Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample MECR 51102 broad.mit.edu 37 1 29527049 29527049 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:29527049G>A ENST00000373791.3 - 7 953 c.581C>T c.(580-582)aCa>aTa p.T194I MECR_ENST00000263702.6_Missense_Mutation_p.T270I NM_001024732.1|NM_016011.2 NP_001019903|NP_057095.3 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 270 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) CAGCAGCTCTGTGGAGCTTTT 0.562 4 26 --- --- --- --- PHC2 1912 broad.mit.edu 37 1 33797885 33797885 + Missense_Mutation SNP A A C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr1:33797885A>C ENST00000257118.5 - 10 1932 c.1879T>G c.(1879-1881)Tat>Gat p.Y627D PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000485928.1_5'UTR NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 627 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTTGCAGATAGGGCTCCTCC 0.567 4 95 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80530262 80530262 + Missense_Mutation SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:80530262T>C ENST00000295057.3 - 2 1339 c.683A>G c.(682-684)cAc>cGc p.H228R CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 228 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCGCGGGAAGTGGGCGAAGTT 0.577 HNSCC(69;0.2) 39 76 --- --- --- --- SPHKAP 80309 broad.mit.edu 37 2 228883536 228883536 + Silent SNP A A G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:228883536A>G ENST00000392056.3 - 7 2080 c.2034T>C c.(2032-2034)caT>caC p.H678H SPHKAP_ENST00000344657.5_Silent_p.H678H NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 678 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATCAATGGAATGCCTCAGGA 0.418 103 173 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89468541 89468541 + Splice_Site SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr3:89468541G>T ENST00000336596.2 + 11 2299 c.e11+1 EPHA3_ENST00000494014.1_Splice_Site NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GTTACCAAAAGTAAGTAAAGT 0.398 TSP Lung(6;0.00050) 22 48 --- --- --- --- PPP2R3A 5523 broad.mit.edu 37 3 135722332 135722332 + Silent SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr3:135722332C>T ENST00000264977.3 + 2 2609 c.1992C>T c.(1990-1992)atC>atT p.I664I PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 664 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CAGAGGTGATCAAGGTAAGAC 0.353 18 66 --- --- --- --- FGFBP2 83888 broad.mit.edu 37 4 15964674 15964674 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr4:15964674C>T ENST00000259989.6 - 1 185 c.79G>A c.(79-81)Gga>Aga p.G27R FGFBP2_ENST00000509331.1_Intron NM_031950.3 NP_114156.1 Q9BYJ0 FGFP2_HUMAN fibroblast growth factor binding protein 2 27 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CCAGTGCTTCCTTGCTTTTGC 0.577 12 36 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57181022 57181022 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr4:57181022G>A ENST00000504228.1 + 6 1459 c.1354G>A c.(1354-1356)Gag>Aag p.E452K KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K Q6ZU35 K1211_HUMAN KIAA1211 452 Glu-rich. 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) AGGTATTTGCGAGGAGCAGAA 0.592 3 14 --- --- --- --- PCDHB8 56128 broad.mit.edu 37 5 140559000 140559000 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr5:140559000G>A ENST00000239444.2 + 1 1630 c.1385G>A c.(1384-1386)cGc>cAc p.R462H NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 462 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R462P(1) 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) CTGTTCGTCCGCGAGAACAAC 0.627 21 325 --- --- --- --- GRIA1 2890 broad.mit.edu 37 5 153174234 153174234 + Missense_Mutation SNP A A T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr5:153174234A>T ENST00000285900.5 + 14 2667 c.2324A>T c.(2323-2325)aAa>aTa p.K775I GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000448073.4_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 775 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) CTTTTGGACAAATTGAAAAAC 0.443 5 51 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281226 100281226 + Missense_Mutation SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr7:100281226T>C ENST00000275732.5 - 17 3208 c.1999A>G c.(1999-2001)Att>Gtt p.I667V NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 667 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GAAGAGTTAATTGGTATGTCC 0.597 10 140 --- --- --- --- GRIN3A 116443 broad.mit.edu 37 9 104448995 104448995 + Missense_Mutation SNP A A C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr9:104448995A>C ENST00000361820.3 - 2 1787 c.1187T>G c.(1186-1188)gTc>gGc p.V396G NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 396 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|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) AGCTCTTGCGACCAGCTCCAT 0.498 4 80 --- --- --- --- NUP188 23511 broad.mit.edu 37 9 131765100 131765100 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr9:131765100C>T ENST00000372577.2 + 37 4163 c.4142C>T c.(4141-4143)cCt>cTt p.P1381L NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1381 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCTTAGACACCTAGTGCCTCT 0.562 12 45 --- --- --- --- ITGA8 8516 broad.mit.edu 37 10 15590512 15590512 + Missense_Mutation SNP C C G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:15590512C>G ENST00000378076.3 - 27 3175 c.2822G>C c.(2821-2823)gGa>gCa p.G941A NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 941 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity 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 GCTTTCTCCTCCTTCGAGTCG 0.473 7 45 --- --- --- --- ST8SIA6 338596 broad.mit.edu 37 10 17362963 17362963 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:17362963G>T ENST00000377602.4 - 8 1185 c.1111C>A c.(1111-1113)Cag>Aag p.Q371K NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 371 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTGGGCATCTGATGGAAACCA 0.403 10 255 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76729799 76729799 + Missense_Mutation SNP T T C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr10:76729799T>C ENST00000287239.4 + 6 1357 c.868T>C c.(868-870)Tcc>Ccc p.S290P KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 290 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TTTTTGTGATTCCTGTGATAG 0.318 6 43 --- --- --- --- MUC5B 727897 broad.mit.edu 37 11 1271277 1271277 + Silent SNP C C G TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:1271277C>G ENST00000447027.1 + 31 13234 c.13176C>G c.(13174-13176)acC>acG p.T4392T MUC5B_ENST00000529681.1_Silent_p.T4389T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4389 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) CGGGGACGACCTGGATCCTCA 0.662 4 102 --- --- --- --- OR5D18 219438 broad.mit.edu 37 11 55587532 55587532 + Missense_Mutation SNP G G A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr11:55587532G>A ENST00000333976.4 + 1 447 c.427G>A c.(427-429)Gtg>Atg p.V143M NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GAAACTCTGCGTGCTGCTGGT 0.468 32 124 --- --- --- --- ADAMTS20 80070 broad.mit.edu 37 12 43819391 43819391 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr12:43819391G>T ENST00000389420.3 - 28 4209 c.4210C>A c.(4210-4212)Cca>Aca p.P1404T ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1404 TSP type-1 10. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACGCTAGGTGGCTTGTTTACA 0.403 6 21 --- --- --- --- SHISA2 387914 broad.mit.edu 37 13 26620948 26620948 + Silent SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr13:26620948C>T ENST00000319420.3 - 2 646 c.591G>A c.(589-591)gcG>gcA p.A197A NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 197 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 TTGTTGGGGGCGCCCGGGCCC 0.612 7 105 --- --- --- --- NUFIP1 26747 broad.mit.edu 37 13 45533530 45533530 + Missense_Mutation SNP A A C TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr13:45533530A>C ENST00000379161.4 - 7 1053 c.1007T>G c.(1006-1008)aTa>aGa p.I336R NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 336 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) ATCACTGTTTATCAAAACACC 0.403 35 66 --- --- --- --- SOCS4 122809 broad.mit.edu 37 14 55509920 55509920 + Missense_Mutation SNP G G T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr14:55509920G>T ENST00000395472.2 + 2 493 c.161G>T c.(160-162)gGt>gTt p.G54V SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 54 intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 ACAGTGAATGGTATAGAGAAA 0.413 23 68 --- --- --- --- TIMM13 26517 broad.mit.edu 37 19 2427323 2427323 + Splice_Site SNP C C A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:2427323C>A ENST00000215570.3 - 2 481 c.e2-1 TIMM13_ENST00000591871.1_Splice_Site NM_012458.2 NP_036590.1 Q9Y5L4 TIM13_HUMAN translocase of inner mitochondrial membrane 13 homolog (yeast) protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex protein binding|zinc ion binding endometrium(1)|prostate(1) 2 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) CCGTCATCCTCTGTGGAGACA 0.687 12 149 --- --- --- --- COL5A3 50509 broad.mit.edu 37 19 10096993 10096993 + Nonsense_Mutation SNP T T A TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:10096993T>A ENST00000264828.3 - 30 2435 c.2350A>T c.(2350-2352)Aag>Tag p.K784* NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 784 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) TCATTTACCTTCTCCCCAGCT 0.632 9 24 --- --- --- --- ICAM4 3386 broad.mit.edu 37 19 10398384 10398384 + Nonsense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr19:10398384C>T ENST00000340992.4 + 2 529 c.490C>T c.(490-492)Caa>Taa p.Q164* CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.A189A|ICAM4_ENST00000393717.2_Silent_p.A189A NM_001039132.2 NP_001034221.1 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TGGATCTGGCCAACGTGACCT 0.637 4 52 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99662943 99662943 + Missense_Mutation SNP C C T TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chrX:99662943C>T ENST00000373034.4 - 1 2328 c.653G>A c.(652-654)cGc>cAc p.R218H PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 218 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GGTGCCCAGGCGCGGCGGGTC 0.607 24 39 --- --- --- --- SLC8A1 6546 broad.mit.edu 37 2 40342400 40342400 + Frame_Shift_Del DEL C C - TCGA-EJ-7318-01B-11D-A32B-08 TCGA-EJ-7318-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b812ff8-df95-4cb8-994f-3781ffaa7283 aedb9142-7769-4ca6-b652-f7b81ce8166e g.chr2:40342400delC ENST00000406785.2 - 8 2996 c.2807delG c.(2806-2808)ggcfs p.G936fs SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCTTTAGAAGCCTTTTATGTG 0.398 25 41 --- --- --- ---