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 pox qox pox_cutoff isArtifactMode oxoGCut SEPT1 1731 broad.mit.edu 37 16 30389949 30389949 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:30389949G>A ENST00000321367.3 - 11 1185 c.1140C>T c.(1138-1140)atC>atT p.I380I SEPT1_ENST00000571393.1_Silent_p.I333I|SEPT1_ENST00000605106.1_Silent_p.I338I NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 333 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) CTTTCTCGCGGATCAGCTTCT 0.657000 4 44 0 0 1 0 0 ZNF519 162655 broad.mit.edu 37 18 14105045 14105045 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:14105045G>A ENST00000590202.1 - 3 1646 c.1494C>T c.(1492-1494)acC>acT p.T498T ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 GTGAGCTCCTGGTAAAAGCTT 0.408000 10 121 0 0 1 0 0 WDR46 9277 broad.mit.edu 37 6 33255197 33255197 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:33255197T>A ENST00000374617.4 - 8 1170 c.814A>T c.(814-816)Atc>Ttc p.I272F NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 272 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CAGCGGCGGATACAGTGGAGC 0.562000 18 52 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27193200 27193200 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:27193200C>G ENST00000335625.5 + 11 2097 c.1209C>G c.(1207-1209)gtC>gtG p.V403V GABRA5_ENST00000400081.3_Silent_p.V403V|GABRA5_ENST00000355395.5_Silent_p.V403V NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 403 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAACCTCAGTCTCAGTAAAAC 0.428000 3 18 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279767 217279767 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:217279767C>T ENST00000357276.4 + 3 670 c.340C>T c.(340-342)Cgt>Tgt p.R114C SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R114C NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 114 R -> H (in dbSNP:rs11555797). chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCACAGTCCACGTAGTCAAAT 0.488000 Schimke Immuno-Osseous Dysplasia 6 58 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134751107 134751107 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:134751107C>T ENST00000368586.5 - 6 709 c.609G>A c.(607-609)ccG>ccA p.P203P TTC40_ENST00000368585.3_Silent_p.P203P|TTC40_ENST00000368582.2_Silent_p.P203P NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 0 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 ACTTAATGAACGGAGCTGCCG 0.443000 31 233 0 0 1 0 0 KCNIP2 30819 broad.mit.edu 37 10 103587992 103587992 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:103587992C>G ENST00000358038.3 - 6 810 c.459G>C c.(457-459)gtG>gtC p.V153V KCNIP2_ENST00000348850.5_Silent_p.V126V|KCNIP2_ENST00000461105.1_Silent_p.V186V|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Silent_p.V171V|KCNIP2_ENST00000353068.3_Silent_p.V128V|KCNIP2_ENST00000343195.4_Silent_p.V121V|KCNIP2_ENST00000370046.1_Intron NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 171 EF-hand 2. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CCCGAAGAATCACGGACAAAC 0.542000 13 88 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213059 13213059 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:13213059G>A ENST00000378694.1 + 2 220 c.145G>A c.(145-147)Gac>Aac p.D49N MCM10_ENST00000378714.3_Missense_Mutation_p.D49N|MCM10_ENST00000484800.2_Missense_Mutation_p.D49N Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 49 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 CTTTGATGCCGACGGCGACGG 0.458000 6 217 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 3 16 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083352 6083352 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:6083352C>T ENST00000409021.3 - 6 1534 c.1085G>A c.(1084-1086)cGg>cAg p.R362Q JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R197Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R362Q|JAKMIP1_ENST00000457227.2_5'UTR NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 362 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CACGTTTTCCCGCGTGAGGTT 0.527000 5 85 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468860 86468860 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:86468860C>T ENST00000361669.2 + 4 3129 c.2030C>T c.(2029-2031)gCt>gTt p.A677V GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269V|GRM3_ENST00000536043.1_Missense_Mutation_p.A549V NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 677 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAGAATGGCGCTCAGAGGCCA 0.547000 12 96 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588290 179588290 + Silent SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:179588290T>C ENST00000589042.1 - 74 21761 c.21537A>G c.(21535-21537)aaA>aaG p.K7179K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K5935K|TTN_ENST00000591111.1_Silent_p.K6862K|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6862 Ig-like 53. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCGGTCTCCTTTCACTAGTT 0.423000 15 35 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168369850 168369850 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:168369850C>T ENST00000366806.2 + 33 5435 c.5293C>T c.(5293-5295)Cgg>Tgg p.R1765W MLLT4_ENST00000351017.4_Missense_Mutation_p.R1772W|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1765W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1775W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1684W P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 1765 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TGACGCCTGTCGGGATGCAAA 0.468000 T MLL AL 4 55 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86037123 86037123 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:86037123G>C ENST00000414626.2 + 7 2050 c.1161G>C c.(1159-1161)aaG>aaC p.K387N LRRCC1_ENST00000360375.3_Missense_Mutation_p.K407N Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 407 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AAAAGCCAAAGACTGAAATAA 0.299000 18 290 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50479651 50479651 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr22:50479651T>C ENST00000266182.6 - 8 885 c.886A>G c.(886-888)Atg>Gtg p.M296V TTLL8_ENST00000440475.1_Intron tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TCAAATGACATCATAACCTTC 0.552000 40 126 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53994186 53994186 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:53994186C>G ENST00000396403.4 + 4 828 c.700C>G c.(700-702)Caa>Gaa p.Q234E ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAGGAAACATCAAATAATCCA 0.383000 14 150 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95546634 95546634 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:95546634C>A ENST00000325542.5 + 4 623 c.385C>A c.(385-387)Ctg>Atg p.L129M CEP57_ENST00000537677.1_Missense_Mutation_p.L102M|CEP57_ENST00000538658.1_Missense_Mutation_p.L129M|CEP57_ENST00000541150.1_Missense_Mutation_p.L120M|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.L129M NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 129 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTTTTAGAACTGACATCTCA 0.313000 Mosaic Variegated Aneuploidy Syndrome 11 29 2.27111e-07 2.45974e-07 1 1 0 GPR4 2828 broad.mit.edu 37 19 46094344 46094344 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:46094344C>G ENST00000323040.4 - 2 1725 c.781G>C c.(781-783)Gag>Cag p.E261Q OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 261 integral to plasma membrane G-protein coupled receptor activity p.E261*(3) breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ACGCGCTCCTCGAAGCCGCAG 0.637000 5 97 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136913455 136913455 + Silent SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:136913455A>G ENST00000359015.4 - 23 3441 c.3081T>C c.(3079-3081)gaT>gaC p.D1027D MAP3K5_ENST00000355845.4_Silent_p.D274D NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1027 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GAGCACTGTGATCTTCAAAAT 0.438000 28 259 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879044 144879044 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:144879044G>A ENST00000369359.4 - 30 4852 c.4814C>T c.(4813-4815)tCg>tTg p.S1605L PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1605L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1469L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1425L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1469 NBPF. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCCAGGCCACGAGGCTGATCT 0.507000 T PDGFRB MPD 13 286 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187894 37187894 + RNA SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:37187894T>C ENST00000425901.2 + 0 1736 NR_033753.2 GGAACTTACCTTAACTCCAGA 0.488000 10 87 0 0 1 0 0 RGS3 5998 broad.mit.edu 37 9 116357928 116357928 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:116357928G>C ENST00000374140.2 + 25 3503 c.3294G>C c.(3292-3294)gaG>gaC p.E1098D RGS3_ENST00000350696.5_Missense_Mutation_p.E1098D|RGS3_ENST00000343817.5_Missense_Mutation_p.E817D|RGS3_ENST00000374134.3_Missense_Mutation_p.E419D|RGS3_ENST00000462143.1_Missense_Mutation_p.E419D|RGS3_ENST00000394646.3_Missense_Mutation_p.E491D|RGS3_ENST00000462403.1_Missense_Mutation_p.E211D|RGS3_ENST00000342620.5_Missense_Mutation_p.E68D NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 1098 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TCAGTGAGGAGAATCTGGAGT 0.517000 6 130 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710535 71710535 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:71710535G>A ENST00000393524.2 - 8 2019 c.1286C>T c.(1285-1287)aCc>aTc p.T429I PHLPP2_ENST00000568954.1_Missense_Mutation_p.T429I|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T429I|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T464I|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T429I Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 429 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AATAACCATGGTTTTCAAATG 0.368000 17 81 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249438 140249438 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:140249438C>A ENST00000398640.2 + 1 750 c.750C>A c.(748-750)agC>agA p.S250R PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAAGGTGAGCCTTATGGAAA 0.438000 6 15 0.00116845 0.00120542 1 1 0 HAUS2 55142 broad.mit.edu 37 15 42851582 42851582 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:42851582G>A ENST00000260372.3 + 3 295 c.232G>A c.(232-234)Gat>Aat p.D78N HAUS2_ENST00000568846.2_Missense_Mutation_p.D47N|HAUS2_ENST00000568876.1_Missense_Mutation_p.D47N NM_018097.2 NP_060567.1 Q9NVX0 HAUS2_HUMAN HAUS augmin-like complex, subunit 2 78 cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly centrosome|cytosol|HAUS complex|microtubule|spindle endometrium(1)|large_intestine(1)|lung(1) 3 AGATACAGCAGATGTTGTTCA 0.368000 11 64 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117661121 117661121 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:117661121C>T ENST00000256649.4 - 2 1283 c.757G>A c.(757-759)Gag>Aag p.E253K TRIM45_ENST00000369461.3_Missense_Mutation_p.E196K|TRIM45_ENST00000369464.3_Missense_Mutation_p.E253K NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 253 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) AGGGCTTCCTCCAGGGCCTCC 0.567000 9 57 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93646165 93646165 + Nonsense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:93646165C>A ENST00000394236.3 - 2 479 c.163G>T c.(163-165)Gaa>Taa p.E55* PROS1_ENST00000407433.1_5'UTR NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 55 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CATTCTCTTTCAAGATTACCC 0.403000 18 185 3.51602e-12 3.89871e-12 1 1 0 ZNF462 58499 broad.mit.edu 37 9 109685854 109685854 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:109685854G>T ENST00000277225.5 + 2 479 c.190G>T c.(190-192)Gat>Tat p.D64Y RP11-508N12.4_ENST00000451160.2_Missense_Mutation_p.D64Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.D64Y Q96JM2 ZN462_HUMAN zinc finger protein 462 64 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TTCTATAAAGGATGAATTTGC 0.418000 11 129 0.00010058 0.000104424 1 1 0 OR7A17 26333 broad.mit.edu 37 19 14991960 14991960 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:14991960C>G ENST00000327462.2 - 1 304 c.208G>C c.(208-210)Gac>Cac p.D70H NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) AAACAGATGTCTGCAAAGGAC 0.507000 7 88 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16359523 16359523 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:16359523C>T ENST00000354981.2 - 19 3281 c.3124G>A c.(3124-3126)Ggc>Agc p.G1042S KIF16B_ENST00000378003.2_Missense_Mutation_p.G268S|KIF16B_ENST00000355755.3_Missense_Mutation_p.G1042S|KIF16B_ENST00000408042.1_Missense_Mutation_p.G1042S NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1042 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCTCTGCTGCCACTGTTCAGA 0.602000 8 200 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42164481 42164481 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:42164481C>T ENST00000444063.1 + 14 1692 c.1560C>T c.(1558-1560)ccC>ccT p.P520P L3MBTL1_ENST00000418998.1_Silent_p.P588P|L3MBTL1_ENST00000427442.2_Silent_p.P588P|L3MBTL1_ENST00000373135.3_Silent_p.P520P|L3MBTL1_ENST00000373134.1_Silent_p.P520P Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 520 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TTTTAGGACCCAGAGAGCCCA 0.612000 6 91 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179510677 179510677 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:179510677C>A ENST00000589042.1 - 217 40602 c.40378G>T c.(40378-40380)Gat>Tat p.D13460Y TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D10892Y|TTN_ENST00000591111.1_Missense_Mutation_p.D11819Y|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11819 Ig-like 90. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTTCACATCTTCCTTAGGT 0.408000 3 11 0.014758 0.0148951 1 1 0 LRRIQ4 344657 broad.mit.edu 37 3 169540093 169540093 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:169540093C>T ENST00000340806.6 + 1 384 c.384C>T c.(382-384)acC>acT p.T128T NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 128 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TCTACCAGACCGACCTGAAGG 0.567000 13 120 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5868411 5868411 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:5868411C>T ENST00000324989.7 - 2 542 c.454G>A c.(454-456)Gag>Aag p.E152K CRMP1_ENST00000512574.1_Missense_Mutation_p.E36K|CRMP1_ENST00000397890.2_Missense_Mutation_p.E38K|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 38 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) AGTCCATCCTCCAGGTAGACG 0.483000 19 105 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86537765 86537765 + Silent SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:86537765A>G ENST00000450689.2 - 17 2639 c.2454T>C c.(2452-2454)taT>taC p.Y818Y KIAA1324L_ENST00000444627.1_Silent_p.Y747Y|KIAA1324L_ENST00000297222.6_Silent_p.Y578Y|KIAA1324L_ENST00000416314.1_Silent_p.Y651Y NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 818 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TCACTTACTTATAAAAGAAAT 0.294000 18 99 0 0 1 0 0 SPIDR 23514 broad.mit.edu 37 8 48353027 48353027 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:48353027G>C ENST00000297423.4 + 8 1404 c.1020G>C c.(1018-1020)ctG>ctC p.L340L SPIDR_ENST00000518074.1_Silent_p.L280L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.L270L NM_001080394.2 NP_001073863.1 scaffolding protein involved in DNA repair GAGCTGGCCTGAAAGTTCTCT 0.577000 4 106 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18965503 18965503 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:18965503C>T ENST00000262803.5 + 9 1522 c.1250C>T c.(1249-1251)tCg>tTg p.S417L UPF1_ENST00000599848.1_Missense_Mutation_p.S428L NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 428 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GTGTGGAAGTCGACCTCCTTT 0.567000 12 146 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100673707 100673707 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:100673707C>G ENST00000358544.2 + 35 6220 c.6109C>G c.(6109-6111)Ctg>Gtg p.L2037V VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2012V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2037 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TAAAGACTTTCTGAATGGACC 0.338000 8 65 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21660589 21660589 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:21660589G>A ENST00000317571.3 + 5 737 c.501G>A c.(499-501)aaG>aaA p.K167K TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Silent_p.K106K|RP11-403A21.3_ENST00000578443.1_RNA NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 167 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 AAGCCTGGAAGATTTACAATA 0.358000 12 99 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153475432 153475432 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:153475432C>G ENST00000288670.9 + 14 1754 c.1387C>G c.(1387-1389)Caa>Gaa p.Q463E NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 463 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AGAAGCAATTCAAAGACAGTC 0.373000 7 55 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868949 97868949 + Silent SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:97868949C>A ENST00000437310.1 + 1 780 c.720C>A c.(718-720)acC>acA p.T240T NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCTTCTCCACCTGTGGAGCTC 0.413000 29 81 8.58068e-18 9.78078e-18 1 1 0 FBXO15 201456 broad.mit.edu 37 18 71749185 71749185 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:71749185C>T ENST00000269500.5 - 9 1347 c.1012G>A c.(1012-1014)Gat>Aat p.D338N FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.D414N NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 338 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TCAAAAATATCAGTTTTCCAC 0.279000 11 79 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518001 113518001 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:113518001G>A ENST00000284601.3 - 4 3214 c.3146C>T c.(3145-3147)tCt>tTt p.S1049F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1049 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AGTAGAAGCAGAGCTGTCAGA 0.373000 20 244 0 0 1 0 0 C14orf105 55195 broad.mit.edu 37 14 57960409 57960409 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:57960409G>A ENST00000216445.3 - 1 161 c.25C>T c.(25-27)Cac>Tac p.H9Y C14orf105_ENST00000526336.1_Missense_Mutation_p.H9Y|C14orf105_ENST00000422976.2_Missense_Mutation_p.H9Y|C14orf105_ENST00000534126.1_Missense_Mutation_p.H9Y NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 9 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 ACCCTAAGGTGAGTCTTAGAG 0.428000 7 55 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120599312 120599312 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:120599312G>A ENST00000300648.6 - 22 2430 c.2418C>T c.(2416-2418)atC>atT p.I806I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 806 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTCCAGCTCGATGATCTGCT 0.522000 24 148 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592193 125592193 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:125592193C>G ENST00000504087.1 - 4 3276 c.2239G>C c.(2239-2241)Gat>Cat p.D747H ANKRD50_ENST00000515641.1_Missense_Mutation_p.D568H NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 747 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GTCATGCCATCTTTATCACAA 0.453000 15 91 0 0 1 0 0 COPRS 55352 broad.mit.edu 37 17 30179992 30179992 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:30179992G>A ENST00000378634.2 - 3 441 c.188C>T c.(187-189)tCt>tTt p.S63F COPRS_ENST00000302362.6_Missense_Mutation_p.S75F coordinator of PRMT5, differentiation stimulator TTCCTCTTCAGAATGGGTGCC 0.512000 28 300 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63991675 63991675 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:63991675G>C ENST00000324472.4 - 14 1558 c.1375C>G c.(1375-1377)Ctt>Gtt p.L459V NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 459 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GCTGCTATAAGATCACTCAGG 0.313000 11 101 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064653 7064653 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:7064653A>T ENST00000299481.4 + 4 1742 c.1396A>T c.(1396-1398)Att>Ttt p.I466F NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 466 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CAGCAATATTATTCAGAAGGA 0.388000 22 118 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169569448 169569448 + Missense_Mutation SNP A A C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:169569448A>C ENST00000316428.5 - 7 1175 c.1118T>G c.(1117-1119)aTc>aGc p.I373S LRRC31_ENST00000523069.1_Missense_Mutation_p.I373S|LRRC31_ENST00000264676.5_Missense_Mutation_p.I317S NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 373 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) ACAGTTGTTGATAACTAATGA 0.418000 13 120 0 0 1 0 0 FAM196A 642938 broad.mit.edu 37 10 128973746 128973746 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:128973746A>T ENST00000522781.1 - 4 1469 c.914T>A c.(913-915)cTg>cAg p.L305Q DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.L305Q NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 305 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGAGCAGGCCAGGGCAGTTTC 0.672000 6 70 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127569194 127569194 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:127569194T>C ENST00000284690.3 - 1 690 c.200A>G c.(199-201)gAa>gGa p.E67G DHX32_ENST00000284688.6_Missense_Mutation_p.E67G NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 67 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GGAGTATTTTTCTTTCCATAT 0.378000 9 85 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76713618 76713618 + Silent SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:76713618C>A ENST00000369950.3 - 11 1374 c.1185G>T c.(1183-1185)ctG>ctT p.L395L IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 395 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AAGATGTGGGCAGCTCTGATT 0.383000 8 68 0.00621372 0.00629091 1 1 0 PZP 5858 broad.mit.edu 37 12 9309893 9309893 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:9309893T>C ENST00000261336.2 - 28 3456 c.3428A>G c.(3427-3429)gAg>gGg p.E1143G PZP_ENST00000381997.2_Missense_Mutation_p.E929G 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 ATGGGTCCCCTCCTTTGCTAC 0.468000 30 102 0 0 1 0 0 SLFN13 146857 broad.mit.edu 37 17 33768044 33768044 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:33768044T>A ENST00000285013.6 - 6 2539 c.2264A>T c.(2263-2265)aAt>aTt p.N755I SLFN13_ENST00000542635.1_Missense_Mutation_p.N755I|SLFN13_ENST00000360502.2_Missense_Mutation_p.N437I|SLFN13_ENST00000533791.1_Missense_Mutation_p.N755I|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437I|SLFN13_ENST00000526861.1_Missense_Mutation_p.N755I NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 755 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATGGGGGATATTAATTGGAGG 0.383000 25 180 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1369264 1369264 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:1369264C>G ENST00000389851.4 + 9 1848 c.1401C>G c.(1399-1401)ctC>ctG p.L467L UVSSA_ENST00000512728.1_Silent_p.L18L|UVSSA_ENST00000511563.1_Silent_p.L18L|UVSSA_ENST00000511216.1_Silent_p.L467L|UVSSA_ENST00000507531.1_Silent_p.L467L NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 467 TGCGGCAGCTCCGGGACCACT 0.662000 11 107 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755818 140755818 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:140755818G>A ENST00000517434.1 + 1 2168 c.2168G>A c.(2167-2169)cGc>cAc p.R723H PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAAGTCACGCCTGCTGCAG 0.647000 33 128 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51449336 51449336 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:51449336C>G ENST00000522124.1 + 11 1309 c.648C>G c.(646-648)ttC>ttG p.F216L SNTG1_ENST00000517473.1_Missense_Mutation_p.F216L|SNTG1_ENST00000518864.1_Missense_Mutation_p.F216L|SNTG1_ENST00000276467.5_Missense_Mutation_p.F216L NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 216 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTCGCGCTTCTCTCAGTATG 0.483000 20 216 0 0 1 0 0 TIGD3 220359 broad.mit.edu 37 11 65123763 65123763 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:65123763C>G ENST00000309880.5 + 2 691 c.484C>G c.(484-486)Ctt>Gtt p.L162V NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 162 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TCAGCTGCCTCTTTCCCTAAA 0.592000 6 261 0 0 1 0 0 TMEM27 57393 broad.mit.edu 37 X 15682496 15682496 + Silent SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:15682496C>A ENST00000380342.3 - 2 336 c.81G>T c.(79-81)gtG>gtT p.V27V NM_020665.4 NP_065716.1 Q9HBJ8 TMM27_HUMAN transmembrane protein 27 27 proteolysis integral to membrane metallopeptidase activity|peptidyl-dipeptidase activity endometrium(3)|lung(4)|ovary(1) 8 Hepatocellular(33;0.183) TACTAAGTCTCACTTTAAAAG 0.358000 3 16 0.150653 0.150653 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 3 29 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72935163 72935163 + Missense_Mutation SNP T T G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:72935163T>G ENST00000262209.4 - 27 3545 c.3338A>C c.(3337-3339)aAa>aCa p.K1113T RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1113 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ATGGTGTGTTTTTGCCTTGAC 0.423000 11 93 0 0 1 0 0 MLH1 4292 broad.mit.edu 37 3 37090050 37090050 + Missense_Mutation SNP G G C rs63750109 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:37090050G>C ENST00000231790.2 + 17 2155 c.1939G>C c.(1939-1941)Gtg>Ctg p.V647L MLH1_ENST00000435176.1_Missense_Mutation_p.V549L|MLH1_ENST00000458205.2_Missense_Mutation_p.V406L|MLH1_ENST00000536378.1_Missense_Mutation_p.V406L|MLH1_ENST00000539477.1_Missense_Mutation_p.V406L|MLH1_ENST00000455445.2_Missense_Mutation_p.V406L NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 647 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TGACAACTATGTGCCCCCTTT 0.448000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 31 190 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47621631 47621631 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:47621631G>A ENST00000371917.4 + 26 3457 c.3457G>A c.(3457-3459)Gtg>Atg p.V1153M NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1153 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TAATGAAGATGTGGCTATCTT 0.433000 9 363 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649190 47649190 + Nonsense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:47649190G>T ENST00000398742.2 + 5 740 c.691G>T c.(691-693)Gga>Tga p.G231* GPR111_ENST00000507065.1_Nonsense_Mutation_p.G231*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.G299* Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 299 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CACCATATCTGGAGATAACAT 0.378000 17 115 1.5739e-10 1.73341e-10 1 1 0 BMS1 9790 broad.mit.edu 37 10 43318566 43318566 + Splice_Site SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:43318566G>A ENST00000374518.4 + 20 3196 c.3132_splice c.e20-1 p.G1045_splice NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1045 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATACCTGTAGGGAATGTTTAA 0.388000 4 131 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78360157 78360157 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:78360157C>G ENST00000582970.1 + 62 14790 c.14647C>G c.(14647-14649)Ctc>Gtc p.L4883V CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2956V|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4932V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCTACCGCTCTCGTCAGCTA 0.532000 4 177 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135801212 135801212 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:135801212G>A ENST00000264977.3 + 8 3354 c.2737G>A c.(2737-2739)Gat>Aat p.D913N PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D177N|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D292N NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 913 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTAGATACTGATCACGACCT 0.358000 49 799 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615620 179615620 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:179615620C>T ENST00000360870.5 - 46 11729 c.11507G>A c.(11506-11508)aGa>aAa p.R3836K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9671 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTGTCCTCTTGCTTGGGT 0.373000 5 132 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721723 135721723 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:135721723C>T ENST00000264977.3 + 2 2000 c.1383C>T c.(1381-1383)tgC>tgT p.C461C PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 461 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTAAAAAATGCCCCACCCCAA 0.328000 7 658 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394092 52394092 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:52394092C>T ENST00000354957.3 - 5 1581 c.1297G>A c.(1297-1299)Gat>Aat p.D433N ZNF649_ENST00000600738.1_Missense_Mutation_p.D405N|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TCACACTCATCACAGCCATAG 0.438000 40 220 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117660854 117660854 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:117660854C>G ENST00000256649.4 - 2 1550 c.1024G>C c.(1024-1026)Gag>Cag p.E342Q TRIM45_ENST00000369461.3_Missense_Mutation_p.E285Q|TRIM45_ENST00000369464.3_Missense_Mutation_p.E342Q NM_025188.3 NP_079464.2 Q9H8W5 TRI45_HUMAN tripartite motif containing 45 342 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) ATGAGGATCTCCAAGTCTGAG 0.532000 18 97 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58559753 58559753 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:58559753C>G ENST00000348616.4 + 6 901 c.601C>G c.(601-603)Caa>Gaa p.Q201E CDH26_ENST00000244047.5_Missense_Mutation_p.Q201E NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 201 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) TCCAAATTCTCAAGTCCTTTA 0.373000 17 213 0 0 1 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374461 95374461 + RNA SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:95374461G>T ENST00000494840.1 - 0 1400 NR_077228.1 TCTGGAAGAGGCAGCTGAACA 0.378000 9 63 3.09899e-07 3.34526e-07 1 1 0 TPR 7175 broad.mit.edu 37 1 186302476 186302476 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:186302476T>C ENST00000367478.3 - 37 5529 c.5233A>G c.(5233-5235)Agt>Ggt p.S1745G NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1745 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ACGGATCCACTTGTGCTTCCA 0.403000 T NTRK1 papillary thyroid 35 110 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1424759 1424759 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:1424759G>C ENST00000446702.2 + 18 2927 c.2300G>C c.(2299-2301)aGc>aCc p.S767T CNTN6_ENST00000350110.2_Missense_Mutation_p.S767T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S695T Q9UQ52 CNTN6_HUMAN contactin 6 767 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGAAATGAAAGCATCATCCCA 0.448000 12 66 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060290 111060290 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:111060290C>T ENST00000369771.2 - 1 1507 c.1120G>A c.(1120-1122)Gag>Aag p.E374K NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 374 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AACCCCAACTCCCGCATGGAC 0.552000 8 106 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104730610 104730610 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:104730610C>A ENST00000334877.4 + 14 2047 c.1513C>A c.(1513-1515)Caa>Aaa p.Q505K KMT2E_ENST00000257745.4_Missense_Mutation_p.Q505K|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q505K|KMT2E_ENST00000476671.1_Missense_Mutation_p.Q505K|KMT2E_ENST00000334914.7_5'UTR lysine (K)-specific methyltransferase 2E AAAAGATACACAAAATCAGAA 0.333000 7 138 8.12818e-05 8.46578e-05 1 1 0 FREM2 341640 broad.mit.edu 37 13 39425231 39425231 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr13:39425231G>C ENST00000280481.7 + 10 6944 c.6728G>C c.(6727-6729)cGa>cCa p.R2243P NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2243 Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATAAGGATCCGAGATGATGCT 0.423000 11 89 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32906550 32906550 + Missense_Mutation SNP T T G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr13:32906550T>G ENST00000544455.1 + 10 1162 c.935T>G c.(934-936)tTt>tGt p.F312C BRCA2_ENST00000380152.3_Missense_Mutation_p.F312C NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 312 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCATTATGTTTTTCTAAATGT 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 53 103 0 0 1 0 0 PNPLA4 8228 broad.mit.edu 37 X 7890081 7890081 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:7890081G>T ENST00000381042.4 - 3 409 c.239C>A c.(238-240)gCa>gAa p.A80E PNPLA4_ENST00000537427.1_5'UTR|PNPLA4_ENST00000444736.1_Missense_Mutation_p.A80E NM_004650.2 NP_004641.1 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 80 Patatin. lipid catabolic process triglyceride lipase activity kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) GGGCGTTACTGCCCCGAAAGA 0.408000 6 54 0.00198382 0.00203373 1 1 0 BPTF 2186 broad.mit.edu 37 17 65909123 65909123 + Missense_Mutation SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:65909123A>G ENST00000321892.4 + 13 5562 c.5501A>G c.(5500-5502)tAt>tGt p.Y1834C BPTF_ENST00000306378.6_Missense_Mutation_p.Y1708C|BPTF_ENST00000335221.5_Missense_Mutation_p.Y1834C|BPTF_ENST00000424123.3_Missense_Mutation_p.Y1695C Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1834 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGCCATCCTATAGAAAATTT 0.408000 17 81 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996369 140996369 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:140996369C>A ENST00000285879.4 + 4 3465 c.3179C>A c.(3178-3180)cCc>cAc p.P1060H MAGEC1_ENST00000406005.2_Missense_Mutation_p.P127H NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1060 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CGGGAGGTGCCCAACTCTTCT 0.517000 HNSCC(15;0.026) 27 176 1.1804e-14 1.32237e-14 1 1 0 GCC2 9648 broad.mit.edu 37 2 109099602 109099602 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:109099602G>C ENST00000309863.6 + 12 4144 c.3430G>C c.(3430-3432)Gaa>Caa p.E1144Q NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1144 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AACCATGCAAGAATTAGAGCT 0.313000 17 48 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43604625 43604625 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:43604625T>A ENST00000409746.5 - 3 233 c.162A>T c.(160-162)aaA>aaT p.K54N PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.K54N NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 54 FCH. membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TGAGCAGATCTTTGCCATACC 0.458000 5 242 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843569 4843569 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:4843569C>G ENST00000322110.5 + 1 1019 c.954C>G c.(952-954)atC>atG p.I318M MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 318 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I318I(1) breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCCATTATCAAGGTCTTAA 0.363000 20 148 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11190781 11190781 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:11190781T>C ENST00000379446.5 - 5 1487 c.1321A>G c.(1321-1323)Atg>Gtg p.M441V RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.M441V NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 441 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) TGTCTTTCCATATATCCGTAA 0.522000 12 42 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122396334 122396334 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:122396334G>T ENST00000288912.4 + 12 2741 c.1887G>T c.(1885-1887)atG>atT p.M629I WDR66_ENST00000397454.2_Missense_Mutation_p.M629I NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 629 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TCTGTGGGATGATCAAAGTGT 0.458000 6 246 0.0215528 0.0216858 1 1 0 KCNH1 3756 broad.mit.edu 37 1 210856679 210856679 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:210856679C>G ENST00000367007.4 - 11 3002 c.2833G>C c.(2833-2835)Gaa>Caa p.E945Q KCNH1_ENST00000271751.4_Missense_Mutation_p.E972Q NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 972 CAD (involved in subunit assembly) (By similarity). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTCGATATTTCAAACAACTCC 0.433000 16 169 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44680026 44680026 + Missense_Mutation SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:44680026A>G ENST00000590089.1 + 7 978 c.611A>G c.(610-612)gAt>gGt p.D204G ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.D204G|ZNF226_ENST00000454662.2_Missense_Mutation_p.D204G Q9NYT6 ZN226_HUMAN zinc finger protein 226 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) AAGGGTGTTGATCCCATCGGT 0.343000 8 79 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090596 238090596 + RNA SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:238090596G>A ENST00000450451.1 + 0 2102 NR_027247.2 AGGGACTCTGGAGATGGGGTC 0.617000 8 47 0 0 1 0 0 DTYMK 1841 broad.mit.edu 37 2 242617876 242617876 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:242617876C>T ENST00000305784.2 - 4 726 c.519G>A c.(517-519)ttG>ttA p.L173L NM_001165031.1|NM_012145.3 NP_001158503.1|NP_036277.2 P23919 KTHY_HUMAN deoxythymidylate kinase (thymidylate kinase) 173 cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion cytosol ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity NS(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) CCTTCCAGTTCAAAGTCGTGT 0.572000 17 139 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182668 140182668 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:140182668G>C ENST00000522353.2 + 1 1886 c.1886G>C c.(1885-1887)gGa>gCa p.G629A PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G629A|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTACACGGGAGAGATCAGC 0.657000 10 96 0 0 1 0 0 KCTD8 386617 broad.mit.edu 37 4 44177257 44177257 + Silent SNP C C T rs141348340 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:44177257C>T ENST00000360029.3 - 2 1255 c.972G>A c.(970-972)caG>caA p.Q324Q NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 324 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 ATACTATTTTCTGAGGTGGTC 0.333000 HNSCC(17;0.042) 4 43 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42005443 42005443 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:42005443G>A ENST00000219905.7 + 9 3360 c.3179G>A c.(3178-3180)aGt>aAt p.S1060N MGA_ENST00000570161.1_Missense_Mutation_p.S1060N|MGA_ENST00000545763.1_Missense_Mutation_p.S1060N|MGA_ENST00000389936.4_Missense_Mutation_p.S1060N|MGA_ENST00000566586.1_Missense_Mutation_p.S1060N NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1060 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTATGTTCCAGTCTAGCTTTG 0.463000 16 136 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113988224 113988224 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:113988224C>T ENST00000297405.5 - 7 1428 c.1184G>A c.(1183-1185)cGa>cAa p.R395Q CSMD3_ENST00000343508.3_Missense_Mutation_p.R355Q|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R395Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 395 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 AACTTGCACTCGCTGTTCCTC 0.502000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 193 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117509829 117509829 + Missense_Mutation SNP C C G rs140095202 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:117509829C>G ENST00000393203.2 + 6 2083 c.1936C>G c.(1936-1938)Cag>Gag p.Q646E PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 646 Ig-like C2-type 5. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GTACCAGACTCAGGTCTCAGA 0.537000 7 103 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124658219 124658219 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:124658219G>C ENST00000325995.7 - 3 1529 c.1506C>G c.(1504-1506)gtC>gtG p.V502V CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 502 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CCGCACATTTGACAAATTTGT 0.522000 9 127 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11353808 11353808 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:11353808G>A ENST00000294618.7 - 13 1418 c.1407C>T c.(1405-1407)gaC>gaT p.D469D NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 469 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 AGAGGTCCTCGTCACTGAGTC 0.647000 OREG0025252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 68 0 0 1 0 0 RAB4B-EGLN2 100529264 broad.mit.edu 37 19 41292772 41292772 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:41292772G>A ENST00000594136.1 + 7 651 c.546G>A c.(544-546)agG>agA p.R182R RAB4B_ENST00000357052.2_Silent_p.R182R|RAB4B_ENST00000594800.1_Silent_p.R182R|RAB4B-EGLN2_ENST00000601949.1_3'UTR ACCCGGAGAGGATGGGCTCTG 0.701000 9 82 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267752 124267752 + Silent SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:124267752T>C ENST00000395571.3 - 3 1052 c.435A>G c.(433-435)gaA>gaG p.E145E ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Silent_p.E145E|ZHX1_ENST00000297857.2_Silent_p.E145E NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 145 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TTATTGTTTGTTCAAAGATTG 0.348000 35 175 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131931469 131931469 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:131931469G>T ENST00000378823.3 + 13 2575 c.1757G>T c.(1756-1758)cGg>cTg p.R586L RAD50_ENST00000265335.6_Missense_Mutation_p.R725L NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 725 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGGAAAAGCGGCGTGATGAA 0.428000 Homologous recombination 13 111 5.50884e-06 5.86889e-06 1 1 0 SMG8 55181 broad.mit.edu 37 17 57288997 57288997 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:57288997G>T ENST00000543872.2 + 2 1849 c.1585G>T c.(1585-1587)Gcc>Tcc p.A529S SMG8_ENST00000578922.1_Missense_Mutation_p.A529S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.A529S|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 529 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GAATCAGCTTGCCCAGGCTCT 0.453000 14 91 2.23348e-06 2.39512e-06 1 1 0 FCER1A 2205 broad.mit.edu 37 1 159272207 159272207 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:159272207T>C ENST00000368115.1 + 2 152 c.53T>C c.(52-54)tTc>tCc p.F18S FCER1A_ENST00000368114.1_Missense_Mutation_p.F18S NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 18 integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) TTACTGTTCTTCGGTAAGTAG 0.502000 21 224 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10364348 10364348 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:10364348G>T ENST00000255381.2 - 12 1142 c.1032C>A c.(1030-1032)ttC>ttA p.F344L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 344 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CATCAGCAGTGAAACCCAGGA 0.488000 13 80 0.00185496 0.00190762 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40745477 40745477 + Missense_Mutation SNP A A C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:40745477A>C ENST00000298910.7 + 44 6576 c.6518A>C c.(6517-6519)cAc>cCc p.H2173P NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2173 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGCTGTGGGCACACCGACAGA 0.398000 4 50 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89729504 89729504 + Missense_Mutation SNP G G C rs141794180 byFrequency TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:89729504G>C ENST00000343435.5 - 9 1813 c.1277C>G c.(1276-1278)tCt>tGt p.S426C GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.S426C NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 426 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TCCTGGCTTAGAATAAATTCC 0.423000 22 231 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130409457 130409457 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:130409457G>A ENST00000356763.3 - 14 3697 c.3140C>T c.(3139-3141)aCg>aTg p.T1047M PIK3R4_ENST00000512677.1_5'UTR NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1047 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GAATGTGAGCGTCTTGACTCG 0.403000 9 67 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48827910 48827910 + Missense_Mutation SNP G G A rs144920769 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:48827910G>A ENST00000505658.1 + 10 1376 c.1187G>A c.(1186-1188)cGa>cAa p.R396Q LUC7L3_ENST00000544170.1_Missense_Mutation_p.R320Q|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R396Q|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R396Q O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 396 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 TCCGGTAGTCGAGAAAAGCAG 0.373000 7 110 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180036954 180036954 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:180036954C>A ENST00000428443.3 - 5 578 c.262G>T c.(262-264)Gtt>Ttt p.V88F SESTD1_ENST00000486468.1_5'UTR NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 88 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TCAGCTGGAACAACATTCTAT 0.313000 15 200 2.48551e-13 2.77491e-13 1 1 0 CYP2A13 1553 broad.mit.edu 37 19 41600977 41600977 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:41600977G>C ENST00000330436.3 + 8 1275 c.1275G>C c.(1273-1275)aaG>aaC p.K425N NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 425 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) AGTTTAAGAAGAGTGATGCTT 0.577000 5 187 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49430357 49430357 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:49430357G>C ENST00000299191.3 + 4 535 c.418G>C c.(418-420)Gac>Cac p.D140H NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 140 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GGATGCAGTCGACCCAGAGTC 0.517000 5 72 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128030455 128030455 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:128030455T>C ENST00000493187.2 - 11 2084 c.1621A>G c.(1621-1623)Atc>Gtc p.I541V ERCC3_ENST00000285398.2_Missense_Mutation_p.I605V P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 605 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GATATGAAGATGGTGTTAATT 0.483000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 92 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23113727 23113727 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:23113727C>A ENST00000219689.7 - 6 1146 c.1147G>T c.(1147-1149)Gac>Tac p.D383Y NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 383 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GTTTCCAGGTCGTCTGTATCA 0.408000 32 122 2.46105e-21 2.8151e-21 1 1 0 ABCD4 5826 broad.mit.edu 37 14 74762564 74762564 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:74762564C>T ENST00000356924.4 - 6 804 c.661G>A c.(661-663)Gat>Aat p.D221N ABCD4_ENST00000298816.7_Missense_Mutation_p.D134N|ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000557554.1_Intron NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 221 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) CACCTAAAATCTCCCTCCAGC 0.488000 9 90 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99693551 99693551 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:99693551G>A ENST00000303887.5 - 11 2086 c.1441C>T c.(1441-1443)Cgc>Tgc p.R481C MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Missense_Mutation_p.R305C NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 481 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) ATGGAGCAGCGGGCATTGAGT 0.632000 10 92 0 0 1 0 0 ILDR2 387597 broad.mit.edu 37 1 166888585 166888585 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:166888585G>C ENST00000469934.2 - 9 1467 c.1254C>G c.(1252-1254)gtC>gtG p.V418V ILDR2_ENST00000528703.1_3'UTR|ILDR2_ENST00000529071.1_3'UTR|ILDR2_ENST00000525740.1_3'UTR|ILDR2_ENST00000529387.1_3'UTR|ILDR2_ENST00000526687.1_3'UTR|ILDR2_ENST00000271417.3_3'UTR Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 0 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GAGAAATGTTGACAACATCAG 0.458000 4 41 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976771 106976771 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:106976771C>G ENST00000369701.3 + 19 2852 c.2625C>G c.(2623-2625)atC>atG p.I875M SORCS3_ENST00000369699.4_Missense_Mutation_p.I161M NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 875 PKD. integral to membrane neuropeptide receptor activity p.I875I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCAGCCCCATCGAGGACGGCA 0.532000 9 91 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122085252 122085252 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:122085252C>G ENST00000454328.1 - 3 256 c.29G>C c.(28-30)aGa>aCa p.R10T TNIP3_ENST00000057513.3_Missense_Mutation_p.R10T|TNIP3_ENST00000507879.1_Missense_Mutation_p.R80T|TNIP3_ENST00000509841.1_Missense_Mutation_p.R87T Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 10 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GGCAATCATTCTAGATGTGCC 0.393000 9 117 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116572398 116572398 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:116572398C>A ENST00000410059.1 + 20 2210 c.1730C>A c.(1729-1731)aCa>aAa p.T577K DPP10_ENST00000393147.2_Missense_Mutation_p.T581K|DPP10_ENST00000409163.1_Missense_Mutation_p.T527K|DPP10_ENST00000310323.8_Missense_Mutation_p.T570K NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 577 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CAGCTGGTTACAGATAAGTTC 0.408000 8 96 0.00448238 0.00456643 1 1 0 PPP2R3A 5523 broad.mit.edu 37 3 135801152 135801152 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:135801152G>A ENST00000264977.3 + 8 3294 c.2677G>A c.(2677-2679)Gat>Aat p.D893N PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D157N|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D272N NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 893 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCAAATTACAGATTACTTCTC 0.353000 29 681 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41143078 41143078 + Silent SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr21:41143078C>A ENST00000380588.4 + 4 757 c.654C>A c.(652-654)acC>acA p.T218T IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 218 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) GCGTGGCTACCTGGAAGAGCC 0.493000 19 76 4.63292e-17 5.22607e-17 1 1 0 XAGE5 170627 broad.mit.edu 37 X 52844131 52844131 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:52844131C>A ENST00000351072.1 + 4 260 c.194C>A c.(193-195)gCt>gAt p.A65D XAGE5_ENST00000375501.1_Missense_Mutation_p.A65D|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000425386.1_Missense_Mutation_p.A65D Q8WWM1 GAGD5_HUMAN X antigen family, member 5 65 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 AACCTGGAAGCTGATCTCCAG 0.438000 14 82 9.31168e-06 9.88797e-06 1 1 0 LINC01317 104355287 broad.mit.edu 37 2 33952349 33952349 + RNA SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:33952349C>T ENST00000366209.2 + 0 68 MYADML_ENST00000474610.1_RNA CAAGGCCAGCCCCAACAGGAA 0.617000 5 15 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13731920 13731920 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:13731920C>T ENST00000383314.2 + 3 644 c.404C>T c.(403-405)cCt>cTt p.P135L RNMT_ENST00000262173.3_Missense_Mutation_p.P135L|RNMT_ENST00000592764.1_Missense_Mutation_p.P135L|RNMT_ENST00000543302.2_Missense_Mutation_p.P135L|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.P135L O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 135 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 GAGGATGTTCCTGAAAAGCAG 0.323000 11 101 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41759572 41759572 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:41759572C>G ENST00000301178.4 + 17 2185 c.1995C>G c.(1993-1995)acC>acG p.T665T AXL_ENST00000359092.3_Silent_p.T656T|AXL_ENST00000593513.1_Silent_p.T397T NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 665 Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ATCTGAGTACCAAGAGATTCA 0.597000 4 51 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288965 216288965 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:216288965A>T ENST00000354785.4 - 8 1489 c.1120T>A c.(1120-1122)Tgc>Agc p.C374S FN1_ENST00000426059.1_Missense_Mutation_p.C374S|FN1_ENST00000336916.4_Missense_Mutation_p.C374S|FN1_ENST00000323926.6_Missense_Mutation_p.C374S|FN1_ENST00000359671.1_Missense_Mutation_p.C374S|FN1_ENST00000446046.1_Missense_Mutation_p.C374S|FN1_ENST00000443816.1_Missense_Mutation_p.C374S|FN1_ENST00000432072.2_Missense_Mutation_p.C374S|FN1_ENST00000421182.1_Missense_Mutation_p.C374S|FN1_ENST00000357867.4_Missense_Mutation_p.C374S|FN1_ENST00000345488.5_Missense_Mutation_p.C374S|FN1_ENST00000357009.2_Missense_Mutation_p.C374S|FN1_ENST00000356005.4_Missense_Mutation_p.C374S|FN1_ENST00000346544.3_Missense_Mutation_p.C374S P02751 FINC_HUMAN fibronectin 1 374 Collagen-binding.|Fibronectin type-II 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTGTGGTGCAGGAGTAGAAC 0.478000 8 125 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48682632 48682632 + Silent SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:48682632A>T ENST00000334136.5 + 28 3685 c.3507A>T c.(3505-3507)ggA>ggT p.G1169G HDAC6_ENST00000444343.2_Silent_p.G1183G|HDAC6_ENST00000376619.2_Silent_p.G1169G Q9UBN7 HDAC6_HUMAN histone deacetylase 6 1169 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GAAATTCTGGACACCCGCTGG 0.582000 10 81 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55714857 55714857 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:55714857C>G ENST00000379668.2 + 1 512 c.474C>G c.(472-474)ctC>ctG p.L158L NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TCCCAGCACTCATGTTGCTTT 0.378000 8 50 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111977804 111977804 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:111977804G>A ENST00000361822.3 + 9 1018 c.889G>A c.(889-891)Gaa>Aaa p.E297K AC004112.4_ENST00000431064.1_RNA NM_021994.2 NP_068834.2 Q9NRM2 ZN277_HUMAN zinc finger protein 277 297 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 TGATTGGGAAGAACACCCTGC 0.388000 7 130 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138742206 138742206 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:138742206T>A ENST00000389532.4 - 6 974 c.910A>T c.(910-912)Acc>Tcc p.T304S CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T315S|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T26S NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 304 CH. cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TCTTCCAAGGTGAGATAAAAA 0.353000 7 129 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47076494 47076494 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:47076494C>T ENST00000290341.3 + 2 533 c.199C>T c.(199-201)Cgc>Tgc p.R67C IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R67C|IGF2BP1_ENST00000515586.1_3'UTR NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 67 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACAAGGAAAACGCTTAGAGAT 0.478000 15 106 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37211198 37211198 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:37211198G>C ENST00000585696.1 + 3 2709 c.1479G>C c.(1477-1479)caG>caC p.Q493H ZNF567_ENST00000360729.4_Missense_Mutation_p.Q493H|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q493H|ZNF567_ENST00000536254.2_Missense_Mutation_p.Q524H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q493H Q8N184 ZN567_HUMAN zinc finger protein 567 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATCTACATCAGAGAATTCATA 0.403000 14 65 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3670730 3670730 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:3670730G>C ENST00000294600.2 + 2 451 c.367G>C c.(367-369)Gaa>Caa p.E123Q NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 123 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GTCCAAAATGGAACTTCGAAG 0.607000 6 216 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105143116 105143116 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:105143116T>A ENST00000369839.3 + 7 1679 c.1656T>A c.(1654-1656)agT>agA p.S552R TAF5_ENST00000351396.4_Missense_Mutation_p.S552R NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 552 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CCAGCTTCAGTCCGGATAGGT 0.343000 11 90 0 0 1 0 0 MEA1 4201 broad.mit.edu 37 6 42980224 42980224 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:42980224G>A ENST00000244711.3 - 4 696 c.542C>T c.(541-543)tCc>tTc p.S181F NM_014623.2 NP_055438.1 Q16626 MEA1_HUMAN male-enhanced antigen 1 181 cell differentiation|male gonad development|spermatogenesis protein binding central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1) 6 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCAGGCAGGGGATGCCTGCCG 0.572000 10 304 0 0 1 0 0 PRKAG1 5571 broad.mit.edu 37 12 49399267 49399267 + Silent SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:49399267A>G ENST00000548065.1 - 4 684 c.228T>C c.(226-228)gaT>gaC p.D76D PRKAG1_ENST00000552212.1_Silent_p.D44D|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Silent_p.D76D|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Silent_p.D25D|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000395170.3_5'UTR|RP11-386G11.5_ENST00000552284.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 76 CBS 1. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 GCTTCTTACTATCCCATAAAG 0.438000 11 82 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64682003 64682003 + Splice_Site SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:64682003G>A ENST00000358025.3 + 107 19563 c.e107-1 SYNE2_ENST00000555002.1_Splice_Site|SYNE2_ENST00000458046.2_Splice_Site|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Intron|SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTCTTTTTCAGATGTAGAAAT 0.423000 36 188 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12337170 12337170 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:12337170A>T ENST00000358136.3 + 19 3655 c.3525A>T c.(3523-3525)ttA>ttT p.L1175F VPS13D_ENST00000356315.4_Missense_Mutation_p.L1175F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1175 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGCTGAACTTACTGCTTCTTC 0.403000 34 130 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135801206 135801206 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:135801206G>C ENST00000264977.3 + 8 3348 c.2731G>C c.(2731-2733)Gat>Cat p.D911H PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.D175H|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.D290H NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 911 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTGGGAACTAGATACTGATCA 0.378000 48 798 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091009 106091009 + RNA SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:106091009C>G ENST00000390543.2 - 0 787 CTGCCCATTGCTCTCCCACTC 0.617000 60 381 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 143516 143516 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:143516G>C ENST00000283426.6 + 3 691 c.641G>C c.(640-642)aGa>aCa p.R214T NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 214 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CGTCATGGCAGAGCAGTGGTG 0.627000 8 107 0 0 1 0 0 ABCD4 5826 broad.mit.edu 37 14 74766887 74766887 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:74766887C>G ENST00000356924.4 - 2 266 c.123G>C c.(121-123)ttG>ttC p.L41F ABCD4_ENST00000298816.7_Intron|ABCD4_ENST00000557588.1_Missense_Mutation_p.L41F|ABCD4_ENST00000557554.1_5'UTR NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 41 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) TCAGGAACATCAAGGCATTTT 0.512000 5 79 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978300 58978300 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:58978300C>T ENST00000361050.3 - 1 2124 c.2039G>A c.(2038-2040)cGg>cAg p.R680Q NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 680 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CTTGAACTTCCGGGTGCCGTA 0.562000 7 121 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18256580 18256580 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:18256580G>C ENST00000262811.5 + 24 2980 c.2980G>C c.(2980-2982)Gag>Cag p.E994Q AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 994 PDZ. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CCCCGCCCAGGAGGCGGGCCT 0.687000 4 23 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14188846 14188846 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:14188846C>G ENST00000403951.2 - 26 2744 c.2325G>C c.(2323-2325)aaG>aaC p.K775N DGKB_ENST00000407950.1_Missense_Mutation_p.K767N|DGKB_ENST00000258767.5_Missense_Mutation_p.K775N|DGKB_ENST00000399322.3_Missense_Mutation_p.K775N|DGKB_ENST00000402815.1_Missense_Mutation_p.K774N|DGKB_ENST00000444700.2_Missense_Mutation_p.K756N Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 775 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GGGCTTGGTTCTTGTGTGTAA 0.413000 24 112 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88478152 88478152 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:88478152C>T ENST00000267549.3 + 2 1519 c.961C>T c.(961-963)Cgc>Tgc p.R321C RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 321 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACAAAGAAAACGCATACTTTC 0.343000 12 65 0 0 1 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159818733 159818733 + RNA SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:159818733C>T ENST00000497452.1 - 0 517 TAGGAGGGAACGAAGTCACCG 0.507000 29 125 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33859650 33859650 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr13:33859650G>A ENST00000336934.5 - 1 242 c.126C>T c.(124-126)agC>agT p.S42S STARD13_ENST00000487412.1_5'UTR NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 42 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTAGAATCCGGCTCATCCTGT 0.493000 5 238 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201531426 201531426 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:201531426T>A ENST00000374700.2 + 32 3801 c.3560T>A c.(3559-3561)aTt>aAt p.I1187N AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1187 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AGAACAGACATTGTCATGGAT 0.383000 15 111 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55873274 55873274 + Silent SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:55873274T>C ENST00000313503.1 + 1 756 c.756T>C c.(754-756)taT>taC p.Y252Y NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) CCATCTTTTATAGCACTCTGA 0.368000 HNSCC(53;0.14) 10 132 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508303 37508303 + Silent SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:37508303T>C ENST00000374660.1 + 40 3951 c.3852T>C c.(3850-3852)ccT>ccC p.P1284P ANKRD30A_ENST00000602533.1_Silent_p.P1165P|ANKRD30A_ENST00000361713.1_Silent_p.P1165P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1221 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTCAAGAACCTGCTTTCCACA 0.388000 11 98 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70881889 70881889 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:70881889G>C ENST00000322773.4 + 41 2704 c.2602G>C c.(2602-2604)Gaa>Caa p.E868Q COL19A1_ENST00000393344.1_Missense_Mutation_p.E490Q NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 868 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GCCAGGATTAGAAGGATTTCC 0.363000 12 84 0 0 1 0 0 ARRDC1 92714 broad.mit.edu 37 9 140509015 140509015 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:140509015C>G ENST00000371421.4 + 7 864 c.800C>G c.(799-801)tCt>tGt p.S267C ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 267 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) GTCCAGGTCTCTCTGAAGGCG 0.627000 4 119 0 0 1 0 0 GRINA 2907 broad.mit.edu 37 8 145065441 145065441 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:145065441C>T ENST00000313269.5 + 2 328 c.50C>T c.(49-51)cCc>cTc p.P17L GRINA_ENST00000395068.4_Missense_Mutation_p.P17L NM_000837.1 NP_000828.1 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 17 Pro-rich. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TATCCTCCCCCCAACCCTGGA 0.632000 9 43 0 0 1 0 0 C5orf46 389336 broad.mit.edu 37 5 147276594 147276594 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:147276594C>G ENST00000318315.4 - 3 226 c.226G>C c.(226-228)Gaa>Caa p.E76Q C5orf46_ENST00000510432.1_Intron NM_206966.2 NP_996849.2 Q6UWT4 CE046_HUMAN chromosome 5 open reading frame 46 76 extracellular region NS(1)|lung(1)|prostate(1) 3 TCATCAAATTCCATAAATCCT 0.323000 7 33 0 0 1 0 0 ALOX12B 242 broad.mit.edu 37 17 7983602 7983602 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:7983602C>T ENST00000399413.3 + 2 523 c.283C>T c.(283-285)Cct>Tct p.P95S ALOX12B_ENST00000319144.4_Silent_p.R235R endometrium(2) 2 TGTCCTTCAGCCTCTTCCACG 0.577000 OREG0024153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 242 0 0 1 0 0 QRFPR 84109 broad.mit.edu 37 4 122251588 122251588 + Nonstop_Mutation SNP A A C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:122251588A>C ENST00000334383.5 - 5 806 c.775T>G c.(775-777)Tga>Gga p.*259G QRFPR_ENST00000394427.2_Missense_Mutation_p.I296M Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 0 VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 CACTGTATTCAATCATCATAT 0.418000 8 28 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107353039 107353039 + Missense_Mutation SNP C C T rs150597240 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:107353039C>T ENST00000265715.3 + 20 2515 c.2291C>T c.(2290-2292)aCg>aTg p.T764M SLC26A4_ENST00000544569.1_Missense_Mutation_p.T351M|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T325M|SLC26A4_ENST00000543100.1_Missense_Mutation_p.T333M NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 764 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 ACAGAGCTGACGGAAGAAGAA 0.323000 Pendred syndrome 4 137 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129781386 129781386 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:129781386G>A ENST00000421865.2 + 49 6958 c.6909G>A c.(6907-6909)atG>atA p.M2303I NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2303 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTGGCTGCATGGGAGAAACAT 0.388000 12 156 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897743 36897743 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:36897743T>A ENST00000429976.2 - 12 3585 c.3338A>T c.(3337-3339)gAg>gTg p.E1113V TRANK1_ENST00000428977.2_Missense_Mutation_p.E563V|TRANK1_ENST00000301807.6_Missense_Mutation_p.E563V O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1113 Glu-rich. DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGCTTCATACTCCTGCTCATC 0.542000 3 23 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628163 71628163 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:71628163G>A ENST00000377276.2 - 1 876 c.846C>T c.(844-846)ttC>ttT p.F282F NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 282 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TGAGGTTTCCGAAGCGCTTGG 0.567000 9 131 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172187154 172187154 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:172187154C>T ENST00000375258.3 - 7 990 c.775G>A c.(775-777)Gat>Aat p.D259N B3KW44 B3KW44_HUMAN methyltransferase like 8 259 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 AAGCCATCATCACATACATCA 0.423000 5 69 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86468859 86468859 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:86468859G>T ENST00000361669.2 + 4 3128 c.2029G>T c.(2029-2031)Gct>Tct p.A677S GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A269S|GRM3_ENST00000536043.1_Missense_Mutation_p.A549S NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 677 synaptic transmission integral to plasma membrane p.A677T(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAAGAATGGCGCTCAGAGGCC 0.547000 14 95 3.27435e-08 3.57003e-08 1 1 0 LILRA3 11026 broad.mit.edu 37 19 54803281 54803281 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:54803281G>A ENST00000391745.1 - 8 763 c.447C>T c.(445-447)agC>agT p.S149S LILRA3_ENST00000391744.3_Silent_p.S132S|LILRA3_ENST00000251390.3_Silent_p.S132S leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACCACAGGGCTGGGCAGAG 0.567000 35 189 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29486926 29486926 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:29486926G>A ENST00000373795.4 - 2 445 c.211C>T c.(211-213)Cgc>Tgc p.R71C SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_Missense_Mutation_p.R71C NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 71 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CGTGGGCCGCGGGCATGCTCA 0.448000 4 110 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. 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) cgccgccgccgccaccgccgc 0.706000 4 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:7579485C>A ENST00000420246.2 - 4 334 c.202G>T c.(202-204)Gag>Tag p.E68* TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 68 Interaction with HRMT1L2.|Interaction with WWOX. E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAGCAGCCTCTGGCATTCTG 0.607000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 204 4.4194e-11 4.88382e-11 1 1 0 MAGEB1 4112 broad.mit.edu 37 X 30269420 30269420 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:30269420C>A ENST00000378981.3 + 4 1131 c.810C>A c.(808-810)ttC>ttA p.F270L MAGEB1_ENST00000397548.2_Missense_Mutation_p.F270L|MAGEB1_ENST00000397550.1_Missense_Mutation_p.F270L NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 270 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 GCTATCAATTCCTATGGGGTC 0.507000 11 135 6.40141e-05 6.73181e-05 1 1 0 MAG 4099 broad.mit.edu 37 19 35801000 35801000 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:35801000C>T ENST00000361922.4 + 8 1605 c.1455C>T c.(1453-1455)cgC>cgT p.R485R MAG_ENST00000537831.2_Silent_p.R460R|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Silent_p.R485R NM_080600.2 NP_542167.1 P20916 MAG_HUMAN myelin associated glycoprotein 485 Ig-like C2-type 4. blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2) 34 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCCGCCCCGCGTCATCTGCA 0.697000 24 74 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92970836 92970836 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:92970836C>G ENST00000544910.1 + 24 2286 c.2066C>G c.(2065-2067)tCt>tGt p.S689C CCDC132_ENST00000305866.5_Missense_Mutation_p.S719C|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.S530C|CCDC132_ENST00000535481.1_Missense_Mutation_p.S439C NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 719 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GTTTTGACATCTGGGGATACG 0.453000 11 101 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160604531 160604531 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:160604531G>T ENST00000302035.6 - 3 921 c.572C>A c.(571-573)tCc>tAc p.S191Y SLAMF1_ENST00000355199.3_Missense_Mutation_p.S191Y|SLAMF1_ENST00000235739.5_Missense_Mutation_p.S191Y|SLAMF1_ENST00000538290.1_Missense_Mutation_p.S191Y NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 191 Ig-like C2-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAGGAGGTGGGAGCTGTTGGC 0.587000 16 73 4.7546e-09 5.21886e-09 1 1 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 87 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156175302 156175302 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:156175302G>A ENST00000302490.8 + 4 1235 c.364G>A c.(364-366)Gaa>Aaa p.E122K KCNAB1_ENST00000389634.5_Missense_Mutation_p.E122K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E140K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.E140K|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E129K NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 140 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGATACTGCCGAAGTCTATGC 0.473000 20 236 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135020263 135020263 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:135020263G>T ENST00000304613.3 + 18 3483 c.3462G>T c.(3460-3462)caG>caT p.Q1154H KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1156H|KNDC1_ENST00000368571.2_Missense_Mutation_p.Q1089H Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1154 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AACTCTTACAGAAGGAAAAGA 0.572000 13 130 3.27435e-08 3.57003e-08 1 1 0 TERT 7015 broad.mit.edu 37 5 1264629 1264629 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:1264629G>A ENST00000310581.5 - 11 2790 c.2733C>T c.(2731-2733)gaC>gaT p.D911D TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 911 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCAGGGCCTCGTCTTCTACAG 0.622000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 10 112 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994243 91994243 + Silent SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:91994243G>T ENST00000450295.1 - 16 2741 c.1965C>A c.(1963-1965)gcC>gcA p.A655A SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A655A|SEMA4D_ENST00000438547.2_Silent_p.A655A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.A655A|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 655 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 ACAAGGTGGGGGCCACTACGG 0.562000 61 228 1.24741e-17 1.41691e-17 1 1 0 MYOZ2 51778 broad.mit.edu 37 4 120079303 120079303 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:120079303C>G ENST00000307128.5 + 4 586 c.373C>G c.(373-375)Cca>Gca p.P125A NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 125 protein phosphatase 2B binding p.P125S(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CAACATTGCTCCAGGTAACCA 0.433000 4 102 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96484146 96484146 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:96484146G>C ENST00000285979.6 + 7 1204 c.1005G>C c.(1003-1005)cgG>cgC p.R335R CYP2C18_ENST00000339022.5_Silent_p.R276R|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GCAGAAACCGGAGCCCCTGTA 0.483000 5 150 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908111 164908111 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:164908111G>A ENST00000475390.1 - 2 951 c.508C>T c.(508-510)Cgg>Tgg p.R170W SLITRK3_ENST00000241274.3_Missense_Mutation_p.R170W O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 170 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CTTAGGTTCCGAAATGCCCCA 0.388000 HNSCC(40;0.11) 15 153 0 0 1 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289592 98289592 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:98289592G>C ENST00000322128.3 - 1 584 c.481C>G c.(481-483)Cag>Gag p.Q161E NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 161 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) GCTATGACCTGAGGCCCCCTC 0.642000 18 98 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48417605 48417605 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:48417605C>G ENST00000376771.4 + 5 917 c.576C>G c.(574-576)gtC>gtG p.V192V TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000427713.1_3'UTR NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 192 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GGGAAGATGTCAAGCCCTTCA 0.587000 7 38 0 0 1 0 0 PHAX 51808 broad.mit.edu 37 5 125939445 125939445 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:125939445C>G ENST00000297540.4 + 2 975 c.280C>G c.(280-282)Cca>Gca p.P94A PHAX_ENST00000514725.1_3'UTR NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 94 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 TCCTCCCAAACCAGAGCCTTT 0.433000 13 131 0 0 1 0 0 HNRNPLL 92906 broad.mit.edu 37 2 38795410 38795410 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:38795410C>T ENST00000449105.2 - 12 1843 c.1504G>A c.(1504-1506)Gaa>Aaa p.E502K HNRNPLL_ENST00000409636.1_Missense_Mutation_p.E497K|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.E468K|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.E468K NM_138394.3 NP_612403.2 heterogeneous nuclear ribonucleoprotein L-like CACTCCCATTCTAATAGCCCA 0.358000 4 163 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75157033 75157033 + RNA SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:75157033C>A ENST00000418756.1 - 0 420 NR_028059.1 lung(1) 1 GGGGCCCGGGCCGGGCCTACG 0.721000 7 8 8.12818e-05 8.46578e-05 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91651660 91651660 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:91651660G>A ENST00000359028.2 + 14 4207 c.3982G>A c.(3982-3984)Gac>Aac p.D1328N AKAP9_ENST00000358100.2_Missense_Mutation_p.D1328N|AKAP9_ENST00000356239.3_Missense_Mutation_p.D1316N Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1328 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAATTTGGAAGACATTGGTAA 0.328000 T BRAF papillary thyroid 23 67 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196748421 196748421 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:196748421C>T ENST00000471440.2 + 2 262 c.188C>T c.(187-189)tCa>tTa p.S63L CFHR3_ENST00000391985.3_Missense_Mutation_p.S63L|CFHR3_ENST00000367425.4_Missense_Mutation_p.S63L complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 GAGACTCCTTCAGGAAGTTAC 0.393000 5 66 0 0 1 0 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861360 27861360 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:27861360C>G ENST00000303806.4 + 1 158 c.120C>G c.(118-120)atC>atG p.I40M NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 40 nucleosome assembly nucleosome|nucleus DNA binding p.I40M(1) GTTACTCTATCTACGTGTACA 0.542000 6 207 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37366600 37366600 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:37366600G>A ENST00000361924.2 + 14 3597 c.3223G>A c.(3223-3225)Gaa>Aaa p.E1075K GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1097K|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1075 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding p.E1075K(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGAGGTAGCAGAACTGAAACA 0.363000 5 41 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868948 97868948 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:97868948C>A ENST00000437310.1 + 1 779 c.719C>A c.(718-720)aCc>aAc p.T240N NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCCTTCTCCACCTGTGGAGCT 0.413000 30 80 1.88708e-17 2.13607e-17 1 1 0 PLCH1 23007 broad.mit.edu 37 3 155199085 155199085 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:155199085C>G ENST00000460012.1 - 23 4997 c.4640G>C c.(4639-4641)aGa>aCa p.R1547T PLCH1_ENST00000340059.7_Missense_Mutation_p.R1585T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1547T|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1547T|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1585 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ATTGCGCACTCTGCTCTGACT 0.498000 15 165 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89618015 89618015 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:89618015C>T ENST00000294671.2 - 5 699 c.561G>A c.(559-561)ctG>ctA p.L187L NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 187 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CATCTAACTTCAGCTCCAGGG 0.468000 5 122 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371596 55371596 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:55371596G>C ENST00000302231.4 - 1 278 c.254C>G c.(253-255)tCt>tGt p.S85C NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TTTCTTTTCAGAGAGAGCATC 0.388000 5 157 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212560269 212560269 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:212560269C>G ENST00000261455.4 - 3 444 c.307G>C c.(307-309)Gtg>Ctg p.V103L TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Missense_Mutation_p.V164L NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 103 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TTGTAAGACACAGACATGACA 0.552000 6 244 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138202346 138202346 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:138202346G>A ENST00000237289.4 + 9 2329 c.2263G>A c.(2263-2265)Gaa>Aaa p.E755K NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 755 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GCCTGCCCCCGAAGACCCCCC 0.622000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 29 158 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56309881 56309881 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:56309881T>C ENST00000528616.2 - 1 876 c.853A>G c.(853-855)Aat>Gat p.N285D NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 ATCAATGGATTAAGTACCGGA 0.393000 10 53 0 0 1 0 0 MTHFD2 10797 broad.mit.edu 37 2 74441282 74441282 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:74441282G>A ENST00000394053.2 + 8 1046 c.966G>A c.(964-966)aaG>aaA p.K322K MTHFD2_ENST00000264090.4_Silent_p.K220K|MTHFD2_ENST00000409804.1_Silent_p.K194K|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000394050.3_Silent_p.K158K|MTHFD2_ENST00000409601.1_Silent_p.K239K NM_006636.3 NP_006627.2 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 322 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGCTAATGAAGAATACCATTA 0.458000 4 142 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64973960 64973960 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:64973960G>C ENST00000527323.1 + 12 1620 c.1380G>C c.(1378-1380)ttG>ttC p.L460F CAPN1_ENST00000279247.6_Missense_Mutation_p.L460F|CAPN1_ENST00000533129.1_Missense_Mutation_p.L460F|CAPN1_ENST00000524773.1_Missense_Mutation_p.L460F|CAPN1_ENST00000533820.1_Missense_Mutation_p.L460F P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 460 Domain III. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) CCGTACACTTGAAGCGTGACT 0.682000 8 106 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676741 123676741 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:123676741C>G ENST00000309154.2 - 1 354 c.317G>C c.(316-318)gGg>gCg p.G106A NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) CTCCACCGTCCCCAGAAAGAA 0.493000 6 44 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75435766 75435766 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:75435766C>T ENST00000297784.5 + 20 2312 c.1772C>T c.(1771-1773)tCc>tTc p.S591F TMC1_ENST00000396237.3_Missense_Mutation_p.S591F|TMC1_ENST00000340019.3_Missense_Mutation_p.S591F|TMC1_ENST00000486417.1_3'UTR NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 591 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 AGGATGGGCTCCTTCTTTGCT 0.463000 4 96 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781855 128781855 + Silent SNP C C T rs149327599 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:128781855C>T ENST00000529694.1 + 2 1063 c.687C>T c.(685-687)atC>atT p.I229I KCNJ5_ENST00000338350.4_Silent_p.I229I|KCNJ5_ENST00000533599.1_Silent_p.I229I NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 229 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.I229I(1) NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) ACTCCCACATCGTGGAGGCCT 0.592000 9 68 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26793680 26793680 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr13:26793680C>G ENST00000381588.4 - 3 859 c.107G>C c.(106-108)aGa>aCa p.R36T RNF6_ENST00000381570.3_Missense_Mutation_p.R36T|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.R36T|RNF6_ENST00000399762.2_5'UTR NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 36 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) GGCCTCTTCTCTGTGGAGACG 0.418000 21 132 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090406 238090406 + RNA SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:238090406G>C ENST00000450451.1 + 0 1912 NR_027247.2 CTTCTACAATGAGCTGTGCGT 0.567000 9 65 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966190 41966190 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:41966190G>T ENST00000298919.7 + 10 1217 c.829G>T c.(829-831)Ggc>Tgc p.G277C PDZRN4_ENST00000539469.2_Missense_Mutation_p.G279C|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G537C Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 537 PDZ 1. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGAAGAAGAAGGCACAACAGA 0.368000 10 51 3.07112e-06 3.28257e-06 1 1 0 GPR37 2861 broad.mit.edu 37 7 124404637 124404637 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:124404637C>T ENST00000303921.2 - 1 1044 c.394G>A c.(394-396)Gaa>Aaa p.E132K NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 132 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCCAAAGTTTCAGAAGGCTCC 0.662000 18 136 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119566 3119566 + Missense_Mutation SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:3119566A>G ENST00000304094.1 + 1 652 c.652A>G c.(652-654)Att>Gtt p.I218V NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTCTCCTATATTCGAGTCTT 0.473000 35 225 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3789616 3789616 + Nonsense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:3789616G>A ENST00000262367.5 - 25 5052 c.4243C>T c.(4243-4245)Caa>Taa p.Q1415* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1377* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1415 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CCGTATTCTTGGACGTGCATT 0.493000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 6 65 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7268167 7268167 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:7268167G>C ENST00000217961.4 + 10 1837 c.1617G>C c.(1615-1617)caG>caC p.Q539H NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 539 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GACACACCCAGACCCTGCCAG 0.542000 Ichthyosis 5 93 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72993579 72993579 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:72993579C>T ENST00000268489.5 - 2 1138 c.466G>A c.(466-468)Gcc>Acc p.A156T ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 156 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) CTCCCACAGGCGCCCCCGCCC 0.677000 8 53 0 0 1 0 0 ERCC1 2067 broad.mit.edu 37 19 45920135 45920135 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:45920135G>C ENST00000300853.3 - 6 1137 c.546C>G c.(544-546)ctC>ctG p.L182L ERCC1_ENST00000340192.7_Silent_p.L182L|ERCC1_ENST00000423698.2_Silent_p.L110L|ERCC1_ENST00000589165.1_Silent_p.L182L|ERCC1_ENST00000591636.1_Silent_p.L182L|ERCC1_ENST00000013807.5_Silent_p.L182L NM_001983.3 NP_001974.1 P07992 ERCC1_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) 182 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) CCAGCTCCTTGAGGGCCTGCT 0.527000 Nucleotide excision repair (NER) 6 20 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51449368 51449368 + Splice_Site SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:51449368G>A ENST00000522124.1 + 11 1341 c.680_splice c.e11+1 p.R227_splice SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 227 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GATTTGAGTCGGTGAGTCCGT 0.438000 10 209 0 0 1 0 0 TIGD2 166815 broad.mit.edu 37 4 90034627 90034627 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:90034627C>G ENST00000317005.2 + 1 660 c.502C>G c.(502-504)Cta>Gta p.L168V NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 168 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) aaaagagaatctacaaccaga 0.373000 5 89 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135801125 135801125 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:135801125G>A ENST00000264977.3 + 8 3267 c.2650G>A c.(2650-2652)Gaa>Aaa p.E884K PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E148K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E263K NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 884 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTTTTGGAAGAAGAGGAAGA 0.333000 23 614 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26513478 26513478 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:26513478G>A ENST00000376261.3 + 6 1125 c.622G>A c.(622-624)Gaa>Aaa p.E208K GAD2_ENST00000376248.1_Missense_Mutation_p.E94K|GAD2_ENST00000259271.3_Missense_Mutation_p.E208K NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 208 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GTTCACCTATGAAATTGCTCC 0.373000 5 66 0 0 1 0 0 LOC101927755 101927755 broad.mit.edu 37 17 58066651 58066651 + RNA SNP C C T rs144367363 by1000genomes TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:58066651C>T ENST00000586209.1 + 0 158 ACTGGTAAAGCTGTTTAAGAG 0.333000 3 15 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766519 88766519 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:88766519G>A ENST00000497649.2 + 6 805 c.427G>A c.(427-429)Gaa>Aaa p.E143K MEPE_ENST00000395102.4_Missense_Mutation_p.E198K|MEPE_ENST00000424957.3_Missense_Mutation_p.E167K|MEPE_ENST00000361056.3_Missense_Mutation_p.E167K|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Missense_Mutation_p.E54K|MEPE_ENST00000560249.1_Missense_Mutation_p.E54K Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 167 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) CCTGGGGGAAGAAAACAAAGA 0.408000 15 97 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108635040 108635040 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:108635040G>T ENST00000261047.3 - 3 508 c.376C>A c.(376-378)Cag>Aag p.Q126K GUCA1C_ENST00000393963.3_Missense_Mutation_p.Q126K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.Q126K NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 126 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 AGAGTTTGCTGGCCATTGAGG 0.408000 16 177 0.000422831 0.000437597 1 1 0 VPS13A 23230 broad.mit.edu 37 9 79954477 79954477 + Nonsense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:79954477C>T ENST00000360280.3 + 48 6684 c.6424C>T c.(6424-6426)Cag>Tag p.Q2142* VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q2103*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q2142*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q2142* NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2142 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACATTCAGCCCAGATTTGTAC 0.308000 3 9 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156873781 156873781 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:156873781C>T ENST00000338302.3 + 3 288 c.63C>T c.(61-63)ctC>ctT p.L21L PEAR1_ENST00000292357.7_Silent_p.L21L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 21 integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGAACTCTCAACCCCAGTG 0.622000 5 108 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53525264 53525264 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:53525264A>T ENST00000357758.3 - 9 2106 c.1923T>A c.(1921-1923)agT>agA p.S641R DDHD1_ENST00000395606.1_Missense_Mutation_p.S648R|DDHD1_ENST00000323669.5_Missense_Mutation_p.S641R NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 641 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) TATGGTCTTGACTTCCAGTAT 0.393000 29 133 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82335048 82335048 + Missense_Mutation SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:82335048T>C ENST00000376520.4 + 17 2602 c.1774T>C c.(1774-1776)Tgg>Cgg p.W592R TLE4_ENST00000376544.3_Missense_Mutation_p.W491R|TLE4_ENST00000376552.2_Missense_Mutation_p.W560R|TLE4_ENST00000265284.6_Missense_Mutation_p.W535R|TLE4_ENST00000376537.4_Missense_Mutation_p.W592R|TLE4_ENST00000376534.4_Missense_Mutation_p.W197R O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TTTGTCCATTTGGGACCTGGC 0.567000 32 55 0 0 1 0 0 SPAG6 9576 broad.mit.edu 37 10 22653828 22653828 + Silent SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:22653828A>T ENST00000376603.2 + 3 538 c.396A>T c.(394-396)acA>acT p.T132T SPAG6_ENST00000376601.1_Silent_p.T56T|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Silent_p.T56T|SPAG6_ENST00000313311.6_Silent_p.T56T|SPAG6_ENST00000538630.1_Silent_p.T31T O75602 SPAG6_HUMAN sperm associated antigen 6 56 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 TGGTCCCAACAATTCAACAGA 0.393000 12 92 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175473145 175473145 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:175473145G>T ENST00000454872.1 + 13 2256 c.2128G>T c.(2128-2130)Gac>Tac p.D710Y NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 710 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GATGCTGAATGACATTCTCCA 0.468000 4 43 0.150653 0.150653 1 1 0 CDH23 64072 broad.mit.edu 37 10 73569667 73569667 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr10:73569667C>A ENST00000224721.6 + 60 8833 c.8828C>A c.(8827-8829)gCa>gAa p.A2943E CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.A698E NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2938 Cadherin 27. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CGAGACCTGGCAGGCCACAAC 0.612000 26 139 2.12542e-12 2.3648e-12 1 1 0 CSMD3 114788 broad.mit.edu 37 8 114326972 114326972 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:114326972C>G ENST00000297405.5 - 2 473 c.229G>C c.(229-231)Gaa>Caa p.E77Q CSMD3_ENST00000343508.3_Missense_Mutation_p.E37Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.E77Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.E77Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 77 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCAGGGCTTTCTATAGTGCCA 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 42 362 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2315829 2315829 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:2315829C>G ENST00000381458.5 + 11 1773 c.1710C>G c.(1708-1710)atC>atG p.I570M NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 570 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ACAACATGATCCGGATCACAG 0.557000 18 149 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39284137 39284137 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:39284137G>T ENST00000373229.5 - 5 756 c.743C>A c.(742-744)gCg>gAg p.A248E KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.A248E|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron NM_032115.3 NP_115491.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 248 integral to membrane potassium channel activity|voltage-gated ion channel activity p.A248V(1) large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 GAGGATCAGCGCCAGCCACGC 0.642000 4 14 1.024e-07 1.11275e-07 1 1 0 APOB 338 broad.mit.edu 37 2 21234141 21234141 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:21234141G>A ENST00000233242.1 - 26 5726 c.5599C>T c.(5599-5601)Cgg>Tgg p.R1867W NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1867 R -> G (in Ref. 4; AAB04636). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGTTGAGCCGATGGCTAAAC 0.438000 7 133 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309791 24309791 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:24309791C>T ENST00000357002.4 + 4 1104 c.989C>T c.(988-990)gCa>gTa p.A330V ZNF254_ENST00000342944.6_Missense_Mutation_p.A245V NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 330 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TGTGGCAAAGCATTTATATGG 0.403000 11 73 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657309 72657309 + RNA SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:72657309C>T ENST00000425256.1 - 0 2602 NR_002164.1 catcgcgttgcgatgtggagt 0.463000 5 279 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58652657 58652657 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:58652657C>G ENST00000405755.2 - 1 144 c.16G>C c.(16-18)Gat>Cat p.D6H PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron NM_001197219.1 NP_001184148.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CCCAGAGGATCCCAAACAAAA 0.532000 5 32 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50512578 50512578 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:50512578G>A ENST00000599538.1 - 4 868 c.204C>T c.(202-204)acC>acT p.T68T VRK3_ENST00000377011.2_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594948.1_Silent_p.T68T|VRK3_ENST00000593919.1_Silent_p.T68T|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Silent_p.T68T|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000594092.1_Silent_p.T68T Q8IV63 VRK3_HUMAN vaccinia related kinase 3 68 nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GAGAGGTGACGGTGCTGGACC 0.463000 5 231 0 0 1 0 0 CCS 9973 broad.mit.edu 37 11 66366595 66366595 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:66366595G>C ENST00000533244.1 + 3 562 c.121G>C c.(121-123)Gat>Cat p.D41H CCS_ENST00000310190.4_Missense_Mutation_p.D22H NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 41 HMA. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 AGGTGTCCAGGATGTGGAGGT 0.597000 6 74 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166339 21166339 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:21166339G>A ENST00000380225.1 - 1 320 c.273C>T c.(271-273)ttC>ttT p.F91F NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 91 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCTTTGTGCTGAAGAGATTGA 0.488000 23 183 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179834 65179834 + Missense_Mutation SNP A A C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:65179834A>C ENST00000310045.7 - 2 3515 c.2042T>G c.(2041-2043)aTg>aGg p.M681R CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 671 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TGTGGGTTCCATCTGAAAAGT 0.388000 28 62 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228120747 228120747 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:228120747A>T ENST00000396578.3 + 16 1056 c.894A>T c.(892-894)aaA>aaT p.K298N AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 298 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGTAGGGAAAACCCGGAAAAG 0.383000 7 54 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56571873 56571873 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:56571873G>C ENST00000394023.3 - 15 1420 c.1315C>G c.(1315-1317)Cat>Gat p.H439D SMARCC2_ENST00000550164.1_Missense_Mutation_p.H439D|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.H439D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.H439D NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 439 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCAATGGCATGAACACTGCAA 0.488000 6 48 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151927091 151927091 + Missense_Mutation SNP T T G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:151927091T>G ENST00000355193.2 - 18 3111 c.2893A>C c.(2893-2895)Agt>Cgt p.S965R KMT2C_ENST00000262189.6_Missense_Mutation_p.S965R lysine (K)-specific methyltransferase 2C TGGCCAAAACTGCCACAAACT 0.348000 17 533 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527470 23527470 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:23527470G>A ENST00000296682.3 + 11 2455 c.2273G>A c.(2272-2274)cGc>cAc p.R758H NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 758 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R758H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CGGGGCTTTCGCGATAAGTCA 0.572000 HNSCC(3;0.000094) 19 100 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4044245 4044245 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:4044245G>C ENST00000337659.6 + 6 1949 c.1849G>C c.(1849-1851)Gaa>Caa p.E617Q PRPF4B_ENST00000538861.1_Missense_Mutation_p.E603Q NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 617 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) AATGACAGTTGAACAGAATAA 0.403000 13 71 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113266510 113266510 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:113266510C>A ENST00000297405.5 - 63 10326 c.10082G>T c.(10081-10083)gGa>gTa p.G3361V CSMD3_ENST00000343508.3_Missense_Mutation_p.G3321V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3192V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3291V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3361 Sushi 27. 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 GTTCTGAGATCCATGCCGAGG 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 246 8.12818e-05 8.46578e-05 1 1 0 GBP5 115362 broad.mit.edu 37 1 89729475 89729475 + Nonsense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:89729475G>A ENST00000343435.5 - 9 1842 c.1306C>T c.(1306-1308)Cag>Tag p.Q436* GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Nonsense_Mutation_p.Q436* NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 436 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TCTGTTTTCTGAATGAAGAGA 0.433000 28 208 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170068605 170068605 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:170068605G>C ENST00000263816.3 - 37 6438 c.6153C>G c.(6151-6153)ctC>ctG p.L2051L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2051 EGF-like 8. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TATCAGGATTGAGTTTAAATC 0.448000 15 160 0 0 1 0 0 YPEL1 29799 broad.mit.edu 37 22 22057760 22057760 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr22:22057760C>T ENST00000339468.3 - 4 552 c.169G>A c.(169-171)Gtg>Atg p.V57M NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 57 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) CCGCAGCCCACGTTCACCCTG 0.687000 4 90 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135801131 135801131 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:135801131G>A ENST00000264977.3 + 8 3273 c.2656G>A c.(2656-2658)Gaa>Aaa p.E886K PPP2R3A_ENST00000492624.2_3'UTR|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E150K|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E265K NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 886 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGAAGAAGAGGAAGATATAAA 0.338000 24 627 0 0 1 0 0 RSPH3 83861 broad.mit.edu 37 6 159403538 159403538 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:159403538C>G ENST00000367069.2 - 5 1311 c.675G>C c.(673-675)gaG>gaC p.E225D RSPH3_ENST00000449822.1_Missense_Mutation_p.E129D|RSPH3_ENST00000297262.3_Missense_Mutation_p.E271D|RSPH3_ENST00000252655.1_Missense_Mutation_p.E367D Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 367 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GGTGTCGCCTCTCTTGCTCTT 0.398000 4 116 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86201737 86201737 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:86201737G>C ENST00000257770.3 + 8 1452 c.1403G>C c.(1402-1404)aGa>aCa p.R468T NT5E_ENST00000369651.3_Missense_Mutation_p.R418T NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 468 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CCTGGAGACAGAGTAGTCAAA 0.423000 27 243 0 0 1 0 0 KCNMB3 27094 broad.mit.edu 37 3 178968832 178968832 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:178968832C>T ENST00000314235.5 - 1 571 c.60G>A c.(58-60)acG>acA p.T20T KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000392685.2_5'UTR|KCNMB3_ENST00000349697.2_Intron NM_014407.3 NP_055222.3 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 20 detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) ACCTGTGTCTCGTGAGCAGGA 0.418000 13 179 0 0 1 0 0 ZNF736 728927 broad.mit.edu 37 7 63808903 63808903 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:63808903G>A ENST00000355095.4 + 5 984 c.662G>A c.(661-663)aGa>aAa p.R221K ZNF736_ENST00000423484.1_Missense_Mutation_p.R221K NM_001170905.1 NP_001164376.1 B4DX44 ZN736_HUMAN zinc finger protein 736 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 GAACATAAGAGAGTTCATACT 0.358000 3 11 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032682 55032682 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:55032682G>T ENST00000417545.2 + 2 437 c.351G>T c.(349-351)aaG>aaT p.K117N NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 101 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACAAAGAAGATGTTCTGTG 0.532000 9 92 0.00621372 0.00629091 1 1 0 RTTN 25914 broad.mit.edu 37 18 67727260 67727260 + Nonsense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:67727260G>T ENST00000255674.6 - 36 5052 c.4766C>A c.(4765-4767)tCa>tAa p.S1589* RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1589 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TGGCCGTGGTGATGTACTTTC 0.378000 4 46 1.23904e-05 1.30721e-05 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81589082 81589082 + Silent SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:81589082C>G ENST00000356860.3 - 37 3368 c.3030G>C c.(3028-3030)ggG>ggC p.G1010G CACNA2D1_ENST00000535308.1_Silent_p.G222G|CACNA2D1_ENST00000356253.5_Silent_p.G1022G NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1022 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATGGACATGTCCCTTTGCTCT 0.373000 15 59 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41496213 41496213 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr21:41496213G>C ENST00000400454.1 - 20 4082 c.3605C>G c.(3604-3606)gCc>gGc p.A1202G NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1202 Fibronectin type-III 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GACCATGGAGGCTGAGGCCGC 0.587000 20 136 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11071202 11071202 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:11071202G>A ENST00000409790.1 + 8 1079 c.849G>A c.(847-849)ctG>ctA p.L283L CLEC16A_ENST00000409552.3_Silent_p.L281L NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 283 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CTGACCACCTGCTCAACAGGC 0.557000 4 57 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45451889 45451889 + Nonsense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:45451889C>G ENST00000331493.2 + 12 1340 c.929C>G c.(928-930)tCa>tGa p.S310* EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.S214* NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 AGAAAGTTATCAAGTGTAGCA 0.284000 12 125 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2587842 2587842 + Missense_Mutation SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:2587842A>G ENST00000261597.4 + 8 865 c.683A>G c.(682-684)tAc>tGc p.Y228C NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 228 Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 TTTTTGGACTACACCATAAAA 0.358000 37 141 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152083709 152083709 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:152083709C>T ENST00000368804.1 - 2 1983 c.1984G>A c.(1984-1986)Gag>Aag p.E662K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 662 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTCCTCCTCGCGCTTCAGC 0.667000 7 146 0 0 1 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16843026 16843026 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:16843026C>T ENST00000437538.2 - 4 587 c.579G>A c.(577-579)gcG>gcA p.A193A TNFRSF13B_ENST00000261652.2_Silent_p.A239A|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Silent_p.A193A O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 239 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity p.A239A(1) endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 CCTGCGTGGGCGCCCTGCACT 0.672000 IgA Deficiency, Selective 6 26 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17746841 17746841 + Missense_Mutation SNP T T G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:17746841T>G ENST00000380060.3 + 7 4570 c.4232T>G c.(4231-4233)tTc>tGc p.F1411C NHS_ENST00000398097.3_Missense_Mutation_p.F1255C NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1411 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GAGGGTGTGTTCGTGTCTCCA 0.413000 18 135 0 0 1 0 0 XRN2 22803 broad.mit.edu 37 20 21367541 21367541 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:21367541G>A ENST00000377191.3 + 29 2779 c.2684G>A c.(2683-2685)cGg>cAg p.R895Q XRN2_ENST00000539513.1_Missense_Mutation_p.R841Q|XRN2_ENST00000430571.2_Missense_Mutation_p.R819Q NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 895 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 CCATGGAACCGGATGCTGCAA 0.527000 29 121 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210857444 210857444 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:210857444C>G ENST00000367007.4 - 11 2237 c.2068G>C c.(2068-2070)Gag>Cag p.E690Q KCNH1_ENST00000271751.4_Missense_Mutation_p.E717Q NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 717 Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CGTTCTTCCTCTTCACGTTTC 0.562000 4 98 0 0 1 0 0 EPHA6 285220 broad.mit.edu 37 3 97167436 97167436 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr3:97167436T>A ENST00000389672.5 + 7 1794 c.1756T>A c.(1756-1758)Tcc>Acc p.S586T EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 491 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GACCTACTCTTCCACAAGGTC 0.443000 9 111 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322163 55322163 + Silent SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:55322163A>T ENST00000314644.2 + 1 381 c.381A>T c.(379-381)tcA>tcT p.S127S NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CGTGCTTCTCATCTGTCATCA 0.458000 HNSCC(20;0.049) 45 199 0 0 1 0 0 EMC2 9694 broad.mit.edu 37 8 109482328 109482328 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr8:109482328G>A ENST00000220853.3 + 7 522 c.487G>A c.(487-489)Gaa>Aaa p.E163K EMC2_ENST00000520294.1_3'UTR NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 TGAACTTGCAGAACTTTACAT 0.353000 7 79 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39854292 39854292 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:39854292G>A ENST00000564288.1 + 58 16555 c.15778G>A c.(15778-15780)Gaa>Aaa p.E5260K MACF1_ENST00000567887.1_Missense_Mutation_p.E5297K|MACF1_ENST00000372915.3_Missense_Mutation_p.E5265K|MACF1_ENST00000289893.4_Missense_Mutation_p.E3700K|MACF1_ENST00000317713.7_Missense_Mutation_p.E3198K|MACF1_ENST00000539005.1_Missense_Mutation_p.E3177K|MACF1_ENST00000545844.1_Missense_Mutation_p.E3198K|MACF1_ENST00000361689.2_Missense_Mutation_p.E3198K Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5265 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTGGGGACCGAAGTGGAAAT 0.428000 11 146 0 0 1 0 0 SERINC5 256987 broad.mit.edu 37 5 79441913 79441913 + Splice_Site SNP T T C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:79441913T>C ENST00000507668.2 - 11 1388 c.1238_splice c.e11+1 p.N413_splice SERINC5_ENST00000512972.2_Splice_Site_p.K413_splice|SERINC5_ENST00000512721.1_Splice_Site_p.N413_splice|SERINC5_ENST00000509193.1_Splice_Site_p.K411_splice NM_001174071.1|NM_178276.5 NP_001167542.1|NP_840060.1 Q86VE9 SERC5_HUMAN serine incorporator 5 413 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane endometrium(3)|kidney(1)|lung(3)|ovary(1) 8 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GGCCACTCACTTGAACCAGTT 0.428000 6 78 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344884 53344884 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:53344884G>A ENST00000595646.1 - 4 783 c.663C>T c.(661-663)ttC>ttT p.F221F ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.F168F|ZNF468_ENST00000396409.4_Silent_p.F168F|ZNF468_ENST00000243639.4_3'UTR Q5VIY5 ZN468_HUMAN zinc finger protein 468 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TAAAGGATTTGAAGCTCTGTA 0.313000 26 99 0 0 1 0 0 NUSAP1 51203 broad.mit.edu 37 15 41641367 41641367 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:41641367G>A ENST00000260359.6 + 3 498 c.234G>A c.(232-234)gaG>gaA p.E78E NUSAP1_ENST00000560747.1_Silent_p.E78E|NUSAP1_ENST00000450318.1_Silent_p.E78E|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Silent_p.E78E|NUSAP1_ENST00000450592.2_Silent_p.E55E|NUSAP1_ENST00000559596.1_Silent_p.E78E|NUSAP1_ENST00000560177.1_Silent_p.E78E NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7 NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 78 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 13 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) AAGAAGCTGAGAGACAGCCAC 0.438000 6 34 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84234053 84234053 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:84234053C>T ENST00000536636.1 + 3 1238 c.893C>T c.(892-894)aCg>aTg p.T298M PRSS35_ENST00000369700.3_Missense_Mutation_p.T298M NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 298 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) ATCAGCCCAACGATCAAGAAA 0.483000 35 65 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190886 42190886 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:42190886G>C ENST00000006724.3 - 2 532 c.331C>G c.(331-333)Cag>Gag p.Q111E CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000602225.1_Missense_Mutation_p.Q111E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.Q111E NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 111 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GTGACGTTCTGGATCAGCAGG 0.413000 5 303 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47602086 47602086 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:47602086G>A ENST00000371917.4 + 16 2212 c.2212G>A c.(2212-2214)Gaa>Aaa p.E738K NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 738 SEC7. exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CCTACCTGGAGAAGCCCAAAA 0.478000 7 83 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351154 40351154 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr4:40351154C>T ENST00000310169.2 + 4 760 c.621C>T c.(619-621)ggC>ggT p.G207G NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 207 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) AGGTCCATGGCATGCCCGCTG 0.512000 32 271 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72012910 72012910 + Silent SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:72012910G>C ENST00000294053.3 - 12 1529 c.1356C>G c.(1354-1356)ctC>ctG p.L452L CLPB_ENST00000340729.5_Silent_p.L393L|CLPB_ENST00000543042.1_Silent_p.L251L|CLPB_ENST00000538039.1_Silent_p.L422L|CLPB_ENST00000538021.1_Silent_p.L60L|CLPB_ENST00000437826.2_Silent_p.L407L NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 452 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CTTCATCAAAGAGCACCACAG 0.562000 5 143 0 0 1 0 0 RNF6 6049 broad.mit.edu 37 13 26788500 26788500 + Nonsense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr13:26788500G>A ENST00000381588.4 - 5 2271 c.1519C>T c.(1519-1521)Caa>Taa p.Q507* RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q507*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q151* NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 507 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CCATTTCTTTGAAGTTCTGAC 0.463000 5 92 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24567822 24567822 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr22:24567822C>T ENST00000398319.2 + 34 6284 c.5899C>T c.(5899-5901)Cgc>Tgc p.R1967C CABIN1_ENST00000405822.2_Missense_Mutation_p.R1888C|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.R392C|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1967C NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1967 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.R1967C(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CACCAAGCCTCGCCCTGCACT 0.627000 10 79 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33444555 33444555 + Missense_Mutation SNP C C A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:33444555C>A ENST00000305768.4 - 4 546 c.458G>T c.(457-459)aGt>aTt p.S153I CEP89_ENST00000590597.1_Missense_Mutation_p.S153I NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 153 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CAGGTCATCACTGTGGCCTCC 0.488000 9 591 1.2644e-06 1.36038e-06 1 1 0 APC 324 broad.mit.edu 37 5 112103071 112103071 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:112103071G>A ENST00000457016.1 + 4 786 c.406G>A c.(406-408)Gaa>Aaa p.E136K APC_ENST00000508376.2_Missense_Mutation_p.E136K|APC_ENST00000257430.4_Missense_Mutation_p.E136K P25054 APC_HUMAN adenomatous polyposis coli 136 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E136K(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATATTTAGAAGAACTTGAGAA 0.338000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 10 70 0 0 1 0 0 KRIT1 889 broad.mit.edu 37 7 91852190 91852190 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:91852190G>C ENST00000394507.1 - 14 2140 c.1357C>G c.(1357-1359)Ctc>Gtc p.L453V KRIT1_ENST00000394503.2_Missense_Mutation_p.L405V|KRIT1_ENST00000412043.2_Missense_Mutation_p.L453V|KRIT1_ENST00000340022.2_Missense_Mutation_p.L453V|KRIT1_ENST00000394505.2_Missense_Mutation_p.L453V NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 453 FERM. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCTTGAGAGAGACGCATTCCT 0.333000 9 79 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134144 91134144 + Missense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chrX:91134144G>C ENST00000373094.1 + 2 3750 c.2905G>C c.(2905-2907)Gat>Cat p.D969H PCDH11X_ENST00000373088.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D969H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D969H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D969H NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 969 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACTGCCTCTCGATAACACCTT 0.512000 18 250 0 0 1 0 0 ZNF765 91661 broad.mit.edu 37 19 53912379 53912379 + Nonstop_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:53912379A>T ENST00000396408.3 + 4 1688 c.1571A>T c.(1570-1572)tAa>tTa p.*524L ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) CTACACGTGTAATGAGTGTGG 0.378000 5 51 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235377235 235377235 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr1:235377235C>G ENST00000264183.3 - 17 2187 c.1690G>C c.(1690-1692)Gag>Cag p.E564Q ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Missense_Mutation_p.E564Q NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 564 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCAAACTCCTCTTCCTCATTG 0.403000 5 231 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580732 37580732 + Missense_Mutation SNP C C G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:37580732C>G ENST00000217429.4 + 4 1458 c.1417C>G c.(1417-1419)Cag>Gag p.Q473E NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 443 Ser-rich. cell division|mitosis cytoplasm|spindle pole p.Q473*(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) GACCACTACTCAGACTGACAT 0.468000 7 123 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576576 33576576 + Missense_Mutation SNP A A T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:33576576A>T ENST00000504830.1 - 19 3890 c.3555T>A c.(3553-3555)aaT>aaA p.N1185K ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N1100K NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1185 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTGGAGCGTCATTTCCAGGTA 0.488000 HNSCC(64;0.19) 39 143 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130575 71130575 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:71130575G>A ENST00000333538.5 + 7 1894 c.1260G>A c.(1258-1260)ccG>ccA p.P420P WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 420 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.P420P(2) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGAACCTGCCGCTGGAGGTAG 0.478000 10 51 0 0 1 0 0 CLPX 10845 broad.mit.edu 37 15 65456381 65456381 + Nonsense_Mutation SNP G G C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:65456381G>C ENST00000300107.3 - 5 847 c.659C>G c.(658-660)tCa>tGa p.S220* NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 220 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 TGGTGTTAATGATGTCTGCTT 0.333000 20 173 0 0 1 0 0 SLC7A6 9057 broad.mit.edu 37 16 68328673 68328673 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr16:68328673G>A ENST00000566454.1 + 9 1357 c.1088G>A c.(1087-1089)cGt>cAt p.R363H SLC7A6_ENST00000219343.6_Missense_Mutation_p.R363H NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 363 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CACATTGAGCGTTTTACACCT 0.507000 15 169 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13751222 13751222 + Nonsense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:13751222G>A ENST00000265104.4 - 65 11280 c.11176C>T c.(11176-11178)Cag>Tag p.Q3726* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3726 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCAGTAACTGATCTTCTAGA 0.453000 Kartagener syndrome 10 102 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51828991 51828991 + Silent SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:51828991G>A ENST00000251076.5 - 12 1973 c.1686C>T c.(1684-1686)atC>atT p.I562I DMXL2_ENST00000449909.3_Silent_p.I562I|DMXL2_ENST00000543779.2_Silent_p.I562I NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 562 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CATACATCATGATATTTTTAC 0.418000 14 71 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65181440 65181440 + Missense_Mutation SNP G G T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr18:65181440G>T ENST00000310045.7 - 2 1909 c.436C>A c.(436-438)Cca>Aca p.P146T NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 136 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TTGTCTTCTGGGCATAACAAA 0.423000 20 74 6.33239e-15 7.11848e-15 1 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58189695 58189695 + Missense_Mutation SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:58189695A>G ENST00000318203.5 + 5 1421 c.724A>G c.(724-726)Aac>Gac p.N242D NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 242 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAACCCATACAACTCAAAAAG 0.448000 16 73 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102552130 102552130 + Missense_Mutation SNP G G A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr14:102552130G>A ENST00000334701.7 - 4 1141 c.860C>T c.(859-861)tCa>tTa p.S287L HSP90AA1_ENST00000441629.2_Intron|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S165L NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 165 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCCCCCTGCTGAGGACTCCCA 0.502000 14 92 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58467456 58467456 + Silent SNP A A G TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr20:58467456A>G ENST00000357552.3 - 24 2178 c.1953T>C c.(1951-1953)acT>acC p.T651T SYCP2_ENST00000371001.2_Silent_p.T651T Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 651 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATTTTTGTTTAGTAAGTTTTT 0.229000 10 45 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24593382 24593382 + Missense_Mutation SNP T T A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr5:24593382T>A ENST00000264463.4 - 2 725 c.218A>T c.(217-219)cAg>cTg p.Q73L RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 73 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCCTACGTACTGATAATCAGA 0.348000 HNSCC(23;0.051) 16 127 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15514430 15514430 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:15514430C>T ENST00000397410.4 - 4 282 c.218G>A c.(217-219)aGc>aAc p.S73N AKAP8L_ENST00000595465.1_Intron|AKAP8L_ENST00000595136.1_Intron NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 73 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGTGTCAGAGCTAGGCATTTC 0.512000 9 57 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51806687 51806687 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr15:51806687C>T ENST00000251076.5 - 15 2883 c.2596G>A c.(2596-2598)Gaa>Aaa p.E866K DMXL2_ENST00000449909.3_Missense_Mutation_p.E866K|DMXL2_ENST00000543779.2_Missense_Mutation_p.E866K NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 866 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCCATATCTTCCTTATGTGGT 0.303000 12 79 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 117962953 117962953 + Silent SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr12:117962953C>T ENST00000425217.1 - 14 1890 c.1836G>A c.(1834-1836)tcG>tcA p.S612S KSR2_ENST00000302438.5_Silent_p.S338S|KSR2_ENST00000339824.5_Silent_p.S641S|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 641 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCTCCGGGCCGAGAGGAGGG 0.582000 10 49 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87746076 87746076 + Missense_Mutation SNP A A C TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:87746076A>C ENST00000398204.4 + 7 877 c.554A>C c.(553-555)cAt>cCt p.H185P ADAM22_ENST00000439864.1_Missense_Mutation_p.H185P|ADAM22_ENST00000398201.4_Missense_Mutation_p.H185P|ADAM22_ENST00000265727.7_Missense_Mutation_p.H185P|ADAM22_ENST00000398209.3_Missense_Mutation_p.H185P|ADAM22_ENST00000315984.7_Missense_Mutation_p.H185P NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 185 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTCCATTTTCATTCAGTTTAC 0.363000 9 55 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168104863 168104864 + Frame_Shift_Ins INS - - A TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr2:168104863_168104864insA ENST00000409195.1 + 9 7050_7051 c.6961_6962insA c.(6961-6963)aaafs p.K2321fs XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.K2099fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.K2321fs|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2146 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGTTTCCTGAAAAAAATGGG 0.465 17 152 --- --- --- --- GRIK2 2898 broad.mit.edu 37 6 102503435 102503436 + Frame_Shift_Ins INS - - T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr6:102503435_102503436insT ENST00000369138.1 + 15 3032_3033 c.2542_2543insT c.(2542-2544)aaafs p.K848fs GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.K799fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 848 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CAAATCCAAAAAAAACGCTCAA 0.342 19 168 --- --- --- --- RP11-340I6.7 0 broad.mit.edu 37 7 63351248 63351250 + RNA DEL GAG GAG - TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr7:63351248_63351250delGAG ENST00000587736.1 - 0 688 GAGATGGGGAGAGGAGGAGGAGG 0.581 2 4 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797539 117797539 + Frame_Shift_Del DEL G G - rs148674204 byFrequency TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr9:117797539delG ENST00000350763.4 - 22 6142 c.5731delC c.(5731-5733)ggfs p.R1911fs TNC_ENST00000535648.1_Frame_Shift_Del_p.R1456fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.R1638fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.R1274fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.R1548fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.R1729fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.R1274fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.R1547fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.R1365fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. 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 ACTGATGCCCGGGGGGGTCGC 0.478 7 205 --- --- --- --- TCIRG1 10312 broad.mit.edu 37 11 67811329 67811329 + Frame_Shift_Del DEL C C - TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr11:67811329delC ENST00000265686.3 + 8 870 c.762delC c.(760-762)ctfs p.L254fs TCIRG1_ENST00000532635.1_Frame_Shift_Del_p.L38fs NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 254 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 AGGCCCGCCTCGGGGCCCTGC 0.692 2 4 --- --- --- --- BORA 79866 broad.mit.edu 37 13 73320117 73320117 + Frame_Shift_Del DEL A A - TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr13:73320117delA ENST00000390667.5 + 9 871 c.774delA c.(772-774)gcfs p.A258fs BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 258 Ser-rich. cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding AGGCTAGTGCAAAAAAATACA 0.383 8 1162 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 6 12 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41018683 41018683 + Frame_Shift_Del DEL A A - TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b9ec516b-fce6-4383-9748-08b48a37185b e400b9af-1374-4f6d-b82e-ae17e336c9f2 g.chr19:41018683delA ENST00000352632.3 + 14 2073 c.1987delA c.(1987-1989)agfs p.K663fs SPTBN4_ENST00000344104.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000598249.1_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000338932.3_Frame_Shift_Del_p.K663fs|SPTBN4_ENST00000595535.1_Frame_Shift_Del_p.K663fs Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 663 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCGCGCGACAAGGAGCGTCT 0.771 2 4 --- --- --- ---