPV3_uc010vrn.1_Missense_Mutation_p.E48K NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA. 466 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) CGTACCTCCTCCTCCCGGGGG 0.577000 28 10 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599171 136599171 + Missense_Mutation SNP C T T rs145724464 TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:136599171C>T uc003qgx.1 - 3 1101 c.848G>A c.(847-849)cGa>cAa p.R283Q BCLAF1_uc003qgy.1_Missense_Mutation_p.R281Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R281Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R283Q NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 283 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGGACTGTATCGACTAGATCC 0.443000 27 8 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11233876 11233876 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:11233876G>A uc002mqk.4 + 14 2354 c.2167G>A c.(2167-2169)Gag>Aag p.E723K LDLR_uc010xlk.2_Missense_Mutation_p.E723K|LDLR_uc010xll.2_Missense_Mutation_p.E682K|LDLR_uc021upc.1_Missense_Mutation_p.E602K|LDLR_uc010xln.2_Missense_Mutation_p.E545K|LDLR_uc010xlo.2_Missense_Mutation_p.E555K|LDLR_uc010xlm.2_Missense_Mutation_p.E576K|LDLR_uc021upd.1_Missense_Mutation_p.E460K NM_000527 NP_000518 P01130 LDLR_HUMAN Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA. 723 Clustered O-linked oligosaccharides. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GGCCACCCAGGAGACATCCAC 0.592000 64 27 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49376623 49376623 + Missense_Mutation SNP T C C TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:49376623T>C uc002pky.4 + 1 402 c.133T>C c.(133-135)Tgg>Cgg p.W45R NM_014330 NP_055145 O75807 PR15A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA. 45 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TCTAGAGCCCTGGCTGGTGGA 0.647000 34 13 0 0 1 0 0 POU4F2 5458 broad.mit.edu 37 4 147561695 147561695 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:147561695G>A uc003ikv.3 + 1 1213 c.965G>A c.(964-966)tGg>tAg p.W322* NM_004575 NP_004566 Q12837 PO4F2_HUMAN Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA. 322 POU-specific. MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CTGCAGGCATGGCTCGAGGAG 0.607000 58 25 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19032984 19032984 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:19032984C>T uc002dfp.2 + 3 624 c.494C>T c.(493-495)tCc>tTc p.S165F TMC7_uc010vao.1_Missense_Mutation_p.S165F|TMC7_uc002dfq.3_Missense_Mutation_p.S165F|TMC7_uc010vap.2_Missense_Mutation_p.S55F NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 165 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TCCTATTTCTCCTTCTTGAGA 0.408000 43 27 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7457016 7457016 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:7457016G>A uc001qsx.1 + 0 89 c.89G>A c.(88-90)tGg>tAg p.W30* NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 30 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.L29I(1) endometrium(6)|kidney(1)|lung(14) 21 CACCAGCTTTGGACGCCTCTG 0.483000 120 38 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40778120 40778120 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:40778120G>A uc003gvj.4 + 6 1375 c.880G>A c.(880-882)Gat>Aat p.D294N NSUN7_uc003gvi.4_Missense_Mutation_p.D294N NM_024677 NP_078953 Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA. NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 AAATATGGATGATGATGTCTT 0.343000 55 16 0 0 1 0 0 ENGASE 64772 broad.mit.edu 37 17 77073515 77073515 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:77073515C>T uc002jwv.3 + 1 158 c.150C>T c.(148-150)atC>atT p.I50I ENGASE_uc002jwu.1_Silent_p.I50I|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA. 50 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity p.I50F(1) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 TGCTTAGCATCAAAGATGAAG 0.423000 42 8 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17637606 17637606 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:17637606G>A uc003ncd.1 - 15 2442 c.2242C>T c.(2242-2244)Ccg>Tcg p.P748S NUP153_uc011dje.1_Missense_Mutation_p.P779S|NUP153_uc010jpl.1_Missense_Mutation_p.P706S NM_005124 NP_005115 P49790 NU153_HUMAN Homo sapiens nucleoporin 153kDa (NUP153), mRNA. 748 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding p.P748P(2) NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CCAGGTTTCGGTGTTTCACAG 0.433000 165 36 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70896075 70896075 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:70896075C>T uc002ezr.3 - 68 11801 c.11650G>A c.(11650-11652)Ggt>Agt p.G3884S HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3885 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTGGGGAACCCTCGGCCCAG 0.557000 23 3 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180756944 180756944 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:180756944C>T uc001goi.3 + 2 369 c.177C>T c.(175-177)ttC>ttT p.F59F XPR1_uc009wxm.2_Silent_p.F59F|XPR1_uc009wxn.3_Silent_p.F59F NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA. 59 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 AGAAGTTTTTCCAAACCTGTG 0.343000 88 22 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23438221 23438221 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:23438221C>T uc002zwu.1 + 1 876 c.339C>T c.(337-339)ccC>ccT p.P113P RTDR1_uc002zwt.3_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA. 113 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity p.G112V(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TGACGGGCCCCGCTGAGAGCA 0.692000 128 24 0 0 1 0 0 STOML1 9399 broad.mit.edu 37 15 74284463 74284463 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:74284463G>A uc002awe.3 - 0 173 c.102C>T c.(100-102)tcC>tcT p.S34S PML_uc002awj.1_5'Flank|PML_uc002awm.3_5'Flank|PML_uc002awl.3_5'Flank|PML_uc002awk.3_5'Flank|PML_uc002awn.3_5'Flank|PML_uc002awo.3_5'Flank|PML_uc002awp.3_5'Flank|PML_uc002awq.3_5'Flank|PML_uc002awr.3_5'Flank|PML_uc002aws.3_5'Flank|PML_uc002awt.3_5'Flank|PML_uc002awu.3_5'Flank|PML_uc002awv.3_5'Flank|PML_uc010ule.2_5'Flank|STOML1_uc002awf.3_Silent_p.S34S|STOML1_uc010bje.3_Silent_p.S34S|STOML1_uc010uld.2_5'UTR|STOML1_uc002awh.3_Silent_p.S34S|STOML1_uc002awg.3_Silent_p.S34S NM_004809 NP_004800 Q9UBI4 STML1_HUMAN Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA. 34 integral to membrane sterol binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CCCGCTCCGGGGACAAGCAGC 0.726000 48 8 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28250509 28250509 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:28250509C>T uc009xky.3 - 9 1472 c.1374G>A c.(1372-1374)gtG>gtA p.V458V ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Silent_p.V150V|ARMC4_uc001itz.3_Silent_p.V458V|ARMC4_uc010qdu.1_Silent_p.V150V NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 458 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTAAATATTTCACCAGCTTCT 0.378000 33 5 0 0 1 0 0 URM1 81605 broad.mit.edu 37 9 131150102 131150102 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:131150102C>T uc011may.1 + 2 176 c.114C>T c.(112-114)atC>atT p.I38I URM1_uc004buv.2_Silent_p.I38I NM_001135947 NP_001129419 Q9BTM9 URM1_HUMAN Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA. 38 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 CAGGGGACATCCGGAACCTGC 0.532000 51 58 0 0 1 0 0 FAM3C 10447 broad.mit.edu 37 7 120991240 120991240 + Missense_Mutation SNP A T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:120991240A>T uc003vjx.3 - 8 799 c.551T>A c.(550-552)tTc>tAc p.F184Y FAM3C_uc010lkm.3_Missense_Mutation_p.F184Y NM_014888 NP_055703 Q92520 FAM3C_HUMAN Homo sapiens family with sequence similarity 3, member C (FAM3C), transcript variant 1, mRNA. 184 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) CCCACCACAGAAGACCCAGTT 0.423000 49 24 0 0 1 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50405653 50405654 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:50405653_50405654CC>TT uc003daq.3 - 24 2117_2118 c.2079_2080GG>AA c.(2077-2082)aaggac>aaAAac p.D694N CACNA2D2_uc003dap.3_Missense_Mutation_p.D687N NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 694 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GCATTCAGGTCCTTGCAGTACT 0.554000 55 41 0 0 1 0 0 WSB2 55884 broad.mit.edu 37 12 118474166 118474166 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:118474166G>A uc001twr.2 - 5 908 c.810C>T c.(808-810)acC>acT p.T270T WSB2_uc010sza.1_Silent_p.T45T|WSB2_uc010szb.1_Silent_p.T60T|WSB2_uc009zws.1_Silent_p.T270T NM_018639 NP_061109 Q9NYS7 WSB2_HUMAN Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA. 270 intracellular signal transduction p.T270I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCTTTCGCCGGTGTAGGGGT 0.517000 163 4 0 0 1 0 0 S100A12 6283 broad.mit.edu 37 1 153347001 153347001 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:153347001C>T uc001fbr.1 - 1 136 c.68G>A c.(67-69)gGg>gAg p.G23E NM_005621 NP_005612 P80511 S10AC_HUMAN Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA. 23 EF-hand 1. defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process cytosol|extracellular region|insoluble fraction|nucleus RAGE receptor binding|calcium ion binding|zinc ion binding endometrium(1)|kidney(1)|skin(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GTCAAAATGCCCCTTCCGAAC 0.463000 93 24 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10091776 10091776 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:10091776C>T uc002mmq.1 - 32 2579 c.2493G>A c.(2491-2493)gaG>gaA p.E831E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 831 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GTGGTCCCCGCTCTCCTTCCA 0.527000 34 13 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739211 119739211 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:119739211C>T uc002tln.1 + 9 1012 c.880C>T c.(880-882)Cct>Tct p.P294S MARCO_uc010yyf.1_Missense_Mutation_p.P216S NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 294 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 GGCTGGTTTTCCTGGAGCTAA 0.443000 12 33 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136654407 136654407 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:136654407G>A uc004ces.3 - 13 1293 c.1247C>T c.(1246-1248)tCc>tTc p.S416F VAV2_uc004cer.3_Missense_Mutation_p.S411F|VAV2_uc004cet.1_5'UTR NM_001134398 NP_001127870 P52735 VAV2_HUMAN Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA. 416 PH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|metal ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GTTGACTATGGACCGGACTTT 0.622000 72 85 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49666204 49666204 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:49666204C>T uc003ozn.2 - 6 524 c.288G>A c.(286-288)gaG>gaA p.E96E CRISP2_uc003ozr.2_Silent_p.E96E|CRISP2_uc003ozo.2_Silent_p.E96E|CRISP2_uc003ozm.2_Silent_p.E96E|CRISP2_uc003ozp.2_Silent_p.E96E|CRISP2_uc003ozq.2_Silent_p.E96E|CRISP2_uc003ozl.2_Silent_p.E96E NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 96 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TATAGAGATTCTCACCACATC 0.408000 62 21 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113049 59113049 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:59113049C>T uc001xdw.3 + 3 1872 c.1708C>T c.(1708-1710)Cac>Tac p.H570Y DACT1_uc010trv.2_Missense_Mutation_p.H289Y|DACT1_uc001xdx.3_Missense_Mutation_p.H533Y|DACT1_uc010trw.2_Missense_Mutation_p.H289Y NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA. 570 Wnt receptor signaling pathway|multicellular organismal development cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 TGTCAGGCTCCACCGGGGCCA 0.647000 19 7 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135712018 135712018 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:135712018C>T uc002tuc.2 + 8 2026 c.1993C>T c.(1993-1995)Ccc>Tcc p.P665S CCNT2_uc010zbf.2_Intron|CCNT2_uc002tub.2_Intron|CCNT2_uc002tud.2_Missense_Mutation_p.P328S NM_058241 NP_490595 O60583 CCNT2_HUMAN Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA. 665 Poly-Pro. cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) TTTTAACCATCCCTTACCCCC 0.483000 19 38 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93641166 93641166 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:93641166C>T uc004aqz.3 + 10 1717 c.1512C>T c.(1510-1512)acC>acT p.T504T SYK_uc004ara.3_Silent_p.T481T|SYK_uc004arb.3_Silent_p.T481T|SYK_uc004arc.3_Silent_p.T504T|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 504 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TGCTAGTTACCCAACATTACG 0.428000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 72 27 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6378740 6378740 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:6378740T>A uc003wqj.4 - 3 1087 c.758A>T c.(757-759)gAg>gTg p.E253V MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.E253V|ANGPT2_uc010lri.3_Missense_Mutation_p.E201V|ANGPT2_uc003wql.4_Missense_Mutation_p.E253V NM_001147 NP_001138 O15123 ANGP2_HUMAN Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA. 253 Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) ATTAACTGTCTCCATGAGATC 0.348000 46 10 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72673455 72673455 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:72673455G>A uc011mqk.2 + 1 605 c.605G>A c.(604-606)aGa>aAa p.R202K NM_005193 NP_005184 O14627 CDX4_HUMAN Homo sapiens caudal type homeobox 4 (CDX4), mRNA. 202 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) ACCATCCAGAGAAAATCAGAG 0.398000 5 10 0 0 1 0 0 GPR171 29909 broad.mit.edu 37 3 150917098 150917098 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:150917098G>A uc003eyq.4 - 2 316 c.76C>T c.(76-78)Ctt>Ttt p.L26F MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.L26F NM_013308 NP_037440 O14626 GP171_HUMAN Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA. 26 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.L26F(2) endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 15 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTCCAACAAGGAAAACTAAA 0.368000 49 17 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32639034 32639034 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:32639034G>A uc002yow.1 - 4 727 c.255C>T c.(253-255)ttC>ttT p.F85F TIAM1_uc011adk.1_Silent_p.F85F|TIAM1_uc011adl.1_Silent_p.F85F|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 85 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TGGGGCTCCCGAAGTCTTCTA 0.592000 62 15 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33163700 33163700 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:33163700G>A uc003odb.3 - 5 1286 c.1107C>T c.(1105-1107)gtC>gtT p.V369V RXRB_uc003odc.3_Silent_p.V369V|RXRB_uc011dqr.2_Silent_p.V179V|RXRB_uc011dqs.1_Silent_p.V252V|RXRB_uc003ode.1_3'UTR|RXRB_uc011dqt.1_3'UTR|RXRB_uc011dqu.1_3'UTR NM_021976 NP_068811 P28702 RXRB_HUMAN Homo sapiens retinoid X receptor, beta (RXRB), mRNA. 369 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GCAGCAATATGACCTGATCAT 0.507000 22 17 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57647019 57647019 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:57647019C>T uc002qnz.1 - 4 1072 c.686G>A c.(685-687)gGa>gAa p.G229E NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTAGGCATTTCCACAGTTCTC 0.418000 56 22 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157494248 157494248 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:157494248G>A uc009wsm.3 - 9 2218 c.2060C>T c.(2059-2061)tCc>tTc p.S687F FCRL5_uc001fqu.3_Missense_Mutation_p.S687F|FCRL5_uc010phv.1_Missense_Mutation_p.S687F|FCRL5_uc010phw.1_Missense_Mutation_p.S602F NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 687 Ig-like C2-type 7. S -> C (in a breast cancer sample; somatic mutation). integral to membrane|plasma membrane receptor activity p.S687C(2) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CAGGATTGGGGAGGAGCCTCT 0.582000 34 30 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87570348 87570348 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:87570348G>A uc004aoa.1 + 17 2978 c.2040G>A c.(2038-2040)agG>agA p.R680R NTRK2_uc004any.1_Silent_p.R680R|NTRK2_uc004anz.1_Silent_p.R696R NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA. 680 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGGCCACCAGGAACTGCCTGG 0.592000 TSP Lung(25;0.17) 22 11 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15733008 15733008 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:15733008G>A uc001rcv.2 + 20 3426 c.2956G>A c.(2956-2958)Gaa>Aaa p.E986K PTPRO_uc001rcw.2_Missense_Mutation_p.E958K|PTPRO_uc001rcx.2_Missense_Mutation_p.E175K|PTPRO_uc001rcy.2_Missense_Mutation_p.E175K|PTPRO_uc001rcz.2_Missense_Mutation_p.E147K|PTPRO_uc001rda.2_Missense_Mutation_p.E147K NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 986 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CTCCATGAATGAAGAGGAAGG 0.373000 31 13 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1230938 1230938 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:1230938G>A uc009xhq.3 - 8 2232 c.1906C>T c.(1906-1908)Ccc>Tcc p.P636S ADARB2_uc001igj.2_Missense_Mutation_p.P20S|ADARB2_uc001igl.4_5'UTR|ADARB2_uc001igm.4_Missense_Mutation_p.P145S NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 636 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ATGCTGAAGGGGGGCGACTTC 0.677000 21 6 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136196 92136196 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:92136196G>A uc001xzs.1 - 13 1389 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y CATSPERB_uc010aub.1_5'UTR NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 417 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.H417Y(2) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTCGGGGATGAAATACCATT 0.408000 11 24 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66441132 66441133 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:66441132_66441133CC>TT uc021xzk.1 + 22 3327_3328 c.3019_3020CC>TT c.(3019-3021)cct>TTt p.P1007F MAST4_uc003jut.2_Missense_Mutation_p.P818F|MAST4_uc003juu.1_Missense_Mutation_p.P828F|MAST4_uc011cra.1_Missense_Mutation_p.P801F|MAST4_uc003juv.2_Missense_Mutation_p.P813F|MAST4_uc003juw.3_Missense_Mutation_p.P813F NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 1010 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCCAGCCCTTCCTCCTGAAGAG 0.609000 29 6 0 0 1 0 0 OR2A5 393046 broad.mit.edu 37 7 143747706 143747706 + Missense_Mutation SNP C T T rs149614119 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:143747706C>T uc011ktw.2 + 0 212 c.212C>T c.(211-213)tCg>tTg p.S71L NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S71L(2) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) ATTGATATTTCGTATGCTTCC 0.483000 86 17 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055851 40055851 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:40055851G>A uc003ayc.3 + 13 2598 c.2598G>A c.(2596-2598)caG>caA p.Q866Q CACNA1I_uc003ayd.3_Silent_p.Q831Q|CACNA1I_uc003aye.3_Silent_p.Q781Q|CACNA1I_uc003ayf.3_Silent_p.Q746Q NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA. 866 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) AGGGCTTCCAGGCGGAGGTGA 0.617000 50 17 0 0 1 0 0 PTGES 9536 broad.mit.edu 37 9 132510994 132510994 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:132510994G>A uc004byi.3 - 1 202 c.149C>T c.(148-150)gCc>gTc p.A50V PTGES_uc010myy.3_Non-coding_Transcript NM_004878 NP_004869 O14684 PTGES_HUMAN Homo sapiens prostaglandin E synthase (PTGES), mRNA. 50 prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity lung(1)|skin(1) 2 Ovarian(14;0.00556) GTGTCTCAGGGCATCCTCGGG 0.602000 25 12 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94578550 94578550 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:94578550G>A uc001dqh.3 - 1 243 c.139C>T c.(139-141)Cca>Tca p.P47S ABCA4_uc010otn.1_Missense_Mutation_p.P47S NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 47 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTGTAGAGTGGGTTGGCATTC 0.448000 43 33 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52574367 52574367 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:52574367C>T uc001rzw.3 - 1 752 c.701G>A c.(700-702)cGg>cAg p.R234Q KRT80_uc001rzy.3_Missense_Mutation_p.R199Q|KRT80_uc001rzx.3_Missense_Mutation_p.R199Q NM_182507 NP_872313 Q6KB66 K2C80_HUMAN Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA. 199 Linker 12.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CAGTTCAGTCCGATGAAGACA 0.567000 86 25 0 0 1 0 0 WNT4 54361 broad.mit.edu 37 1 22446990 22446990 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:22446990C>T uc001bfs.4 - 4 713 c.609G>A c.(607-609)cgG>cgA p.R203R WNT4_uc010odt.2_Silent_p.R140R NM_030761 NP_110388 P56705 WNT4_HUMAN Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA. 203 Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 8 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) TGCATTCCACCCGCATGTGTG 0.662000 20 13 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193397 128193397 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:128193397G>A uc010qum.2 - 3 693 c.663C>T c.(661-663)ccC>ccT p.P221P C10orf90_uc001ljp.3_Silent_p.P77P|C10orf90_uc001ljq.3_Silent_p.P124P|C10orf90_uc009yao.2_Silent_p.P221P|C10orf90_uc001ljs.1_Silent_p.P77P NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA. 124 p.R220H(1)|p.R220G(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCTCCTCTTTGGGCGGCAGCT 0.647000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 15 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19020694 19020694 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:19020694C>T uc002dfp.2 + 1 398 c.268C>T c.(268-270)Ctt>Ttt p.L90F TMC7_uc010vao.1_Missense_Mutation_p.L90F|TMC7_uc002dfq.3_Missense_Mutation_p.L90F|TMC7_uc010vap.2_5'UTR NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 90 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 CAGCCATTCTCTTCGAAATTA 0.493000 39 37 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2702491 2702491 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:2702491C>T uc009zdu.1 + 18 2956 c.2643C>T c.(2641-2643)ttC>ttT p.F881F CACNA1C_uc001qkc.2_Silent_p.F881F|CACNA1C_uc001qjz.2_Silent_p.F881F|CACNA1C_uc001qkd.2_Silent_p.F881F|CACNA1C_uc001qke.2_Silent_p.F881F|CACNA1C_uc001qkf.2_Silent_p.F881F|CACNA1C_uc009zdw.1_Silent_p.F881F|CACNA1C_uc001qkg.2_Silent_p.F881F|CACNA1C_uc001qkh.2_Silent_p.F881F|CACNA1C_uc001qkl.2_Silent_p.F881F|CACNA1C_uc001qkj.2_Silent_p.F881F|CACNA1C_uc001qkk.2_Silent_p.F881F|CACNA1C_uc001qkn.2_Silent_p.F881F|CACNA1C_uc001qkm.2_Silent_p.F881F|CACNA1C_uc001qko.2_Silent_p.F881F|CACNA1C_uc001qkp.2_Silent_p.F881F|CACNA1C_uc001qkq.2_Silent_p.F881F|CACNA1C_uc001qku.2_Silent_p.F881F|CACNA1C_uc001qkr.2_Silent_p.F881F|CACNA1C_uc001qks.2_Silent_p.F881F|CACNA1C_uc001qkt.2_Silent_p.F881F|CACNA1C_uc009zdv.1_Silent_p.F878F|CACNA1C_uc001qkb.2_Silent_p.F881F|CACNA1C_uc001qka.1_Silent_p.F416F|CACNA1C_uc001qki.1_Silent_p.F617F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 881 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCGCGTTTTTCATCTTCAGCT 0.557000 16 4 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96917772 96917772 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:96917772C>T uc001yfn.2 + 9 1007 c.963C>T c.(961-963)gaC>gaT p.D321D NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 321 cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATTGTCTTGACCATTTACTGG 0.343000 25 8 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140236032 140236032 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:140236032C>T uc003lhx.2 + 0 399 c.399C>T c.(397-399)tcC>tcT p.S133S 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_Silent_p.S133S|PCDHAC2_uc011dad.2_Silent_p.S133S NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 149 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S132S(1) 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) CCAGGTTCTCCGTAACAGAAC 0.522000 147 4 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49168221 49168221 + Silent SNP G A A rs115957272 by1000genomes TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:49168221G>A uc001rsh.4 - 12 2907 c.2247C>T c.(2245-2247)tcC>tcT p.S749S ADCY6_uc001rsi.4_Silent_p.S749S|ADCY6_uc001rsj.4_Silent_p.S749S|ADCY6_uc010slw.1_5'UTR|MIR4701_uc021qxl.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 749 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CAAGCAGGACGGAAAAGATGC 0.557000 28 19 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113075216 113075216 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:113075216G>A uc021qqp.1 + 2 702 c.330G>A c.(328-330)gtG>gtA p.V110V NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Silent_p.V110V|NCAM1_uc021qqo.1_Silent_p.V110V|NCAM1_uc001pnq.3_Silent_p.V110V|NCAM1_uc001pnr.3_Silent_p.V110V NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 112 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCGTCAACGTGAAGATCTTTC 0.522000 11 9 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167986 161167986 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:161167986C>T uc001fyt.4 - 0 860 c.432G>A c.(430-432)tgG>tgA p.W144* ADAMTS4_uc001fyu.2_Nonsense_Mutation_p.W144*|NDUFS2_uc001fyv.3_5'Flank NM_005099 NP_005090 O75173 ATS4_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA. 144 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTCCCCCATCCCAGTGCAGAG 0.647000 64 32 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39773604 39773604 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:39773604G>A uc003axs.4 + 4 512 c.487_splice c.e4-1 p.S163_splice TAB1_uc003axo.4_Splice_Site_p.S162_splice|TAB1_uc003axq.4_Intron|TAB1_uc003axr.3_Intron NM_145738 NP_663791 Q15750 TAB1_HUMAN Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1c, mRNA. 0 PP2C-like. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 TCCTGGCAGAGCCTGACCGCA 0.662000 17 12 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50720702 50720702 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:50720702G>A uc003bkv.4 - 18 3121 c.3028C>T c.(3028-3030)Ctg>Ttg p.L1010L PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'UTR NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1010 IPT/TIG 3. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTCTGGATCAGGCTGAAGCCC 0.687000 94 18 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6700880 6700880 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:6700880G>A uc001qpo.3 - 20 3366 c.3202C>T c.(3202-3204)Cgt>Tgt p.R1068C CHD4_uc001qpn.3_Missense_Mutation_p.R1061C|CHD4_uc001qpp.3_Missense_Mutation_p.R1065C NM_001273 NP_001264 Q14839 CHD4_HUMAN Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA. 1068 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATGAGTACACGATGCCCACCC 0.468000 65 17 0 0 1 0 0 PARVG 64098 broad.mit.edu 37 22 44586492 44586492 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:44586492C>T uc011aqe.2 + 6 874 c.450C>T c.(448-450)ttC>ttT p.F150F PARVG_uc003bep.3_Silent_p.F150F|PARVG_uc011aqf.2_Silent_p.F150F|PARVG_uc021wrc.1_Non-coding_Transcript NM_001137605 NP_071424 Q9HBI0 PARVG_HUMAN Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA. 150 CH 1. cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) CCAAGCGCTTCCAGCCCGACC 0.602000 101 12 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196651890 196651890 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:196651890T>A uc002utj.4 - 57 10823 c.10722A>T c.(10720-10722)gaA>gaT p.E3574D DNAH7_uc002uti.4_Missense_Mutation_p.E57D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3574 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTTCTTGAATTCCTCCTGTA 0.328000 17 24 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657606 143657606 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:143657606C>T uc003wds.1 + 0 587 c.543C>T c.(541-543)ctC>ctT p.L181L NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L181L(2)|p.L181I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) CCTGTGAACTCCTAGCTGTGG 0.507000 54 27 0 0 1 0 0 C5orf51 285636 broad.mit.edu 37 5 41911244 41911244 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:41911244G>A uc003jmo.3 + 3 449 c.449G>A c.(448-450)aGa>aAa p.R150K NM_175921 NP_787117 A6NDU8 CE051_HUMAN Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA. 150 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 ACCAAAAGAAGAGAGTGGCTC 0.388000 30 13 0 0 1 0 0 HSPA14 51182 broad.mit.edu 37 10 14882145 14882146 + Silent DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:14882145_14882146CC>TT uc001inf.3 + 2 351_352 c.210_211CC>TT c.(208-213)atcctg>atTTtg p.70_71IL>IL CDNF_uc001inb.1_5'Flank|CDNF_uc010qbv.1_5'Flank|CDNF_uc001inc.1_5'Flank|HSPA14_uc001ind.3_5'UTR|HSPA14_uc001ine.3_Silent_p.70_71IL>IL|HSPA14_uc010qbw.2_Silent_p.70_71IL>IL NM_016299 NP_057383 Q0VDF9 HSP7E_HUMAN Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA. 70 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 TAAAGCAGATCCTGGGCAGAAG 0.262000 21 7 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242511543 242511543 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:242511543G>A uc001hzn.2 - 3 417 c.190_splice c.e3-1 p.S64_splice PLD5_uc021pll.1_Splice_Site|PLD5_uc001hzl.4_Splice_Site_p.S2_splice|PLD5_uc001hzm.4_Splice_Site|PLD5_uc001hzo.2_Splice_Site NM_152666 NP_001182741 Q8N7P1 PLD5_HUMAN Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA. 64 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CTTCTGCTGGGACTGAAAGAG 0.458000 9 28 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161221247 161221247 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:161221247G>A uc011bpb.2 + 3 951 c.951G>A c.(949-951)ggG>ggA p.G317G NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 317 Collagen-like 3. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GCAACAAAGGGGTCCGAGGCC 0.577000 19 13 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35627660 35627660 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:35627660G>A uc002hnm.3 - 9 1181 c.990C>T c.(988-990)ttC>ttT p.F330F ACACA_uc002hnk.3_Silent_p.F252F|ACACA_uc002hnl.3_Silent_p.F272F|ACACA_uc002hnn.3_Silent_p.F330F|ACACA_uc002hno.3_Silent_p.F367F|ACACA_uc010cuz.3_Silent_p.F330F NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 330 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AGAGATTAGGGAAGTCATCTG 0.378000 50 26 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187698678 187698678 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:187698678G>A uc002upu.1 - 5 863 c.823C>T c.(823-825)Cgt>Tgt p.R275C NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA. 275 apoptosis zinc ion binding p.R275C(4) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TGTACCTCACGAAATGTAAAC 0.363000 10 22 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7330410 7330410 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:7330410C>T uc002ggw.3 + 2 1173 c.1100C>T c.(1099-1101)tCc>tTc p.S367F SPEM1_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA. 367 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CCCCACCCATCCACGGAACCC 0.697000 16 7 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713106 70713107 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:70713106_70713107GG>AA uc010ttg.2 - 0 1412_1413 c.761_762CC>TT c.(760-762)tcc>tTT p.S254F Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. ACTGCTGTACGGATCCACAGTC 0.480000 14 12 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39390658 39390658 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:39390658G>A uc003jlx.3 - 4 881 c.350C>T c.(349-351)cCa>cTa p.P117L DAB2_uc003jlw.3_Missense_Mutation_p.P117L NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 117 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CTTATTTACTGGATGTTCATG 0.388000 36 4 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75269650 75269650 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:75269650G>A uc002fdv.3 - 4 1293 c.1147C>T c.(1147-1149)Ccg>Tcg p.P383S BCAR1_uc002fdt.3_5'UTR|BCAR1_uc002fdu.3_Missense_Mutation_p.P173S|BCAR1_uc010vna.2_Missense_Mutation_p.P381S|BCAR1_uc010cgu.3_Missense_Mutation_p.P401S|BCAR1_uc010vnb.2_Missense_Mutation_p.P429S|BCAR1_uc002fdw.3_Missense_Mutation_p.P383S|BCAR1_uc010vnc.2_Missense_Mutation_p.P235S|BCAR1_uc010vnd.2_Missense_Mutation_p.P401S|BCAR1_uc002fdx.3_Missense_Mutation_p.P401S NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 383 Substrate for kinases (By similarity). B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) AGGGTGCCCGGGCCAGGCCGC 0.706000 2 15 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71232491 71232491 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:71232491G>A uc003hfg.1 + 2 266 c.185G>A c.(184-186)aGa>aAa p.R62K SMR3A_uc011cas.2_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA. 62 Pro-rich. extracellular region p.G61E(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) GGTCCAGGGAGATTTCCACCA 0.547000 128 4 0 0 1 0 0 DEFB115 245929 broad.mit.edu 37 20 29847349 29847349 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:29847349G>A uc002wvp.1 + 1 181 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN Homo sapiens defensin, beta 115 (DEFB115), mRNA. 61 defense response to bacterium extracellular region p.G60G(1) kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) AAAATGTGGGGAAAAACATAT 0.373000 35 14 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307369 47307369 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chrX:47307369G>A uc004dhs.4 - 3 1993 c.1926C>T c.(1924-1926)atC>atT p.I642I ZNF41_uc004dhu.4_Silent_p.I634I|ZNF41_uc004dht.4_Silent_p.I514I|ZNF41_uc004dhv.4_Silent_p.I610I|ZNF41_uc004dhw.4_Silent_p.I602I|ZNF41_uc004dhy.4_Silent_p.I600I|ZNF41_uc004dhx.4_Silent_p.I600I|ZNF41_uc011mlm.2_Silent_p.I514I NM_153380 NP_700359 P51814 ZNF41_HUMAN Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA. 642 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) CTCCTGTATGGATTCTCTGAT 0.443000 11 25 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66920894 66920894 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:66920894G>A uc002jhq.3 - 10 1730 c.1390C>T c.(1390-1392)Cat>Tat p.H464Y ABCA8_uc002jhp.3_Missense_Mutation_p.H464Y|ABCA8_uc010wqq.2_Missense_Mutation_p.H464Y|ABCA8_uc010wqr.2_Missense_Mutation_p.H403Y|ABCA8_uc002jhr.3_Missense_Mutation_p.H464Y NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 464 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AAAGAGTCATGAAATGAAGGA 0.458000 112 21 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70257747 70257747 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:70257747C>T uc001dep.3 + 1 241 c.211C>T c.(211-213)Cta>Tta p.L71L LRRC7_uc001deo.1_Silent_p.L109L|LRRC7_uc009wbg.3_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 71 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CTGTCAAGCTCTACGAAAACT 0.299000 59 17 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31871659 31871659 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:31871659G>A uc021wuu.1 - 3 1273 c.602C>T c.(601-603)tCt>tTt p.S201F OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.2_Intron NM_017784 NP_060254 Q9BXB5 OSB10_HUMAN Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA. 201 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GCTACAGGGAGACGCAGAATT 0.547000 35 13 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219167 42219167 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:42219167C>T uc002orl.3 + 3 824 c.703_splice c.e3+1 p.Y235_splice CEACAM5_uc010ehz.1_Silent_p.L234L|CEACAM5_uc002orj.1_Splice_Site_p.Y235_splice NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 235 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGAATGTCCTCTGTGAGTATA 0.512000 41 20 0 0 1 0 0 PLK1 5347 broad.mit.edu 37 16 23700962 23700962 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:23700962C>T uc002dlz.1 + 8 1626 c.1573C>T c.(1573-1575)Ctc>Ttc p.L525F NM_005030 NP_005021 P53350 PLK1_HUMAN Homo sapiens polo-like kinase 1 (PLK1), mRNA. 525 POLO box 2. G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding p.L525L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) CATCCTGCACCTCAGCAACGG 0.657000 26 3 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153476151 153476151 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:153476151C>T uc002tye.3 + 14 2123 c.1756C>T c.(1756-1758)Ccc>Tcc p.P586S FMNL2_uc010fob.3_Missense_Mutation_p.P35S|FMNL2_uc002tyf.3_Missense_Mutation_p.P35S NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 586 Pro-rich. actin cytoskeleton organization cytoplasm Rho GTPase binding|actin binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 ACCAGCTCCTCCCTTAGCACC 0.637000 5 14 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088211 92088211 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:92088211G>A uc001xzs.1 - 18 2141 c.2001C>T c.(1999-2001)ctC>ctT p.L667L CATSPERB_uc010aub.1_Silent_p.L189L NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 667 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TGCTTGTGATGAGGAAGCTGC 0.403000 23 9 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3681621 3681621 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:3681621G>A uc003smx.3 + 3 736 c.597G>A c.(595-597)agG>agA p.R199R NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 199 Ig-like C2-type 2. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGGACCAGAGGAAAACAGTTT 0.468000 38 14 0 0 1 0 0 SLC39A11 201266 broad.mit.edu 37 17 70943901 70943901 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:70943901G>A uc002jjb.3 - 4 535 c.420C>T c.(418-420)tcC>tcT p.S140S SLC39A11_uc002jja.3_Silent_p.S140S NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA. 140 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CTATCCGGATGGAAAGTTCAC 0.552000 141 42 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128094858 128094858 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:128094858T>A uc004bpp.3 + 12 2538 c.2378T>A c.(2377-2379)tTt>tAt p.F793Y GAPVD1_uc011lzs.1_Missense_Mutation_p.F793Y|GAPVD1_uc004bpq.3_Missense_Mutation_p.F793Y|GAPVD1_uc010mwx.3_Missense_Mutation_p.F793Y|GAPVD1_uc004bpr.3_Missense_Mutation_p.F772Y|GAPVD1_uc004bps.3_Missense_Mutation_p.F793Y|GAPVD1_uc010mwy.1_Missense_Mutation_p.F652Y NM_015635 NP_056450 Q14C86 GAPD1_HUMAN Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA. 793 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AGCTCTGATTTTGGGGGTAAA 0.398000 49 15 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719615 81719615 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:81719615C>T uc001szo.2 - 21 2744 c.2583G>A c.(2581-2583)gaG>gaA p.E861E PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.E787E|PPFIA2_uc021rbh.1_Silent_p.E762E|PPFIA2_uc021rbi.1_Silent_p.E861E|PPFIA2_uc021rbj.1_Silent_p.E861E|PPFIA2_uc021rbk.1_Silent_p.E843E|PPFIA2_uc021rbl.1_Silent_p.E861E|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.E428E|PPFIA2_uc021rbf.1_Silent_p.E78E NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 787 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ACCCCAGGGACTCCTGAGCTG 0.418000 19 18 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60637129 60637129 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:60637129C>T uc001nqd.3 + 2 458 c.438C>T c.(436-438)tcC>tcT p.S146S ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 146 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CTCTGGACTCCCAGCTGGCAC 0.597000 25 9 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167330398 167330398 + Splice_Site SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:167330398G>A uc002udu.2 - 4 484 c.354_splice c.e4-1 p.P118_splice SCN7A_uc010fpm.2_Splice_Site NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 118 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 GTTGGAAAAAGGTAGCTTATA 0.259000 19 10 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43382152 43382152 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:43382152C>T uc002ovd.1 - 1 481 c.343G>A c.(343-345)Gag>Aag p.E115K PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.E115K|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.E115K|PSG3_uc002ova.2_Missense_Mutation_p.E115K|PSG3_uc002ouz.2_Missense_Mutation_p.E115K|PSG3_uc002ovb.3_Missense_Mutation_p.E115K NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 115 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CCTGCGTCCTCCCGGGTGACA 0.453000 135 61 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3755542 3755542 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:3755542G>A uc001aky.2 - 7 1236 c.877C>T c.(877-879)Ctg>Ttg p.L293L CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Silent_p.L293L NM_014704 NP_055519 O60308 CE104_HUMAN Homo sapiens centrosomal protein 104kDa (CEP104), mRNA. 293 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 TCGGCATCCAGGAGGCTGTGC 0.562000 156 36 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769144 88769144 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:88769144C>T uc001kee.2 + 11 2339 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 379 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CCGCCTTTCCCGTGTGCGATC 0.527000 186 66 0 0 1 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428581 128428581 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr8:128428581G>A uc003ysf.3 + 0 725 c.470G>A c.(469-471)aGg>aAg p.R157K LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA. 157 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 AAGCAGAAGAGGATCACCCTG 0.527000 18 5 0 0 1 0 0 MRGPRF 116535 broad.mit.edu 37 11 68772760 68772760 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:68772760C>T uc001ooo.4 - 2 1385 c.1018G>A c.(1018-1020)Ggg>Agg p.G340R MRGPRF_uc001oop.4_Missense_Mutation_p.G340R NM_001098515 NP_659452 Q96AM1 MRGRF_HUMAN Homo sapiens MAS-related GPR, member F (MRGPRF), transcript variant 1, mRNA. 340 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GAGGCGTTCCCCGGGGGACAC 0.687000 1 3 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136857249 136857249 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:136857249G>A uc004ces.3 - 0 198 c.152C>T c.(151-153)tCc>tTc p.S51F VAV2_uc004cer.3_Missense_Mutation_p.S51F NM_001134398 NP_001127870 P52735 VAV2_HUMAN Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA. 51 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|metal ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGAGCCGGGGGAGAGGTTGTG 0.726000 19 10 0 0 1 0 0 METTL17 64745 broad.mit.edu 37 14 21462981 21462981 + Missense_Mutation SNP T A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:21462981T>A uc001vyo.3 + 8 994 c.797T>A c.(796-798)tTt>tAt p.F266Y METTL17_uc001vym.3_Missense_Mutation_p.F266Y|METTL17_uc001vyn.3_Missense_Mutation_p.F266Y NM_001029991 NP_001025162 Q9H7H0 MET17_HUMAN Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA. 266 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GTGTCAGCTTTTTCCTTAAGT 0.453000 11 4 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44297195 44297195 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:44297195G>A uc001myb.3 - 1 584 c.480C>T c.(478-480)tcC>tcT p.S160S NM_021926 NP_068745 Q9H161 ALX4_HUMAN Homo sapiens ALX homeobox 4 (ALX4), mRNA. 160 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 GCTCACCCAGGGAGCTCTCTT 0.582000 27 5 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120611912 120611912 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:120611912G>A uc001txo.3 - 12 1168 c.1155C>T c.(1153-1155)atC>atT p.I385I NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 385 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTCAGCCACGATCCCATTCA 0.507000 17 4 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76633484 76633484 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:76633484G>A uc002bbw.1 + 4 883 c.805G>A c.(805-807)Gga>Aga p.G269R ISL2_uc021sqw.1_Non-coding_Transcript NM_145805 NP_665804 Q96A47 ISL2_HUMAN Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA. 269 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 GAGCCTTCAGGGACTGACTGG 0.627000 58 7 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73620622 73620622 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:73620622C>T uc001ouk.1 + 6 745 c.711C>T c.(709-711)tcC>tcT p.S237S PAAF1_uc001oul.1_Silent_p.S220S|PAAF1_uc001oum.1_Silent_p.S220S NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA. 237 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) ACCTTGGCTCCCCTGAGCAGA 0.473000 29 20 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20990868 20990868 + Splice_Site SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr16:20990868C>T uc010vbe.2 - 50 7860 c.7860_splice c.e50-1 p.E2620_splice DNAH3_uc010vbd.2_Splice_Site_p.E55_splice NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2620 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGACACGACCCTGCCGAGGA 0.473000 18 13 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89915686 89915686 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:89915686C>T uc010lep.3 + 13 1880 c.1629C>T c.(1627-1629)ggC>ggT p.G543G C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Silent_p.G218G|C7orf63_uc011khj.2_Silent_p.G525G|C7orf63_uc011khk.2_Silent_p.G105G NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA. 543 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TCCTATCTGGCCTTTGTGAGA 0.353000 54 24 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79313967 79313967 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:79313967C>T uc002sny.2 - 2 266 c.154G>A c.(154-156)Gaa>Aaa p.E52K REG1B_uc010ffv.1_Missense_Mutation_p.E52K|REG1B_uc010ffw.3_Missense_Mutation_p.E52K NM_006507 NP_006498 P48304 REG1B_HUMAN Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA. 52 C-type lectin. cell proliferation extracellular region sugar binding p.E52*(2) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 TCAGGGTCTTCATTAAAGTAG 0.532000 49 49 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479423 156479423 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:156479423C>T uc010jij.1 - 3 807 c.622G>A c.(622-624)Gtc>Atc p.V208I HAVCR1_uc011ddl.1_Missense_Mutation_p.V39I|HAVCR1_uc003lwi.2_Missense_Mutation_p.V208I|HAVCR1_uc021ygj.1_Missense_Mutation_p.V208I|HAVCR1_uc021ygk.1_Missense_Mutation_p.V39I|HAVCR1_uc011ddm.2_Missense_Mutation_p.V208I NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 203 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAGGTAGAGACAGTTGTTGTC 0.478000 177 27 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433302 104433302 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr9:104433302G>A uc004bbp.2 - 2 1993 c.1392C>T c.(1390-1392)ttC>ttT p.F464F GRIN3A_uc004bbq.1_Silent_p.F464F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 464 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) GATTCCAGATGAAAAAGTTGT 0.493000 121 31 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32369149 32369149 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr20:32369149C>T uc002wzy.3 + 10 1695 c.1675C>T c.(1675-1677)Ctg>Ttg p.L559L ZNF341_uc002wzx.3_Silent_p.L552L|ZNF341_uc010geq.3_Silent_p.L469L|ZNF341_uc010ger.3_Intron NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GGAGCACCACCTGCAGACCGC 0.557000 159 68 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72306417 72306417 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:72306417C>T uc010iic.3 + 7 1009 c.892C>T c.(892-894)Cct>Tct p.P298S SLC4A4_uc003hfy.3_Missense_Mutation_p.P298S|SLC4A4_uc010iib.3_Missense_Mutation_p.P298S|SLC4A4_uc003hfz.3_Missense_Mutation_p.P298S|SLC4A4_uc003hgc.4_Missense_Mutation_p.P254S|SLC4A4_uc003hga.2_Missense_Mutation_p.P176S|SLC4A4_uc003hgb.3_Missense_Mutation_p.P254S NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 298 P -> H (in Ref. 6; BAH58226). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTTGGATACTCCTTTCATTGC 0.488000 67 16 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110230202 110230202 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:110230202G>A uc001tpj.2 - 10 1952 c.1857C>T c.(1855-1857)ctC>ctT p.L619L TRPV4_uc001tpg.2_Silent_p.L585L|TRPV4_uc021rdp.1_Silent_p.L559L|TRPV4_uc001tph.2_Silent_p.L572L|TRPV4_uc001tpi.2_Silent_p.L512L|TRPV4_uc001tpk.2_Silent_p.L619L NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 619 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GCAAGTAGACGAGCAGGAATC 0.537000 15 4 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917510 186917510 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:186917510G>A uc003frg.3 + 1 474 c.444G>A c.(442-444)gaG>gaA p.E148E NM_153708 NP_714919 P59025 RTP1_HUMAN Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA. 148 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding p.E148K(1) breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TGCTGGAGGAGAACATCGAGG 0.692000 25 20 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568522 223568522 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:223568522G>A uc001hoa.2 + 0 1808 c.1705G>A c.(1705-1707)Gag>Aag p.E569K NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 569 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TAAGAAAAAGGAGCAGAGGGT 0.527000 30 6 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175917 55175917 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:55175917C>T uc002qgp.3 + 3 998 c.636C>T c.(634-636)ccC>ccT p.P212P LILRB4_uc002qgq.3_Silent_p.P212P|LILRB4_uc010ers.1_Silent_p.P125P|LILRB4_uc010ert.3_Silent_p.P253P|LILRB4_uc010eru.3_Silent_p.P241P NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 212 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCAGTGACCCCCTGGAGCTCA 0.612000 34 22 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5496380 5496380 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:5496380C>T uc001iia.3 + 8 1059 c.921C>T c.(919-921)ttC>ttT p.F307F NET1_uc010qar.2_Silent_p.F126F|NET1_uc001iib.3_Silent_p.F253F|NET1_uc010qas.2_Silent_p.F126F NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA. 307 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 TTTGGAGTTTCCTAGATATCC 0.433000 12 7 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20073669 20073669 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr22:20073669C>T uc002zri.3 + 1 612 c.183C>T c.(181-183)ctC>ctT p.L61L DGCR8_uc010grz.3_Silent_p.L61L|DGCR8_uc002zrj.3_5'Flank NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 61 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) AGTCCGAACTCCCTGCTGAGG 0.577000 72 21 0 0 1 0 0 WDR16 146845 broad.mit.edu 37 17 9490067 9490068 + Missense_Mutation DNP CC TT TT TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:9490067_9490068CC>TT uc010coc.3 + 3 582_583 c.353_354CC>TT c.(352-354)tcc>tTT p.S118F WDR16_uc002gly.3_Missense_Mutation_p.S108F|WDR16_uc002glz.3_Missense_Mutation_p.S40F Q8N1V2 WDR16_HUMAN Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA. 108 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 GCTCGGCTGTCCCTTCACAAAG 0.450000 15 13 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48239225 48239225 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:48239225G>A uc010rhs.2 + 0 864 c.864G>A c.(862-864)agG>agA p.R288R NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 ACACACTCAGGAATGCAGAGG 0.433000 35 13 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3342209 3342209 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:3342209C>T uc001akf.3 + 12 3086 c.3004C>T c.(3004-3006)Cac>Tac p.H1002Y PRDM16_uc001ake.3_Missense_Mutation_p.H1002Y|PRDM16_uc009vlh.3_Missense_Mutation_p.H702Y|PRDM16_uc001akc.3_Missense_Mutation_p.H1001Y NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1002 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCGGAACATCCACAACAAGGA 0.612000 T EVI1 """MDS, AML""" 80 28 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392768 178392768 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:178392768C>T uc003mjo.2 + 4 1664 c.1363C>T c.(1363-1365)Ctt>Ttt p.L455F ZNF454_uc010jkz.2_Missense_Mutation_p.L455F|ZNF454_uc021yjc.1_Missense_Mutation_p.L455F NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA. 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CCATTCAGCCCTTACCCAACA 0.408000 55 12 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124619760 124619760 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:124619760G>A uc001qas.3 - 3 506 c.430C>T c.(430-432)Ccc>Tcc p.P144S VSIG2_uc001qat.3_Missense_Mutation_p.P144S NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA. 144 Ig-like C2-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) TTACTGGGGGGAACTGCaaaa 0.458000 3 7 0 0 1 0 0 MEIS3P1 4213 broad.mit.edu 37 17 15690688 15690688 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:15690688C>T uc002gpc.3 + 0 525 c.504C>T c.(502-504)ttC>ttT p.F168F Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA. GGGGGATCTTCCCCAAGGTGG 0.607000 27 11 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25777909 25777909 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:25777909C>T uc003gru.4 - 16 2811 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K SEL1L3_uc003grv.3_Missense_Mutation_p.E294K NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 887 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CATGAACCTTCCAGGTAGGCA 0.413000 24 19 0 0 1 0 0 OR4D2 124538 broad.mit.edu 37 17 56247769 56247769 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:56247769C>T uc010wnp.2 + 0 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004707 NP_001004707 P58180 OR4D2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CCATGATCTTCGTTCCAAGCA 0.537000 122 18 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256910 63256910 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr5:63256910C>T uc011cqt.2 - 0 637 c.637G>A c.(637-639)Gtt>Att p.V213I NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 213 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCATAGAGAACCAGCATGAGC 0.572000 93 76 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987536 61987536 + Nonsense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr17:61987536G>A uc002jda.1 - 3 519 c.457C>T c.(457-459)Caa>Taa p.Q153* CSHL1_uc002jcz.1_Nonsense_Mutation_p.Q130*|CSHL1_uc002jdb.1_Nonsense_Mutation_p.Q59*|CSHL1_uc002jdc.1_Nonsense_Mutation_p.Q70*|CSHL1_uc002jdd.1_Nonsense_Mutation_p.Q91*|CSHL1_uc021ubn.1_3'UTR NM_022579 NP_001309 Q14406 CSHL_HUMAN Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA. 153 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATCAGCATTTGGATGCCTTCC 0.582000 78 18 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33134523 33134523 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:33134523C>T uc003ocx.1 - 58 4540 c.4312G>A c.(4312-4314)Ggc>Agc p.G1438S COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1352S|COL11A2_uc003ocz.1_Missense_Mutation_p.G1331S NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1438 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCAGGGGAGCCCTGAGGCCCA 0.632000 62 14 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43548796 43548796 + Nonsense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:43548796C>T uc001zrd.2 - 3 533 c.525G>A c.(523-525)tgG>tgA p.W175* TGM5_uc001zre.2_Nonsense_Mutation_p.W93* NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 175 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) ATGGGCGGATCCAGTTCTTGC 0.557000 218 43 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161132472 161132472 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:161132472C>T uc010pkc.2 + 5 1226 c.849C>T c.(847-849)ttC>ttT p.F283F USP21_uc010pkd.2_Silent_p.F283F|USP21_uc021pbv.1_5'Flank NM_001014443 NP_036607 Q9UK80 UBP21_HUMAN Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA. 283 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTACTCGATTCCGAGCTGTCT 0.547000 30 8 0 0 1 0 0 FAM101A 144347 broad.mit.edu 37 12 124798764 124798764 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:124798764C>T uc021rfy.1 + 4 607 c.101C>T c.(100-102)tCg>tTg p.S34L FAM101A_uc001ugd.2_Missense_Mutation_p.S34L|FAM101A_uc001uge.2_Missense_Mutation_p.S34L NM_001204299 NP_001191228 Q6ZTI6 F101A_HUMAN Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA. 115 endometrium(1)|kidney(1)|lung(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) AAGTACGCCTCGGAGAAGCAT 0.612000 43 12 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110234393 110234393 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr12:110234393G>A uc001tpj.2 - 5 1364 c.1269C>T c.(1267-1269)tcC>tcT p.S423S TRPV4_uc001tpg.2_Silent_p.S389S|TRPV4_uc021rdp.1_Intron|TRPV4_uc001tph.2_Silent_p.S376S|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Silent_p.S423S NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 423 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 ACGTGTCCAGGGAGGAGAGGT 0.607000 44 18 0 0 1 0 0 HEPACAM 220296 broad.mit.edu 37 11 124793326 124793326 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:124793326C>T uc001qbk.3 - 3 1119 c.713G>A c.(712-714)aGa>aAa p.R238K HEPACAM_uc009zbj.3_5'UTR|HEPACAM_uc001qbl.1_Missense_Mutation_p.R238K NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 238 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AAGGGAGCTTCTTCCTAGGGA 0.537000 13 14 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107199151 107199151 + RNA SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr14:107199151G>A uc021ser.1 - 16 c.1538C>T Parts of antibodies, mostly variable regions. CACTGAAGGTGAATCCAGAGG 0.587000 29 49 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15326390 15326390 + RNA SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:15326390C>T uc002yji.2 - 1 c.825G>A Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA. TTCTCACCTTCTCCTTTTCCA 0.468000 48 11 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125631632 125631632 + Missense_Mutation SNP A G G TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:125631632A>G uc010inw.3 - 1 1073 c.35T>C c.(34-36)aTg>aCg p.M12T ANKRD50_uc011cgo.2_Intron NM_020337 NP_001161354 Q9ULJ7 ANR50_HUMAN Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA. 12 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GGTTTGAGCCATTTTGCAGAC 0.423000 69 37 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150440140 150440140 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:150440140C>T uc022apw.1 + 5 1665 c.1525C>T c.(1525-1527)Cat>Tat p.H509Y GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.H305Y NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GTTCATCTTTCATTACATTTA 0.363000 29 21 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271830 59271830 + Missense_Mutation SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr11:59271830C>T uc001noa.1 + 0 782 c.782C>T c.(781-783)cCc>cTc p.P261L NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA. 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R260L(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TATGCCCGGCCCTTCACTGCC 0.557000 149 53 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52940138 52940138 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:52940138G>A uc003dgf.3 - 20 3074 c.2451C>T c.(2449-2451)ttC>ttT p.F817F SFMBT1_uc010hmr.3_Intron|SFMBT1_uc003dgg.3_Silent_p.F817F|SFMBT1_uc003dgh.3_Silent_p.F817F NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 817 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CCTGGTCTAGGAATATTCTTG 0.383000 38 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9024180 9024180 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:9024180C>T uc002mkp.3 - 17 37296 c.37092G>A c.(37090-37092)gtG>gtA p.V12364V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12366 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 TTCTGAGATCCACTGTGGAGG 0.468000 6 3 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566006 142566006 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr7:142566006G>A uc011kst.2 + 13 2713 c.1926G>A c.(1924-1926)gtG>gtA p.V642V EPHB6_uc011ksu.2_Silent_p.V642V|EPHB6_uc003wbs.3_Silent_p.V350V|EPHB6_uc003wbt.3_Silent_p.V116V|EPHB6_uc003wbu.3_Silent_p.V350V|EPHB6_uc003wbv.3_Silent_p.V26V NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 642 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GACTCGGGGTGAAGTATTACA 0.567000 78 20 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38690955 38690955 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:38690955G>A uc021yzh.1 + 1 479 c.370G>A c.(370-372)Gaa>Aaa p.E124K DNAH8_uc003ooe.2_5'UTR NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAATCTACAGGAAACATTAAA 0.438000 34 28 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508808 24508808 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:24508808C>T uc001iru.4 + 1 727 c.324C>T c.(322-324)atC>atT p.I108I KIAA1217_uc001irs.3_Silent_p.I28I|KIAA1217_uc001irt.4_Silent_p.I108I|KIAA1217_uc010qcy.2_Silent_p.I108I|KIAA1217_uc010qcz.2_Silent_p.I108I NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 108 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCTCTGCAATCATGGGTCACC 0.478000 28 17 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887590 97887590 + Missense_Mutation SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr3:97887590G>A uc011bgu.2 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 GTTCTCACAGGATTTTTATAT 0.393000 120 24 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32166241 32166241 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr6:32166241C>T uc003obb.3 - 25 4852 c.4713G>A c.(4711-4713)caG>caA p.Q1571Q GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Silent_p.Q231Q|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1571 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCTCAGATTCCTGGGGAGGAG 0.547000 29 20 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115398181 115398181 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr1:115398181C>T uc001efr.3 + 1 305 c.96C>T c.(94-96)tcC>tcT p.S32S SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.S32S|SYCP1_uc009wgw.3_Silent_p.S32S NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 32 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGCGATTCCACTTTCTTCA 0.423000 36 11 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47226080 47226080 + Silent SNP G A A TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr19:47226080G>A uc002pfm.3 - 13 1947 c.1914C>T c.(1912-1914)tcC>tcT p.S638S STRN4_uc002pfl.3_Silent_p.S631S|STRN4_uc010xyf.2_Non-coding_Transcript NM_001039877 NP_001034966 Q9NRL3 STRN4_HUMAN Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA. 631 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGCTGCCCCGGGACTCCAGCG 0.627000 73 30 0 0 1 0 0 C15orf32 145858 broad.mit.edu 37 15 93015490 93015491 + Missense_Mutation DNP GG AA AA TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:93015490_93015491GG>AA uc002brc.1 + 0 584_585 c.112_113GG>AA c.(112-114)gga>AAa p.G38K C15orf32_uc010bod.1_Non-coding_Transcript NM_153040 NP_694585 Q32M92 CO032_HUMAN Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA. 38 p.G38*(4)|p.R37K(1) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) TTCCCCAAGAGGAGAAGGAACG 0.545000 167 11 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74274316 74274316 + Silent SNP C T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr4:74274316C>T uc003hgs.4 + 3 349 c.276C>T c.(274-276)acC>acT p.T92T ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_5'UTR NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 92 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TTTAGCATACCCTTTTTGGAG 0.383000 22 3 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179251823 179251828 + In_Frame_Del DEL ATGGAA - - TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr2:179251823_179251828delATGGAA uc002uly.3 + 20 2732_2737 c.2188_2193delATGGAA c.(2188-2193)atggaadel p.ME730del MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_In_Frame_Del_p.ME705del|OSBPL6_uc010zfe.2_In_Frame_Del_p.ME674del|OSBPL6_uc002ulz.3_In_Frame_Del_p.ME669del|OSBPL6_uc002uma.3_In_Frame_Del_p.ME709del NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 705 lipid transport lipid binding p.V729G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GGGGAAGTCGATGGAAATCCTGCCTG 0.403 --- 7 --- --- 5 --- PHYHIPL 84457 broad.mit.edu 37 10 60998422 60998423 + Frame_Shift_Ins INS - T T TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr10:60998422_60998423insT uc001jkk.4 + 3 819_820 c.553_554insT c.(553-555)gttfs p.V185fs PHYHIPL_uc001jkl.4_Frame_Shift_Ins_p.V139fs|PHYHIPL_uc001jkm.4_Frame_Shift_Ins_p.V159fs NM_032439 NP_115815 Q96FC7 PHIPL_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA. 185 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 TAAGTTTTCTGTTTTTTATCGT 0.312 --- 60 --- --- 16 --- DNM1P46 196968 broad.mit.edu 37 15 100332359 100332359 + RNA DEL G - - TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr15:100332359delG uc021sxl.1 - 1 c.794delC DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA. GGGCAGGGGTGGGTGTTGCTG 0.612 --- 98 --- --- 21 --- PKNOX1 5316 broad.mit.edu 37 21 44427659 44427677 + Frame_Shift_Del DEL CAGAAGGAGTGAGCCCTCC - - TCGA-EB-A431-01A-11D-A25O-08 TCGA-EB-A431-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx FF6B2477-82A6-44BF-A9B4-2D691D3D0CB9 83E98B10-CE20-443A-B403-A07FA2413BCA g.chr21:44427659_44427677delCAGAAGGAGTGAGCCCTCC uc002zcq.1 + 2 298_316 c.110_128delCAGAAGGAGTGAGCCCTCC c.(109-129)gcagaaggagtgagccctcccfs p.A37fs PKNOX1_uc002zcp.1_Frame_Shift_Del_p.A37fs|PKNOX1_uc011aex.1_5'UTR|PKNOX1_uc002zcr.3_Frame_Shift_Del_p.A37fs NM_004571 NP_004562 P55347 PKNX1_HUMAN Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA. 37 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GAACCCGATGCAGAAGGAGTGAGCCCTCCCCCTGTGGAG 0.507 --- 119 --- --- 11 ---