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 TTC22 55001 broad.mit.edu 37 1 55266546 55266546 + Silent SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:55266546C>T uc009vzt.1 - 0 396 c.291G>A c.(289-291)ccG>ccA p.P97P TTC22_uc001cxz.4_Silent_p.P97P NM_001114108 NP_001107580 Q5TAA0 TTC22_HUMAN Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA. 97 binding kidney(1)|large_intestine(1)|lung(7)|skin(1) 10 TGAGGTTGCCCGGGTGCTCGT 0.687 SPAG17 200162 broad.mit.edu 37 1 118624163 118624163 + Missense_Mutation SNP C C G TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:118624163C>G uc001ehk.2 - 13 1933 c.1865G>C c.(1864-1866)gGg>gCg p.G622A SPAG17_uc021oss.1_5'Flank NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 622 cilium|flagellar axoneme|microtubule p.G622G(1) 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) ACACATCATCCCAGAAGGTTT 0.428 ADAM30 11085 broad.mit.edu 37 1 120438344 120438344 + Missense_Mutation SNP C C G TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:120438344C>G uc001eij.3 - 0 804 c.616G>C c.(616-618)Gaa>Caa p.E206Q NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 206 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) AGGATCAATTCCAAGTACTTT 0.403 GPR52 9293 broad.mit.edu 37 1 174417320 174417320 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:174417320G>A uc001gka.1 + 0 109 c.71G>A c.(70-72)cGt>cAt p.R24H 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. 24 integral to plasma membrane G-protein coupled receptor activity p.R24H(2) breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 GTGTCCGAGCGTCACTCCTGC 0.483 HMCN1 83872 broad.mit.edu 37 1 186056355 186056355 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:186056355G>A uc001grq.1 + 58 9282 c.9053G>A c.(9052-9054)cGa>cAa p.R3018Q MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3018 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACAGGTGGTCGAACTCTACAG 0.383 COG2 22796 broad.mit.edu 37 1 230807312 230807312 + Missense_Mutation SNP G G C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:230807312G>C uc001htw.3 + 7 976 c.825G>C c.(823-825)atG>atC p.M275I COG2_uc001htx.3_Missense_Mutation_p.M275I|COG2_uc010pwc.2_Missense_Mutation_p.M148I NM_007357 NP_031383 Q14746 COG2_HUMAN Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA. 275 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 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) TTCAGGTCATGTATAATAAAC 0.393 PCNXL2 80003 broad.mit.edu 37 1 233394169 233394169 + Missense_Mutation SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr1:233394169T>C uc001hvl.2 - 4 1674 c.1439A>G c.(1438-1440)aAg>aGg p.K480R 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. 480 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) ACTGTGATCCTTGATGGCATT 0.542 OR56A4 120793 broad.mit.edu 37 11 6023660 6023660 + Missense_Mutation SNP G G A rs116778909 by1000genomes TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr11:6023660G>A uc010qzv.2 - 0 719 c.719C>T c.(718-720)tCc>tTc p.S240F NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA. 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S240F(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAGAGTTTGGACACAGACAG 0.443 NAT10 55226 broad.mit.edu 37 11 34129864 34129864 + Missense_Mutation SNP A A C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr11:34129864A>C uc001mvk.3 + 1 336 c.92A>C c.(91-93)gAt>gCt p.D31A NAT10_uc010ren.2_Intron NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA. 31 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GTAGTTGGGGATCGAGGAAAA 0.423 TRIM51 84767 broad.mit.edu 37 11 55653246 55653246 + Silent SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr11:55653246G>A uc010rip.2 + 1 434 c.342G>A c.(340-342)ccG>ccA p.P114P TRIM51_uc010riq.2_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 114 intracellular zinc ion binding TCTGTTTGCCGTGCTCCAACT 0.507 OR8K3 219473 broad.mit.edu 37 11 56086106 56086106 + Missense_Mutation SNP T T G TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr11:56086106T>G uc010rjf.2 + 0 324 c.324T>G c.(322-324)atT>atG p.I108M NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TTGTGTTCATTGGTAGTGAAC 0.378 TPCN2 219931 broad.mit.edu 37 11 68854047 68854047 + Missense_Mutation SNP A A G rs150476703 TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr11:68854047A>G uc001oos.2 + 22 2176 c.2060A>G c.(2059-2061)aAc>aGc p.N687S TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Non-coding_Transcript NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN Homo sapiens two pore segment channel 2 (TPCN2), mRNA. 687 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ATCTGGGTCAACCTGTTTCTG 0.532 SLCO1A2 6579 broad.mit.edu 37 12 21457447 21457447 + Missense_Mutation SNP C C T rs148616059 byFrequency TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr12:21457447C>T uc001rer.3 - 4 754 c.503G>A c.(502-504)cGt>cAt p.R168H SLCO1A2_uc010siq.2_Missense_Mutation_p.R36H|SLCO1A2_uc001res.3_Missense_Mutation_p.R168H|SLCO1A2_uc010sio.2_Missense_Mutation_p.R36H|SLCO1A2_uc010sip.2_Missense_Mutation_p.R36H|SLCO1A2_uc001ret.3_Missense_Mutation_p.R166H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R148H NM_021094 NP_602307 P46721 SO1A2_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA. 168 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.R168C(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 ACCCATTCCACGTACAATATT 0.348 DDX11 1663 broad.mit.edu 37 12 31255360 31255360 + Splice_Site SNP G G T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr12:31255360G>T uc001rjt.1 + 23 2523 c.2272_splice c.e23-1 p.A758_splice DDX11_uc001rjr.1_Splice_Site_p.A758_splice|DDX11_uc001rjs.1_Splice_Site_p.A708_splice|DDX11_uc001rju.1_Splice_Site_p.A430_splice|DDX11_uc001rjv.1_Splice_Site_p.A758_splice|DDX11_uc001rjw.1_Splice_Site_p.A732_splice|DDX11_uc009zjn.1_Splice_Site|DDX11_uc009zjo.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA. 758 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTCTCCTACAGGCCTGTGGCC 0.577 Multiple Myeloma(12;0.14) NUP107 57122 broad.mit.edu 37 12 69124921 69124921 + Missense_Mutation SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr12:69124921T>C uc001suf.3 + 20 1881 c.1766T>C c.(1765-1767)aTa>aCa p.I589T NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.I560T NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 589 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex 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) ACAAATCTTATAGCATTTTAT 0.303 TRHDE 29953 broad.mit.edu 37 12 73014949 73014949 + Missense_Mutation SNP T T A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr12:73014949T>A uc001sxa.3 + 13 2426 c.2396T>A c.(2395-2397)tTt>tAt p.F799Y NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 799 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 AAAAATAATTTTAATGGATCT 0.323 HCAR3 8843 broad.mit.edu 37 12 123200283 123200283 + Silent SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr12:123200283G>A uc001ucy.4 - 0 1157 c.1002C>T c.(1000-1002)gaC>gaT p.D334D HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 334 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) TTTTGTTGGGGTCCCCTGTGA 0.542 FLT3 2322 broad.mit.edu 37 13 28592705 28592705 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr13:28592705C>T uc001urw.3 - 19 2522 c.2440G>A c.(2440-2442)Gcc>Acc p.A814T FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 814 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ACGTTCCTGGCGGCCAGGTCT 0.453 """Mis, O""" """AML, ALL""" YLPM1 56252 broad.mit.edu 37 14 75264755 75264755 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr14:75264755G>A uc001xqj.4 + 4 2879 c.2755G>A c.(2755-2757)Gta>Ata p.V919I YLPM1_uc001xql.4_Non-coding_Transcript NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 724 Arg-rich. 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) GGAAGGGCCCGTAGAGCCCTC 0.483 SETD3 84193 broad.mit.edu 37 14 99866491 99866491 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr14:99866491G>A uc001ygc.3 - 11 1453 c.1283C>T c.(1282-1284)aCa>aTa p.T428I NM_032233 NP_115609 Q86TU7 SETD3_HUMAN Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA. 428 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity p.W427*(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) ttcaagaaatgtccaaagttt 0.373 HDC 3067 broad.mit.edu 37 15 50534686 50534686 + Missense_Mutation SNP C C A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr15:50534686C>A uc001zxz.3 - 11 2102 c.1760G>T c.(1759-1761)tGc>tTc p.C587F HDC_uc001zxy.3_Missense_Mutation_p.C330F|HDC_uc010uff.2_Missense_Mutation_p.C554F NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 587 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) CACACTGTTGCAACTGAGGGA 0.542 CTC1 80169 broad.mit.edu 37 17 8136310 8136310 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:8136310C>T uc002gkq.4 - 10 1918 c.1859G>A c.(1858-1860)tGt>tAt p.C620Y CTC1_uc010cnv.3_Non-coding_Transcript NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA. 620 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 AAGTTGCAGACAACCTTTATG 0.483 NUFIP2 57532 broad.mit.edu 37 17 27613998 27613998 + Silent SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:27613998T>C uc002hdy.4 - 1 1103 c.1014A>G c.(1012-1014)aaA>aaG p.K338K NUFIP2_uc002hdx.4_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA. 338 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) CTGGGGGTGGTTTAAATAGGG 0.413 NF1 4763 broad.mit.edu 37 17 29556163 29556163 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:29556163C>T uc002hgg.3 + 20 2913 c.2530C>T c.(2530-2532)Ctt>Ttt p.L844F NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 844 L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GACTGGCTTCCTTTGTGCCCT 0.517 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) GAS2L2 246176 broad.mit.edu 37 17 34073181 34073181 + Silent SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:34073181G>A uc002hjv.2 - 5 1363 c.1335C>T c.(1333-1335)gcC>gcT p.A445A NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 445 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTTTGGTGGTGGCCTCAATGG 0.612 KRT28 162605 broad.mit.edu 37 17 38953242 38953242 + Missense_Mutation SNP C C T rs146193469 byFrequency TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:38953242C>T uc002hvh.1 - 4 970 c.904G>A c.(904-906)Gcc>Acc p.A302T NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN Homo sapiens keratin 28 (KRT28), mRNA. 302 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TGGCTCCGGGCGAAAGTGGCT 0.662 MTMR4 9110 broad.mit.edu 37 17 56581411 56581411 + Missense_Mutation SNP C C A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:56581411C>A uc002iwj.2 - 14 1766 c.1656_splice c.e14+1 p.M552_splice NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 552 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCAGACTCACCATGTCTGAGC 0.483 MTMR4 9110 broad.mit.edu 37 17 56585838 56585838 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:56585838C>T uc002iwj.2 - 6 652 c.542G>A c.(541-543)aGc>aAc p.S181N NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN Homo sapiens myotubularin related protein 4 (MTMR4), mRNA. 181 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTGTAGTTGCTGTTGATGTG 0.527 GH1 2688 broad.mit.edu 37 17 61995152 61995152 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:61995152C>T uc002jdj.3 - 3 486 c.424G>A c.(424-426)Gac>Aac p.D142N GH1_uc002jdi.3_Missense_Mutation_p.D127N|GH1_uc002jdk.3_Missense_Mutation_p.D102N|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron NM_000515 NP_000506 P01241 SOMA_HUMAN Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA. 142 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 TCCTCTAGGTCCTTTAGGAGG 0.587 ICAM2 3384 broad.mit.edu 37 17 62080238 62080238 + Missense_Mutation SNP C C A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:62080238C>A uc002jdu.4 - 3 929 c.697G>T c.(697-699)Gtg>Ttg p.V233L C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.V233L|ICAM2_uc010ded.3_Missense_Mutation_p.V233L|ICAM2_uc002jdx.4_Missense_Mutation_p.V233L|ICAM2_uc002jdv.4_Missense_Mutation_p.V233L NM_000873 NP_001093259 P13598 ICAM2_HUMAN Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA. 233 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 GACAGCAACACCGACACCACC 0.612 FADS6 283985 broad.mit.edu 37 17 72878745 72878745 + Silent SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:72878745C>T uc002jmd.1 - 2 465 c.453G>A c.(451-453)acG>acA p.T151T FADS6_uc010wrn.1_Missense_Mutation_p.R68H NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA. 157 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) GCAGCCTCCACGTGCTGGAGT 0.602 SLC26A11 284129 broad.mit.edu 37 17 78195495 78195495 + Nonsense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr17:78195495C>T uc002jyb.2 + 2 442 c.136C>T c.(136-138)Cag>Tag p.Q46* SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc002jyd.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc010dhv.2_Nonsense_Mutation_p.Q46* NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 46 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTACTCCCTGCAGTGGCTGAA 0.687 REXO1 57455 broad.mit.edu 37 19 1828079 1828079 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr19:1828079G>A uc002lua.4 - 1 804 c.709C>T c.(709-711)Ctc>Ttc p.L237F REXO1_uc010dsr.1_Missense_Mutation_p.L191F NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA. 237 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) TAGTTGGAGAGAGGGTCATAC 0.701 ANO8 57719 broad.mit.edu 37 19 17436028 17436028 + Silent SNP G G A rs144454643 TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr19:17436028G>A uc002ngf.2 - 16 2988 c.2829C>T c.(2827-2829)tcC>tcT p.S943S ANO8_uc010eap.2_Non-coding_Transcript NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN Homo sapiens anoctamin 8 (ANO8), mRNA. 943 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 AGGCCTTCTCGGAGGAGGTGG 0.692 CEACAM21 90273 broad.mit.edu 37 19 42083911 42083911 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr19:42083911G>A uc002ore.4 + 2 520 c.424_splice c.e2+1 p.E142_splice CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.4_Splice_Site_p.E142_splice NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA. 142 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CCGTGTATACGGTGAGTGATT 0.522 NTF4 4909 broad.mit.edu 37 19 49564974 49564974 + Missense_Mutation SNP A A C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr19:49564974A>C uc002pmf.4 - 1 417 c.281T>G c.(280-282)cTg>cGg p.L94R NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.L94R NM_006179 NP_006170 P34130 NTF4_HUMAN Homo sapiens neurotrophin 4 (NTF4), mRNA. 94 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GCACACAGCCAGCTCACCCCG 0.692 KLK6 5653 broad.mit.edu 37 19 51466671 51466671 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr19:51466671C>T uc002puh.3 - 2 424 c.359G>A c.(358-360)cGc>cAc p.R120H KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H NM_001012965 NP_001012983 Q92876 KLK6_HUMAN Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA. 111 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GCGTGCCAGGCGCAACAGCAT 0.617 ZSCAN22 342945 broad.mit.edu 37 19 58850588 58850588 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr19:58850588C>T uc002qsc.2 + 2 1519 c.1372C>T c.(1372-1374)Cac>Tac p.H458Y ZSCAN22_uc010yhz.1_3'UTR NM_181846 NP_862829 P10073 ZSC22_HUMAN Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA. 458 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CCAGAGGATCCACACGGGAGA 0.542 C2orf16 84226 broad.mit.edu 37 2 27801373 27801373 + Missense_Mutation SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr2:27801373T>C uc002rkz.4 + 0 1985 c.1934T>C c.(1933-1935)gTa>gCa p.V645A NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 645 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GAACTGATAGTACCTGCAGAA 0.403 SLC9A4 389015 broad.mit.edu 37 2 103149074 103149074 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr2:103149074C>T uc002tbz.4 + 11 2781 c.2324C>T c.(2323-2325)tCg>tTg p.S775L NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 775 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity p.R774W(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GAGGTTCGGTCGAGGTGGACA 0.517 LRP2 4036 broad.mit.edu 37 2 169985569 169985569 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr2:169985569C>T uc002ues.3 - 77 13967 c.13754G>A c.(13753-13755)cGa>cAa p.R4585Q NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4585 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R4585*(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTTAGATTTTCGTTTGAAGAG 0.313 TTN 7273 broad.mit.edu 37 2 179463526 179463526 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr2:179463526C>T uc021vsy.1 - 239 49432 c.49207G>A c.(49207-49209)Gtg>Atg p.V16403M MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17330 Ig-like 100. 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) GCTGGACCCACGCCAGCAGCA 0.428 PID1 55022 broad.mit.edu 37 2 229890703 229890703 + Missense_Mutation SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr2:229890703T>C uc002vpr.4 - 2 436 c.398A>G c.(397-399)aAt>aGt p.N133S PID1_uc002vps.4_Missense_Mutation_p.N131S|PID1_uc002vpt.4_Missense_Mutation_p.N100S|PID1_uc002vpu.4_Missense_Mutation_p.N51S NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 133 PID. cytoplasm 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) CAGGAGGGCATTGGCCGGAAA 0.557 COL6A3 1293 broad.mit.edu 37 2 238285526 238285526 + Missense_Mutation SNP C C T rs140437593 byFrequency TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr2:238285526C>T uc002vwl.2 - 6 3244 c.2959G>A c.(2959-2961)Gtg>Atg p.V987M COL6A3_uc002vwo.2_Missense_Mutation_p.V781M|COL6A3_uc010znj.1_Missense_Mutation_p.V380M|COL6A3_uc002vwq.3_Missense_Mutation_p.V781M|COL6A3_uc002vwr.3_Missense_Mutation_p.V580M|COL6A3_uc010znk.1_Missense_Mutation_p.V787M NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 987 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAGACAGCACGATCTGCTCT 0.512 SLC35C2 51006 broad.mit.edu 37 20 44979115 44979115 + Missense_Mutation SNP A A G TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr20:44979115A>G uc010zxp.2 - 10 1196 c.1103T>C c.(1102-1104)cTg>cCg p.L368P SLC35C2_uc002xro.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrp.3_Missense_Mutation_p.L318P|SLC35C2_uc002xrq.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrr.3_Missense_Mutation_p.L339P|SLC35C2_uc010zxn.2_Missense_Mutation_p.L204P|SLC35C2_uc010zxo.2_Missense_Mutation_p.L225P NM_173179 NP_775271 Q9NQQ7 S35C2_HUMAN Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA. 339 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) CAGCAGCTCCAGGTCGGGGCT 0.617 PTGIS 5740 broad.mit.edu 37 20 48129691 48129691 + Nonsense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr20:48129691G>A uc002xut.3 - 7 1186 c.1132C>T c.(1132-1134)Cga>Tga p.R378* PTGIS_uc010zyi.2_Nonsense_Mutation_p.R239* NM_000961 NP_000952 Q16647 PTGIS_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA. 378 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) TCACCACGTCGCAGGTTGAAT 0.612 PKDREJ 10343 broad.mit.edu 37 22 46657006 46657006 + Silent SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr22:46657006G>A uc003bhh.3 - 0 2214 c.2214C>T c.(2212-2214)atC>atT p.I738I NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 738 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAGACTGATCGATGAGGTGTT 0.408 CACNA1D 776 broad.mit.edu 37 3 53769408 53769408 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr3:53769408G>A uc003dgv.4 + 19 2792 c.2629G>A c.(2629-2631)Gta>Ata p.V877I CACNA1D_uc003dgu.4_Missense_Mutation_p.V897I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V877I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V544I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V25I NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 877 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) CAGGATCCGCGTAGGCTGCCA 0.587 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr3:178936091G>A uc003fjk.3 + 9 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) CSN2 1447 broad.mit.edu 37 4 70823297 70823297 + Missense_Mutation SNP G G T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr4:70823297G>T uc003hes.4 - 4 383 c.370C>A c.(370-372)Ccc>Acc p.P124T CSN2_uc003het.4_Missense_Mutation_p.P123T NM_001891 NP_001882 P05814 CASB_HUMAN Homo sapiens casein beta (CSN2), mRNA. 124 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 TCAAAAAAGGGTATCGTTGGA 0.483 KIAA1109 84162 broad.mit.edu 37 4 123200986 123200986 + Missense_Mutation SNP G G T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr4:123200986G>T uc003ieh.3 + 48 8693 c.8648G>T c.(8647-8649)gGg>gTg p.G2883V KIAA1109_uc003iel.1_Missense_Mutation_p.G818V NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 2883 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCCCAAAGAGGGCTGAAGACA 0.433 ADAMTS16 170690 broad.mit.edu 37 5 5262847 5262847 + Nonsense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr5:5262847C>T uc003jdl.3 + 17 2878 c.2740C>T c.(2740-2742)Cga>Tga p.R914* ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R914* NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 914 TSP type-1 2. 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 TCCCAAGACACGACCTGTCAC 0.512 PCDHB15 56121 broad.mit.edu 37 5 140627258 140627258 + Silent SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr5:140627258G>A uc003lje.3 + 0 2112 c.2112G>A c.(2110-2112)tcG>tcA p.S704S NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 704 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTCTTCTCGGTGTTCCTGT 0.682 KCTD16 57528 broad.mit.edu 37 5 143586570 143586570 + Missense_Mutation SNP A A T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr5:143586570A>T uc003lnm.1 + 2 922 c.293A>T c.(292-294)gAt>gTt p.D98V KCTD16_uc003lnn.1_Missense_Mutation_p.D98V NM_020768 NP_065819 Q68DU8 KCD16_HUMAN Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA. 98 BTB. cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GTCCTGCCTGATCACTTTCCA 0.478 OR12D2 26529 broad.mit.edu 37 6 29364556 29364556 + Missense_Mutation SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr6:29364556T>C uc003nmf.4 + 0 141 c.80T>C c.(79-81)gTg>gCg p.V27A NM_013936 NP_039224 P58182 O12D2_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TTTCTCTTCGTGGTTTTCCTC 0.438 UBD 10537 broad.mit.edu 37 6 29523710 29523710 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr6:29523710C>T uc003nmo.3 - 1 669 c.445G>A c.(445-447)Ggc>Agc p.G149S GABBR1_uc003nmp.4_3'UTR NM_006398 NP_006389 O15205 UBD_HUMAN Homo sapiens ubiquitin D (UBD), mRNA. 149 Ubiquitin 2. aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process aggresome|cytoplasm|nucleus proteasome binding kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 TTTCTGATGCCGTAATCTGCC 0.473 COL12A1 1303 broad.mit.edu 37 6 75840567 75840567 + Splice_Site SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr6:75840567C>T uc021zbv.1 - 35 6102 c.6067_splice c.e35+1 p.L2023_splice COL12A1_uc021zbw.1_Splice_Site_p.L859_splice|COL12A1_uc003phs.3_Splice_Site_p.L2023_splice|COL12A1_uc003pht.3_Splice_Site_p.L859_splice NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2023 cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTCTGCCTCACGCGTTCGGCC 0.562 THEMIS 387357 broad.mit.edu 37 6 128134889 128134889 + Silent SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr6:128134889G>A uc011ebt.2 - 3 1046 c.897C>T c.(895-897)agC>agT p.S299S THEMIS_uc010kfa.3_Silent_p.S202S|THEMIS_uc021zfa.1_Silent_p.S299S|THEMIS_uc010kfb.3_Silent_p.S264S NM_001164685 NP_001158157 Q8N1K5 THMS1_HUMAN Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA. 299 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 GCTGTAAAATGCTTTGGGGCA 0.393 GPR126 57211 broad.mit.edu 37 6 142736934 142736934 + Frame_Shift_Del DEL A A - TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr6:142736934delA uc010khe.3 + 20 3081 c.2670_splice c.e20-1 p.E890_splice GPR126_uc010khc.3_Splice_Site_p.E890_splice|GPR126_uc010khd.3_Splice_Site_p.E862_splice|GPR126_uc010khf.3_Splice_Site_p.E862_splice NM_198569 NP_940971 Q86SQ4 GP126_HUMAN Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA. 890 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) ATTTTTTAGGAAATTGCGAAG 0.398 SEMA3E 9723 broad.mit.edu 37 7 83016344 83016344 + Nonsense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr7:83016344G>A uc003uhy.2 - 14 2311 c.1690C>T c.(1690-1692)Cga>Tga p.R564* SEMA3E_uc022agy.1_Nonsense_Mutation_p.R504* 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. 564 axon guidance extracellular space|membrane receptor activity p.R564Q(1) 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) TTTCCATGTCGAACATCTTGT 0.363 COL1A2 1278 broad.mit.edu 37 7 94052404 94052404 + Missense_Mutation SNP G G A rs72658196 TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr7:94052404G>A uc003ung.1 + 39 3010 c.2539G>A c.(2539-2541)Ggt>Agt p.G847S COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 847 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.G847S(2) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGAGAAGGGTCCCTCTGG 0.502 HNSCC(75;0.22) TRIM4 89122 broad.mit.edu 37 7 99516919 99516919 + Missense_Mutation SNP G G T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr7:99516919G>T uc003usd.3 - 0 305 c.106C>A c.(106-108)Ctg>Atg p.L36M TRIM4_uc003use.3_Missense_Mutation_p.L36M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.L36M NM_033017 NP_148977 Q9C037 TRIM4_HUMAN Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA. 36 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) TTGCGGTGCAGGCAGCCGCGG 0.701 OR2A12 346525 broad.mit.edu 37 7 143792582 143792582 + Missense_Mutation SNP C C A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr7:143792582C>A uc011kty.2 + 0 382 c.382C>A c.(382-384)Ccc>Acc p.P128T NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AATCTGTCACCCCTTGCAATA 0.433 PTK2B 2185 broad.mit.edu 37 8 27301729 27301729 + Nonsense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr8:27301729C>T uc003xfn.2 + 27 2963 c.2155C>T c.(2155-2157)Cga>Tga p.R719* PTK2B_uc022ate.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfp.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfq.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfr.1_Nonsense_Mutation_p.R465* NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 719 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CCAGCCCAGCCGACCTAAGTA 0.542 ZC2HC1A 51101 broad.mit.edu 37 8 79590915 79590915 + Splice_Site SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr8:79590915G>A uc003ybd.3 + 3 312 c.210_splice c.e3+1 p.R70_splice NM_016010 NP_057094 Q96GY0 F164A_HUMAN Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA. 70 CAAACCGAGGGTAACTATATA 0.333 RAD54B 25788 broad.mit.edu 37 8 95403893 95403893 + Missense_Mutation SNP T T A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr8:95403893T>A uc003ygk.3 - 9 1884 c.1753A>T c.(1753-1755)Ata>Tta p.I585L RAD54B_uc010may.2_Missense_Mutation_p.I401L|RAD54B_uc003ygl.2_Non-coding_Transcript NM_012415 NP_001192192 O95073 FSBP_HUMAN Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA. 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) AGAGCTCCTATACATATTAGA 0.408 Direct reversal of damage;Homologous recombination PLEC 5339 broad.mit.edu 37 8 144990758 144990758 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr8:144990758C>T uc003zaf.1 - 31 13812 c.13642G>A c.(13642-13644)Gcc>Acc p.A4548T PLEC_uc003zab.1_Missense_Mutation_p.A4411T|PLEC_uc003zac.1_Missense_Mutation_p.A4415T|PLEC_uc003zad.2_Missense_Mutation_p.A4411T|PLEC_uc003zae.1_Missense_Mutation_p.A4379T|PLEC_uc003zag.1_Missense_Mutation_p.A4389T|PLEC_uc003zah.2_Missense_Mutation_p.A4397T|PLEC_uc003zaj.2_Missense_Mutation_p.A4438T NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 4548 Globular 2. 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 CGCTGCAGGGCCTCGTCCAGG 0.682 RMI1 80010 broad.mit.edu 37 9 86616796 86616796 + Missense_Mutation SNP C C A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr9:86616796C>A uc022bjb.1 + 0 895 c.895C>A c.(895-897)Cca>Aca p.P299T RMI1_uc004anq.4_Missense_Mutation_p.P299T|RMI1_uc004anr.4_Missense_Mutation_p.P299T|RMI1_uc004anp.4_Missense_Mutation_p.P299T|RMI1_uc004ans.4_Missense_Mutation_p.P299T NM_024945 NP_079221 Q9H9A7 RMI1_HUMAN Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA. 299 DNA replication nucleus biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 AAAAGAGGAACCATCAAACCT 0.398 LHX3 8022 broad.mit.edu 37 9 139092527 139092527 + Missense_Mutation SNP C C A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chr9:139092527C>A uc004cgz.3 - 1 286 c.167G>T c.(166-168)tGg>tTg p.W56L LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Missense_Mutation_p.W51L NM_014564 NP_055379 Q9UBR4 LHX3_HUMAN Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA. 51 LIM zinc-binding 1. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) CTTGCTGTGCCAGTGGCGGTC 0.607 ARSE 415 broad.mit.edu 37 X 2867744 2867744 + Missense_Mutation SNP C C G TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:2867744C>G uc011mhh.2 - 6 991 c.530G>C c.(529-531)tGt>tCt p.C177S ARSE_uc011mhi.2_Missense_Mutation_p.C98S|ARSE_uc004crc.4_Missense_Mutation_p.C152S P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 152 skeletal system development Golgi stack arylsulfatase activity|metal ion binding p.S176F(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 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) GGCTGACTCACAGTTGAGACC 0.483 MXRA5 25878 broad.mit.edu 37 X 3235366 3235366 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:3235366C>T uc004crg.4 - 5 6513 c.6356G>A c.(6355-6357)cGc>cAc p.R2119H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2119 Ig-like C2-type 5. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCACTCATAGCGCCCGCTGTC 0.662 MAGEB1 4112 broad.mit.edu 37 X 30269233 30269233 + Missense_Mutation SNP T T C TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:30269233T>C uc022buh.1 + 0 623 c.623T>C c.(622-624)aTc>aCc p.I208T MAGEB1_uc004dcc.3_Missense_Mutation_p.I208T|MAGEB1_uc004dcd.3_Missense_Mutation_p.I208T|MAGEB1_uc004dce.3_Missense_Mutation_p.I208T NM_177415 NP_803134 P43366 MAGB1_HUMAN Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA. 208 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CTGGGTGTGATCTTCTTAAAG 0.488 FAM47A 158724 broad.mit.edu 37 X 34148878 34148878 + Silent SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:34148878C>T uc004ddg.3 - 0 1570 c.1518G>A c.(1516-1518)tcG>tcA p.S506S NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 506 Missing. p.R505H(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGGGAGGCTCCGAGCGGAGAC 0.652 PHF16 9767 broad.mit.edu 37 X 46884151 46884151 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:46884151G>A uc004dgx.3 + 4 361 c.310G>A c.(310-312)Gtt>Att p.V104I PHF16_uc004dgy.3_Missense_Mutation_p.V104I NM_001077445 NP_055550 Q92613 JADE3_HUMAN Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA. 104 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 GGTAAAGGACGTTCTGTTTAT 0.448 RBM10 8241 broad.mit.edu 37 X 47041361 47041361 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:47041361G>A uc004dhi.3 + 15 2129 c.1900G>A c.(1900-1902)Gtc>Atc p.V634I RBM10_uc004dhf.3_Missense_Mutation_p.V569I|RBM10_uc004dhh.3_Missense_Mutation_p.V568I|RBM10_uc010nhq.3_Missense_Mutation_p.V492I|RBM10_uc004dhg.3_Missense_Mutation_p.V491I NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 569 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 TGTTCCCGACGTCTCTACCTA 0.577 ARL13A 392509 broad.mit.edu 37 X 100240808 100240808 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:100240808G>A uc004ego.3 + 3 399 c.283G>A c.(283-285)Gtc>Atc p.V95I ARL13A_uc011mrf.2_Missense_Mutation_p.V95I|ARL13A_uc010nng.3_Missense_Mutation_p.V95I NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA. 95 GTP binding endometrium(1)|ovary(1) 2 GCTTGTTTTCGTCCTGGATTC 0.468 HNRNPH2 3188 broad.mit.edu 37 X 100667805 100667805 + Missense_Mutation SNP G G A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:100667805G>A uc022cai.1 + 0 829 c.829G>A c.(829-831)Gga>Aga p.G277R RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.G277R|HNRNPH2_uc004ehn.3_Missense_Mutation_p.G277R NM_019597 NP_062543 P55795 HNRH2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA. 277 2 X 16 AA Gly-rich approximate repeats. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 TCATAGATACGGAGATGGTGG 0.428 SLC6A14 11254 broad.mit.edu 37 X 115586616 115586616 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:115586616C>T uc004eqi.3 + 11 1729 c.1598C>T c.(1597-1599)aCg>aTg p.T533M NM_007231 NP_009162 Q9UN76 S6A14_HUMAN Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA. 533 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.T533M(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TTTGTAATTACGCCTATCCTT 0.348 RHOXF1 158800 broad.mit.edu 37 X 119249400 119249400 + Missense_Mutation SNP T T A TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:119249400T>A uc004esk.1 - 0 448 c.373A>T c.(373-375)Act>Tct p.T125S AK123976_uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA. 125 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 GGGTATTGAGTGTGTCGGAAA 0.577 IRAK1 3654 broad.mit.edu 37 X 153283486 153283486 + Missense_Mutation SNP C C T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cda6181-c62b-4ced-a543-d6138fd2e94a 8fc02285-7cee-43ed-8656-279e597967ba g.chrX:153283486C>T uc004fjs.1 - 6 959 c.880G>A c.(880-882)Ggc>Agc p.G294S IRAK1_uc004fjr.1_Missense_Mutation_p.G294S|IRAK1_uc004fjt.1_Missense_Mutation_p.G294S|IRAK1_uc004fju.2_Missense_Mutation_p.G320S NM_001569 NP_001560 P51617 IRAK1_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA. 294 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCAGGGAGCCGTTGGGCAGG 0.612