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 MEGF6 1953 broad.mit.edu 37 1 3519044 3519044 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:3519044C>A ENST00000356575.4 - 2 478 c.252G>T c.(250-252)gtG>gtT p.V84V NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 84 EMI. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCTCATGACCCACGCACCACG 0.697 5 42 --- --- --- --- PRAMEF12 390999 broad.mit.edu 37 1 12835281 12835281 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:12835281C>A ENST00000357726.4 + 1 298 c.271C>A c.(271-273)Cag>Aag p.Q91K NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 91 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTGCTTGCCCAGAAGGTTCG 0.597 5 105 --- --- --- --- ACOT11 26027 broad.mit.edu 37 1 55069594 55069594 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:55069594G>T ENST00000371316.3 + 11 1218 c.1136G>T c.(1135-1137)tGg>tTg p.W379L ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 379 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 TCCGTCCCCTGGGACCCTAGC 0.582 6 90 --- --- --- --- C1orf177 163747 broad.mit.edu 37 1 55280671 55280671 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:55280671G>T ENST00000358193.3 + 8 1063 c.1009G>T c.(1009-1011)Ggg>Tgg p.G337W C1orf177_ENST00000371273.3_Missense_Mutation_p.G337W NM_152607.2 NP_689820 Q3ZCV2 CA177_HUMAN chromosome 1 open reading frame 177 337 breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2) 17 GACCTCCAAGGGGTCAGGTGC 0.552 7 186 --- --- --- --- SYDE2 84144 broad.mit.edu 37 1 85666010 85666010 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:85666010G>T ENST00000341460.5 - 1 719 c.670C>A c.(670-672)Cca>Aca p.P224T NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 224 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) CCCACATTTGGGGAGGCTGCC 0.557 6 133 --- --- --- --- CLCA2 9635 broad.mit.edu 37 1 86900283 86900283 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:86900283G>T ENST00000370565.4 + 6 989 c.827G>T c.(826-828)tGg>tTg p.W276L NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 276 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AGAAGTGCATGGGATGTAATC 0.478 5 138 --- --- --- --- HFM1 164045 broad.mit.edu 37 1 91851252 91851252 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:91851252T>C ENST00000370425.3 - 5 732 c.634A>G c.(634-636)Aaa>Gaa p.K212E HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 212 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TACTGAAATTTTTGCTTACTA 0.343 7 43 --- --- --- --- GLMN 11146 broad.mit.edu 37 1 92729219 92729219 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:92729219G>T ENST00000370360.3 - 15 1451 c.1370C>A c.(1369-1371)cCa>cAa p.P457Q GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 457 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TGCACCCTCTGGGAGAAAAAG 0.373 Multiple Glomus Tumors (of the Skin), Familial 5 148 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152328017 152328017 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:152328017C>A ENST00000388718.5 - 3 2317 c.2245G>T c.(2245-2247)Ggg>Tgg p.G749W FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 749 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCAGACCCATGTTGTCCA 0.507 8 413 --- --- --- --- INTS3 65123 broad.mit.edu 37 1 153744959 153744959 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:153744959C>A ENST00000456435.1 + 27 3432 c.2246C>A c.(2245-2247)cCt>cAt p.P749H INTS3_ENST00000476843.1_Intron|INTS3_ENST00000318967.2_Intron|INTS3_ENST00000435409.2_Intron|INTS3_ENST00000512605.1_Missense_Mutation_p.P749H Q68E01 INT3_HUMAN integrator complex subunit 3 0 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CGGTGCTGCCCTGGCCCAGAC 0.597 4 29 --- --- --- --- COPA 1314 broad.mit.edu 37 1 160275314 160275314 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:160275314C>A ENST00000241704.7 - 17 1805 c.1576G>T c.(1576-1578)Gag>Tag p.E526* COPA_ENST00000368069.3_Nonsense_Mutation_p.E535* NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 526 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGAATGTTCTCATGAATGTTA 0.448 6 93 --- --- --- --- F13B 2165 broad.mit.edu 37 1 197009754 197009754 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:197009754C>A ENST00000367412.1 - 11 1893 c.1850G>T c.(1849-1851)aGa>aTa p.R617I F13B_ENST00000490002.1_5'UTR NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 617 Sushi 10. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AGTATCTCCTCTACAAATAAA 0.308 5 55 --- --- --- --- CD46 4179 broad.mit.edu 37 1 207940420 207940420 + Missense_Mutation SNP T T A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:207940420T>A ENST00000358170.2 + 6 892 c.736T>A c.(736-738)Ttt>Att p.F246I CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 246 Sushi 4. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TGGAAAAAAATTTTACTACAA 0.378 10 45 --- --- --- --- OBSCN 84033 broad.mit.edu 37 1 228492955 228492955 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:228492955G>T ENST00000570156.2 + 54 14472 c.14398G>T c.(14398-14400)Ggg>Tgg p.G4800W OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1477W NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3843 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTCAGAGATGGGGACAGATA 0.562 5 132 --- --- --- --- TTC31 64427 broad.mit.edu 37 2 74719548 74719548 + Silent SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:74719548G>T ENST00000233623.5 + 11 1144 c.1137G>T c.(1135-1137)ctG>ctT p.L379L TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron NM_022492.4 NP_071937.4 Q49AM3 TTC31_HUMAN tetratricopeptide repeat domain 31 379 binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 TCTTCCGCCTGGGCAAGGCCT 0.617 5 92 --- --- --- --- FABP1 2168 broad.mit.edu 37 2 88425739 88425739 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:88425739C>A ENST00000393750.3 - 2 227 c.196G>T c.(196-198)Ggg>Tgg p.G66W FABP1_ENST00000295834.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR P07148 FABPL_HUMAN fatty acid binding protein 1, liver 66 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 CATTCCTCCCCCACCGTGAAT 0.532 8 244 --- --- --- --- LONRF2 164832 broad.mit.edu 37 2 100916210 100916210 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:100916210G>C ENST00000393437.3 - 5 1875 c.1236C>G c.(1234-1236)gaC>gaG p.D412E LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 412 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GGGCGTTCAGGTCAGGTGCAT 0.448 9 94 --- --- --- --- WDR33 55339 broad.mit.edu 37 2 128474753 128474753 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:128474753C>T ENST00000322313.4 - 17 3003 c.2845G>A c.(2845-2847)Gga>Aga p.G949R NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 949 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGTCCTTGTCCGGGGTTCAGA 0.478 3 19 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196737068 196737068 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:196737068A>C ENST00000312428.6 - 40 6639 c.6539T>G c.(6538-6540)cTc>cGc p.L2180R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2180 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAAATCACGGAGGTTGAACAA 0.398 3 96 --- --- --- --- SPHKAP 80309 broad.mit.edu 37 2 228882928 228882928 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:228882928G>T ENST00000392056.3 - 7 2688 c.2642C>A c.(2641-2643)cCa>cAa p.P881Q SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 881 cytoplasm protein binding p.P881Q(2) 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) TTGGGTGTTTGGGTGGATACT 0.522 8 200 --- --- --- --- ANO7 50636 broad.mit.edu 37 2 242147077 242147077 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr2:242147077C>A ENST00000274979.8 + 11 1334 c.1231C>A c.(1231-1233)Ctg>Atg p.L411M ANO7_ENST00000402430.3_Missense_Mutation_p.L410M NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 411 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CGCCTGTGCCCTGGCCCAGGT 0.617 5 110 --- --- --- --- SLC6A11 6538 broad.mit.edu 37 3 10976882 10976882 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:10976882C>A ENST00000254488.2 + 13 1809 c.1743C>A c.(1741-1743)ccC>ccA p.P581P NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 581 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.P581P(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGACACTGCCCGAGGTGAGAC 0.652 5 121 --- --- --- --- OXSR1 9943 broad.mit.edu 37 3 38292947 38292947 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:38292947A>G ENST00000311806.3 + 16 1801 c.1429A>G c.(1429-1431)Agg>Ggg p.R477G NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 477 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GGTCGACGGAAGGGATTTAGT 0.458 6 230 --- --- --- --- CYB561D2 11068 broad.mit.edu 37 3 50391102 50391102 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:50391102C>A ENST00000418577.1 + 3 1172 c.596C>A c.(595-597)cCt>cAt p.P199H CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H O14569 C56D2_HUMAN cytochrome b561 family, member D2 199 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GTATTATGCCCTGTCCTCACC 0.567 5 129 --- --- --- --- SIDT1 54847 broad.mit.edu 37 3 113338551 113338551 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:113338551G>T ENST00000264852.4 + 21 2794 c.2068G>T c.(2068-2070)Ggg>Tgg p.G690W SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W|SIDT1_ENST00000463226.1_3'UTR NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 690 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 GCTGGTTGTGGGGAATCTGGT 0.383 8 323 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123333147 123333147 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:123333147C>A ENST00000360772.3 - 34 5775 c.5397G>T c.(5395-5397)agG>agT p.R1799S MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK_ENST00000475616.1_Missense_Mutation_p.R1850S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S Q15746 MYLK_HUMAN myosin light chain kinase 1850 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GGCGGGACTCCCTGATTGACT 0.483 6 81 --- --- --- --- SLC12A8 84561 broad.mit.edu 37 3 124896676 124896676 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:124896676C>A ENST00000423114.2 - 5 619 c.620G>T c.(619-621)tGg>tTg p.W207L SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W178L A0AV02 S12A8_HUMAN solute carrier family 12, member 8 178 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 GCGGATTATCCATTTGACACC 0.557 4 48 --- --- --- --- TF 7018 broad.mit.edu 37 3 133489392 133489392 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:133489392C>A ENST00000402696.3 + 14 2148 c.1663C>A c.(1663-1665)Cag>Aag p.Q555K TF_ENST00000264998.3_Missense_Mutation_p.Q428K NM_001063.3 NP_001054 P02787 TRFE_HUMAN transferrin 555 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGTGAAACACCAGACTGTCCC 0.507 6 192 --- --- --- --- CP 1356 broad.mit.edu 37 3 148896263 148896263 + Silent SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:148896263A>G ENST00000264613.6 - 16 3079 c.2817T>C c.(2815-2817)tcT>tcC p.S939S NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 939 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CGGGGTGATCAGAGTATGTTT 0.323 6 94 --- --- --- --- ST6GAL1 6480 broad.mit.edu 37 3 186790707 186790707 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:186790707C>A ENST00000169298.3 + 6 1450 c.776C>A c.(775-777)cCa>cAa p.P259Q ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 259 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GTATGGGACCCATCTGTATAC 0.443 5 116 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195594757 195594757 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:195594757C>A ENST00000333602.6 - 12 2984 c.2367G>T c.(2365-2367)tcG>tcT p.S789S TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 789 EBD domain (By similarity).|Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) TGGGTGTCCTCGAGCCTTGAG 0.706 4 46 --- --- --- --- TADA2B 93624 broad.mit.edu 37 4 7056217 7056217 + Silent SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:7056217G>T ENST00000310074.7 + 2 888 c.699G>T c.(697-699)ctG>ctT p.L233L TADA2B_ENST00000512388.1_Silent_p.L158L|TADA2B_ENST00000515646.1_Silent_p.L141L NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 CAGCCTTCCTGGGGAAGGACA 0.577 5 99 --- --- --- --- SORCS2 57537 broad.mit.edu 37 4 7684513 7684513 + Missense_Mutation SNP A A T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:7684513A>T ENST00000507866.2 + 10 1494 c.1385A>T c.(1384-1386)gAt>gTt p.D462V SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 462 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 CAAAAAATTGATGGGAAAGTG 0.468 7 25 --- --- --- --- SH3TC1 54436 broad.mit.edu 37 4 8221138 8221138 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:8221138C>A ENST00000539824.1 + 9 1139 c.765C>A c.(763-765)ctC>ctA p.L255L SH3TC1_ENST00000245105.3_Silent_p.L331L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 331 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GTGGCGACCTCATCGAGATCC 0.672 5 76 --- --- --- --- N4BP2 55728 broad.mit.edu 37 4 40119567 40119567 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:40119567A>G ENST00000261435.6 + 8 2159 c.1743A>G c.(1741-1743)atA>atG p.I581M NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 581 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 CAGTGCCAATAATTATGAGTT 0.358 17 51 --- --- --- --- ATP10D 57205 broad.mit.edu 37 4 47538468 47538468 + Missense_Mutation SNP C C A rs139274170 by1000genomes TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:47538468C>A ENST00000273859.3 + 8 1299 c.1030C>A c.(1030-1032)Ctg>Atg p.L344M ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 344 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGGAATCTGGCTGAGCAGGTA 0.363 7 198 --- --- --- --- KDR 3791 broad.mit.edu 37 4 55961098 55961098 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:55961098C>A ENST00000263923.4 - 21 3137 c.2842G>T c.(2842-2844)Ggg>Tgg p.G948W NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 948 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TAGTCTTTCCCTTGACGGAAT 0.438 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 6 86 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88957413 88957413 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:88957413C>A ENST00000237596.2 + 3 817 c.751C>A c.(751-753)Cgg>Agg p.R251R NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 251 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity p.R251R(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) CTACTACACCCGGATGATGTC 0.478 5 132 --- --- --- --- GRIA2 2891 broad.mit.edu 37 4 158254059 158254059 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:158254059G>T ENST00000296526.7 + 7 1296 c.971G>T c.(970-972)aGg>aTg p.R324M GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 324 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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 NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATCTCCCGAAGGGGGAATGCA 0.483 5 77 --- --- --- --- DDX60L 91351 broad.mit.edu 37 4 169337892 169337892 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr4:169337892A>C ENST00000511577.1 - 20 2914 c.2667T>G c.(2665-2667)atT>atG p.I889M DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M|DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 889 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GACATCGAATAATGACAAGGA 0.358 15 84 --- --- --- --- ADAMTS16 170690 broad.mit.edu 37 5 5186169 5186169 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:5186169G>A ENST00000274181.7 + 5 906 c.768G>A c.(766-768)atG>atA p.M256I ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 256 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 CCATAGACATGCCCCAGCCTC 0.468 37 190 --- --- --- --- LIFR 3977 broad.mit.edu 37 5 38523567 38523567 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:38523567C>A ENST00000263409.4 - 5 677 c.515G>T c.(514-516)tGg>tTg p.W172L LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 172 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TTTAATTTCCCAGATAACATT 0.348 T PLAG1 salivary adenoma 5 102 --- --- --- --- SNX18 112574 broad.mit.edu 37 5 53814500 53814500 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:53814500G>T ENST00000343017.6 + 1 912 c.718G>T c.(718-720)Ggg>Tgg p.G240W SNX18_ENST00000326277.3_Missense_Mutation_p.G240W|SNX18_ENST00000381410.4_Missense_Mutation_p.G240W NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 240 cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) CAAGTCCGGCGGGGAGGCCTT 0.701 5 112 --- --- --- --- CMYA5 202333 broad.mit.edu 37 5 79034560 79034560 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:79034560C>A ENST00000446378.2 + 2 10003 c.9972C>A c.(9970-9972)ccC>ccA p.P3324P NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3324 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAAGCTCCCATCACAGAGG 0.493 5 85 --- --- --- --- PCDHA5 56143 broad.mit.edu 37 5 140201750 140201750 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:140201750C>A ENST00000529859.1 + 1 390 c.390C>A c.(388-390)ccC>ccA p.P130P PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAATCCGCCCAGGTTCTCCA 0.527 5 104 --- --- --- --- PCDHGA10 56106 broad.mit.edu 37 5 140795088 140795088 + Silent SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:140795088G>A ENST00000398610.2 + 1 2346 c.2346G>A c.(2344-2346)acG>acA p.T782T PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGGACACGCTCATCAGCC 0.507 18 122 --- --- --- --- FBXW11 23291 broad.mit.edu 37 5 171318481 171318481 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:171318481T>C ENST00000296933.6 - 6 1110 c.740A>G c.(739-741)aAt>aGt p.N247S FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S NM_033644.2|NM_033645.2 NP_387448.2|NP_387449.2 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 260 cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway centrosome|cytosol|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 21 Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTAATAGAATTATCTCGTAG 0.348 7 44 --- --- --- --- ADAMTS2 9509 broad.mit.edu 37 5 178634552 178634552 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:178634552C>T ENST00000251582.7 - 4 954 c.853G>A c.(853-855)Gag>Aag p.E285K ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 285 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGTACGTGCTCCTTCCCGTGG 0.637 9 128 --- --- --- --- FAM50B 26240 broad.mit.edu 37 6 3850540 3850540 + Silent SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:3850540C>G ENST00000380274.1 + 1 921 c.495C>G c.(493-495)ctC>ctG p.L165L FAM50B_ENST00000380272.3_Silent_p.L165L Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 165 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) AGAACCGGCTCCGAGAGGAGC 0.687 6 47 --- --- --- --- E2F3 1871 broad.mit.edu 37 6 20486928 20486928 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:20486928A>G ENST00000346618.3 + 5 959 c.893A>G c.(892-894)tAt>tGt p.Y298C E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 298 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ACGTTAGCTTATGTTACATAT 0.333 7 44 --- --- --- --- BTN3A2 11118 broad.mit.edu 37 6 26368874 26368874 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:26368874C>A ENST00000356386.2 + 4 355 c.167C>A c.(166-168)cCg>cAg p.P56Q BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q NM_001197246.2|NM_001197247.1|NM_007047.3 NP_001184175.1|NP_001184176.1|NP_008978.2 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 56 Ig-like V-type. integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 CACCTGTTCCCGACCATGAGT 0.562 6 202 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32037543 32037543 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:32037543C>T ENST00000375244.3 - 15 5575 c.5374G>A c.(5374-5376)Gtg>Atg p.V1792M TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M P22105 TENX_HUMAN tenascin XB 1874 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGAGGCCCACGGAGTTCTGG 0.622 8 22 --- --- --- --- ABCC10 89845 broad.mit.edu 37 6 43415021 43415021 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:43415021C>A ENST00000244533.3 + 15 3855 c.3496C>A c.(3496-3498)Ctg>Atg p.L1166M ABCC10_ENST00000372530.4_Missense_Mutation_p.L1194M NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1194 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TGCCCTGTCCCTGACGGGCCT 0.637 7 135 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151153132 151153132 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:151153132C>A ENST00000367328.1 + 16 3197 c.2885C>A c.(2884-2886)cCt>cAt p.P962H PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P962H NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 962 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CCAGAAAACCCTGACCTGGGG 0.488 8 218 --- --- --- --- FAM120B 84498 broad.mit.edu 37 6 170639605 170639605 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:170639605G>T ENST00000476287.1 + 4 2092 c.1984G>T c.(1984-1986)Gac>Tac p.D662Y FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 662 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GAGGCACCCGGACCTCGTCAG 0.483 9 83 --- --- --- --- FAM120B 84498 broad.mit.edu 37 6 170639606 170639606 + Missense_Mutation SNP A A T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr6:170639606A>T ENST00000476287.1 + 4 2093 c.1985A>T c.(1984-1986)gAc>gTc p.D662V FAM120B_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 662 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AGGCACCCGGACCTCGTCAGG 0.483 9 83 --- --- --- --- GPER1 2852 broad.mit.edu 37 7 1131448 1131448 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:1131448C>A ENST00000397092.1 + 3 968 c.84C>A c.(82-84)tcC>tcA p.S28S C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Silent_p.S28S|GPER1_ENST00000297469.3_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron NM_001039966.1 NP_001035055.1 G protein-coupled estrogen receptor 1 28 ACACCACCTCCCCCGAGCTCA 0.672 5 71 --- --- --- --- FOXK1 221937 broad.mit.edu 37 7 4796699 4796699 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:4796699G>T ENST00000328914.4 + 5 1125 c.1125G>T c.(1123-1125)aaG>aaT p.K375N FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 375 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGCCTGGGAAGGGGTCCTTTT 0.557 6 141 --- --- --- --- AIMP2 7965 broad.mit.edu 37 7 6054935 6054935 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:6054935C>A ENST00000223029.3 + 2 413 c.294C>A c.(292-294)ccC>ccA p.P98P AIMP2_ENST00000400479.2_Silent_p.P20P|AIMP2_ENST00000395236.2_Intron NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 98 Interaction with PARK2. EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity). apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CGGATGAGCCCACGACTTTAA 0.458 5 97 --- --- --- --- C7orf31 136895 broad.mit.edu 37 7 25175953 25175953 + Missense_Mutation SNP G G T rs35154287 byFrequency TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:25175953G>T ENST00000409280.1 - 10 1719 c.1411C>A c.(1411-1413)Cta>Ata p.L471I C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 471 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 TGATCACGTAGGGGAGATTTA 0.383 7 283 --- --- --- --- BMPER 168667 broad.mit.edu 37 7 34009963 34009963 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:34009963G>T ENST00000297161.2 + 6 799 c.425G>T c.(424-426)gGg>gTg p.G142V BMPER_ENST00000426693.1_Missense_Mutation_p.G142V NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 142 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACAGAGTCTGGGGTGCGCTGT 0.493 6 153 --- --- --- --- ZNF789 285989 broad.mit.edu 37 7 99079801 99079801 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:99079801A>C ENST00000379724.3 + 4 366 c.167A>C c.(166-168)gAt>gCt p.D56A ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron NM_001013258.1 NP_001013276.1 Q5FWF6 ZN789_HUMAN zinc finger protein 789 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ttccagtttgatgctgcaata 0.378 11 49 --- --- --- --- ZNF3 7551 broad.mit.edu 37 7 99669788 99669788 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:99669788T>C ENST00000303915.6 - 5 1286 c.319A>G c.(319-321)Aga>Gga p.R107G ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron P17036 ZNF3_HUMAN zinc finger protein 3 107 KRAB. cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) CCATGTGATCTTGTGTCTTCA 0.403 16 81 --- --- --- --- ORAI2 80228 broad.mit.edu 37 7 102087367 102087367 + Silent SNP C C T rs144660402 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:102087367C>T ENST00000356387.2 + 4 868 c.633C>T c.(631-633)ttC>ttT p.F211F ORAI2_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 211 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GCCTCATCTTCGTGGTCTTCA 0.667 6 36 --- --- --- --- PNPLA8 50640 broad.mit.edu 37 7 108142978 108142978 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:108142978C>A ENST00000426128.2 - 4 1440 c.1315G>T c.(1315-1317)Ggg>Tgg p.G439W PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000422087.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 439 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 ATTCCTCTCCCTTTCACTGGA 0.358 5 100 --- --- --- --- AASS 10157 broad.mit.edu 37 7 121753227 121753227 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:121753227G>T ENST00000393376.1 - 10 1318 c.1223C>A c.(1222-1224)cCa>cAa p.P408Q AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 408 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCTTCAATTGGGAGCTGTGC 0.403 4 49 --- --- --- --- ZNF398 57541 broad.mit.edu 37 7 148876421 148876421 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:148876421C>T ENST00000420008.2 + 6 1732 c.944C>T c.(943-945)cCt>cTt p.P315L ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 486 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TTCTCCTGCCCTCAGTGTGGC 0.612 12 61 --- --- --- --- AGAP3 116988 broad.mit.edu 37 7 150839292 150839292 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:150839292G>A ENST00000397238.2 + 15 2002 c.2002G>A c.(2002-2004)Gtc>Atc p.V668I AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 632 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 TGTGCAGGCCGTCCGCACCGT 0.622 42 202 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151879331 151879331 + Nonsense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr7:151879331G>A ENST00000355193.2 - 36 5832 c.5614C>T c.(5614-5616)Cag>Tag p.Q1872* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872* lysine (K)-specific methyltransferase 2C TGAGAAGTCTGAGCCTGAGAA 0.512 27 122 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18729462 18729462 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:18729462C>A ENST00000440756.2 - 3 1014 c.912G>T c.(910-912)gtG>gtT p.V304V PSD3_ENST00000327040.8_Silent_p.V304V|PSD3_ENST00000523619.1_Silent_p.V239V Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 304 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACAGTATTTCCACTCCTTGAA 0.522 5 127 --- --- --- --- MTDH 92140 broad.mit.edu 37 8 98701313 98701313 + Nonsense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:98701313G>T ENST00000336273.3 + 5 1121 c.793G>T c.(793-795)Gga>Tga p.G265* MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242* NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 265 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) ATCTGGAAAAGGAGATTCTAC 0.299 6 125 --- --- --- --- POP1 10940 broad.mit.edu 37 8 99146744 99146744 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:99146744G>T ENST00000401707.2 + 7 949 c.868G>T c.(868-870)Ggg>Tgg p.G290W POP1_ENST00000349693.3_Missense_Mutation_p.G290W NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 290 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AAAGCGCCAAGGGAGCCTTGT 0.493 6 124 --- --- --- --- FZD6 8323 broad.mit.edu 37 8 104340581 104340581 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:104340581G>T ENST00000358755.4 + 5 1795 c.1478G>T c.(1477-1479)tGg>tTg p.W493L FZD6_ENST00000540287.1_Missense_Mutation_p.W188L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000522566.1_Missense_Mutation_p.W493L NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 493 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GCTGTCTTCTGGGTTGGAAGC 0.358 5 78 --- --- --- --- RIMS2 9699 broad.mit.edu 37 8 104922549 104922549 + Splice_Site SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:104922549G>T ENST00000262231.10 + 3 1297 c.1049G>T c.(1048-1050)gGg>gTg p.G350V RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron NM_001282881.1 NP_001269810.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 573 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATACCTGTAGGGGACAGTCAA 0.343 HNSCC(12;0.0054) 6 142 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110457298 110457298 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:110457298C>A ENST00000378402.5 + 38 5304 c.5200C>A c.(5200-5202)Cag>Aag p.Q1734K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1734 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTGCCTGCCCAGTGCCAGGG 0.423 HNSCC(38;0.096) 7 313 --- --- --- --- EBAG9 9166 broad.mit.edu 37 8 110575674 110575674 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:110575674C>A ENST00000531677.1 + 6 570 c.570C>A c.(568-570)ccC>ccA p.P190P EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 174 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) TTCATCATCCCACTCCTACCT 0.438 9 451 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113402985 113402985 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:113402985C>A ENST00000297405.5 - 36 6086 c.5842G>T c.(5842-5844)Ggg>Tgg p.G1948W CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1948 CUB 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAAATAGTCCCTTTGCGCTTA 0.413 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 58 --- --- --- --- ENPP2 5168 broad.mit.edu 37 8 120606084 120606084 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:120606084C>A ENST00000427067.2 - 12 1157 c.977G>T c.(976-978)aGg>aTg p.R326M ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330M|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 330 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTCGATTTCCCTCAGAGGATT 0.423 7 287 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124357245 124357245 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:124357245C>A ENST00000287394.5 - 19 2704 c.2597G>T c.(2596-2598)tGg>tTg p.W866L ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) AACTATTTCCCACCACACGTG 0.393 7 258 --- --- --- --- KLHL38 340359 broad.mit.edu 37 8 124663855 124663855 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:124663855C>A ENST00000325995.7 - 1 1335 c.1312G>T c.(1312-1314)Gga>Tga p.G438* CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 438 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 ATGTCCTCTCCTCCAAAGAGA 0.542 6 146 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 125078687 125078687 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:125078687C>A ENST00000522917.1 + 27 3780 c.3574C>A c.(3574-3576)Cgg>Agg p.R1192R FER1L6_ENST00000399018.1_Silent_p.R1192R|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1192 integral to membrane p.R1192R(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAAGCCTTCCCGGAGGTCCAC 0.488 8 457 --- --- --- --- ZNF7 7553 broad.mit.edu 37 8 146066830 146066830 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr8:146066830C>A ENST00000528372.1 + 5 578 c.338C>A c.(337-339)cCa>cAa p.P113Q ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q P17097 ZNF7_HUMAN zinc finger protein 7 113 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) AGAATCTCCCCACAGGACTTT 0.473 7 260 --- --- --- --- PRUNE2 158471 broad.mit.edu 37 9 79320978 79320978 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:79320978C>A ENST00000428286.1 - 8 6335 c.5135G>T c.(5134-5136)tGg>tTg p.W1712L PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2071L Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2071 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGCATCTATCCACAAGTCAGG 0.517 6 186 --- --- --- --- GKAP1 80318 broad.mit.edu 37 9 86368205 86368205 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:86368205G>T ENST00000376371.2 - 9 1208 c.808C>A c.(808-810)Cag>Aag p.Q270K GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 270 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TTCAGCTTCTGGATTTCAGCA 0.323 6 103 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172257 94172257 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:94172257C>A ENST00000297689.3 - 2 1154 c.760G>T c.(760-762)Ggg>Tgg p.G254W NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 254 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TGTGAGTACCCAGAGAAAGAA 0.498 6 143 --- --- --- --- PALM2-AKAP2 445815 broad.mit.edu 37 9 112898650 112898650 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:112898650C>A ENST00000374530.3 + 8 1006 c.826C>A c.(826-828)Ctg>Atg p.L276M AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000259318.7_Missense_Mutation_p.L45M|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 45 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CCACGAATCCCTGGATAATGA 0.507 5 124 --- --- --- --- KIAA0368 23392 broad.mit.edu 37 9 114204657 114204657 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:114204657C>A ENST00000259335.4 - 6 851 c.852G>T c.(850-852)gtG>gtT p.V284V KIAA0368_ENST00000338205.5_Silent_p.V106V NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ATTGTTTTTCCACTGGTAGGC 0.398 4 32 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117838732 117838732 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr9:117838732C>A ENST00000350763.4 - 8 3208 c.2797G>T c.(2797-2799)Ggg>Tgg p.G933W TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 933 Fibronectin type-III 4. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GCGTGGTCCCCTCCAGAGATG 0.522 7 228 --- --- --- --- APBB1IP 54518 broad.mit.edu 37 10 26825131 26825131 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:26825131C>A ENST00000376236.4 + 10 1484 c.1029C>A c.(1027-1029)ccC>ccA p.P343P NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 343 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 ATTATGTACCCAAAGGAAAGA 0.333 7 183 --- --- --- --- LRRC37A6P 387646 broad.mit.edu 37 10 27536421 27536421 + RNA SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:27536421G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TTATGCTCTTGGATGAATGAA 0.567 4 38 --- --- --- --- FUT11 170384 broad.mit.edu 37 10 75533466 75533466 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:75533466C>A ENST00000372841.3 + 2 1270 c.1227C>A c.(1225-1227)ccC>ccA p.P409P FUT11_ENST00000394790.1_Silent_p.P409P|FUT11_ENST00000465695.1_3'UTR NM_173540.2 NP_775811.2 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 409 protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 Prostate(51;0.0112) CGGCCTCTCCCGGGGACAGCC 0.587 5 137 --- --- --- --- CHCHD1 118487 broad.mit.edu 37 10 75542178 75542178 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:75542178C>A ENST00000372837.3 + 2 251 c.222C>A c.(220-222)ctC>ctA p.L74L CHCHD1_ENST00000372833.5_Silent_p.L74L Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 74 CHCH. nucleus breast(1) 1 Prostate(51;0.0112) AGGGCTTCCTCGATTGTGCCG 0.537 4 98 --- --- --- --- IFIT3 3437 broad.mit.edu 37 10 91099384 91099384 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:91099384G>T ENST00000371818.4 + 2 1152 c.972G>T c.(970-972)aaG>aaT p.K324N LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 324 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 CTCTTGAGAAGGGACTGAATC 0.413 5 57 --- --- --- --- NEURL1 9148 broad.mit.edu 37 10 105350078 105350078 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:105350078C>A ENST00000369780.4 + 6 2083 c.1674C>A c.(1672-1674)ccC>ccA p.P558P SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.P541P NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 558 nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CCTGCTGCCCCATCTGCCGCC 0.627 5 49 --- --- --- --- C10orf118 55088 broad.mit.edu 37 10 115890993 115890993 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:115890993G>T ENST00000369287.3 - 12 2280 c.2014C>A c.(2014-2016)Cag>Aag p.Q672K C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 672 p.Q672K(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TCTTCTACCTGGGTACTCAAT 0.388 7 297 --- --- --- --- EIF3A 8661 broad.mit.edu 37 10 120802285 120802285 + Splice_Site SNP C C A rs113384668 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:120802285C>A ENST00000369144.3 - 19 2875 c.e19-1 EIF3A_ENST00000541549.1_Splice_Site NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TCTCCACTCCCTACACAGCAA 0.423 6 146 --- --- --- --- UBXN1 51035 broad.mit.edu 37 11 62444225 62444225 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:62444225C>A ENST00000294119.2 - 8 1035 c.904G>T c.(904-906)Gga>Tga p.G302* UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 120 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 CCTCCTTTTCCTAGGCATGCC 0.512 7 128 --- --- --- --- ATL3 25923 broad.mit.edu 37 11 63398754 63398754 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:63398754C>T ENST00000398868.3 - 12 1573 c.1297G>A c.(1297-1299)Ggt>Agt p.G433S ATL3_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S NM_015459.3 NP_056274.3 Q6DD88 ATLA3_HUMAN atlastin GTPase 3 433 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 TTCTTGCTACCATTGTGCTTG 0.493 5 95 --- --- --- --- EIF1AD 84285 broad.mit.edu 37 11 65767617 65767617 + Translation_Start_Site SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:65767617C>A ENST00000525767.1 - 0 137 EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000312234.2_Missense_Mutation_p.G35W|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W Q8N9N8 EIF1A_HUMAN eukaryotic translation initiation factor 1A domain containing nucleus translation initiation factor activity lung(5) 5 AGATTGTTCCCTGGGGTCCTG 0.562 6 78 --- --- --- --- C11orf80 79703 broad.mit.edu 37 11 66571471 66571471 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:66571471C>A ENST00000360962.4 + 9 855 c.848C>A c.(847-849)cCa>cAa p.P283Q C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 128 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GACAGTAGACCAAATTTTGGT 0.358 8 214 --- --- --- --- SIK2 23235 broad.mit.edu 37 11 111594484 111594484 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:111594484C>A ENST00000304987.3 + 15 2585 c.2412C>A c.(2410-2412)tcC>tcA p.S804S NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 804 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 CCCTGCCCTCCACTTCCGGTC 0.672 7 234 --- --- --- --- HMBS 3145 broad.mit.edu 37 11 118960953 118960953 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:118960953C>A ENST00000537841.1 + 8 716 c.425C>A c.(424-426)cCg>cAg p.P142Q HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000278715.3_Missense_Mutation_p.P159Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q P08397 HEM3_HUMAN hydroxymethylbilane synthase 159 peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) AGAAAGTTCCCGCATCTGGAG 0.493 5 126 --- --- --- --- HYLS1 219844 broad.mit.edu 37 11 125769839 125769839 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr11:125769839C>A ENST00000425380.2 + 3 1357 c.576C>A c.(574-576)ccC>ccA p.P192P HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P NM_001134793.1 NP_001128265.1 Q96M11 HYLS1_HUMAN hydrolethalus syndrome 1 192 centrosome|nucleus breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) CCAGCAGACCCAAGTCCTTTA 0.488 5 82 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6700934 6700934 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:6700934C>A ENST00000309577.6 - 21 3311 c.3148G>T c.(3148-3150)Ggg>Tgg p.G1050W CHD4_ENST00000357008.2_Missense_Mutation_p.G1050W|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1050 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AATAATTTCCCAGATGCTCTG 0.443 5 84 --- --- --- --- TPI1 7167 broad.mit.edu 37 12 6978334 6978334 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:6978334G>T ENST00000229270.4 + 3 759 c.422G>T c.(421-423)gGg>gTg p.G141V TPI1_ENST00000535434.1_Missense_Mutation_p.G22V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000396705.5_Missense_Mutation_p.G104V NM_001159287.1 NP_001152759.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 104 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19 CATGTCTTTGGGGAGTCAGAT 0.502 OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 251 --- --- --- --- CLSTN3 9746 broad.mit.edu 37 12 7295773 7295773 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:7295773C>A ENST00000537408.1 + 11 2287 c.1749C>A c.(1747-1749)ccC>ccA p.P583P CLSTN3_ENST00000266546.6_Silent_p.P571P Q9BQT9 CSTN3_HUMAN calsyntenin 3 571 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACGTGAACCCCTCACAGTCCC 0.622 6 130 --- --- --- --- PZP 5858 broad.mit.edu 37 12 9318703 9318703 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:9318703C>A ENST00000261336.2 - 18 2231 c.2203G>T c.(2203-2205)Gaa>Taa p.E735* PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604* NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CGCACCGTTTCAGGGACTGGC 0.438 5 132 --- --- --- --- AMIGO2 347902 broad.mit.edu 37 12 47471282 47471282 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:47471282C>A ENST00000266581.4 - 2 1970 c.1504G>T c.(1504-1506)Ggg>Tgg p.G502W AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 502 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TCAGATTTCCCCCTCGTGGAC 0.458 4 30 --- --- --- --- OR6C4 341418 broad.mit.edu 37 12 55945169 55945169 + Silent SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:55945169C>G ENST00000394256.2 + 1 187 c.159C>G c.(157-159)ctC>ctG p.L53L RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ACCCCCACCTCCAGACCCCCA 0.418 32 141 --- --- --- --- ITGA7 3679 broad.mit.edu 37 12 56088619 56088619 + Silent SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:56088619G>T ENST00000257880.7 - 16 2490 c.2271C>A c.(2269-2271)ctC>ctA p.L757L ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L|ITGA7_ENST00000555728.1_Silent_p.L757L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L Q13683 ITA7_HUMAN integrin, alpha 7 757 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GCATGACCAGGAGCTGGGCTT 0.657 4 50 --- --- --- --- HELB 92797 broad.mit.edu 37 12 66698883 66698883 + Missense_Mutation SNP A A G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:66698883A>G ENST00000247815.4 + 2 619 c.560A>G c.(559-561)gAa>gGa p.E187G NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 187 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AATGGTCAGGAAGAGTTGTTC 0.353 10 72 --- --- --- --- C12orf55 144535 broad.mit.edu 37 12 97051751 97051751 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:97051751C>A ENST00000524981.4 + 37 5215 c.5192C>A c.(5191-5193)cCt>cAt p.P1731H chromosome 12 open reading frame 55 TTTGAGCATCCTTTGGATGAT 0.358 6 159 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104071351 104071351 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:104071351C>A ENST00000388887.2 + 25 2971 c.2767C>A c.(2767-2769)Cac>Aac p.H923N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 923 EGF-like 9. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGGCGGCTGCCACGACAACGC 0.582 5 120 --- --- --- --- ANKLE2 23141 broad.mit.edu 37 12 133311997 133311997 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr12:133311997C>A ENST00000539605.1 - 8 8193 c.1509G>T c.(1507-1509)gtG>gtT p.V503V ANKLE2_ENST00000357997.5_Silent_p.V565V|ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 565 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) AGTACCTTCCCACTCTCTCAA 0.493 6 124 --- --- --- --- TNFRSF19 55504 broad.mit.edu 37 13 24234605 24234605 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr13:24234605C>A ENST00000382263.3 + 7 896 c.712C>A c.(712-714)Cgc>Agc p.R238S TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.R238S NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 238 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) CTGCCAGTGCCGCCGTGACTC 0.557 3 20 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46559748 46559748 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr13:46559748C>A ENST00000242848.4 - 10 1752 c.1404G>T c.(1402-1404)agG>agT p.R468S ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 468 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTCTTAGTTCCCTTCGGTCCC 0.502 6 148 --- --- --- --- DIS3 22894 broad.mit.edu 37 13 73347832 73347832 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr13:73347832C>T ENST00000377767.4 - 8 1329 c.1229G>A c.(1228-1230)aGa>aAa p.R410K DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 410 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ATTTGGATATCTGGAATTTCT 0.323 Multiple Myeloma(4;0.011) 10 42 --- --- --- --- TSSK4 283629 broad.mit.edu 37 14 24676531 24676531 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr14:24676531C>A ENST00000339917.5 + 3 854 c.650C>A c.(649-651)cCa>cAa p.P217Q TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Missense_Mutation_p.P207Q|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 207 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) TACGCTTGCCCAGAGATCTTA 0.537 5 136 --- --- --- --- CEP170B 283638 broad.mit.edu 37 14 105361070 105361070 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr14:105361070C>A ENST00000453495.1 + 19 4776 c.4548C>A c.(4546-4548)ccC>ccA p.P1516P CEP170B_ENST00000414716.3_Silent_p.P1480P|CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000556508.1_Silent_p.P1445P centrosomal protein 170B TCGTGGACCCCAGTGGGAGCC 0.657 5 76 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105418916 105418916 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr14:105418916C>A ENST00000333244.5 - 7 2991 c.2872G>T c.(2872-2874)Gag>Tag p.E958* AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 958 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) AGAGACACCTCGCCATCGGGG 0.632 7 342 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25436497 25436497 + RNA SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:25436497G>T ENST00000424208.1 + 0 1092 SNHG14_ENST00000414175.1_RNA NR_003305.1 ACTGAGCTGCGGTGAGCCTAT 0.607 5 143 --- --- --- --- MAPKBP1 23005 broad.mit.edu 37 15 42110410 42110410 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:42110410G>T ENST00000457542.2 + 18 2285 c.1999G>T c.(1999-2001)Ggg>Tgg p.G667W MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G673W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 673 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGACCCCTCAGGGATCTACAT 0.582 5 75 --- --- --- --- DUOXA2 405753 broad.mit.edu 37 15 45409938 45409938 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:45409938G>T ENST00000323030.5 + 6 1079 c.794G>T c.(793-795)gGg>gTg p.G265V DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000267803.4_Silent_p.P409P NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 265 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) TTCCTCGGAGGGGCCGTGGTG 0.622 6 104 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53992138 53992138 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:53992138C>A ENST00000396328.1 - 13 1813 c.1574G>T c.(1573-1575)aGg>aTg p.R525M WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M|WDR72_ENST00000557913.1_Missense_Mutation_p.R522M NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 525 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CTGCTCACCCCTTAGCTGTGA 0.413 5 103 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63928257 63928257 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:63928257C>A ENST00000443617.2 - 65 12404 c.12317G>T c.(12316-12318)tGg>tTg p.W4106L NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4106 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACCATCTCCCCAGCTAAAGAC 0.552 6 288 --- --- --- --- RBPMS2 348093 broad.mit.edu 37 15 65041350 65041350 + Splice_Site SNP C C A rs113425903 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:65041350C>A ENST00000300069.4 - 5 535 c.e5-1 RBPMS2_ENST00000560606.1_Splice_Site NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 AGCGAATACCCTACATGGGTA 0.498 5 117 --- --- --- --- ADPGK 83440 broad.mit.edu 37 15 73045050 73045050 + Missense_Mutation SNP G G A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:73045050G>A ENST00000311669.8 - 7 1216 c.1123C>T c.(1123-1125)Ctc>Ttc p.L375F ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 376 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 ATCCTGGTGAGATCCGAGGCT 0.552 11 57 --- --- --- --- LOXL1 4016 broad.mit.edu 37 15 74235269 74235269 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:74235269C>A ENST00000261921.7 + 2 1503 c.1177C>A c.(1177-1179)Ctg>Atg p.L393M NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 393 Lysyl-oxidase like. protein deamination extracellular space copper ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CCTGTACTCCCTGCGCTGTGC 0.592 6 149 --- --- --- --- MAN2A2 4122 broad.mit.edu 37 15 91461494 91461494 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr15:91461494C>A ENST00000360468.3 + 20 3083 c.3065C>A c.(3064-3066)cCg>cAg p.P1022Q MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022Q|MAN2A2_ENST00000558538.1_3'UTR NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1022 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTGAACGCCCCGGCGCTCGCT 0.592 5 111 --- --- --- --- TMEM8A 58986 broad.mit.edu 37 16 426140 426140 + Missense_Mutation SNP T T C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:426140T>C ENST00000431232.2 - 6 1380 c.1220A>G c.(1219-1221)aAc>aGc p.N407S TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 407 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 AGGTACCTTGTTGGCCCGCAG 0.682 4 24 --- --- --- --- C16orf59 80178 broad.mit.edu 37 16 2511086 2511086 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:2511086C>A ENST00000569496.1 + 4 525 c.466C>A c.(466-468)Cgg>Agg p.R156R C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 156 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) CCCTGAGCGCCGGCTGCTGTC 0.697 4 56 --- --- --- --- ADCY9 115 broad.mit.edu 37 16 4163968 4163968 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:4163968C>A ENST00000294016.3 - 2 2014 c.1476G>T c.(1474-1476)acG>acT p.T492T NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 492 Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGACGGTGCCCGTGTGCACCC 0.567 7 208 --- --- --- --- CIITA 4261 broad.mit.edu 37 16 11012370 11012370 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:11012370C>A ENST00000324288.8 + 16 3269 c.3136C>A c.(3136-3138)Ctg>Atg p.L1046M CIITA_ENST00000381835.5_Missense_Mutation_p.L462M NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1046 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CGCTGCATCCCTGCTCAGGCT 0.657 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ OREG0023606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 209 --- --- --- --- ACSM1 116285 broad.mit.edu 37 16 20682907 20682907 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:20682907G>T ENST00000307493.4 - 4 765 c.698C>A c.(697-699)cCc>cAc p.P233H ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 233 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TGCCATCTTGGGGAAGCCTGT 0.542 5 68 --- --- --- --- PLK1 5347 broad.mit.edu 37 16 23692271 23692271 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:23692271G>T ENST00000300093.4 + 3 725 c.614G>T c.(613-615)gGg>gTg p.G205V PLK1_ENST00000564202.1_Intron NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 205 Activation loop.|Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) GAATATGACGGGGAGAGGAAG 0.522 7 157 --- --- --- --- NLRC5 84166 broad.mit.edu 37 16 57116361 57116361 + Missense_Mutation SNP C C T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:57116361C>T ENST00000262510.6 + 49 5747 c.5522C>T c.(5521-5523)gCc>gTc p.A1841V NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1841 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCGACATGGCCCAGCACCTG 0.567 12 62 --- --- --- --- ATP6V0D1 9114 broad.mit.edu 37 16 67514914 67514914 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:67514914C>A ENST00000290949.3 - 1 226 c.76G>T c.(76-78)Ggg>Tgg p.G26W ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 26 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CTGAGCACCCCGGCCTTCAGG 0.662 4 62 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821572 72821572 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr16:72821572C>A ENST00000268489.5 - 10 11275 c.10603G>T c.(10603-10605)Gag>Tag p.E3535* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3535 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGCGCGCTCTCGCACGCCAGG 0.692 4 87 --- --- --- --- MYBBP1A 10514 broad.mit.edu 37 17 4443698 4443698 + Missense_Mutation SNP C C A rs150092179 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:4443698C>A ENST00000254718.4 - 25 3685 c.3379G>T c.(3379-3381)Ggc>Tgc p.G1127C MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1127 nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CGGCTGGAGCCGGTGGAGTGT 0.642 4 42 --- --- --- --- SLC25A11 8402 broad.mit.edu 37 17 4841355 4841355 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:4841355C>A ENST00000225665.7 - 7 1092 c.752G>T c.(751-753)cGg>cTg p.R251L SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L NM_001165417.1|NM_003562.4 NP_001158889.1|NP_003553.2 Q02978 M2OM_HUMAN solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 251 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 ATCAATCATCCGCATGTTCTG 0.622 4 137 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27613720 27613720 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:27613720C>A ENST00000225388.4 - 2 1350 c.1292G>T c.(1291-1293)gGg>gTg p.G431V NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 431 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) TGGCTGACCCCCTGGAGGATA 0.468 5 55 --- --- --- --- BLMH 642 broad.mit.edu 37 17 28599836 28599836 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:28599836C>A ENST00000261714.6 - 8 1057 c.883G>T c.(883-885)Ggg>Tgg p.G295W BLMH_ENST00000394819.3_Missense_Mutation_p.G208W NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 295 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 GTTTTTCTCCCTCCAACCATA 0.403 5 99 --- --- --- --- SLFN11 91607 broad.mit.edu 37 17 33690684 33690684 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:33690684C>A ENST00000394566.1 - 4 415 c.143G>T c.(142-144)cGg>cTg p.R48L SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 48 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACATGCAGCCCGCATAACTCT 0.458 6 201 --- --- --- --- C17orf78 284099 broad.mit.edu 37 17 35736258 35736258 + Missense_Mutation SNP C C G TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:35736258C>G ENST00000300618.4 + 3 379 c.329C>G c.(328-330)tCc>tGc p.S110C ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C NM_173625.3 NP_775896.3 Q8N4C9 CQ078_HUMAN chromosome 17 open reading frame 78 110 integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1) 6 Breast(25;0.00295)|Ovarian(249;0.15) AGCTCTGCCTCCTCAAGCTGT 0.458 6 136 --- --- --- --- RAB5C 5878 broad.mit.edu 37 17 40280784 40280784 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:40280784G>T ENST00000393860.3 - 4 517 c.201C>A c.(199-201)gaC>gaA p.D67E CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGACTGTTGTGTCATCCAGGC 0.577 12 66 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696643 47696643 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:47696643A>C ENST00000393331.3 - 6 775 c.305T>G c.(304-306)tTc>tGc p.F102C SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F102C(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAGAATTTGAATTTTGCCCG 0.408 Prostate(2;0.17) 15 79 --- --- --- --- UTP18 51096 broad.mit.edu 37 17 49371301 49371301 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:49371301C>A ENST00000225298.7 + 12 1598 c.1541C>A c.(1540-1542)cCa>cAa p.P514Q NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 514 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) TCAAACTTCCCAGTCATTAAA 0.368 4 35 --- --- --- --- WIPI1 55062 broad.mit.edu 37 17 66432555 66432555 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:66432555C>A ENST00000262139.5 - 5 495 c.496G>T c.(496-498)Ggg>Tgg p.G166W WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 166 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 ACAATCTCCCCTGAAGTCAGG 0.502 OREG0024688 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 102 --- --- --- --- PRPSAP1 5635 broad.mit.edu 37 17 74308971 74308971 + Nonsense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:74308971C>A ENST00000446526.3 - 9 1424 c.979G>T c.(979-981)Gag>Tag p.E327* PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224* NM_002766.2 NP_002757.2 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 1 298 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 GAGGACTCCTCAATCAGGCGA 0.478 5 118 --- --- --- --- HEXDC 284004 broad.mit.edu 37 17 80382311 80382311 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:80382311C>A ENST00000337014.6 + 3 600 c.126C>A c.(124-126)ctC>ctA p.L42L HEXDC_ENST00000577944.1_Silent_p.L42L|HEXDC_ENST00000327949.9_Silent_p.L42L NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 42 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) ACGGCCTCCTCATTGAGTATG 0.582 5 110 --- --- --- --- HEXDC 284004 broad.mit.edu 37 17 80398917 80398917 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:80398917G>T ENST00000337014.6 + 10 1501 c.1027G>T c.(1027-1029)Ggg>Tgg p.G343W HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W|HEXDC_ENST00000327949.9_Missense_Mutation_p.G343W NM_173620.2 NP_775891.2 Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 343 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GAACCTTCTCGGGATTTCCAG 0.592 5 268 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 6943285 6943285 + Missense_Mutation SNP G G C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr18:6943285G>C ENST00000389658.3 - 62 9054 c.8961C>G c.(8959-8961)caC>caG p.H2987Q NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2987 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGTGATACGGTGTTTGCTTT 0.493 5 137 --- --- --- --- SLC14A1 6563 broad.mit.edu 37 18 43311098 43311098 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr18:43311098C>A ENST00000321925.4 + 4 502 c.270C>A c.(268-270)ccC>ccA p.P90P RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000415427.3_Silent_p.P146P|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Silent_p.P90P NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 90 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 TTCAGAACCCCTGGTGGGCTC 0.547 5 70 --- --- --- --- ATP8B1 5205 broad.mit.edu 37 18 55319857 55319857 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr18:55319857C>A ENST00000536015.1 - 25 3239 c.3120G>T c.(3118-3120)ggG>ggT p.G1040G RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.G1040G NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1040 G -> R (in PFIC1). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) ATGTTAGGACCCCATGCAACA 0.463 6 99 --- --- --- --- KDM4B 23030 broad.mit.edu 37 19 5144058 5144058 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:5144058C>A ENST00000159111.4 + 19 2849 c.2631C>A c.(2629-2631)tcC>tcA p.S877S KDM4B_ENST00000536461.1_Silent_p.S911S NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 877 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GCTCCACGTCCTTCCACGTGA 0.627 5 101 --- --- --- --- HNRNPM 4670 broad.mit.edu 37 19 8551064 8551064 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:8551064G>T ENST00000348943.3 + 15 1867 c.1635G>T c.(1633-1635)atG>atT p.M545I HNRNPM_ENST00000325495.4_Missense_Mutation_p.M584I NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 584 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 TGGAGCGCATGGGTGCCAACA 0.721 5 98 --- --- --- --- OR7G1 125962 broad.mit.edu 37 19 9225971 9225971 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:9225971G>T ENST00000293614.1 - 1 468 c.469C>A c.(469-471)Ctg>Atg p.L157M OR7G1_ENST00000541538.1_Missense_Mutation_p.L157M Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 CTCTGAACCAGGGCATCCATA 0.483 5 110 --- --- --- --- RAVER1 125950 broad.mit.edu 37 19 10439413 10439413 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:10439413G>T ENST00000293677.6 - 3 793 c.712C>A c.(712-714)Cgc>Agc p.R238S NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 221 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CAGAGGCAGCGGGAGTGGAGA 0.672 3 28 --- --- --- --- ZNF790 388536 broad.mit.edu 37 19 37314238 37314238 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:37314238C>A ENST00000356725.4 - 4 298 c.178G>T c.(178-180)Ggg>Tgg p.G60W CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGCTCTTTCCCTTTCTCCAAT 0.453 4 43 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42880167 42880167 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:42880167G>T ENST00000334370.4 + 41 8212 c.7577G>T c.(7576-7578)cGg>cTg p.R2526L MEGF8_ENST00000251268.6_Missense_Mutation_p.R2593L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2593 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CGCGGCGTGCGGGACCGGCTG 0.692 4 98 --- --- --- --- ZNF576 79177 broad.mit.edu 37 19 44103213 44103213 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:44103213A>C ENST00000336564.4 + 3 470 c.316A>C c.(316-318)Act>Cct p.T106P ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P NM_001145347.1 NP_001138819.1 Q9H609 ZN576_HUMAN zinc finger protein 576 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|prostate(1) 2 Prostate(69;0.0199) GGTTGCAACCACTACTGCCCA 0.652 9 97 --- --- --- --- CADM4 199731 broad.mit.edu 37 19 44131831 44131831 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr19:44131831G>T ENST00000222374.2 - 2 224 c.176C>A c.(175-177)cCa>cAa p.P59Q NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 59 Ig-like V-type. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) CTGCCGGGCTGGGTTCTGGAT 0.587 5 140 --- --- --- --- TBC1D20 128637 broad.mit.edu 37 20 419417 419417 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:419417C>A ENST00000354200.4 - 8 1172 c.1025G>T c.(1024-1026)cGg>cTg p.R342L TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 342 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) AAACCGCTGCCGCAGCACCAT 0.557 4 129 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1433744 1433744 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:1433744C>A ENST00000216879.4 - 6 1446 c.579G>T c.(577-579)ctG>ctT p.L193L NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000381658.4_Silent_p.L82L NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 193 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 CTCCATTATCCAGGCTGAATC 0.468 6 204 --- --- --- --- SEL1L2 80343 broad.mit.edu 37 20 13856749 13856749 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:13856749C>A ENST00000284951.5 - 12 1113 c.1039G>T c.(1039-1041)Ggg>Tgg p.G347W SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 347 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 GCAGCATTCCCCTCTAAATAC 0.368 6 140 --- --- --- --- C20orf26 26074 broad.mit.edu 37 20 20180496 20180496 + Missense_Mutation SNP C C A rs116508993 byFrequency TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:20180496C>A ENST00000245957.5 + 17 1958 c.1882C>A c.(1882-1884)Ctg>Atg p.L628M C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 628 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TGTCTATCCTCTGGAAAAGCT 0.602 7 151 --- --- --- --- CEP250 11190 broad.mit.edu 37 20 34078501 34078501 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:34078501G>T ENST00000397527.1 + 21 3345 c.2625G>T c.(2623-2625)aaG>aaT p.K875N CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 875 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGCTGGCAAAGGCTCTGGAGA 0.547 5 101 --- --- --- --- CEP250 11190 broad.mit.edu 37 20 34092575 34092575 + Silent SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:34092575C>A ENST00000397527.1 + 30 7098 c.6378C>A c.(6376-6378)ccC>ccA p.P2126P CEP250_ENST00000342580.4_Silent_p.P2070P NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2126 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGCCTTACCCCACAGCCACA 0.537 6 127 --- --- --- --- CABLES2 81928 broad.mit.edu 37 20 60966501 60966501 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:60966501C>A ENST00000279101.5 - 9 1108 c.1100G>T c.(1099-1101)cGg>cTg p.R367L NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 367 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CCGCATCTCCCGCTTTAAGCT 0.642 5 134 --- --- --- --- NPBWR2 2832 broad.mit.edu 37 20 62737951 62737951 + Silent SNP C C T rs142068571 TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr20:62737951C>T ENST00000369768.1 - 1 573 c.234G>A c.(232-234)acG>acA p.T78T NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 78 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CGTTGGTCACCGTCTTCATCT 0.617 4 17 --- --- --- --- USP18 11274 broad.mit.edu 37 22 18640582 18640582 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr22:18640582C>A ENST00000215794.7 + 2 582 c.152C>A c.(151-153)cCt>cAt p.P51H NM_017414.3 NP_059110.2 Q9UMW8 UBP18_HUMAN ubiquitin specific peptidase 18 51 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 TGGGACTACCCTCATGGTCAT 0.552 6 113 --- --- --- --- THAP7 80764 broad.mit.edu 37 22 21355055 21355055 + Missense_Mutation SNP C C A TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr22:21355055C>A ENST00000215742.4 - 3 432 c.258G>T c.(256-258)gaG>gaT p.E86D THAP7_ENST00000399133.2_Missense_Mutation_p.E86D NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 86 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGACTGCCCCCTCCTTTAGCC 0.602 6 125 --- --- --- --- PATZ1 23598 broad.mit.edu 37 22 31741056 31741056 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr22:31741056G>T ENST00000266269.5 - 1 1162 c.533C>A c.(532-534)cCt>cAt p.P178H PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 178 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CGAGGTCCCAGGGGGGCGAAA 0.592 5 122 --- --- --- --- KIF4A 24137 broad.mit.edu 37 X 69550106 69550106 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chrX:69550106G>T ENST00000374403.3 + 9 1077 c.995G>T c.(994-996)aGa>aTa p.R332I KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 332 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 TATGCTGACAGAGCAAGAAAA 0.388 5 109 --- --- --- --- PCDH11X 27328 broad.mit.edu 37 X 91134001 91134001 + Missense_Mutation SNP G G T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chrX:91134001G>T ENST00000373094.1 + 2 3607 c.2762G>T c.(2761-2763)tGg>tTg p.W921L PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 921 homophilic cell adhesion integral to plasma membrane calcium ion binding p.W921L(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AAGTACAATTGGGTAACTACA 0.448 6 128 --- --- --- --- MAGOH 4116 broad.mit.edu 37 1 53692751 53692752 + Frame_Shift_Del DEL AG AG - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr1:53692751_53692752delAG ENST00000371470.3 - 5 567_568 c.406_407delCT c.(406-408)cttfs p.L136fs MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 136 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 TAATCCAATAAGACTGAAGACC 0.376 8 34 --- --- --- --- MRPS25 64432 broad.mit.edu 37 3 15094107 15094108 + Frame_Shift_Ins INS - - T TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr3:15094107_15094108insT ENST00000253686.2 - 4 502_503 c.362_363insA c.(361-363)aagfs p.K121fs MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000449354.2_Intron NM_022497.3 NP_071942.1 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 121 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome large_intestine(1)|lung(1) 2 GAGAAAGCTGCTTTTTCTCCTC 0.579 16 261 --- --- --- --- CDH9 1007 broad.mit.edu 37 5 26886127 26886127 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr5:26886127delT ENST00000231021.4 - 10 1750 c.1578delA c.(1576-1578)gaafs p.E526fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CTGGCACTGGTTCAAAAAAGA 0.313 33 171 --- --- --- --- DUSP13 51207 broad.mit.edu 37 10 76855428 76855429 + Frame_Shift_Ins INS - - AA TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr10:76855428_76855429insAA ENST00000491677.2 - 7 1227_1228 c.685_686insTT c.(685-687)tatfs p.Y229fs DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.Y100fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 91 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTCGATGCCATAGTACTCCAGG 0.559 35 178 --- --- --- --- CEP112 201134 broad.mit.edu 37 17 63739297 63739297 + Frame_Shift_Del DEL T T - TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx fa166681-7b67-4137-822c-f90e30c628f9 3ec3e955-a945-47a2-917e-9a042e66e800 g.chr17:63739297delT ENST00000392769.2 - 23 2714 c.2496delA c.(2494-2496)aaafs p.K832fs CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000541355.1_Intron NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 832 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TGTTCTCTTCTTTCAGAGAGG 0.408 40 152 --- --- --- ---