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 COG8 84342 broad.mit.edu 37 16 69369095 69369095 + Missense_Mutation SNP G G A rs138362078 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:69369095G>A ENST00000306875.4 - 3 856 c.742C>T c.(742-744)Ctt>Ttt p.L248F RP11-343C2.9_ENST00000563634.1_Missense_Mutation_p.L123F|COG8_ENST00000562081.1_Missense_Mutation_p.L248F NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 248 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 CGGGCCTGAAGAAACTTCACC 0.542000 6 46 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50287704 50287704 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:50287704G>A ENST00000338821.5 - 12 1394 c.1130C>T c.(1129-1131)aCg>aTg p.T377M ATP9A_ENST00000311637.5_Missense_Mutation_p.T241M|ATP9A_ENST00000402822.1_Missense_Mutation_p.T256M NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 377 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTCAGGAATCGTGCTGGAGCG 0.557000 9 51 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155295191 155295191 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:155295191G>T ENST00000368352.5 + 5 1769 c.1618G>T c.(1618-1620)Gcg>Tcg p.A540S RUSC1_ENST00000368347.4_Missense_Mutation_p.A130S|RUSC1_ENST00000368349.4_Missense_Mutation_p.A71S|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Missense_Mutation_p.A540S|RUSC1_ENST00000292254.4_Missense_Mutation_p.A71S NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 540 RUN. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CGCCCTGGTGGCGGACGGGCT 0.701000 OREG0013860 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 16 1.06961e-07 1.28501e-07 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60344525 60344525 + RNA SNP G G A rs72488592 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:60344525G>A ENST00000581291.1 - 0 979 breast(2)|kidney(1)|lung(2) 5 TTTTGTTATCGGCATGAACGC 0.607000 9 216 0 0 1 0 0 MTMR1 8776 broad.mit.edu 37 X 149919242 149919242 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:149919242C>T ENST00000445323.2 + 14 1728 c.1607C>T c.(1606-1608)aCa>aTa p.T536I MTMR1_ENST00000544228.1_Missense_Mutation_p.T528I|MTMR1_ENST00000370390.3_Missense_Mutation_p.T528I|MTMR1_ENST00000538506.1_Missense_Mutation_p.T353I|MTMR1_ENST00000541925.1_Missense_Mutation_p.T434I|MTMR1_ENST00000451863.2_Missense_Mutation_p.T528I Q13613 MTMR1_HUMAN myotubularin related protein 1 528 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TTCTTGATTACAATTTTGGAT 0.353000 46 86 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36852029 36852029 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:36852029G>T ENST00000279024.4 - 9 2450 c.2179C>A c.(2179-2181)Cct>Act p.P727T NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 727 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GCAAGGAAAGGGTCCAGCTTC 0.617000 4 36 0.00909568 0.00930907 1 1 0 PRDM11 56981 broad.mit.edu 37 11 45204498 45204498 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:45204498G>T ENST00000263765.4 + 5 661 c.412G>T c.(412-414)Ggc>Tgc p.G138C PRDM11_ENST00000424263.2_Missense_Mutation_p.G104C|PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.G138C Q9NQV5 PRD11_HUMAN PR domain containing 11 138 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GGTGCCCGTGGGCATCCCAGA 0.602000 28 44 2.36697e-06 2.70401e-06 1 1 0 BTBD7 55727 broad.mit.edu 37 14 93717918 93717918 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:93717918C>A ENST00000334746.5 - 8 2140 c.1833G>T c.(1831-1833)acG>acT p.T611T BTBD7_ENST00000393170.2_Silent_p.T185T|BTBD7_ENST00000554565.1_Silent_p.T260T NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 611 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CCATGTAGAGCGTGTCTGGCA 0.478000 64 172 4.46356e-37 8.60653e-37 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34102010 34102010 + Missense_Mutation SNP A A C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:34102010A>C ENST00000373381.4 - 30 5095 c.4919T>G c.(4918-4920)cTg>cGg p.L1640R CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.L513R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1600 CUB 10. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATCAGGCCCCAGGATGCAGCT 0.652000 5 33 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6357394 6357394 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:6357394G>T ENST00000344683.5 + 12 2234 c.2158G>T c.(2158-2160)Ggt>Tgt p.G720C ANGPT2_ENST00000325203.5_3'UTR|ANGPT2_ENST00000415216.1_3'UTR NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 720 BRCT 2. microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) TTTAGAATTGGGTCACTGGAT 0.423000 32 78 1.08052e-11 1.49052e-11 1 1 0 NID2 22795 broad.mit.edu 37 14 52496397 52496397 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:52496397G>T ENST00000216286.5 - 10 2268 c.2269C>A c.(2269-2271)Ccc>Acc p.P757T NID2_ENST00000541773.1_Missense_Mutation_p.P704T NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 757 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCCGGAGTGGGGTCTGAATCC 0.512000 4 41 0.150653 0.15174 1 1 0 MLLT10 8028 broad.mit.edu 37 10 21962689 21962689 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:21962689G>T ENST00000377072.3 + 11 1810 c.1462G>T c.(1462-1464)Gag>Tag p.E488* MLLT10_ENST00000307729.7_Nonsense_Mutation_p.E488*|MLLT10_ENST00000446906.2_Nonsense_Mutation_p.E488*|MLLT10_ENST00000377059.3_Nonsense_Mutation_p.E488* NM_004641.3 NP_004632.1 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 488 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CAAAAATCAAGAGAATGTTTC 0.403000 T """MLL, PICALM, CDK6""" AL 17 102 0.00074312 0.000785906 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84234113 84234113 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:84234113A>T ENST00000536636.1 + 3 1298 c.953A>T c.(952-954)gAt>gTt p.D318V PRSS35_ENST00000369700.3_Missense_Mutation_p.D318V NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 318 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) GATAGGGCTGATCAGTTGGTC 0.473000 44 56 0 0 1 0 0 KIAA1984 84960 broad.mit.edu 37 9 139702136 139702136 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:139702136G>T ENST00000338005.6 + 14 1634 c.1599G>T c.(1597-1599)aaG>aaT p.K533N KIAA1984-AS1_ENST00000414656.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 533 Poly-Lys. biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) AGAAAAAGAAGAAGTAGCCCC 0.617000 5 13 3.59834e-05 3.94912e-05 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113363405 113363405 + Splice_Site SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:113363405T>A ENST00000297405.5 - 40 6568 c.6325_splice c.e40+1 p.L2108_splice CSMD3_ENST00000352409.3_Splice_Site_p.L2038_splice|CSMD3_ENST00000455883.2_Splice_Site_p.L2004_splice|CSMD3_ENST00000343508.3_Splice_Site_p.L2068_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2108 Sushi 11. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTAACTTACCTAAACAAATTG 0.308000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 91 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100912146 100912146 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:100912146G>T ENST00000328766.5 - 5 882 c.429C>A c.(427-429)ccC>ccA p.P143P ARMCX2_ENST00000356824.4_Silent_p.P143P|ARMCX2_ENST00000330154.2_Silent_p.P143P NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 143 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CTGTCACCCCGGGAGGTGGTG 0.642000 11 89 4.68919e-08 5.72212e-08 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103063530 103063530 + Splice_Site SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:103063530T>A ENST00000264260.2 + 10 1662 c.1072_splice c.e10-1 p.V358_splice IL18RAP_ENST00000409369.1_Splice_Site_p.V216_splice NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 358 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GTCTCCACAGTGGTGCTCCTG 0.602000 75 190 0 0 1 0 0 NIM1K 167359 broad.mit.edu 37 5 43280236 43280236 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:43280236C>A ENST00000512796.1 + 4 2215 c.716C>A c.(715-717)cCt>cAt p.P239H NIM1_ENST00000326035.2_Missense_Mutation_p.P239H Q8IY84 NIM1_HUMAN 239 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity TACGCTGCGCCTGAACTCTTC 0.502000 34 100 2.75727e-19 4.46537e-19 1 1 0 DACH2 117154 broad.mit.edu 37 X 85994885 85994885 + Splice_Site SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:85994885G>A ENST00000373131.1 + 6 1364 c.1201_splice c.e6+1 p.E401_splice DACH2_ENST00000508860.1_Splice_Site_p.E247_splice|DACH2_ENST00000373125.4_Splice_Site_p.E414_splice|DACH2_ENST00000510272.1_Splice_Site_p.E195_splice|DACH2_ENST00000477378.2_3'UTR NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GGAAAGAATGGGTGAGTAACT 0.448000 5 20 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7706913 7706913 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:7706913G>A ENST00000338316.4 + 8 1255 c.1166G>A c.(1165-1167)gGg>gAg p.G389E ADCY2_ENST00000537121.1_Missense_Mutation_p.G209E NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 389 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GTGCATTCTGGGAATGTCCTG 0.498000 49 153 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70514333 70514333 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:70514333G>T ENST00000377844.4 - 4 1612 c.853C>A c.(853-855)Ctt>Att p.L285I KLHL1_ENST00000545028.1_Missense_Mutation_p.L92I NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 285 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GCAGCAAGAAGGTTCTCAATG 0.393000 9 18 1.12685e-05 1.26454e-05 1 1 0 COL6A3 1293 broad.mit.edu 37 2 238277615 238277615 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:238277615G>T ENST00000295550.4 - 10 4943 c.4491C>A c.(4489-4491)gcC>gcA p.A1497A COL6A3_ENST00000347401.3_Silent_p.A1296A|COL6A3_ENST00000353578.4_Silent_p.A1291A|COL6A3_ENST00000409809.1_Silent_p.A1291A|COL6A3_ENST00000472056.1_Silent_p.A890A|COL6A3_ENST00000346358.4_Silent_p.A1297A NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1497 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCAGCACCGGGGCCTGGGATC 0.537000 16 57 1.5739e-10 2.10456e-10 1 1 0 NYAP1 222950 broad.mit.edu 37 7 100085919 100085919 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:100085919C>T ENST00000423930.1 + 4 734 c.575C>T c.(574-576)cCt>cTt p.P192L NYAP1_ENST00000454988.1_Missense_Mutation_p.P135L|NYAP1_ENST00000300179.2_Missense_Mutation_p.P192L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 192 GGGAACCTGCCTCTTCAGCGC 0.632000 15 215 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42855203 42855203 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:42855203G>A ENST00000200557.6 + 23 2211 c.2042G>A c.(2041-2043)gGg>gAg p.G681E ADAM11_ENST00000535346.1_Missense_Mutation_p.G481E NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 681 EGF-like. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) CCCGGCAGTGGGGAGCGCCGG 0.642000 17 41 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984330 85984330 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:85984330G>A ENST00000372113.4 - 2 656 c.651C>T c.(649-651)tcC>tcT p.S217S LRIT2_ENST00000538192.1_Silent_p.S217S NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 217 LRRCT. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GGAGGGTAATGGACTTGACAA 0.542000 14 51 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241667486 241667486 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:241667486C>A ENST00000366560.3 - 7 1002 c.964G>T c.(964-966)Gtt>Ttt p.V322F NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 322 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) CTGAGCTCAACCAGAGCGTCA 0.448000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 13 70 7.03913e-09 8.93329e-09 1 1 0 PHEX 5251 broad.mit.edu 37 X 22065263 22065263 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:22065263C>A ENST00000379374.4 + 3 848 c.283C>A c.(283-285)Ccc>Acc p.P95T PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.P95T NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 95 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TAATCCAATTCCCGAAGATAT 0.413000 24 92 1.22574e-08 1.54156e-08 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 26 0.004672 0.00483836 1 1 0 SLC22A10 387775 broad.mit.edu 37 11 63072194 63072194 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:63072194G>A ENST00000332793.6 + 9 1433 c.1431G>A c.(1429-1431)agG>agA p.R477R SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 477 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGGCTAGTAGGATTGGAGCAG 0.383000 57 152 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961846 34961846 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:34961846C>G ENST00000329357.5 + 1 934 c.898C>G c.(898-900)Cct>Gct p.P300A NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 300 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCGGAGCCTCCTGAGACTGG 0.632000 73 88 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44160431 44160431 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:44160431C>G ENST00000372396.3 + 18 2670 c.2536C>G c.(2536-2538)Cag>Gag p.Q846E NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 846 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 CTGCTGTGTGCAGTGTTCTCA 0.547000 28 95 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52883687 52883687 + Missense_Mutation SNP T T G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:52883687T>G ENST00000343457.3 - 1 99 c.93A>C c.(91-93)ttA>ttC p.L31F NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 31 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CAGAATTGAATAAAATATTGC 0.333000 5 38 0 0 1 0 0 RNASE11 122651 broad.mit.edu 37 14 21058502 21058502 + Translation_Start_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:21058502C>A ENST00000335950.4 - 0 194 RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|RNASE12_ENST00000556526.1_Missense_Mutation_p.E127D|RP11-14J7.6_ENST00000554529.1_RNA|AL163195.3_ENST00000555283.1_RNA NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GAACAAACCCCTCTGTGGGGG 0.453000 28 66 1.39806e-14 2.10765e-14 1 1 0 ZNF607 84775 broad.mit.edu 37 19 38198824 38198824 + Missense_Mutation SNP C C T rs144365488 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:38198824C>T ENST00000355202.4 - 4 821 c.226G>A c.(226-228)Gag>Aag p.E76K ZNF607_ENST00000395835.3_Missense_Mutation_p.E75K|CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.E76K NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 76 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CCTGTACACTCTCCTCTTGTT 0.443000 38 73 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520882 33520882 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:33520882G>T ENST00000297307.5 - 1 530 c.445C>A c.(445-447)Ctt>Att p.L149I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 149 DUF6 1. integral to membrane TGGCTCTCAAGGCAGAGAGTG 0.582000 79 144 5.04879e-28 9.29829e-28 1 1 0 AQP7 364 broad.mit.edu 37 9 33387000 33387000 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:33387000T>A ENST00000539936.1 - 4 473 c.235A>T c.(235-237)Acc>Tcc p.T79S AQP7_ENST00000537089.1_Intron|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.T22S O14520 AQP7_HUMAN aquaporin 7 79 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) ACTCCCATGGTGACTCCGAAG 0.572000 15 182 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265425 75265425 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:75265425G>T ENST00000325680.7 + 5 3549 c.3425G>T c.(3424-3426)aGg>aTg p.R1142M YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.R947M NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 947 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCTGGGAGCAGGGAGAGAGGA 0.587000 7 37 0.00307968 0.00322281 1 1 0 TCN1 6947 broad.mit.edu 37 11 59623394 59623394 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:59623394C>A ENST00000257264.3 - 6 989 c.885G>T c.(883-885)atG>atT p.M295I TCN1_ENST00000532419.1_Intron NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 295 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGTCTTTCCCATCAGGGCAG 0.453000 40 104 9.85521e-28 1.80077e-27 1 1 0 SELP 6403 broad.mit.edu 37 1 169566383 169566383 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:169566383C>G ENST00000263686.6 - 11 1774 c.1737G>C c.(1735-1737)gaG>gaC p.E579D SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.E517D|SELP_ENST00000367794.2_Missense_Mutation_p.E517D|SELP_ENST00000367786.2_Missense_Mutation_p.E517D|SELP_ENST00000367793.2_Missense_Mutation_p.E517D|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 579 Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GGCTGCCCTGCTCTGGGGCAA 0.463000 16 59 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179501219 179501219 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:179501219G>T ENST00000589042.1 - 225 41459 c.41235C>A c.(41233-41235)atC>atA p.I13745I TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.I4872I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.I12104I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.I4680I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I11177I|TTN_ENST00000359218.5_Silent_p.I4805I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12104 Ig-like 93. 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) GAACATCAATGATGTGCAGCT 0.423000 22 82 3.62473e-10 4.74683e-10 1 1 0 IGHV4-28 28400 broad.mit.edu 37 14 106780678 106780678 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:106780678C>A ENST00000390612.2 - 0 257 CCAGTCCCTTCCCTGGGGGCT 0.562000 17 44 3.41278e-10 4.47767e-10 1 1 0 NCOR1P1 149934 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 4 47 0 0 1 0 0 CPB1 1360 broad.mit.edu 37 3 148558729 148558729 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:148558729C>T ENST00000491148.1 + 6 775 c.441C>T c.(439-441)acC>acT p.T147T CPB1_ENST00000282957.4_Silent_p.T147T P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 147 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTATCGGAACCACATTTGAGG 0.428000 14 162 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481977 140481977 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140481977C>G ENST00000231130.2 + 1 1744 c.1744C>G c.(1744-1746)Ccg>Gcg p.P582A NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 582 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.P582S(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGGCTGAGCCGGGCTACCT 0.701000 62 72 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211518812 211518812 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:211518812G>T ENST00000233072.5 + 29 3740 c.3544G>T c.(3544-3546)Ggc>Tgc p.G1182C CPS1_ENST00000451903.2_Missense_Mutation_p.G731C|CPS1_ENST00000430249.2_Missense_Mutation_p.G1188C NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1182 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGACGCTGTTGGCAAAGATGG 0.418000 22 66 6.36457e-07 7.42888e-07 1 1 0 ZNF609 23060 broad.mit.edu 37 15 64966812 64966812 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:64966812G>T ENST00000326648.3 + 4 1887 c.1759G>T c.(1759-1761)Ggc>Tgc p.G587C ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 587 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGCACAAAAGGCCTCTGTAA 0.507000 22 54 3.5997e-14 5.39182e-14 1 1 0 HAS2 3037 broad.mit.edu 37 8 122626662 122626662 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:122626662G>T ENST00000303924.4 - 4 1883 c.1346C>A c.(1345-1347)cCc>cAc p.P449H NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 449 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CATCTTGGCGGGAAGTAAACT 0.408000 72 225 4.98926e-31 9.33647e-31 1 1 0 PAPD5 64282 broad.mit.edu 37 16 50250031 50250031 + Silent SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:50250031C>G ENST00000357464.3 + 5 573 c.573C>G c.(571-573)ctC>ctG p.L191L PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Silent_p.L270L|PAPD5_ENST00000561678.1_Silent_p.L203L Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 191 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(1)|lung(2) 4 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) ACCTACCCCTCTGGACTCTGG 0.428000 25 121 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149585024 149585024 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:149585024C>A ENST00000230671.2 + 13 1910 c.1539C>A c.(1537-1539)ctC>ctA p.L513L SLC6A7_ENST00000524041.1_Silent_p.L513L NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 513 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TGCAGGCCCTCATGGTGTATA 0.607000 35 38 1.62957e-23 2.82945e-23 1 1 0 COL3A1 1281 broad.mit.edu 37 2 189871714 189871714 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:189871714C>A ENST00000304636.3 + 44 3423 c.3253C>A c.(3253-3255)Cct>Act p.P1085T COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1085 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCGAGGTGCTCCTGTAAgttt 0.398000 13 44 1.5842e-08 1.98523e-08 1 1 0 RXFP1 59350 broad.mit.edu 37 4 159533320 159533320 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:159533320G>T ENST00000307765.5 + 7 826 c.575G>T c.(574-576)gGt>gTt p.G192V RXFP1_ENST00000470033.1_Missense_Mutation_p.G159V|RXFP1_ENST00000460056.2_Missense_Mutation_p.G111V|RXFP1_ENST00000448688.2_Missense_Mutation_p.G111V|RXFP1_ENST00000343542.5_Missense_Mutation_p.G192V NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 192 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CTGAAGCCGGGTGTTTTTGAA 0.299000 44 136 2.29192e-23 3.9598e-23 1 1 0 TTN 7273 broad.mit.edu 37 2 179451278 179451278 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:179451278A>T ENST00000589042.1 - 308 64574 c.64350T>A c.(64348-64350)agT>agA p.S21450R TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12577R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19809R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S12385R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S18882R|TTN_ENST00000359218.5_Missense_Mutation_p.S12510R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19809 Fibronectin type-III 55. 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) CTCTTGGCAAACTGACTCCAA 0.393000 31 85 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63445164 63445164 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:63445164G>A ENST00000453546.1 - 10 1581 c.1492C>T c.(1492-1494)Cgt>Tgt p.R498C ASB12_ENST00000362002.2_Missense_Mutation_p.R123C|ASB12_ENST00000396130.2_Missense_Mutation_p.R114C Q96EF0 MTMR8_HUMAN myotubularin related protein 8 314 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AAAAGCACACGTACACAGTCC 0.537000 11 34 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1206124 1206124 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:1206124G>A ENST00000382952.3 - 10 1578 c.1194C>T c.(1192-1194)caC>caT p.H398H CTBP1_ENST00000290921.6_Silent_p.H409H NM_001012614.1 NP_001012632.1 Q13363 CTBP1_HUMAN C-terminal binding protein 1 409 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGGGCAGGCCGTGGGACAGGG 0.697000 3 11 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120475461 120475461 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:120475461C>T ENST00000355622.6 + 3 1156 c.1055C>T c.(1054-1056)tCt>tTt p.S352F TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S312F NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 352 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AAACTCAAATCTCTCAAAAGG 0.353000 23 63 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26707466 26707466 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:26707466C>A ENST00000272371.2 - 12 1207 c.1081G>T c.(1081-1083)Gac>Tac p.D361Y OTOF_ENST00000403946.3_Missense_Mutation_p.D361Y NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 361 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCATCGGGGTCAGACAGGATG 0.602000 10 20 4.68919e-08 5.72212e-08 1 1 0 LRP1 4035 broad.mit.edu 37 12 57578153 57578153 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:57578153G>A ENST00000243077.3 + 38 6570 c.6104G>A c.(6103-6105)cGg>cAg p.R2035Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2035 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGTATTGAGCGGTCTCGGCTA 0.607000 9 65 0 0 1 0 0 COLCA1 399948 broad.mit.edu 37 11 111166916 111166916 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:111166916C>A ENST00000532918.1 - 2 2693 c.288G>T c.(286-288)ctG>ctT p.L96L C11orf92_ENST00000540738.1_Silent_p.L96L|C11orf92_ENST00000355430.4_Silent_p.L96L endometrium(1)|large_intestine(1)|lung(1) 3 AATCGCTAGCCAGCAACAGCA 0.468000 26 87 9.57634e-11 1.2904e-10 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107821201 107821201 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:107821201G>T ENST00000328300.6 + 11 873 c.629G>T c.(628-630)gGa>gTa p.G210V COL4A5_ENST00000361603.2_Missense_Mutation_p.G210V NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 210 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGTCCACCAGGACTTCCAGGA 0.308000 Alport syndrome with Diffuse Leiomyomatosis 16 49 3.32936e-07 3.9057e-07 1 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107459732 107459732 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:107459732G>A ENST00000409382.3 - 2 1312 c.702C>T c.(700-702)caC>caT p.H234H ST6GAL2_ENST00000361686.4_Silent_p.H234H|ST6GAL2_ENST00000409087.3_Silent_p.H234H NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 234 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AGCGCACCCCGTGCTTGTTGG 0.682000 6 9 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225706586 225706586 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:225706586C>A ENST00000409592.3 - 23 2691 c.2578G>T c.(2578-2580)Gag>Tag p.E860* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.E866* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 866 DHR-1. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTTTGGCACTCTTGGAAAAAT 0.383000 46 149 1.61004e-24 2.8523e-24 1 1 0 CCAR2 57805 broad.mit.edu 37 8 22475291 22475291 + Splice_Site SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:22475291G>C ENST00000308511.4 + 16 2322 c.2073_splice c.e16+1 p.M691_splice KIAA1967_ENST00000389279.3_Splice_Site_p.M691_splice|KIAA1967_ENST00000520861.1_Splice_Site_p.M366_splice Q8N163 K1967_HUMAN 691 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TTCAGGACATGGTGAGGCCTC 0.557000 34 86 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188037 152188037 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:152188037G>T ENST00000368801.2 - 3 6143 c.6068C>A c.(6067-6069)tCa>tAa p.S2023* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2023 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTGTCCTGATGCAGAACC 0.552000 65 2050 2.61193e-14 3.92071e-14 1 1 0 UBN2 254048 broad.mit.edu 37 7 138921844 138921844 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:138921844G>T ENST00000288561.8 + 2 561 c.e2+1 UBN2_ENST00000473989.2_Splice_Site NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 AATGAAATATGTGAGTATAAT 0.393000 76 127 7.45626e-27 1.35533e-26 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66201699 66201699 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:66201699G>T ENST00000273854.3 - 16 3403 c.2803C>A c.(2803-2805)Ctg>Atg p.L935M EPHA5_ENST00000511294.1_Missense_Mutation_p.L936M|EPHA5_ENST00000354839.4_Missense_Mutation_p.L913M|EPHA5_ENST00000432638.2_Missense_Mutation_p.L772M NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 935 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTACGTATCAGCTTGTCCAAC 0.453000 TSP Lung(17;0.13) 38 105 4.00102e-26 7.1608e-26 1 1 0 SI 6476 broad.mit.edu 37 3 164709984 164709984 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:164709984C>T ENST00000264382.3 - 43 5026 c.4964G>A c.(4963-4965)cGg>cAg p.R1655Q NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1655 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCAAACCACCGAGCATTGGG 0.348000 HNSCC(35;0.089) 59 221 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65267721 65267721 + RNA SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:65267721G>C ENST00000534336.1 + 0 2489 NR_002819.2 CTTAAATATAGTAGCTTAGTT 0.323000 9 24 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54305107 54305107 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:54305107G>A ENST00000545554.1 + 1 7 c.7G>A c.(7-9)Gct>Act p.A3T UNC13C_ENST00000260323.11_Missense_Mutation_p.A3T|UNC13C_ENST00000537900.1_Missense_Mutation_p.A3T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 3 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTCCATGGTGGCTAATTTTTT 0.358000 5 48 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56350124 56350124 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:56350124T>A ENST00000370754.5 - 88 21099 c.21100A>T c.(21100-21102)Atc>Ttc p.I7034F DST_ENST00000446842.2_Missense_Mutation_p.I6530F|DST_ENST00000361203.3_Missense_Mutation_p.I6745F|DST_ENST00000421834.2_Missense_Mutation_p.I4768F|DST_ENST00000370788.2_Missense_Mutation_p.I4659F|DST_ENST00000370769.4_Missense_Mutation_p.I6856F|DST_ENST00000244364.6_Missense_Mutation_p.I4442F|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 6854 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGATTATCGATCAGATTCATC 0.368000 15 57 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155158050 155158050 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:155158050G>T ENST00000392825.3 + 9 1671 c.1104G>T c.(1102-1104)ctG>ctT p.L368L GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.L368L NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 368 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ACAGGAGACTGGCAGAAGTTT 0.393000 54 163 4.86159e-25 8.63459e-25 1 1 0 SLAMF7 57823 broad.mit.edu 37 1 160722000 160722000 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:160722000G>T ENST00000368043.3 + 6 935 c.898G>T c.(898-900)Gca>Tca p.A300S SLAMF7_ENST00000458104.2_Missense_Mutation_p.S118I|SLAMF7_ENST00000444090.2_Missense_Mutation_p.S134I|SLAMF7_ENST00000458602.2_Missense_Mutation_p.A153S|SLAMF7_ENST00000359331.4_Missense_Mutation_p.S265I|SLAMF7_ENST00000368042.3_Missense_Mutation_p.A193S|SLAMF7_ENST00000441662.2_Missense_Mutation_p.A169S NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 300 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGAAGATCCAGCAAATACGGT 0.368000 15 54 1.02788e-11 1.42354e-11 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95816710 95816710 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:95816710C>A ENST00000376887.4 - 16 2211 c.2097G>T c.(2095-2097)caG>caT p.Q699H ABCC4_ENST00000536256.1_Missense_Mutation_p.Q624H|ABCC4_ENST00000412704.1_Intron|ABCC4_ENST00000431522.1_Missense_Mutation_p.Q699H NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 699 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TCTTATAGGCCTGAAAACCAA 0.398000 11 40 0.00136819 0.0014426 1 1 0 NAALADL2 254827 broad.mit.edu 37 3 175165127 175165127 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:175165127G>T ENST00000454872.1 + 6 1329 c.1201G>T c.(1201-1203)Gaa>Taa p.E401* NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 401 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) AACCAAAAATGAAGCGTGTAG 0.388000 6 17 3.59834e-05 3.94912e-05 1 1 0 XIST 7503 broad.mit.edu 37 X 73071147 73071147 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:73071147C>A ENST00000429829.1 - 0 1441 NR_001564.2 AAACCCAACACGAAAAGCACA 0.517000 66 124 7.92265e-33 1.50272e-32 1 1 0 SRPR 6734 broad.mit.edu 37 11 126136508 126136508 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:126136508C>G ENST00000332118.6 - 6 857 c.703G>C c.(703-705)Gat>Cat p.D235H SRPR_ENST00000532259.1_Missense_Mutation_p.D207H NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 235 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTTGGAGCATCTGACTTCGTG 0.498000 27 169 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57350926 57350926 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:57350926G>T ENST00000342756.5 + 10 1703 c.982G>T c.(982-984)Gcc>Tcc p.A328S SRP72_ENST00000510663.1_Missense_Mutation_p.A267S NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 328 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) CAAAATATCTGCCAGTTTACA 0.423000 27 140 2.81731e-10 3.7244e-10 1 1 0 IGHV3-23 28442 broad.mit.edu 37 14 106725449 106725449 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:106725449C>A ENST00000390609.2 - 0 181 CTCAGGGACCCCCCAGGCTGT 0.587000 16 52 3.41278e-10 4.47767e-10 1 1 0 MGA 23269 broad.mit.edu 37 15 42041399 42041399 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:42041399A>G ENST00000219905.7 + 17 5775 c.5594A>G c.(5593-5595)aAt>aGt p.N1865S MGA_ENST00000566586.1_Missense_Mutation_p.N1656S|MGA_ENST00000389936.4_Missense_Mutation_p.N1826S|MGA_ENST00000570161.1_Missense_Mutation_p.N1865S|MGA_ENST00000545763.1_Missense_Mutation_p.N1656S NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1826 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) TCTGTCATGAATCCTGTAATT 0.483000 10 68 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108339171 108339171 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:108339171C>A ENST00000263054.6 - 25 3334 c.3327G>T c.(3325-3327)gtG>gtT p.V1109V SORCS1_ENST00000344440.6_Silent_p.V1109V|SORCS1_ENST00000369698.1_Silent_p.V644V NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1109 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCACAAACACCACTGAGAGCA 0.547000 16 34 3.32936e-07 3.9057e-07 1 1 0 OR8J1 219477 broad.mit.edu 37 11 56128118 56128118 + Nonsense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:56128118C>G ENST00000303039.3 + 1 428 c.396C>G c.(394-396)taC>taG p.Y132* NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) CTCTGCTGTACATGGTGGTGG 0.488000 34 102 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79324604 79324604 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:79324604C>A ENST00000419573.3 - 7 1287 c.1013G>T c.(1012-1014)cGc>cTc p.R338L RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R338L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 338 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.R338H(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTGGTGGTTGCGGACGAACTC 0.587000 10 26 6.42651e-13 9.22985e-13 1 1 0 OR2W3 343171 broad.mit.edu 37 1 248059676 248059676 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248059676G>T ENST00000537741.1 + 3 1045 c.788G>T c.(787-789)gGa>gTa p.G263V OR2W3_ENST00000360358.3_Missense_Mutation_p.G263V Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATGCAGCCAGGAGCCAGTTCT 0.527000 39 105 2.26627e-22 3.86763e-22 1 1 0 PLEKHA5 54477 broad.mit.edu 37 12 19427917 19427917 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:19427917G>T ENST00000538714.1 + 10 1299 c.1295_splice c.e10+1 p.G432_splice PLEKHA5_ENST00000359180.3_Splice_Site_p.G432_splice|PLEKHA5_ENST00000309364.4_Splice_Site_p.G432_splice|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Splice_Site_p.G190_splice|PLEKHA5_ENST00000429027.2_Splice_Site_p.G438_splice|PLEKHA5_ENST00000317589.4_Splice_Site_p.G432_splice|PLEKHA5_ENST00000424268.1_Splice_Site_p.G324_splice|PLEKHA5_ENST00000355397.3_Splice_Site_p.G432_splice|PLEKHA5_ENST00000299275.6_Splice_Site_p.G432_splice|PLEKHA5_ENST00000543806.1_Splice_Site_p.G324_splice NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 432 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GAAACCAGGGGGTAAGTGTCT 0.423000 8 20 3.09899e-07 3.64771e-07 1 1 0 TPR 7175 broad.mit.edu 37 1 186332108 186332108 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:186332108T>C ENST00000367478.3 - 6 853 c.557A>G c.(556-558)gAa>gGa p.E186G TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 186 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) CAATTCCTTTTCTTGCTCCAA 0.338000 T NTRK1 papillary thyroid 7 51 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786456 19786456 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:19786456G>T ENST00000341998.2 - 1 470 c.409C>A c.(409-411)Ctg>Atg p.L137M SLC24A2_ENST00000286344.3_Missense_Mutation_p.L137M NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 137 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ATGACATGCAGAATGATCGCA 0.433000 74 105 9.63364e-24 1.68528e-23 1 1 0 NPY5R 4889 broad.mit.edu 37 4 164272170 164272170 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:164272170C>A ENST00000515560.1 + 4 2267 c.745C>A c.(745-747)Ctt>Att p.L249I NPY5R_ENST00000506953.1_Missense_Mutation_p.L249I|NPY5R_ENST00000338566.3_Missense_Mutation_p.L249I Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 249 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AGAAAACAGACTTGAAGAAAA 0.383000 38 94 2.75727e-19 4.46537e-19 1 1 0 PTPRT 11122 broad.mit.edu 37 20 40790053 40790053 + Nonsense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:40790053A>T ENST00000373198.3 - 18 2922 c.2687T>A c.(2686-2688)tTg>tAg p.L896* PTPRT_ENST00000373184.1_Nonsense_Mutation_p.L864*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.L864*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.L883*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.L877*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.L874*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.L873* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 874 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTGCTGCAGCAAGTCAGCCAC 0.587000 16 91 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004939 248004939 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248004939G>A ENST00000355784.2 - 1 315 c.260C>T c.(259-261)tCc>tTc p.S87F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S87Y(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTGGCCCCAGGACAGCAGGTT 0.572000 4 47 0 0 1 0 0 FAM129C 199786 broad.mit.edu 37 19 17660373 17660373 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:17660373A>T ENST00000595684.1 + 15 2018 c.1880A>T c.(1879-1881)gAt>gTt p.D627V FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000599164.1_Intron|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000600871.1_Intron Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 0 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 CATGCCAGTGATTGCTGGGGG 0.562000 13 66 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595063 140595063 + Nonsense_Mutation SNP C C A rs150126829 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140595063C>A ENST00000341948.4 + 1 1555 c.1368C>A c.(1366-1368)taC>taA p.Y456* NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 456 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACCTCCTACACCCTGTTCG 0.587000 78 118 1.39921e-30 2.6044e-30 1 1 0 TAF1 6872 broad.mit.edu 37 X 70617292 70617292 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:70617292G>C ENST00000449580.1 + 23 3644 c.3593G>C c.(3592-3594)cGg>cCg p.R1198P TAF1_ENST00000276072.3_Missense_Mutation_p.R1219P|TAF1_ENST00000423759.1_Missense_Mutation_p.R1219P|TAF1_ENST00000373790.4_Missense_Mutation_p.R1198P P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1198 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GTGCGCATACGGACTACAAAA 0.468000 13 104 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322898 61322898 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:61322898G>T ENST00000283752.5 - 8 1309 c.1166C>A c.(1165-1167)tCc>tAc p.S389Y SERPINB3_ENST00000332821.8_Missense_Mutation_p.S337Y|SERPINB11_ENST00000489748.1_RNA NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 389 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CATCTACGGGGATGAGAATCT 0.408000 47 102 1.22119e-34 2.33532e-34 1 1 0 TRBV10-1 28585 broad.mit.edu 37 7 142232039 142232039 + RNA SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:142232039G>T ENST00000390364.3 - 0 51 TCCAGGGCAGGATCTTGTGTC 0.572000 28 57 2.70662e-09 3.47923e-09 1 1 0 KRT84 3890 broad.mit.edu 37 12 52778902 52778902 + Silent SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:52778902G>C ENST00000257951.3 - 1 534 c.468C>G c.(466-468)ccC>ccG p.P156P RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 156 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTGGGCATTGGGGTCAATCT 0.507000 43 252 0 0 1 0 0 SLC23A3 151295 broad.mit.edu 37 2 220028137 220028137 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:220028137G>A ENST00000455516.2 - 10 1485 c.1438C>T c.(1438-1440)Cgg>Tgg p.R480W SLC23A3_ENST00000295738.7_Missense_Mutation_p.R355W|SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R472W NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 472 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCTTCCCGAAACCATCTT 0.547000 23 198 0 0 1 0 0 STK26 51765 broad.mit.edu 37 X 131202311 131202311 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:131202311C>A ENST00000394334.2 + 5 652 c.399C>A c.(397-399)gaC>gaA p.D133E MST4_ENST00000354719.6_Missense_Mutation_p.D133E|MST4_ENST00000394335.2_Missense_Mutation_p.D56E|MST4_ENST00000496850.1_Missense_Mutation_p.D133E|MST4_ENST00000481105.1_Missense_Mutation_p.D155E NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 133 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) AAGGTCTGGACTATCTGCATT 0.373000 21 115 7.87624e-14 1.16722e-13 1 1 0 FLNC 2318 broad.mit.edu 37 7 128489239 128489239 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:128489239C>T ENST00000325888.8 + 29 5193 c.4932C>T c.(4930-4932)tcC>tcT p.S1644S FLNC_ENST00000346177.6_Silent_p.S1644S NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1644 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TTCCAGTGTCCATTGGAGGCC 0.657000 26 47 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515278 113515278 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:113515278G>T ENST00000257600.3 + 2 812 c.309G>T c.(307-309)ccG>ccT p.P103P NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 103 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding p.P103P(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGTCGGCGCCGGGCAAGGGCA 0.652000 15 53 6.94344e-10 9.00841e-10 1 1 0 C19orf44 84167 broad.mit.edu 37 19 16611991 16611991 + Nonsense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:16611991A>T ENST00000221671.3 + 2 544 c.388A>T c.(388-390)Aga>Tga p.R130* CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Nonsense_Mutation_p.R130* NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 130 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 TCTTCCAAAGAGAGCTGACAG 0.532000 43 101 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83984262 83984262 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:83984262G>T ENST00000418306.2 - 1 61 c.37C>A c.(37-39)Cag>Aag p.Q13K DLG2_ENST00000532653.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000280241.8_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.Q13K NM_001142700.1 NP_001136172.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CACAAAAGCTGATAATTCTCA 0.383000 3 10 0.115264 0.1166 1 1 0 IGHV4-28 28400 broad.mit.edu 37 14 106780679 106780679 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:106780679C>A ENST00000390612.2 - 0 256 CAGTCCCTTCCCTGGGGGCTG 0.567000 17 43 2.35188e-11 3.21885e-11 1 1 0 WAS 7454 broad.mit.edu 37 X 48545178 48545178 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:48545178G>T ENST00000376701.4 + 7 643 c.568G>T c.(568-570)Gtg>Ttg p.V190L WAS_ENST00000483750.1_3'UTR NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 190 blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) AGGCCCTCCAGTGGGTCCGCT 0.587000 """Mis, N, F, S""" lymphoma 10 75 5.50884e-06 6.25231e-06 1 1 0 NEDD4 4734 broad.mit.edu 37 15 56142789 56142789 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:56142789G>A ENST00000508342.1 - 10 2854 c.2555C>T c.(2554-2556)cCa>cTa p.P852L NEDD4_ENST00000506154.1_Missense_Mutation_p.P836L|NEDD4_ENST00000435532.3_Missense_Mutation_p.P433L|NEDD4_ENST00000338963.2_Missense_Mutation_p.P780L P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 852 Mediates interaction with TNIK (By similarity).|WW 3. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CCTCCCATTTGGTGCATGCCG 0.438000 94 174 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230723835 230723835 + Nonsense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:230723835G>C ENST00000283943.5 - 3 732 c.554C>G c.(553-555)tCa>tGa p.S185* TRIP12_ENST00000543084.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000409677.1_Nonsense_Mutation_p.S227*|TRIP12_ENST00000389044.4_Nonsense_Mutation_p.S227*|TRIP12_ENST00000389045.3_Intron NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 185 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity p.S185*(1) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AGCTTTGGCTGAGGTGGCTGA 0.522000 21 68 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 26825467 26825467 + Splice_Site SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:26825467T>A ENST00000541819.2 - 7 951 c.850_splice c.e7+1 p.T283_splice GABRB3_ENST00000400188.3_Splice_Site_p.T156_splice|GABRB3_ENST00000299267.4_Splice_Site_p.T227_splice|GABRB3_ENST00000545868.1_Splice_Site_p.T142_splice|GABRB3_ENST00000311550.5_Splice_Site_p.T227_splice P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 227 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGGACTCACCTGTGGCGAAGA 0.567000 30 55 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824943 162824943 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:162824943C>A ENST00000367912.1 - 4 692 c.518G>T c.(517-519)gGc>gTc p.G173V C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.G169V|C1orf110_ENST00000367910.1_Missense_Mutation_p.G174V Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 174 p.G174D(1) endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 AACAGAGATGCCCTTGCTGGG 0.463000 86 262 1.78623e-52 3.57246e-52 1 1 0 AIM1L 55057 broad.mit.edu 37 1 26650714 26650714 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:26650714C>A ENST00000527815.1 - 17 2093 c.2044G>T c.(2044-2046)Gtg>Ttg p.V682L AIM1L_ENST00000308182.5_Missense_Mutation_p.V511L NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 511 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GCGACCACCACACGGCCTGCT 0.602000 18 80 1.50039e-11 2.06563e-11 1 1 0 OR13F1 138805 broad.mit.edu 37 9 107267410 107267410 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:107267410C>A ENST00000334726.2 + 1 956 c.867C>A c.(865-867)atC>atA p.I289I NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATCCTATCATCTATAGTCTAC 0.403000 26 44 9.57634e-11 1.2904e-10 1 1 0 KIF26B 55083 broad.mit.edu 37 1 245847653 245847653 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:245847653C>A ENST00000366518.4 + 8 1338 c.1234C>A c.(1234-1236)Cag>Aag p.Q412K KIF26B_ENST00000407071.2_Missense_Mutation_p.Q793K Q2KJY2 KI26B_HUMAN kinesin family member 26B 793 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GTCCACCATCCAGATTGCATC 0.607000 10 33 0.000442599 0.000472377 1 1 0 SLC9C1 285335 broad.mit.edu 37 3 111983046 111983046 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:111983046C>A ENST00000305815.5 - 9 1275 c.e9+1 SLC9C1_ENST00000487372.1_Intron NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity GATGTTCTTACCTTAAAACAA 0.234000 9 15 1.12685e-05 1.26454e-05 1 1 0 IRX3 79191 broad.mit.edu 37 16 54319090 54319090 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:54319090C>A ENST00000329734.3 - 2 1415 c.703G>T c.(703-705)Ggg>Tgg p.G235W NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 235 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 tcctcctcccccccgagctcc 0.657000 4 5 0.00909568 0.00930907 1 1 0 GDI1 2664 broad.mit.edu 37 X 153666923 153666923 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:153666923G>T ENST00000447750.2 + 2 435 c.100G>T c.(100-102)Gac>Tac p.D34Y NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 34 D -> G (in Ref. 2; BAA08078). protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGCACATGGACCGGAACCC 0.622000 13 94 7.02657e-22 1.18754e-21 1 1 0 ALPP 250 broad.mit.edu 37 2 233243716 233243716 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:233243716G>A ENST00000392027.2 + 2 381 c.112G>A c.(112-114)Gca>Aca p.A38T NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 38 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GAACCGCGAGGCAGCCGAGGC 0.632000 51 118 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216262472 216262472 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:216262472C>T ENST00000354785.4 - 22 3817 c.3448G>A c.(3448-3450)Gtc>Atc p.V1150I FN1_ENST00000443816.1_Missense_Mutation_p.V1150I|FN1_ENST00000359671.1_Missense_Mutation_p.V1150I|FN1_ENST00000356005.4_Missense_Mutation_p.V1150I|FN1_ENST00000346544.3_Missense_Mutation_p.V1150I|FN1_ENST00000345488.5_Missense_Mutation_p.V1150I|FN1_ENST00000336916.4_Missense_Mutation_p.V1150I|FN1_ENST00000432072.2_Missense_Mutation_p.V1150I|FN1_ENST00000357867.4_Missense_Mutation_p.V1150I|FN1_ENST00000421182.1_Missense_Mutation_p.V1150I|FN1_ENST00000323926.6_Missense_Mutation_p.V1150I|FN1_ENST00000446046.1_Missense_Mutation_p.V1150I|FN1_ENST00000357009.2_Missense_Mutation_p.V1150I P02751 FINC_HUMAN fibronectin 1 1150 Fibronectin type-III 6. 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) ATGGTGTAGACGTATTCTACT 0.483000 18 115 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70389658 70389658 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:70389658C>A ENST00000374051.3 + 7 2520 c.2198C>A c.(2197-2199)cCg>cAg p.P733Q NLGN3_ENST00000358741.3_Missense_Mutation_p.P753Q|NLGN3_ENST00000536169.1_Missense_Mutation_p.P713Q|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 753 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GCCGGGGCCCCGGAGTTGGGA 0.672000 7 23 8.12818e-05 8.85097e-05 1 1 0 FLT3 2322 broad.mit.edu 37 13 28609802 28609802 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:28609802T>A ENST00000380982.4 - 12 1508 c.1427A>T c.(1426-1428)gAa>gTa p.E476V FLT3_ENST00000537084.1_Missense_Mutation_p.E476V|FLT3_ENST00000241453.7_Missense_Mutation_p.E476V P36888 FLT3_HUMAN fms-related tyrosine kinase 3 476 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGTGATCTCTTCTGTGCAGCT 0.408000 """Mis, O""" """AML, ALL""" 25 53 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220935059 220935059 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:220935059C>T ENST00000366913.3 + 3 704 c.506C>T c.(505-507)aCc>aTc p.T169I MARC2_ENST00000359316.2_Missense_Mutation_p.T169I NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 169 T -> A (in Ref. 2; CAL38507). mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding AAGTGGTTCACCAACTTCTTG 0.398000 29 73 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162675 33162675 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:33162675C>A ENST00000510327.1 - 0 346 GCCAAGCTGACTCCTGAGGAA 0.453000 9 23 0.00448238 0.00466275 1 1 0 EYS 346007 broad.mit.edu 37 6 66054017 66054017 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:66054017C>A ENST00000503581.1 - 10 2050 c.1513G>T c.(1513-1515)Gca>Tca p.A505S EYS_ENST00000370621.3_Missense_Mutation_p.A505S|EYS_ENST00000370618.3_Missense_Mutation_p.A505S|EYS_ENST00000393380.2_Missense_Mutation_p.A505S|EYS_ENST00000342421.5_Missense_Mutation_p.A505S|EYS_ENST00000370616.2_Missense_Mutation_p.A505S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 505 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GTGCAGTTTGCAGCCAGAAAG 0.353000 28 55 7.76418e-22 1.30903e-21 1 1 0 POTEH 23784 broad.mit.edu 37 22 16287446 16287446 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr22:16287446C>A ENST00000343518.6 - 1 491 c.440G>T c.(439-441)aGg>aTg p.R147M NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 147 p.R147K(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 GCCGCTCCCCCTGCAGCAGGG 0.587000 74 213 2.42809e-49 4.81479e-49 1 1 0 FRMPD3 84443 broad.mit.edu 37 X 106797698 106797698 + Silent SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:106797698T>C ENST00000276185.4 + 9 825 c.825T>C c.(823-825)cgT>cgC p.R275R FRMPD3_ENST00000477796.1_3'UTR Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 275 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGCTGCTGCGTCGGGATCCTG 0.512000 4 33 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17597453 17597453 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:17597453C>A ENST00000375460.3 + 8 951 c.911C>A c.(910-912)cCa>cAa p.P304Q NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 304 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGCACTCTGCCACCCCTAGAG 0.637000 18 48 2.48551e-13 3.59934e-13 1 1 0 PHYHIP 9796 broad.mit.edu 37 8 22079151 22079151 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:22079151G>T ENST00000454243.2 - 5 1282 c.708C>A c.(706-708)atC>atA p.I236I PHYHIP_ENST00000321613.3_Silent_p.I236I NM_014759.3 NP_055574.3 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 236 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) CCAGCACCAGGATGGCGTAGT 0.622000 5 20 1.23904e-05 1.38598e-05 1 1 0 WWC3 55841 broad.mit.edu 37 X 10062251 10062251 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:10062251G>T ENST00000380861.4 + 7 978 c.587G>T c.(586-588)gGc>gTc p.G196V WWC3_ENST00000454666.1_Missense_Mutation_p.G196V NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 196 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CACCATGTAGGCGTGCCTGGC 0.577000 34 130 7.11191e-15 1.07915e-14 1 1 0 WIPF2 147179 broad.mit.edu 37 17 38420855 38420855 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:38420855G>T ENST00000323571.4 + 5 667 c.427G>T c.(427-429)Gcc>Tcc p.A143S WIPF2_ENST00000583130.1_Missense_Mutation_p.A143S|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.A143S NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 143 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CAGCAGCCGGGCCTCACTCCC 0.617000 HNSCC(43;0.11) 42 425 4.44401e-20 7.29864e-20 1 1 0 OPRK1 4986 broad.mit.edu 37 8 54147529 54147529 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:54147529C>T ENST00000265572.3 - 3 697 c.400G>A c.(400-402)Gta>Ata p.V134I OPRK1_ENST00000520287.1_Missense_Mutation_p.V134I|OPRK1_ENST00000524278.1_Missense_Mutation_p.V45I|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 134 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ATGGAAATTACTATCTTGCAC 0.478000 14 99 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198953731 198953731 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:198953731G>T ENST00000428675.1 + 3 3263 c.2865G>T c.(2863-2865)gaG>gaT p.E955D PLCL1_ENST00000437704.2_Missense_Mutation_p.E857D NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 955 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTTACCTGGAGCCTCTGGGTG 0.453000 58 212 4.46115e-38 8.64968e-38 1 1 0 BIRC6 57448 broad.mit.edu 37 2 32715201 32715201 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:32715201C>G ENST00000421745.2 + 43 8323 c.8189C>G c.(8188-8190)aCa>aGa p.T2730R NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2730 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ACACTCATGACAAACATGCAG 0.353000 39 136 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175066575 175066575 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:175066575G>T ENST00000239462.4 + 8 1724 c.1611G>T c.(1609-1611)ctG>ctT p.L537L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 537 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGCAAACCTGGTGACTGACC 0.507000 15 66 0.00316338 0.00330545 1 1 0 DHTKD1 55526 broad.mit.edu 37 10 12123617 12123617 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:12123617C>T ENST00000263035.4 + 2 363 c.301C>T c.(301-303)Cac>Tac p.H101Y DHTKD1_ENST00000465617.1_3'UTR NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 101 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGGACCCTTCCACACGGCAGG 0.587000 34 81 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147861027 147861027 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:147861027C>A ENST00000513335.1 - 4 298 c.99G>T c.(97-99)ctG>ctT p.L33L TTC29_ENST00000325106.4_Silent_p.L7L|TTC29_ENST00000398886.4_Silent_p.L33L|RP11-292D4.2_ENST00000515530.1_RNA Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 7 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GTGTCATGGGCAGTGGGGGCA 0.418000 6 25 2.0095e-06 2.29939e-06 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21456355 21456355 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:21456355G>T ENST00000313654.9 + 39 5337 c.5096G>T c.(5095-5097)gGc>gTc p.G1699V LAMA3_ENST00000587184.1_Missense_Mutation_p.G90V|LAMA3_ENST00000399516.3_Missense_Mutation_p.G1699V|LAMA3_ENST00000269217.6_Missense_Mutation_p.G90V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1699 Domain III A.|Laminin EGF-like 13. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCCAGGATGGCTCAGGCATA 0.448000 17 32 8.00594e-06 9.05696e-06 1 1 0 GBE1 2632 broad.mit.edu 37 3 81640267 81640267 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:81640267T>A ENST00000429644.2 - 9 1800 c.1157A>T c.(1156-1158)gAt>gTt p.D386V GBE1_ENST00000489715.1_Missense_Mutation_p.D345V NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 386 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) GGCATCTTCATCTACTTGTAG 0.368000 Glycogen Storage Disease, type IV 13 13 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473147 22473147 + RNA SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:22473147C>T ENST00000557788.2 - 0 123 CCAGAGACAACGCAGGTGAGG 0.612000 11 172 0 0 1 0 0 HAUS7 55559 broad.mit.edu 37 X 152719880 152719880 + Nonsense_Mutation SNP C C T rs143828088 byFrequency TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:152719880C>T ENST00000370219.3 - 9 1604 c.1047G>A c.(1045-1047)tgG>tgA p.W349* HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370211.4_Nonsense_Mutation_p.W339*|HAUS7_ENST00000370212.3_Nonsense_Mutation_p.W408*|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000421080.2_3'UTR NM_017518.6 NP_059988.3 Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 349 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 TGCTGCCACCCCAGCAGATCT 0.632000 9 45 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128844873 128844873 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:128844873C>A ENST00000274487.4 + 3 978 c.833C>A c.(832-834)tCc>tAc p.S278Y CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 278 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.S278F(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CAGAAAAGGTCCATGGAGGAA 0.398000 27 76 2.4375e-19 3.96591e-19 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34090806 34090806 + Missense_Mutation SNP C C T rs150609588 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:34090806C>T ENST00000373381.4 - 34 5521 c.5345G>A c.(5344-5346)cGc>cAc p.R1782H CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R655H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1742 Sushi 10. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTTGCCATAGCGGGGTTCCGG 0.657000 10 30 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541832 55541832 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:55541832G>T ENST00000361760.1 + 1 919 c.919G>T c.(919-921)Gtt>Ttt p.V307F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGAAAAATTAGTTGTCACCAA 0.343000 16 35 1.15088e-07 1.37318e-07 1 1 0 SPTBN1 6711 broad.mit.edu 37 2 54856417 54856417 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:54856417C>T ENST00000333896.5 + 13 2492 c.2107C>T c.(2107-2109)Cgt>Tgt p.R703C SPTBN1_ENST00000356805.4_Missense_Mutation_p.R716C NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 716 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GGAGAAGATCCGTGAGAGGAT 0.602000 19 104 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106960438 106960438 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:106960438G>A ENST00000369066.3 + 1 709 c.222G>A c.(220-222)gcG>gcA p.A74A NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 74 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CCTCCGCTGCGAGCCCAGAGT 0.677000 5 11 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89445035 89445035 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:89445035G>T ENST00000336596.2 + 6 1580 c.1355G>T c.(1354-1356)aGc>aTc p.S452I EPHA3_ENST00000452448.2_Missense_Mutation_p.S452I|EPHA3_ENST00000494014.1_Missense_Mutation_p.S452I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 452 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TCCAGAAATAGCATCTCTTTG 0.438000 TSP Lung(6;0.00050) 91 149 1.42479e-40 2.77793e-40 1 1 0 TNN 63923 broad.mit.edu 37 1 175066705 175066705 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:175066705G>T ENST00000239462.4 + 8 1854 c.1741G>T c.(1741-1743)Gag>Tag p.E581* NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 581 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGTGGGGAAGGAGCAGAGCAG 0.602000 16 51 8.60227e-14 1.26675e-13 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10468873 10468873 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:10468873C>A ENST00000382483.3 - 4 2958 c.2735G>T c.(2734-2736)aGt>aTt p.S912I NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 912 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGGCTGGCACTGCTTCTCCT 0.716000 6 16 2.0095e-06 2.29939e-06 1 1 0 GZMB 3002 broad.mit.edu 37 14 25102225 25102225 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:25102225G>T ENST00000216341.4 - 2 205 c.99C>A c.(97-99)ccC>ccA p.P33P RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Silent_p.P67P|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Silent_p.P21P|GZMB_ENST00000382540.1_Silent_p.P33P|GZMB_ENST00000526004.1_Silent_p.P33P P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 33 Peptidase S1. RP -> PR (in Ref. 12; AA sequence). activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) AAGCCATGTAGGGGCGGGAGT 0.567000 21 153 1.22574e-08 1.54156e-08 1 1 0 XCR1 2829 broad.mit.edu 37 3 46063307 46063307 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:46063307T>C ENST00000309285.3 - 2 489 c.133A>G c.(133-135)Agc>Ggc p.S45G XCR1_ENST00000542109.1_Missense_Mutation_p.S45G NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 45 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCCACTAGGCTGAGGAGAAAC 0.547000 8 85 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911289 88911289 + Missense_Mutation SNP G G C rs11545464 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:88911289G>C ENST00000263321.5 + 1 670 c.168G>C c.(166-168)caG>caC p.Q56H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 56 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GTTCCTGTCAGAATATCCTTC 0.552000 17 55 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4796776 4796776 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:4796776G>C ENST00000328914.4 + 5 1202 c.1202G>C c.(1201-1203)gGt>gCt p.G401A FOXK1_ENST00000446823.1_Missense_Mutation_p.G238A NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 401 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGGCAGAGGGGTGTCTCCTGC 0.607000 14 121 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247029 164247029 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:164247029A>T ENST00000296533.2 - 2 1209 c.678T>A c.(676-678)ttT>ttA p.F226L NPY1R_ENST00000509586.1_5'UTR NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 226 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAATAAATATAAAACAAAGTG 0.333000 16 24 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31473940 31473940 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:31473940G>A ENST00000457010.2 + 3 1773 c.1072G>A c.(1072-1074)Gag>Aag p.E358K ARMC5_ENST00000563544.1_Missense_Mutation_p.E358K|ARMC5_ENST00000268314.4_Missense_Mutation_p.E358K|ARMC5_ENST00000538189.1_Missense_Mutation_p.E390K|ARMC5_ENST00000408912.3_Missense_Mutation_p.E453K|ARMC5_ENST00000412665.2_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 358 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCTATGTCGTGAGGCCATCAA 0.647000 22 82 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128186061 128186061 + Missense_Mutation SNP G G A rs121918146 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:128186061G>A ENST00000453608.2 + 8 1098 c.1090G>A c.(1090-1092)Gcc>Acc p.A364T PROC_ENST00000409048.1_Missense_Mutation_p.A343T|PROC_ENST00000234071.3_Missense_Mutation_p.A309T|PROC_ENST00000422777.3_Missense_Mutation_p.A309T P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 309 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) GGCCCAGCCCGCCACCCTCTC 0.647000 27 81 0 0 1 0 0 ERVW-1 30816 broad.mit.edu 37 7 92099038 92099038 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:92099038C>A ENST00000493463.2 - 1 1581 c.658G>T c.(658-660)Gta>Tta p.V220L ERVW-1_ENST00000604270.1_Intron|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.V220L NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 220 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 agaggtcctactaaaacggaa 0.418000 16 137 3.41278e-10 4.47767e-10 1 1 0 STK26 51765 broad.mit.edu 37 X 131188889 131188889 + Splice_Site SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:131188889G>C ENST00000394334.2 + 3 526 c.273_splice c.e3+1 p.K91_splice MST4_ENST00000354719.6_Splice_Site_p.K91_splice|MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Splice_Site_p.K91_splice|MST4_ENST00000481105.1_Splice_Site_p.K91_splice NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 91 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) CATATTTAAAGGTAATGTGTG 0.303000 28 38 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95814260 95814260 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:95814260C>A ENST00000416240.2 - 10 1190 c.1000G>T c.(1000-1002)Ggt>Tgt p.G334C SLC25A13_ENST00000265631.5_Missense_Mutation_p.G333C|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G225C NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 333 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GAACCCAGACCAAACCTGTAG 0.428000 45 66 4.18559e-23 7.21368e-23 1 1 0 CENPI 2491 broad.mit.edu 37 X 100364529 100364529 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:100364529G>T ENST00000372927.1 + 4 709 c.432G>T c.(430-432)gtG>gtT p.V144V CENPI_ENST00000218507.5_Silent_p.V144V|CENPI_ENST00000423383.1_Silent_p.V144V|CENPI_ENST00000372926.1_Silent_p.V144V NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 144 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AAGATTCTGTGGTTAAGGCAG 0.398000 69 415 4.09166e-32 7.73978e-32 1 1 0 DMRTB1 63948 broad.mit.edu 37 1 53930491 53930491 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:53930491T>C ENST00000371445.3 + 3 987 c.932T>C c.(931-933)gTc>gCc p.V311A NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 311 sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 TCACTGACCGTCCTGTTTGAT 0.587000 44 113 0 0 1 0 0 CRKL 1399 broad.mit.edu 37 22 21272460 21272460 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr22:21272460C>G ENST00000354336.3 + 1 747 c.238C>G c.(238-240)Cat>Gat p.H80D NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 80 SH2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) GGAATTTGACCATTTGCCGGC 0.602000 15 45 0 0 1 0 0 BAALC 79870 broad.mit.edu 37 8 104225254 104225254 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:104225254C>A ENST00000309982.5 + 2 456 c.268C>A c.(268-270)Ccc>Acc p.P90T BAALC_ENST00000297574.6_Missense_Mutation_p.P125T|RP11-318M2.2_ENST00000523614.2_RNA|RP11-318M2.2_ENST00000499522.2_RNA|BAALC_ENST00000438105.2_Intron NM_024812.2 NP_079088.1 Q8WXS3 BAALC_HUMAN brain and acute leukemia, cytoplasmic 125 centrosome|membrane|nucleus kidney(1)|large_intestine(3)|lung(3) 7 OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133) GTGCCCAAATCCCCAGAGCCT 0.567000 30 115 8.4185e-14 1.24231e-13 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47970701 47970701 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:47970701C>A ENST00000289672.2 - 6 787 c.737_splice c.e6+1 p.S246_splice NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 246 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTCACCGTACCTTCTGGGAGA 0.547000 22 29 2.32416e-17 3.66199e-17 1 1 0 AMPD1 270 broad.mit.edu 37 1 115222305 115222305 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:115222305C>T ENST00000369538.3 - 6 926 c.879G>A c.(877-879)ctG>ctA p.L293L AMPD1_ENST00000520113.2_Silent_p.L297L|AMPD1_ENST00000353928.6_Silent_p.L264L NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 264 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AGAGGAACTTCAGGCGCCGGT 0.403000 41 163 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043547 117043547 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:117043547C>A ENST00000371876.1 - 4 3351 c.930G>T c.(928-930)atG>atT p.M310I KLHL13_ENST00000539496.1_Missense_Mutation_p.M364I|KLHL13_ENST00000545703.1_Missense_Mutation_p.M319I|KLHL13_ENST00000540167.1_Missense_Mutation_p.M345I|KLHL13_ENST00000541812.1_Missense_Mutation_p.M345I|KLHL13_ENST00000371878.1_Missense_Mutation_p.M310I|KLHL13_ENST00000469946.1_Missense_Mutation_p.M310I|KLHL13_ENST00000371882.1_Missense_Mutation_p.M310I|KLHL13_ENST00000262820.3_Missense_Mutation_p.M361I Q9P2N7 KLH13_HUMAN kelch-like family member 13 361 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TTTCATCATACATGCGCAATT 0.507000 40 100 7.53189e-24 1.32092e-23 1 1 0 SGOL2 151246 broad.mit.edu 37 2 201438629 201438629 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:201438629G>T ENST00000357799.4 + 7 3658 c.3560G>T c.(3559-3561)aGt>aTt p.S1187I NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 1187 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 TTTCAAGTAAGTGATGATGAG 0.358000 33 60 6.00712e-18 9.57299e-18 1 1 0 GPA33 10223 broad.mit.edu 37 1 167038355 167038355 + Silent SNP C C T rs144380186 byFrequency TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:167038355C>T ENST00000367868.3 - 3 562 c.219G>A c.(217-219)ccG>ccA p.P73P GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 73 Ig-like V-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGTTTGAAAACGGCCAGATGA 0.507000 4 43 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43870150 43870150 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:43870150A>T ENST00000562955.1 + 4 427 c.427A>T c.(427-429)Atc>Ttc p.I143F SZT2_ENST00000310739.4_Missense_Mutation_p.I143F|SZT2_ENST00000372450.4_Missense_Mutation_p.I141F NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 143 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGGATCTTGCATCGACTTCCA 0.527000 24 97 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27186946 27186946 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:27186946C>T ENST00000222728.3 - 1 447 c.423G>A c.(421-423)caG>caA p.Q141Q HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 AGTTCATCCGCTGCATCCAAG 0.557000 7 102 0 0 1 0 0 SSX6 280657 broad.mit.edu 37 X 47969905 47969905 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:47969905G>T ENST00000376932.2 + 3 182 c.108G>T c.(106-108)gaG>gaT p.E36D SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 CTAAGGAAGAGTGGGAAAAGA 0.408000 32 90 1.62565e-12 2.29233e-12 1 1 0 GPR141 353345 broad.mit.edu 37 7 37780049 37780049 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:37780049C>A ENST00000447769.1 + 4 343 c.54C>A c.(52-54)ccC>ccA p.P18P EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.P18P Q7Z602 GP141_HUMAN G protein-coupled receptor 141 18 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TAGTGACACCCCACTTAATCA 0.488000 30 251 3.1745e-13 4.5781e-13 1 1 0 POU3F4 5456 broad.mit.edu 37 X 82763370 82763370 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:82763370G>T ENST00000373200.2 + 1 102 c.38G>T c.(37-39)aGt>aTt p.S13I RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298.2 P49335 PO3F4_HUMAN POU class 3 homeobox 4 13 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 AGCATTCTCAGTTCCACCTCC 0.537000 4 35 2.56e-06 2.91974e-06 1 1 0 STARD13 90627 broad.mit.edu 37 13 33741731 33741731 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:33741731C>A ENST00000336934.5 - 2 314 c.198G>T c.(196-198)tgG>tgT p.W66C STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.W58C NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 66 SAM. 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) CAGCACGGAGCCAGTCACATG 0.473000 13 41 2.27111e-07 2.67776e-07 1 1 0 IKZF1 10320 broad.mit.edu 37 7 50450323 50450323 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:50450323G>T ENST00000331340.3 + 5 662 c.507G>T c.(505-507)ggG>ggT p.G169G IKZF1_ENST00000343574.5_Silent_p.G82G|IKZF1_ENST00000438033.1_Silent_p.G82G|IKZF1_ENST00000439701.1_Silent_p.G169G|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Silent_p.G169G|IKZF1_ENST00000359197.5_Silent_p.G169G|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Silent_p.G169G NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 169 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TGCATTCCGGGGAGAAGCCCT 0.637000 """D,T""" BCL6 """ALL, DLBCL""" 6 21 0.0215528 0.0219939 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151945027 151945027 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:151945027G>C ENST00000355193.2 - 14 2710 c.2492C>G c.(2491-2493)aCt>aGt p.T831S KMT2C_ENST00000262189.6_Missense_Mutation_p.T831S lysine (K)-specific methyltransferase 2C TTTTCTCTTAGTAATAGCTGG 0.373000 16 429 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138373751 138373751 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:138373751G>C ENST00000409968.1 + 18 3608 c.3430G>C c.(3430-3432)Gat>Cat p.D1144H THSD7B_ENST00000272643.3_Missense_Mutation_p.D1147H|THSD7B_ENST00000413152.2_Missense_Mutation_p.D1116H|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATAGTCATGCGATCCCCACAC 0.413000 30 101 0 0 1 0 0 IGKV1-5 28299 broad.mit.edu 37 2 89246900 89246900 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:89246900C>A ENST00000496168.1 - 0 450 TGAATTCTGTCCCAGATCCAC 0.478000 62 163 3.56336e-21 5.9079e-21 1 1 0 TAS2R31 259290 broad.mit.edu 37 12 11183898 11183898 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:11183898C>A ENST00000390675.2 - 1 108 c.37G>T c.(37-39)Gta>Tta p.V13L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 13 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 AGAACCACTACCACACTGGAA 0.383000 10 81 4.68919e-08 5.72212e-08 1 1 0 ALAS2 212 broad.mit.edu 37 X 55041222 55041222 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:55041222G>T ENST00000330807.5 - 9 1532 c.1395C>A c.(1393-1395)ggC>ggA p.G465G ALAS2_ENST00000396198.3_Silent_p.G452G|ALAS2_ENST00000335854.4_Silent_p.G428G|ALAS2_ENST00000498636.1_5'UTR NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 465 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) TGACAGGAAGGCCCCTGTCCA 0.617000 4 11 1 1 1 1 0 MCC 4163 broad.mit.edu 37 5 112399787 112399787 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:112399787C>G ENST00000302475.4 - 12 2100 c.1537G>C c.(1537-1539)Gcc>Ccc p.A513P MCC_ENST00000408903.3_Missense_Mutation_p.A703P|MCC_ENST00000515367.2_Missense_Mutation_p.A450P|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 513 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) AGGGCCTTGGCAGCGTTCTCA 0.612000 31 62 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100779081 100779081 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:100779081A>T ENST00000358544.2 + 40 7316 c.7205A>T c.(7204-7206)aAa>aTa p.K2402I VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K2377I NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2402 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) TCTGAAAGCAAAGTTTGTGAA 0.348000 33 72 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24432712 24432712 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:24432712T>C ENST00000355123.4 - 35 4891 c.4448A>G c.(4447-4449)aAt>aGt p.N1483S ITSN2_ENST00000361999.3_Missense_Mutation_p.N1456S NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1483 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAATTGAGCATTGGACTTCGA 0.478000 22 126 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54347964 54347964 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:54347964C>A ENST00000306888.2 - 6 1371 c.1120G>T c.(1120-1122)Gac>Tac p.D374Y FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.D470Y NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 470 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGAAAGATGTCAGGGCTCCGC 0.612000 8 61 0.00307968 0.00322281 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141272280 141272280 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:141272280C>A ENST00000389484.3 - 51 9182 c.8211G>T c.(8209-8211)tgG>tgT p.W2737C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2737 LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATCACAAATCCAATGCTTAG 0.358000 TSP Lung(27;0.18) 27 81 4.87955e-14 7.26211e-14 1 1 0 ITGA5 3678 broad.mit.edu 37 12 54805709 54805709 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:54805709G>T ENST00000293379.4 - 2 519 c.258C>A c.(256-258)agC>agA p.S86R RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ITGA5_ENST00000547744.1_5'UTR NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 86 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CTCCTGGCTGGCTGGTATTAG 0.587000 8 25 7.48243e-07 8.67564e-07 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248684954 248684954 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248684954G>T ENST00000343414.4 + 1 39 c.7G>T c.(7-9)Gaa>Taa p.E3* NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAAATGGAGGAAACCAACAA 0.398000 46 143 1.47857e-17 2.34556e-17 1 1 0 KRBA2 124751 broad.mit.edu 37 17 8285499 8285499 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:8285499C>T ENST00000582471.1 - 2 180 c.130G>A c.(130-132)Gtg>Atg p.V44M RPL26_ENST00000584164.1_Missense_Mutation_p.V44M|RPL26_ENST00000578812.1_Missense_Mutation_p.V44M|RPL26_ENST00000583011.1_Missense_Mutation_p.V44M|RPL26_ENST00000582556.1_Missense_Mutation_p.V44M|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000293842.5_Missense_Mutation_p.V44M ATGGATCGCACGTTGTACTTC 0.448000 9 70 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42699941 42699941 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:42699941C>A ENST00000230882.4 + 6 645 c.455C>A c.(454-456)cCc>cAc p.P152H GHR_ENST00000357703.3_Missense_Mutation_p.P130H|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 152 Fibronectin type-III. 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCAGATCCACCCATTGCCCTC 0.413000 23 126 4.72057e-08 5.75037e-08 1 1 0 CTAG2 30848 broad.mit.edu 37 X 153880596 153880596 + Silent SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:153880596T>C ENST00000247306.4 - 2 642 c.579A>G c.(577-579)ggA>ggG p.G193G CTAG2_ENST00000369585.3_Intron NM_020994.3 NP_066274.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 193 centrosome central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCACCCATCTCCCTGGGCTC 0.587000 21 103 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 10 82 0 0 1 0 0 GJB2 2706 broad.mit.edu 37 13 20763172 20763172 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:20763172G>T ENST00000382844.1 - 1 747 c.549C>A c.(547-549)tcC>tcA p.S183S GJB2_ENST00000382848.4_Silent_p.S183S P29033 CXB2_HUMAN gap junction protein, beta 2, 26kDa 183 cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport connexon complex|ER-Golgi intermediate compartment|integral to membrane breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738) CCGTGGGCCGGGACACAAAGC 0.488000 Keratitis, Ichthyosis and Deafness syndrome 17 29 2.48551e-13 3.59934e-13 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70948947 70948947 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:70948947C>A ENST00000334414.6 - 20 5180 c.5136G>T c.(5134-5136)gaG>gaT p.E1712D PTPRB_ENST00000538708.1_Missense_Mutation_p.E1404D|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1404D|PTPRB_ENST00000261266.5_Missense_Mutation_p.E1494D|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1624D|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1404D NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1494 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TACCATCAGCCTCTCTCACCA 0.433000 17 74 4.96729e-08 6.02986e-08 1 1 0 RPL10 6134 broad.mit.edu 37 X 153626736 153626736 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:153626736G>T ENST00000424325.2 + 1 165 c.e1+1 RPL10_ENST00000479366.1_Splice_Site|RPL10_ENST00000369817.2_Splice_Site NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTCGGTGTGGTGAGTAAGCG 0.557000 OREG0003599 type=REGULATORY REGION|Gene=RPL10|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 23 139 1.22574e-08 1.54156e-08 1 1 0 PDE4B 5142 broad.mit.edu 37 1 66833499 66833499 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:66833499A>T ENST00000423207.2 + 12 1945 c.1460A>T c.(1459-1461)cAg>cTg p.Q487L PDE4B_ENST00000329654.4_Missense_Mutation_p.Q502L|PDE4B_ENST00000371045.5_Missense_Mutation_p.Q330L|PDE4B_ENST00000480109.2_Missense_Mutation_p.Q269L|PDE4B_ENST00000371049.3_Missense_Mutation_p.Q502L NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 502 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) ACCAAGAAGCAGCGTCAGACA 0.398000 36 161 0 0 1 0 0 CTSK 1513 broad.mit.edu 37 1 150776578 150776578 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:150776578C>A ENST00000271651.3 - 5 647 c.537G>T c.(535-537)ggG>ggT p.G179G CTSK_ENST00000480670.1_5'UTR NM_000396.3 NP_000387.1 P43235 CATK_HUMAN cathepsin K 179 proteolysis lysosome cysteine-type endopeptidase activity|protein binding cervix(1)|endometrium(1)|lung(4)|skin(1) 7 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCATGTAGCCCCCTCCACAGC 0.498000 53 155 6.3091e-27 1.14981e-26 1 1 0 OTUD6A 139562 broad.mit.edu 37 X 69283069 69283069 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:69283069C>A ENST00000338352.2 + 1 729 c.695C>A c.(694-696)cCc>cAc p.P232H NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 232 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CTGAAGACCCCCATCGAGGTG 0.612000 10 54 0.361761 0.36228 1 1 0 CSMD2 114784 broad.mit.edu 37 1 34090807 34090807 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:34090807G>T ENST00000373381.4 - 34 5520 c.5344C>A c.(5344-5346)Cgc>Agc p.R1782S CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R655S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1742 Sushi 10. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TTGCCATAGCGGGGTTCCGGC 0.652000 10 28 6.40141e-05 6.99246e-05 1 1 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253724 32253724 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr21:32253724G>T ENST00000332378.4 - 1 150 c.120C>A c.(118-120)atC>atA p.I40I NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 40 keratin filament structural molecule activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 TGGGCAAACAGATGCCGCCCA 0.572000 34 77 6.84511e-11 9.2955e-11 1 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72509717 72509717 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:72509717C>A ENST00000373208.1 + 16 2412 c.2412C>A c.(2410-2412)ccC>ccA p.P804P ADAMTS14_ENST00000373207.1_Silent_p.P801P NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 801 Spacer. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CCAGCGGGCCCCTGCCTGAAG 0.642000 16 37 6.94344e-10 9.00841e-10 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99762419 99762419 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:99762419C>A ENST00000370185.3 + 3 1031 c.534C>A c.(532-534)ttC>ttA p.F178L LPPR4_ENST00000457765.1_Missense_Mutation_p.F178L NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 178 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CTGTCAGATTCGTTGGTGGGT 0.383000 31 81 1.55811e-20 2.57716e-20 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10469545 10469545 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:10469545C>A ENST00000382483.3 - 4 2286 c.2063G>T c.(2062-2064)aGg>aTg p.R688M NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 688 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTCAGGAGGCCTCGGCACTTG 0.627000 11 77 1.08611e-07 1.29812e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179593275 179593275 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:179593275C>A ENST00000589042.1 - 66 19602 c.19378G>T c.(19378-19380)Gaa>Taa p.E6460* TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.E6143*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E5216*|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6143 Ig-like 46. 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) AAGTCATTTTCCACCTTGAAA 0.408000 13 24 4.36969e-10 5.70102e-10 1 1 0 PIGO 84720 broad.mit.edu 37 9 35095117 35095117 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:35095117G>A ENST00000378617.3 - 2 840 c.446C>T c.(445-447)gCt>gTt p.A149V PIGO_ENST00000361778.2_Missense_Mutation_p.A149V|PIGO_ENST00000341666.3_Missense_Mutation_p.A149V|PIGO_ENST00000298004.5_Missense_Mutation_p.A149V NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 149 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTTACTACCAGCATCAATAAA 0.557000 16 101 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151234689 151234689 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:151234689G>T ENST00000274576.4 - 6 901 c.609C>A c.(607-609)gcC>gcA p.A203A GLRA1_ENST00000545569.1_Silent_p.A120A|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.A203A NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 203 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTACCTGCACGGCTCCCTGTT 0.488000 68 84 6.00099e-30 1.11401e-29 1 1 0 N4BP3 23138 broad.mit.edu 37 5 177546595 177546595 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:177546595C>T ENST00000274605.5 + 2 370 c.11C>T c.(10-12)gCc>gTc p.A4V NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 4 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGGCCACAGCCCCAGGCCCT 0.642000 29 33 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127785970 127785970 + Silent SNP G G T rs138437267 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:127785970G>T ENST00000243253.3 + 9 1135 c.951G>T c.(949-951)ctG>ctT p.L317L SEC61A1_ENST00000464451.1_Silent_p.L323L|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Silent_p.L197L|SEC61A1_ENST00000483956.1_3'UTR NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 317 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 GCAACTTGCTGGTCAGCCTGC 0.507000 24 176 6.36457e-07 7.42888e-07 1 1 0 DST 667 broad.mit.edu 37 6 56484938 56484938 + Silent SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:56484938A>T ENST00000370765.6 - 23 4001 c.3894T>A c.(3892-3894)ctT>ctA p.L1298L DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 4950 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTGAAATGCAAGGTCTTTTT 0.323000 25 48 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 229046291 229046291 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:229046291C>T ENST00000392056.3 - 1 70 c.24G>A c.(22-24)tcG>tcA p.S8S SPHKAP_ENST00000344657.5_Silent_p.S8S NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 8 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACCTTGGTACCGAGAGCAGGG 0.557000 27 188 0 0 1 0 0 GABRD 2563 broad.mit.edu 37 1 1961674 1961674 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:1961674G>T ENST00000378585.4 + 9 1395 c.1312G>T c.(1312-1314)Gcg>Tcg p.A438S NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 438 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GTTCCCTGCGGCGTTTGCGGC 0.682000 27 65 3.69857e-22 6.29658e-22 1 1 0 SRP72 6731 broad.mit.edu 37 4 57350927 57350927 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:57350927C>G ENST00000342756.5 + 10 1704 c.983C>G c.(982-984)gCc>gGc p.A328G SRP72_ENST00000510663.1_Missense_Mutation_p.A267G NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 328 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) AAAATATCTGCCAGTTTACAG 0.423000 27 140 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192336 152192336 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:152192336C>T ENST00000368801.2 - 3 1844 c.1769G>A c.(1768-1770)cGc>cAc p.R590H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 590 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCTGAGCGAGACTCTTG 0.557000 108 363 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111797686 111797686 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:111797686C>A ENST00000452346.2 + 17 2325 c.2322C>A c.(2320-2322)ctC>ctA p.L774L TMPRSS7_ENST00000419127.1_Silent_p.L648L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 774 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CTCGGATGCTCTGTGCAGGCA 0.468000 19 79 8.00594e-06 9.05696e-06 1 1 0 OR5M3 219482 broad.mit.edu 37 11 56237295 56237295 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:56237295G>A ENST00000312240.2 - 1 719 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TCTGCTGAGCGCATTCGCAGA 0.418000 17 101 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236143209 236143209 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:236143209G>T ENST00000264187.6 - 18 3504 c.3422C>A c.(3421-3423)cCc>cAc p.P1141H NID1_ENST00000366595.3_Missense_Mutation_p.P1008H NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1141 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCGTCTGCTGGGCTGACTGGG 0.498000 21 60 8.10497e-08 9.75392e-08 1 1 0 CDH20 28316 broad.mit.edu 37 18 59170188 59170188 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:59170188G>T ENST00000262717.4 + 5 1062 c.664G>T c.(664-666)Gta>Tta p.V222L CDH20_ENST00000536675.2_Missense_Mutation_p.V222L|CDH20_ENST00000538374.1_Missense_Mutation_p.V222L Q9HBT6 CAD20_HUMAN cadherin 20, type 2 222 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TCCTCCAGGTGTAATTAGGAC 0.428000 OREG0025026 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 60 2.32416e-17 3.66199e-17 1 1 0 GRM5 2915 broad.mit.edu 37 11 88583080 88583080 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:88583080A>G ENST00000418177.2 - 3 1272 c.905T>C c.(904-906)cTg>cCg p.L302P GRM5_ENST00000393297.1_Missense_Mutation_p.L302P|GRM5_ENST00000455756.2_Missense_Mutation_p.L302P|GRM5_ENST00000305447.4_Missense_Mutation_p.L302P|GRM5_ENST00000305432.5_Missense_Mutation_p.L302P P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 302 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCACCTGCCCAGAAGCAGAAA 0.488000 31 114 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511215 169511215 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:169511215G>T ENST00000367796.3 - 13 3329 c.3128C>A c.(3127-3129)aCa>aAa p.T1043K F5_ENST00000367797.3_Missense_Mutation_p.T1038K P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1038 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGCATGGTGTGTGTGCTTCTC 0.398000 95 288 3.29526e-42 6.46093e-42 1 1 0 DAB1 1600 broad.mit.edu 37 1 57476405 57476405 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:57476405G>T ENST00000371236.2 - 14 1894 c.1631C>A c.(1630-1632)cCc>cAc p.P544H DAB1_ENST00000371231.1_Missense_Mutation_p.P577H|DAB1_ENST00000371234.4_Missense_Mutation_p.P544H|DAB1_ENST00000414851.2_Missense_Mutation_p.P526H|DAB1_ENST00000420954.2_Missense_Mutation_p.P542H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P458H O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 577 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 ATCACCACTGGGCTCCCCACT 0.448000 17 147 6.33239e-15 9.62964e-15 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60590276 60590276 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:60590276C>A ENST00000400324.4 - 6 850 c.630G>T c.(628-630)tgG>tgT p.W210C DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.W199C|DIAPH3_ENST00000400319.1_Missense_Mutation_p.W140C|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400330.1_Missense_Mutation_p.W210C|DIAPH3_ENST00000400320.1_Missense_Mutation_p.W164C|DIAPH3_ENST00000267215.4_Missense_Mutation_p.W210C NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 210 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AGCTTTCCACCCAACTGAAAA 0.299000 7 22 0.000274275 0.000294077 1 1 0 TCTN1 79600 broad.mit.edu 37 12 111066806 111066806 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:111066806C>T ENST00000550703.2 + 4 863 c.707C>T c.(706-708)aCt>aTt p.T236I TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000377654.3_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000551590.1_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 0 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 ACCAGGAAAACTGGGTTCCTT 0.323000 12 29 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106840727 106840727 + Nonsense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:106840727C>T ENST00000276185.4 + 15 1717 c.1717C>T c.(1717-1719)Cag>Tag p.Q573* Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 573 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AAGGAAGGAGCAGGAAAGCCG 0.572000 8 98 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155264 22155264 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:22155264C>A ENST00000397126.4 - 4 2720 c.2572G>T c.(2572-2574)Gag>Tag p.E858* ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGGGTTTCTCTCCAGTATGA 0.378000 33 77 4.3181e-19 6.96082e-19 1 1 0 SNORD113-6 767566 broad.mit.edu 37 14 101405914 101405914 + RNA SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:101405914G>T ENST00000363345.2 + 0 22 NR_003234.1 TGAATATCATGGGGTTTCTGA 0.358000 11 51 3.86212e-05 4.22533e-05 1 1 0 OR6B3 150681 broad.mit.edu 37 2 240984704 240984704 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:240984704G>T ENST00000319423.4 - 1 785 c.786C>A c.(784-786)ccC>ccA p.P262P NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) CAATGGCCTGGGGCCGGACAT 0.542000 37 114 9.17885e-22 1.54382e-21 1 1 0 DSG3 1830 broad.mit.edu 37 18 29044073 29044073 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:29044073G>T ENST00000257189.4 + 9 1082 c.e9-1 NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTTTTCTCCAGGCTCTAGATT 0.378000 22 43 7.41877e-09 9.38184e-09 1 1 0 EPHB6 2051 broad.mit.edu 37 7 142564291 142564291 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:142564291G>T ENST00000392957.2 + 10 2302 c.1515G>T c.(1513-1515)acG>acT p.T505T EPHB6_ENST00000411471.2_Silent_p.T228T|EPHB6_ENST00000442129.1_Silent_p.T505T NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 505 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) ACAGCATCACGGTGTCCTGGC 0.587000 42 119 8.16277e-20 1.33434e-19 1 1 0 RYR3 6263 broad.mit.edu 37 15 34078083 34078083 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:34078083G>C ENST00000389232.4 + 66 9559 c.9489G>C c.(9487-9489)aaG>aaC p.K3163N RYR3_ENST00000415757.3_Missense_Mutation_p.K3163N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3163 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTGCACCAAGGTCACCTCTG 0.552000 80 157 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22149804 22149804 + Translation_Start_Site SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:22149804A>T ENST00000389397.4 + 0 2359 VWA3A_ENST00000389398.5_Missense_Mutation_p.R755W A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CTGCCCTCCCAGGCCCACCGT 0.512000 16 15 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431501 38431501 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:38431501C>A ENST00000356264.2 - 19 1941 c.1726G>T c.(1726-1728)Ggc>Tgc p.G576C AMPH_ENST00000428293.2_Missense_Mutation_p.G534C|AMPH_ENST00000325590.5_Missense_Mutation_p.G534C NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 576 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 CTGGTGGGGCCCGGAGGAGCC 0.617000 21 38 7.45023e-12 1.04005e-11 1 1 0 TAS2R1 50834 broad.mit.edu 37 5 9629909 9629909 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:9629909G>A ENST00000382492.2 - 1 554 c.236C>T c.(235-237)tCt>tTt p.S79F CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 79 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 ACAATTCGCAGAACACATGAT 0.398000 6 61 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135399 55135399 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:55135399C>A ENST00000314706.3 + 1 40 c.40C>A c.(40-42)Cct>Act p.P14T NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TATCACTGACCCTTTTGTTTG 0.433000 9 52 0.00448238 0.00466275 1 1 0 USP33 23032 broad.mit.edu 37 1 78187554 78187554 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:78187554T>A ENST00000370793.1 - 15 2058 c.1712A>T c.(1711-1713)gAt>gTt p.D571V USP33_ENST00000357428.1_Missense_Mutation_p.D571V|USP33_ENST00000370794.3_Missense_Mutation_p.D540V|USP33_ENST00000370792.3_Missense_Mutation_p.D563V NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 571 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AGCAAGACAATCTTGCAAGGT 0.368000 4 58 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42734578 42734578 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:42734578G>T ENST00000441594.1 - 11 1642 c.1381C>A c.(1381-1383)Cta>Ata p.L461I HHATL_ENST00000310417.5_Missense_Mutation_p.L461I NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 461 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) CCTGTGAGTAGCAGGCGCCGG 0.567000 62 132 1.05635e-38 2.05385e-38 1 1 0 TBC1D25 4943 broad.mit.edu 37 X 48399815 48399815 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:48399815C>A ENST00000376771.4 + 2 559 c.218C>A c.(217-219)gCc>gAc p.A73D TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_Missense_Mutation_p.A73D|TBC1D25_ENST00000537536.1_5'UTR NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 73 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CTCATCCGAGCCTTTGATTTG 0.547000 31 179 1.22384e-17 1.94587e-17 1 1 0 UCK2 7371 broad.mit.edu 37 1 165872471 165872471 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:165872471G>T ENST00000367879.4 + 5 855 c.552G>T c.(550-552)caG>caT p.Q184H UCK2_ENST00000479872.1_3'UTR|UCK2_ENST00000372212.4_3'UTR NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 184 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TTTTATCTCAGTACATTACGT 0.403000 36 107 9.39024e-22 1.57557e-21 1 1 0 GZMB 3002 broad.mit.edu 37 14 25102224 25102224 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:25102224A>T ENST00000216341.4 - 2 206 c.100T>A c.(100-102)Tac>Aac p.Y34N RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Missense_Mutation_p.Y68N|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.Y22N|GZMB_ENST00000382540.1_Missense_Mutation_p.Y34N|GZMB_ENST00000526004.1_Missense_Mutation_p.Y34N P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 34 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) TAAGCCATGTAGGGGCGGGAG 0.572000 21 154 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228210416 228210416 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:228210416C>T ENST00000284523.1 + 2 198 c.120C>T c.(118-120)atC>atT p.I40I WNT3A_ENST00000366753.2_Silent_p.I40I NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 40 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) CGCAGCCCATCCTGTGTGCCA 0.637000 15 52 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117719076 117719076 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:117719076A>T ENST00000276204.6 + 16 1865 c.1791A>T c.(1789-1791)ttA>ttT p.L597F DOCK11_ENST00000276202.7_Missense_Mutation_p.L597F|DOCK11_ENST00000498252.1_3'UTR Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 597 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 CTGTGGATTTATCAAGTAAGA 0.333000 12 60 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42761242 42761242 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:42761242A>T ENST00000379274.2 + 14 1617 c.1188A>T c.(1186-1188)aaA>aaT p.K396N DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.K396N|DGKH_ENST00000337343.4_Missense_Mutation_p.K532N|DGKH_ENST00000261491.4_Missense_Mutation_p.K532N|DGKH_ENST00000540693.1_Missense_Mutation_p.K532N|DGKH_ENST00000538674.1_Missense_Mutation_p.K287N Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 532 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CGTATGACAAAACCTTGGAAA 0.413000 18 95 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120053651 120053651 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:120053651G>T ENST00000313400.4 - 2 684 c.584C>A c.(583-585)tCg>tAg p.S195* ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.S195*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.S195* O75129 ASTN2_HUMAN astrotactin 2 195 integral to membrane p.S195L(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AACAATCTCCGAGGGCTCCTG 0.612000 23 38 2.39556e-15 3.68305e-15 1 1 0 DPP6 1804 broad.mit.edu 37 7 154561196 154561196 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:154561196T>C ENST00000404039.1 + 9 1348 c.761T>C c.(760-762)aTc>aCc p.I254T DPP6_ENST00000427557.1_Missense_Mutation_p.I211T|DPP6_ENST00000332007.3_Missense_Mutation_p.I256T|DPP6_ENST00000377770.3_Missense_Mutation_p.I318T NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 318 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TACGCCGCCATCAATGATTCC 0.532000 10 82 0 0 1 0 0 C20orf197 284756 broad.mit.edu 37 20 58645033 58645033 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:58645033G>T ENST00000313426.1 + 3 310 c.4G>T c.(4-6)Gtt>Ttt p.V2F NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 2 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) GGTTCTGATGGTTGCCCTGTT 0.562000 9 49 1.76689e-08 2.20625e-08 1 1 0 AKR1B10 57016 broad.mit.edu 37 7 134216769 134216769 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:134216769G>T ENST00000359579.4 + 3 664 c.344G>T c.(343-345)gGa>gTa p.G115V AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 115 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGGCCACAGGGATTCAAGGTT 0.507000 83 231 9.43608e-27 1.71075e-26 1 1 0 GPR25 2848 broad.mit.edu 37 1 200842960 200842960 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:200842960C>A ENST00000304244.2 + 1 878 c.795C>A c.(793-795)gcC>gcA p.A265A NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 265 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 CCCTGCGGGCCGTCTTCCACC 0.716000 16 40 1.3612e-06 1.57305e-06 1 1 0 SP140L 93349 broad.mit.edu 37 2 231256883 231256883 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:231256883G>T ENST00000243810.6 + 12 1046 c.1046G>T c.(1045-1047)aGa>aTa p.R349I SP140L_ENST00000444636.1_Missense_Mutation_p.R349I|SP140L_ENST00000396563.4_Missense_Mutation_p.R314I|SP140L_ENST00000415673.2_Missense_Mutation_p.R349I Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 349 SAND. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GGCTACGCAAGATCAAAGAAC 0.512000 20 68 1.00905e-13 1.48277e-13 1 1 0 KIAA0226 9711 broad.mit.edu 37 3 197430492 197430492 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:197430492G>A ENST00000273582.5 - 5 862 c.317C>T c.(316-318)aCg>aTg p.T106M KIAA0226_ENST00000449205.1_Missense_Mutation_p.T166M|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T166M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.T166M NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 166 RUN. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) CAGCATGGCCGTGACATGAGC 0.562000 22 38 0 0 1 0 0 CHTOP 26097 broad.mit.edu 37 1 153615794 153615794 + Silent SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:153615794G>C ENST00000368694.3 + 5 807 c.495G>C c.(493-495)ggG>ggC p.G165G CHTOP_ENST00000368687.1_Silent_p.G140G|CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000368690.3_Intron|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000495554.1_Intron NM_001206612.1|NM_015607.3 NP_001193541.1|NP_056422.2 Q9Y3Y2 CHTOP_HUMAN chromatin target of PRMT1 165 Arg/Gly-rich.|Interaction with PRMT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6) 13 CTGGGAGAGGGGGCCTAGGGC 0.572000 32 206 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204723 66204723 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:66204723C>A ENST00000503581.1 - 4 1118 c.581G>T c.(580-582)tGg>tTg p.W194L EYS_ENST00000370621.3_Missense_Mutation_p.W194L|EYS_ENST00000370618.3_Missense_Mutation_p.W194L|EYS_ENST00000393380.2_Missense_Mutation_p.W194L|EYS_ENST00000342421.5_Missense_Mutation_p.W194L|EYS_ENST00000370616.2_Missense_Mutation_p.W194L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 194 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGTCTTGCTCCAAGCTTCACT 0.418000 19 42 3.51602e-12 4.93799e-12 1 1 0 ZRANB2 9406 broad.mit.edu 37 1 71544196 71544196 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:71544196C>T ENST00000370920.3 - 3 463 c.162G>A c.(160-162)aaG>aaA p.K54K ZRANB2_ENST00000254821.6_Silent_p.K54K NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 54 mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 CTGCAAGTGTCTTTCCTATTT 0.353000 29 170 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25416101 25416101 + Missense_Mutation SNP C C T rs149749991 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:25416101C>T ENST00000315368.3 + 24 1841 c.1699C>T c.(1699-1701)Cgt>Tgt p.R567C ANAPC4_ENST00000510092.1_Missense_Mutation_p.R568C NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 567 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) GGATTCTACACGTAGATTGTT 0.289000 6 25 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525017 248525017 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248525017C>A ENST00000366475.1 + 1 135 c.135C>A c.(133-135)atC>atA p.I45I NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGGATTTCATCCTGTTGGGAC 0.473000 25 151 1.77063e-15 2.74036e-15 1 1 0 BAZ1B 9031 broad.mit.edu 37 7 72861646 72861646 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:72861646C>T ENST00000339594.4 - 16 4130 c.3792G>A c.(3790-3792)gaG>gaA p.E1264E BAZ1B_ENST00000404251.1_Silent_p.E1264E NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1264 Poly-Glu. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) cttcttcctcctcctcctctt 0.423000 20 125 0 0 1 0 0 MED6 10001 broad.mit.edu 37 14 71063417 71063417 + Missense_Mutation SNP T T G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:71063417T>G ENST00000256379.5 - 3 214 c.185A>C c.(184-186)cAg>cCg p.Q62P MED6_ENST00000556044.1_Splice_Site|MED6_ENST00000554963.1_Missense_Mutation_p.Q62P|MED6_ENST00000440435.2_Missense_Mutation_p.Q62P|MED6_ENST00000430055.2_Missense_Mutation_p.Q62P|CTD-2540L5.5_ENST00000553982.1_lincRNA NM_005466.2 NP_005457.2 O75586 MED6_HUMAN mediator complex subunit 6 62 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) TCCAACCATCTGACTGAAAAC 0.378000 6 33 0 0 1 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28476604 28476604 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:28476604G>T ENST00000383768.2 + 4 524 c.336G>T c.(334-336)tgG>tgT p.W112C ZCWPW2_ENST00000421010.1_Missense_Mutation_p.W112C Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 112 PWWP. zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 TTGAAAGTTGGCCAGGAATAC 0.358000 28 55 3.65163e-15 5.58955e-15 1 1 0 LPPR4 9890 broad.mit.edu 37 1 99771274 99771274 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:99771274G>A ENST00000370185.3 + 7 1497 c.1000G>A c.(1000-1002)Gat>Aat p.D334N LPPR4_ENST00000457765.1_Missense_Mutation_p.D276N|LPPR4_ENST00000370184.1_Missense_Mutation_p.D176N NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 334 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCTGCCCAGTGATGAGAGTAT 0.448000 51 102 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88924446 88924446 + Missense_Mutation SNP G G A rs61754375 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:88924446G>A ENST00000263321.5 + 2 1398 c.896G>A c.(895-897)cGt>cAt p.R299H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 299 R -> H (in OCA1A).|R -> S (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CCTTTACGGCGTAATCCTGGA 0.468000 39 155 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112159498 112159498 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:112159498C>T ENST00000455480.2 + 9 1286 c.1109C>T c.(1108-1110)gCt>gTt p.A370V ACAD10_ENST00000549590.1_Missense_Mutation_p.A339V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Silent_p.L2L|ACAD10_ENST00000313698.4_Missense_Mutation_p.A339V NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 339 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CTTGCAAATGCTGGAGTACCT 0.373000 7 88 0 0 1 0 0 IL17RE 132014 broad.mit.edu 37 3 9956940 9956940 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:9956940G>A ENST00000454190.2 + 16 1611 c.1526G>A c.(1525-1527)gGg>gAg p.G509E IL17RE_ENST00000421412.1_Missense_Mutation_p.G518S|IL17RE_ENST00000295980.3_Missense_Mutation_p.G485S|IL17RE_ENST00000383814.3_Missense_Mutation_p.G485S NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 0 SEFIR. cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) ACCAGGCCCGGGCCCAGCGCG 0.721000 4 2 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49399951 49399951 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:49399951C>A ENST00000418115.1 - 4 770 c.386G>T c.(385-387)cGg>cTg p.R129L RHOA_ENST00000422781.1_Missense_Mutation_p.R129L|RHOA_ENST00000454011.2_Missense_Mutation_p.G89W NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 129 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding p.R129L(1) cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GGCTAGCTCCCGCCTTGTGTG 0.527000 53 117 1.63038e-21 2.7225e-21 1 1 0 PMS1 5378 broad.mit.edu 37 2 190719671 190719671 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:190719671G>T ENST00000441310.2 + 9 1906 c.1673G>T c.(1672-1674)gGa>gTa p.G558V PMS1_ENST00000447232.2_Missense_Mutation_p.G558V|PMS1_ENST00000409823.3_Missense_Mutation_p.G519V|PMS1_ENST00000432292.3_Missense_Mutation_p.G382V|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.G382V NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 558 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) AATAAATCTGGAAAAGTTACA 0.303000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 33 70 2.80507e-11 3.8241e-11 1 1 0 VASH1 22846 broad.mit.edu 37 14 77242449 77242449 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:77242449C>A ENST00000167106.4 + 5 1378 c.745C>A c.(745-747)Cgc>Agc p.R249S VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 249 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) CGCCTACGGCCGCTGCTGGCA 0.667000 4 28 0.00024832 0.00026748 1 1 0 CSMD3 114788 broad.mit.edu 37 8 114448905 114448905 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:114448905C>A ENST00000297405.5 - 1 423 c.e1+1 CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 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 AGCAGACCTACCTTTCACACA 0.473000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 91 228 1.45819e-31 2.73607e-31 1 1 0 LYST 1130 broad.mit.edu 37 1 235955264 235955264 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:235955264C>T ENST00000389794.3 - 12 4452 c.4278G>A c.(4276-4278)ttG>ttA p.L1426L LYST_ENST00000389793.2_Silent_p.L1426L|LYST_ENST00000536965.1_Intron Q99698 LYST_HUMAN lysosomal trafficking regulator 1426 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GTGCTCTTCTCAATAAACCCA 0.463000 72 205 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113740137 113740137 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:113740137G>T ENST00000512097.3 + 4 1603 c.585G>T c.(583-585)ttG>ttT p.L195F KCNN2_ENST00000264773.3_Missense_Mutation_p.L195F|KCNN2_ENST00000507750.1_Intron Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 195 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTTTTCAGTTGTTCATGGTGG 0.383000 23 80 1.64293e-13 2.39409e-13 1 1 0 OR8U1 219417 broad.mit.edu 37 11 56143220 56143220 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:56143220G>A ENST00000302270.1 + 1 121 c.121G>A c.(121-123)Ggc>Agc p.G41S NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CACAGTGGTAGGCAACTTGGG 0.448000 28 200 0 0 1 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429107 23429107 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:23429107G>A ENST00000519973.1 + 4 954 c.756G>A c.(754-756)acG>acA p.T252T NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 252 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CGGCCGCCACGACCCCCCTGG 0.662000 4 25 0 0 1 0 0 MYO19 80179 broad.mit.edu 37 17 34869519 34869519 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:34869519T>A ENST00000431794.3 - 10 1292 c.770A>T c.(769-771)gAg>gTg p.E257V MYO19_ENST00000544606.1_Missense_Mutation_p.E123V|MYO19_ENST00000268852.9_Missense_Mutation_p.E257V|MYO19_ENST00000586007.1_Missense_Mutation_p.E257V NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 257 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGCAGCTCCCTCAGGAAGGTG 0.607000 8 14 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65358034 65358034 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:65358034C>T ENST00000309295.4 + 16 4519 c.4254C>T c.(4252-4254)ctC>ctT p.L1418L NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 1418 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 AGAACGCTCTCATCCGGAGGC 0.572000 6 55 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39734045 39734045 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:39734045C>A ENST00000395670.3 - 16 2651 c.2232G>T c.(2230-2232)agG>agT p.R744S KIF21A_ENST00000541463.2_Missense_Mutation_p.R731S|KIF21A_ENST00000544797.2_Missense_Mutation_p.R731S|KIF21A_ENST00000361961.3_Missense_Mutation_p.R731S|KIF21A_ENST00000361418.5_Missense_Mutation_p.R744S Q7Z4S6 KI21A_HUMAN kinesin family member 21A 744 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTTTAAGCAACCTTGCATGTT 0.328000 13 39 1.5842e-08 1.98523e-08 1 1 0 ULK1 8408 broad.mit.edu 37 12 132396624 132396624 + Silent SNP G G T rs143274719 byFrequency TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:132396624G>T ENST00000321867.4 + 13 1437 c.1086G>T c.(1084-1086)gcG>gcT p.A362A NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 362 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGGTCCCCGCGCAGTTTCCAG 0.622000 5 19 3.59834e-05 3.94912e-05 1 1 0 LRRC6 23639 broad.mit.edu 37 8 133584700 133584700 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:133584700C>A ENST00000519595.1 - 12 1353 c.1255G>T c.(1255-1257)Gac>Tac p.D419Y LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.D419Y Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 419 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTGCTAGGGTCTACTTCTAGT 0.373000 34 149 2.08457e-15 3.21198e-15 1 1 0 BARD1 580 broad.mit.edu 37 2 215645722 215645722 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:215645722C>T ENST00000260947.4 - 4 1010 c.876G>A c.(874-876)aaG>aaA p.K292K BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Silent_p.K148K NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 292 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATTCCTGCTCTTAGTGTCTG 0.388000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 24 110 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77147245 77147245 + Missense_Mutation SNP A A C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:77147245A>C ENST00000461745.1 + 2 1042 c.142A>C c.(142-144)Acg>Ccg p.T48P ROBO2_ENST00000487694.3_Missense_Mutation_p.T64P|ROBO2_ENST00000332191.8_Missense_Mutation_p.T48P NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 48 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGGCGAGCCCACGACTCTGAA 0.587000 8 50 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95172198 95172198 + Splice_Site SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:95172198C>T ENST00000027335.3 - 12 1676 c.e12+1 CDH17_ENST00000441892.2_Splice_Site|CDH17_ENST00000450165.2_Splice_Site NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GGGCTATTTACCTTTTTAATT 0.378000 20 67 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81374423 81374423 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:81374423G>T ENST00000222390.5 - 6 865 c.639C>A c.(637-639)acC>acA p.T213T HGF_ENST00000444829.2_Silent_p.T213T|HGF_ENST00000457544.2_Silent_p.T208T|HGF_ENST00000453411.1_Silent_p.T208T NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 213 Kringle 2. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CCCCATTGCAGGTCATGCATT 0.408000 39 45 1.03484e-13 1.51747e-13 1 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74507088 74507088 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:74507088G>T ENST00000354431.4 - 7 1718 c.1527C>A c.(1525-1527)tcC>tcA p.S509S LRRIQ3_ENST00000395089.1_Silent_p.S509S NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 509 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AAGCCTTTTGGGATTTTTCTT 0.363000 38 128 1.07637e-12 1.53327e-12 1 1 0 JAK3 3718 broad.mit.edu 37 19 17942126 17942126 + Silent SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:17942126G>C ENST00000458235.1 - 21 2988 c.2889C>G c.(2887-2889)gtC>gtG p.V963V JAK3_ENST00000534444.1_Silent_p.V963V|JAK3_ENST00000527670.1_Silent_p.V963V NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 963 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CAGCGATCTTGACGTGTGCCT 0.657000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 25 115 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240256553 240256553 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:240256553C>G ENST00000319653.9 + 1 1374 c.1144C>G c.(1144-1146)Ccg>Gcg p.P382A NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 382 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GGGGGAAGAGCCGGAGGAGGA 0.726000 5 15 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389736 56389736 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:56389736C>A ENST00000355701.3 - 17 3316 c.2446G>T c.(2446-2448)Gag>Tag p.E816* BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.E816*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E756* NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 816 Fibronectin type-III 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCACTTGCTCAGGAGGCGGC 0.687000 9 16 4.68919e-08 5.72212e-08 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51824738 51824738 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:51824738G>A ENST00000371117.3 - 36 6113 c.5838C>T c.(5836-5838)gtC>gtT p.V1946V PKHD1_ENST00000340994.4_Silent_p.V1946V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1946 G8 1. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TCTCCACTGTGACGTTGTCGC 0.463000 OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 131 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9009398 9009398 + Silent SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:9009398A>G ENST00000377443.2 + 2 160 c.156A>G c.(154-156)ctA>ctG p.L52L CA6_ENST00000319474.2_Silent_p.L52L|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Silent_p.L52L NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 52 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) CTATCAACCTACAGAGGACGA 0.577000 4 44 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19780715 19780715 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:19780715A>T ENST00000269216.3 + 7 1994 c.1717A>T c.(1717-1719)Agt>Tgt p.S573C GATA6_ENST00000581694.1_Missense_Mutation_p.S573C|RP11-627G18.1_ENST00000583442.1_RNA NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 573 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CATAGGCGTCAGTCTCGCCTC 0.672000 17 38 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45385002 45385002 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:45385002C>A ENST00000559488.1 + 14 2316 c.2301_splice c.e14+1 p.T767_splice ITGB3_ENST00000560629.1_Splice_Site_p.H755_splice|ITGB3_ENST00000435993.2_Splice_Site_p.T720_splice|RP11-290H9.4_ENST00000575039.1_RNA NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 767 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) AAATGGGACACAGTAAGAGAC 0.512000 4 31 0.00909568 0.00930907 1 1 0 TTN 7273 broad.mit.edu 37 2 179593035 179593035 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:179593035C>A ENST00000589042.1 - 67 19740 c.19516G>T c.(19516-19518)Ggt>Tgt p.G6506C TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6189C|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5262C|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6189 Ig-like 46. 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) GGAAGTGAACCAGACACCTTG 0.393000 15 49 6.31663e-08 7.64126e-08 1 1 0 MARC2 54996 broad.mit.edu 37 1 220936352 220936352 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:220936352G>T ENST00000366913.3 + 4 908 c.710G>T c.(709-711)aGg>aTg p.R237M MARC2_ENST00000359316.2_Missense_Mutation_p.R237M NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 237 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GAGAATTTCAGGCCAAATATT 0.502000 14 66 2.31682e-05 2.56282e-05 1 1 0 TAF1 6872 broad.mit.edu 37 X 70612819 70612819 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:70612819G>A ENST00000449580.1 + 20 3074 c.3023G>A c.(3022-3024)cGt>cAt p.R1008H TAF1_ENST00000276072.3_Missense_Mutation_p.R1029H|TAF1_ENST00000423759.1_Missense_Mutation_p.R1029H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1008H P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1008 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CAACTTCTACGTAAATTTGGT 0.453000 35 238 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5042837 5042837 + Missense_Mutation SNP C C T rs61745111 byFrequency TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:5042837C>T ENST00000574788.1 + 22 3596 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000250066.6_Missense_Mutation_p.R456W|USP6_ENST00000332776.4_Missense_Mutation_p.R456W P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 456 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R456W(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTCAATGCCCCGGCTCCCAAC 0.612000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 6 85 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123217270 123217270 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:123217270G>T ENST00000371160.1 + 29 3214 c.e29-1 STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site Q8N3U4 STAG2_HUMAN stromal antigen 2 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTCCTTTGCAGAGATGGCATA 0.333000 9 69 9.70103e-10 1.25395e-09 1 1 0 LRRC7 57554 broad.mit.edu 37 1 70518717 70518717 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:70518717C>A ENST00000310961.5 + 23 4297 c.3879C>A c.(3877-3879)tcC>tcA p.S1293S LRRC7_ENST00000035383.5_Silent_p.S1335S|LRRC7_ENST00000415775.2_Silent_p.S619S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1335 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGACCCCGTCCCAGCAAAGCA 0.418000 50 120 2.0833e-19 3.39753e-19 1 1 0 XPO4 64328 broad.mit.edu 37 13 21396392 21396392 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:21396392G>T ENST00000400602.2 - 8 912 c.877C>A c.(877-879)Caa>Aaa p.Q293K XPO4_ENST00000255305.6_Missense_Mutation_p.Q293K NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 293 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGAGAATCTTGTGCCATATCT 0.403000 15 56 0.0202918 0.0207375 1 1 0 CAND1 55832 broad.mit.edu 37 12 67675717 67675717 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:67675717G>T ENST00000545606.1 + 2 533 c.96G>T c.(94-96)acG>acT p.T32T NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 32 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ATTTGATGACGGAACTGCAGA 0.264000 26 86 4.87955e-14 7.26211e-14 1 1 0 NEB 4703 broad.mit.edu 37 2 152579940 152579940 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:152579940G>C ENST00000397345.3 - 9 875 c.673C>G c.(673-675)Ccg>Gcg p.P225A NEB_ENST00000603639.1_Missense_Mutation_p.P225A|NEB_ENST00000409198.1_Missense_Mutation_p.P225A|NEB_ENST00000604864.1_Missense_Mutation_p.P225A|NEB_ENST00000427231.2_Missense_Mutation_p.P225A|NEB_ENST00000172853.10_Missense_Mutation_p.P225A NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 225 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCAGTTCCGGGCTATCATTA 0.443000 13 19 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508460 106508460 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:106508460C>A ENST00000359195.3 + 2 764 c.454C>A c.(454-456)Cgg>Agg p.R152R PIK3CG_ENST00000440650.2_Silent_p.R152R|PIK3CG_ENST00000496166.1_Silent_p.R152R NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 152 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AGCCTTCCAGCGGCAGCTCAC 0.667000 5 41 0.00198382 0.00208226 1 1 0 PPARD 5467 broad.mit.edu 37 6 35392494 35392494 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:35392494A>G ENST00000311565.4 + 8 1365 c.1016A>G c.(1015-1017)aAc>aGc p.N339S PPARD_ENST00000444397.1_Missense_Mutation_p.N339S|PPARD_ENST00000337400.2_Missense_Mutation_p.N339S|PPARD_ENST00000418635.2_Missense_Mutation_p.N241S|PPARD_ENST00000540939.1_Missense_Mutation_p.N236S|PPARD_ENST00000360694.3_Missense_Mutation_p.N339S|PPARD_ENST00000448077.2_Missense_Mutation_p.N300S NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 339 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GTCAAGTTCAACGCCCTGGAA 0.552000 14 34 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 213403195 213403195 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:213403195G>T ENST00000342788.4 - 1 370 c.60C>A c.(58-60)gtC>gtA p.V20V ERBB4_ENST00000436443.1_Silent_p.V20V|ERBB4_ENST00000402597.1_Silent_p.V20V NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 20 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V20V(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGCTGGGCTGGACGGTCCCCG 0.632000 TSP Lung(8;0.080) 25 98 7.38237e-10 9.5601e-10 1 1 0 DSCAM 1826 broad.mit.edu 37 21 41711343 41711343 + Splice_Site SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr21:41711343C>T ENST00000400454.1 - 7 1688 c.e7-1 NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 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) GGAGTTCCATCTGCAGGAAAA 0.413000 7 21 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 5997168 5997168 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:5997168T>A ENST00000303657.5 - 16 2065 c.1916A>T c.(1915-1917)cAc>cTc p.H639L CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.H639L|RFX2_ENST00000592546.1_Missense_Mutation_p.H614L NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GCGGATGAGGTGGAAGGAGCC 0.657000 12 29 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16552758 16552758 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:16552758C>A ENST00000380672.4 - 5 496 c.439G>T c.(439-441)Gat>Tat p.D147Y BNC2_ENST00000380666.2_Missense_Mutation_p.D147Y|BNC2_ENST00000545497.1_Missense_Mutation_p.D52Y|BNC2_ENST00000380667.2_Missense_Mutation_p.D80Y NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CTGAGCTTATCCAAGGCTGTG 0.512000 44 57 9.84934e-19 1.58042e-18 1 1 0 PORCN 64840 broad.mit.edu 37 X 48368223 48368223 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:48368223C>A ENST00000359882.4 + 2 194 c.15C>A c.(13-15)agC>agA p.S5R PORCN_ENST00000355092.3_Missense_Mutation_p.S5R|PORCN_ENST00000355961.4_Missense_Mutation_p.S5R|PORCN_ENST00000537758.1_Missense_Mutation_p.S5R|PORCN_ENST00000326194.6_Missense_Mutation_p.S5R|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000361988.3_Missense_Mutation_p.S5R Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 5 Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCACCTTTAGCCGCCAGGAAT 0.602000 6 38 8.12818e-05 8.85097e-05 1 1 0 CD96 10225 broad.mit.edu 37 3 111325562 111325562 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:111325562C>A ENST00000352690.4 + 8 1343 c.1103C>A c.(1102-1104)tCa>tAa p.S368* CD96_ENST00000438817.2_Nonsense_Mutation_p.S368*|CD96_ENST00000283285.5_Nonsense_Mutation_p.S384* NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 384 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GAAATTTCCTCAACAGACCCT 0.363000 Opitz Trigonocephaly syndrome 12 115 9.05144e-12 1.25855e-11 1 1 0 CCDC40 55036 broad.mit.edu 37 17 78055573 78055573 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:78055573C>T ENST00000397545.4 + 11 1818 c.1791C>T c.(1789-1791)ctC>ctT p.L597L CCDC40_ENST00000374877.3_Silent_p.L597L NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 597 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGATGCCCTCAGCCAGGACC 0.647000 14 28 0 0 1 0 0 MRPS27 23107 broad.mit.edu 37 5 71533893 71533893 + Missense_Mutation SNP T T A rs140284675 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:71533893T>A ENST00000261413.5 - 5 383 c.344A>T c.(343-345)cAg>cTg p.Q115L MRPS27_ENST00000457646.4_Missense_Mutation_p.Q59L|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.Q129L|MRPS27_ENST00000515404.1_Missense_Mutation_p.Q59L NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 115 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) TTTTAGACACTGCCTAATCCA 0.433000 20 60 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985237 140985237 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:140985237G>T ENST00000298296.1 + 7 1693 c.1693G>T c.(1693-1695)Gag>Tag p.E565* MAGEC3_ENST00000443323.2_Nonsense_Mutation_p.E187*|MAGEC3_ENST00000409007.1_Nonsense_Mutation_p.E267*|MAGEC3_ENST00000544766.1_Nonsense_Mutation_p.E267*|MAGEC3_ENST00000536088.1_Nonsense_Mutation_p.E267* NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 565 MAGE 2. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGTCCCCGAGGAGGTCAT 0.498000 27 154 2.41591e-17 3.79799e-17 1 1 0 SH3RF2 153769 broad.mit.edu 37 5 145379663 145379663 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:145379663C>A ENST00000511217.1 + 2 473 c.421C>A c.(421-423)Ccc>Acc p.P141T SH3RF2_ENST00000359120.4_Missense_Mutation_p.P141T Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 141 SH3 1. ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGGCAGAATCCCGGTGACCT 0.473000 42 38 1.02687e-29 1.89617e-29 1 1 0 CHRNG 1146 broad.mit.edu 37 2 233404810 233404810 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:233404810T>A ENST00000389494.3 + 2 185 c.164T>A c.(163-165)cTg>cAg p.L55Q CHRNG_ENST00000389492.3_Missense_Mutation_p.L55Q NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 55 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AATGTCAGCCTGAAGCTAACC 0.642000 15 36 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908063 164908063 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:164908063G>T ENST00000475390.1 - 2 999 c.556C>A c.(556-558)Ccc>Acc p.P186T SLITRK3_ENST00000241274.3_Missense_Mutation_p.P186T O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 186 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 GGAAGCATGGGGATGAGATTA 0.378000 HNSCC(40;0.11) 34 84 8.16721e-17 1.27819e-16 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113988287 113988287 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:113988287G>T ENST00000297405.5 - 7 1365 c.1121C>A c.(1120-1122)cCt>cAt p.P374H CSMD3_ENST00000352409.3_Missense_Mutation_p.P374H|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.P334H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 374 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 AACATCTGCAGGTGTGCTAGC 0.488000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 110 2.05212e-20 3.38624e-20 1 1 0 C20orf26 26074 broad.mit.edu 37 20 20140047 20140047 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:20140047G>T ENST00000245957.5 + 10 1061 c.985G>T c.(985-987)Gct>Tct p.A329S C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.A329S|C20orf26_ENST00000377306.1_Missense_Mutation_p.A329S|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 329 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ATCCGAGGAAGCTTTAACAGC 0.473000 7 74 0.00198382 0.00208226 1 1 0 LRRN2 10446 broad.mit.edu 37 1 204588911 204588911 + Silent SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:204588911G>C ENST00000367175.1 - 1 2422 c.210C>G c.(208-210)ggC>ggG p.G70G LRRN2_ENST00000367177.3_Silent_p.G70G|LRRN2_ENST00000367176.3_Silent_p.G70G O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 70 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGGTCTGTGTGCCTGCGGGGA 0.627000 16 75 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167045847 167045847 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:167045847A>T ENST00000392766.2 - 11 1085 c.745T>A c.(745-747)Tgt>Agt p.C249S ZBBX_ENST00000307529.5_Missense_Mutation_p.C249S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.C249S|ZBBX_ENST00000392764.1_Missense_Mutation_p.C220S|ZBBX_ENST00000392767.2_Missense_Mutation_p.C249S NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 249 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GACCCTTCACACAACAGACTC 0.363000 56 179 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532342 50532342 + Silent SNP T T G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:50532342T>G ENST00000374144.3 + 3 2040 c.1752T>G c.(1750-1752)tcT>tcG p.S584S C10orf71_ENST00000323868.4_Silent_p.S584S Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 584 endometrium(1) 1 GTGAGCCCTCTGCAGACAGCT 0.537000 9 38 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201009429 201009429 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:201009429G>A ENST00000362061.3 - 43 5526 c.5300C>T c.(5299-5301)cCc>cTc p.P1767L RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1748L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1767 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTGCTGTGGGGTGTCTCCTC 0.577000 9 16 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687276 21687276 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:21687276G>A ENST00000398485.2 + 2 541 c.487G>A c.(487-489)Ggg>Agg p.G163R PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.G139R NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 163 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CATTCTGCCCGGGGCCATCGG 0.642000 13 65 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553669 19553669 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:19553669G>A ENST00000409832.3 + 1 305 c.253G>A c.(253-255)Gac>Aac p.D85N NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 85 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CACTTCTGGAGACCACGACGA 0.597000 84 445 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171478 39171478 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:39171478C>T ENST00000297668.6 - 8 1294 c.1221G>A c.(1219-1221)ttG>ttA p.L407L CNTNAP3_ENST00000358144.2_Silent_p.L319L|CNTNAP3_ENST00000377659.1_Silent_p.L407L|CNTNAP3_ENST00000323947.7_Silent_p.L407L|CNTNAP3_ENST00000377656.2_Silent_p.L407L NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 407 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CGCCGAAAAGCAAATGTCCTG 0.507000 9 88 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159672374 159672374 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:159672374G>T ENST00000297267.9 + 17 5075 c.4875G>T c.(4873-4875)ccG>ccT p.P1625P FNDC1_ENST00000340366.6_Silent_p.P1562P NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1625 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CATCAGCCCCGTGCTCTCTGA 0.498000 9 31 2.17888e-05 2.41406e-05 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51171707 51171707 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:51171707G>T ENST00000293441.1 - 22 3528 c.3510C>A c.(3508-3510)cgC>cgA p.R1170R SHANK1_ENST00000391813.1_Silent_p.R557R|SHANK1_ENST00000359082.3_Silent_p.R1161R|SHANK1_ENST00000391814.1_Silent_p.R1178R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1170 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCTGGCTGCTGCGGCCGCTGC 0.776000 10 16 1.36491e-13 1.99729e-13 1 1 0 CMPK2 129607 broad.mit.edu 37 2 6991788 6991788 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:6991788G>A ENST00000256722.5 - 4 1018 c.1019C>T c.(1018-1020)gCc>gTc p.A340V CMPK2_ENST00000404168.1_Missense_Mutation_p.A340V|CMPK2_ENST00000458098.1_Intron|CMPK2_ENST00000478738.1_5'UTR NM_207315.3 NP_997198.2 Q5EBM0 CMPK2_HUMAN cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 340 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGTGGCTATGGCATAGGTGGC 0.562000 11 69 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134989090 134989090 + Missense_Mutation SNP A A C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:134989090A>C ENST00000535938.1 + 8 909 c.742A>C c.(742-744)Acc>Ccc p.T248P SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.T248P|SAGE1_ENST00000370709.3_Missense_Mutation_p.T248P NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 248 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TCCAGATGCTACCATCACTTA 0.443000 61 109 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57003807 57003807 + Missense_Mutation SNP G G C rs144399813 byFrequency TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:57003807G>C ENST00000606794.1 - 1 868 c.672C>G c.(670-672)atC>atG p.I224M NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 224 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGGTTTGGGCGATGAAGAAGT 0.622000 21 65 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357161 38357161 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:38357161T>A ENST00000379705.3 - 2 1167 c.310A>T c.(310-312)Atc>Ttc p.I104F TRPC4_ENST00000426868.2_Missense_Mutation_p.I104F|TRPC4_ENST00000379673.2_Missense_Mutation_p.I104F|TRPC4_ENST00000379679.1_Missense_Mutation_p.I104F|TRPC4_ENST00000379681.3_Missense_Mutation_p.I104F|TRPC4_ENST00000338947.5_Missense_Mutation_p.I104F|TRPC4_ENST00000358477.2_Missense_Mutation_p.I104F|TRPC4_ENST00000447043.1_Missense_Mutation_p.I104F|TRPC4_ENST00000355779.2_Missense_Mutation_p.I104F Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 104 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.I104F(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCTTTTCTGATAGCATGTAAT 0.363000 31 49 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059675 248059675 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248059675G>T ENST00000537741.1 + 3 1044 c.787G>T c.(787-789)Gga>Tga p.G263* OR2W3_ENST00000360358.3_Nonsense_Mutation_p.G263* Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CATGCAGCCAGGAGCCAGTTC 0.527000 39 105 2.26627e-22 3.86763e-22 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50094323 50094323 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:50094323C>T ENST00000376042.1 + 12 4342 c.4044C>T c.(4042-4044)ttC>ttT p.F1348F CCNB3_ENST00000348603.2_Silent_p.F244F|CCNB3_ENST00000276014.7_Silent_p.F1348F|CCNB3_ENST00000376038.1_Silent_p.F244F Q8WWL7 CCNB3_HUMAN cyclin B3 1348 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TGCTGACTTTCAGTTCTTACG 0.473000 85 217 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73041465 73041465 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:73041465C>A ENST00000604411.1 + 0 29426 XIST_ENST00000429829.1_lincRNA NR_003255.2 CAATTCAGAACAAAGGCAGGT 0.418000 9 21 0.0477658 0.0486013 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32635154 32635154 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:32635154C>A ENST00000242310.4 - 1 513 c.424G>T c.(424-426)Gac>Tac p.D142Y RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 142 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCATCATAGTCATCTTCATCA 0.478000 55 111 7.36392e-32 1.38919e-31 1 1 0 ZNF835 90485 broad.mit.edu 37 19 57176384 57176384 + Silent SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:57176384T>A ENST00000537055.2 - 2 414 c.183A>T c.(181-183)ccA>ccT p.P61P NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 ATATGGTTCTTGGGATTCGGC 0.622000 4 55 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936638 4936638 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:4936638C>G ENST00000322013.3 - 1 284 c.256G>C c.(256-258)Gtc>Ctc p.V86L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGCCCAGGACTGTAGGGAGA 0.483000 9 25 0 0 1 0 0 GNRHR 2798 broad.mit.edu 37 4 68606440 68606440 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:68606440G>A ENST00000420975.2 - 3 616 c.617C>T c.(616-618)aCt>aTt p.T206I RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000226413.4_Silent_p.L249L|RP11-453E17.1_ENST00000502758.1_RNA NM_001012763.1 NP_001012781.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 0 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) TTCAGTTGTAGTTCTGTTGGA 0.388000 43 272 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187491 140187491 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140187491C>G ENST00000530339.1 + 1 719 c.719C>G c.(718-720)cCa>cGa p.P240R PCDHA4_ENST00000512229.2_Missense_Mutation_p.P240R|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P240R NM_018907.2 NP_061730.1 p.P240Q(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAATGCCCCAGCTTTTGAC 0.418000 50 72 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70918365 70918365 + Missense_Mutation SNP A A C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:70918365A>C ENST00000334414.6 - 33 6555 c.6511T>G c.(6511-6513)Tat>Gat p.Y2171D RP11-588H23.3_ENST00000549359.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.Y1863D|PTPRB_ENST00000451516.2_Missense_Mutation_p.Y1863D|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.Y1953D|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.Y2083D|PTPRB_ENST00000550857.1_Missense_Mutation_p.Y1863D|RP11-588H23.3_ENST00000551438.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1953 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGTAGACATACTGACACTGT 0.408000 12 58 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122774529 122774529 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:122774529G>T ENST00000194130.2 - 8 906 c.867C>A c.(865-867)ttC>ttA p.F289L SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 289 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) GGGCAGCTGGGAAGGAAAACG 0.428000 27 73 1.77063e-15 2.74036e-15 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168115654 168115654 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:168115654A>T ENST00000409728.1 + 11 2786 c.2697A>T c.(2695-2697)aaA>aaT p.K899N XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.K866N|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K866N|XIRP2_ENST00000409605.1_Missense_Mutation_p.K644N|XIRP2_ENST00000420519.1_Missense_Mutation_p.K899N NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 ATCAAATTAAAAATATGCCAT 0.328000 40 74 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16008416 16008416 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:16008416G>T ENST00000221700.5 - 2 101 c.6C>A c.(4-6)tcC>tcA p.S2S CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Silent_p.S2S NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGCTCAGCTGGGACATCCTGC 0.687000 27 37 2.79863e-10 3.70673e-10 1 1 0 CACNA1F 778 broad.mit.edu 37 X 49067840 49067840 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:49067840C>G ENST00000376265.2 - 36 4296 c.4235G>C c.(4234-4236)tGt>tCt p.C1412S CACNA1F_ENST00000376251.1_Missense_Mutation_p.C1347S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.C1401S NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1412 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ATTGCTACCACAGGTAAACTC 0.537000 9 79 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62503856 62503856 + Silent SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:62503856T>A ENST00000383710.4 - 14 2710 c.2361A>T c.(2359-2361)cgA>cgT p.R787R CADPS_ENST00000283269.9_Silent_p.R787R|CADPS_ENST00000357948.3_Silent_p.R770R NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 787 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CTAGCAGAACTCGGAGCCTCT 0.413000 7 112 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54492128 54492128 + Splice_Site SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:54492128C>T ENST00000375135.3 - 7 2231 c.e7+1 NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TGACCACTTACCTGCACCTCA 0.562000 16 37 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503207 140503207 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140503207G>A ENST00000194152.1 + 1 1627 c.1627G>A c.(1627-1629)Gag>Aag p.E543K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 543 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGAGCAGCGAGGCGCTGGT 0.687000 39 66 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25686963 25686963 + Splice_Site SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:25686963T>C ENST00000264331.4 - 2 69 c.e2-2 TOP2B_ENST00000435706.2_Intron NM_001068.2 NP_001059.2 Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 AAAAAGAGTCTAAAATTAACC 0.328000 12 18 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43292463 43292463 + Missense_Mutation SNP G G C rs145513181 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:43292463G>C ENST00000374518.4 + 10 1834 c.1771G>C c.(1771-1773)Gaa>Caa p.E591Q NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 591 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 GTTTGCATCTGAAGATGAATC 0.448000 11 76 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 650783 650783 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:650783T>A ENST00000255622.6 + 9 1271 c.1228T>A c.(1228-1230)Ttt>Att p.F410I PDE6B_ENST00000496514.1_Missense_Mutation_p.F410I|PDE6B_ENST00000429163.2_Missense_Mutation_p.F131I NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 410 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CGGGAAGCCCTTTGACGAACA 0.597000 20 54 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067282 190067282 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:190067282G>T ENST00000367462.3 - 8 2398 c.2167C>A c.(2167-2169)Ctt>Att p.L723I FAM5C_ENST00000534846.1_Missense_Mutation_p.L621I|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 723 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAAGAGAAAAGATCTAGACGA 0.478000 13 111 2.27111e-07 2.67776e-07 1 1 0 AMTN 401138 broad.mit.edu 37 4 71388529 71388529 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:71388529C>A ENST00000339336.4 + 3 242 c.112C>A c.(112-114)Cta>Ata p.L38I AMTN_ENST00000504451.1_Missense_Mutation_p.L37I NM_212557.2 NP_997722.1 Q6UX39 AMTN_HUMAN amelotin 38 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) TCAGGGAACACTACCAAACCA 0.423000 71 205 3.13765e-25 5.58695e-25 1 1 0 NTS 4922 broad.mit.edu 37 12 86276089 86276089 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:86276089G>A ENST00000256010.6 + 4 556 c.449G>A c.(448-450)cGg>cAg p.R150Q NTS_ENST00000551529.1_Missense_Mutation_p.R75Q NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 150 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 ATTCTGAAACGGCAGCTGTAT 0.323000 53 177 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113348951 113348951 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:113348951G>T ENST00000297405.5 - 44 7193 c.6949C>A c.(6949-6951)Cct>Act p.P2317T CSMD3_ENST00000352409.3_Missense_Mutation_p.P2247T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2213T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2277T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2317 CUB 13. 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 CCATTCCCAGGGGGTACTCTT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 59 152 5.73376e-24 1.01321e-23 1 1 0 BECN1 8678 broad.mit.edu 37 17 40975821 40975821 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:40975821C>T ENST00000361523.4 - 2 207 c.75G>A c.(73-75)ctG>ctA p.L25L BECN1_ENST00000438274.3_Silent_p.L25L|BECN1_ENST00000590099.1_Silent_p.L25L NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 25 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TGTCCAGTTTCAGGGGCTGGC 0.562000 19 90 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894340 123894340 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:123894340G>T ENST00000375024.1 + 1 621 c.621G>T c.(619-621)tcG>tcT p.S207S NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TAGTGGCCTCGGGCTGCTTTC 0.547000 24 153 6.27289e-28 1.15223e-27 1 1 0 LPHN3 23284 broad.mit.edu 37 4 62845286 62845286 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:62845286T>A ENST00000512091.1 + 17 3354 c.2607T>A c.(2605-2607)agT>agA p.S869R LPHN3_ENST00000508946.1_Missense_Mutation_p.S869R|LPHN3_ENST00000506720.1_Missense_Mutation_p.S937R|LPHN3_ENST00000514996.1_Missense_Mutation_p.S869R|LPHN3_ENST00000506746.1_Missense_Mutation_p.S937R|LPHN3_ENST00000506700.1_Missense_Mutation_p.S869R|LPHN3_ENST00000514591.1_Missense_Mutation_p.S869R|LPHN3_ENST00000509896.1_Missense_Mutation_p.S937R|LPHN3_ENST00000545650.1_Missense_Mutation_p.S869R|LPHN3_ENST00000507164.1_Missense_Mutation_p.S937R|LPHN3_ENST00000507625.1_Missense_Mutation_p.S937R|LPHN3_ENST00000514157.1_Missense_Mutation_p.S869R|LPHN3_ENST00000508693.1_Missense_Mutation_p.S937R|LPHN3_ENST00000511324.1_Missense_Mutation_p.S937R|LPHN3_ENST00000504896.1_Missense_Mutation_p.S869R Q9HAR2 LPHN3_HUMAN latrophilin 3 856 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TCCAGCACAGTGATGCGGTCC 0.413000 72 170 0 0 1 0 0 ZWINT 11130 broad.mit.edu 37 10 58118365 58118365 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:58118365C>T ENST00000373944.3 - 7 782 c.744G>A c.(742-744)gaG>gaA p.E248E ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Silent_p.E128E|ZWINT_ENST00000395405.1_Silent_p.E248E|ZWINT_ENST00000361148.6_Silent_p.E201E O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 248 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 CTGTACTCTGCTCCTGGGGTC 0.557000 22 65 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33653500 33653500 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:33653500C>A ENST00000399362.4 - 13 1734 c.1381G>T c.(1381-1383)Gtg>Ttg p.V461L CLASP2_ENST00000333778.6_Missense_Mutation_p.V238L|CLASP2_ENST00000468888.2_Missense_Mutation_p.V462L|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000539981.1_Missense_Mutation_p.V213L|CLASP2_ENST00000461133.3_Missense_Mutation_p.V228L|CLASP2_ENST00000487200.1_Missense_Mutation_p.V234L|CLASP2_ENST00000359576.5_Missense_Mutation_p.V461L|CLASP2_ENST00000480013.1_Missense_Mutation_p.V228L|CLASP2_ENST00000313350.6_Missense_Mutation_p.V234L NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 462 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TACCTCCTCACGGGAACTGAT 0.323000 4 22 0.00909568 0.00930907 1 1 0 KIDINS220 57498 broad.mit.edu 37 2 8871907 8871907 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:8871907T>A ENST00000256707.3 - 30 4440 c.4259A>T c.(4258-4260)cAg>cTg p.Q1420L KIDINS220_ENST00000473731.1_Missense_Mutation_p.Q1401L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Q1401L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.Q1321L NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1420 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGATGAACTCTGACCCATGTA 0.463000 25 188 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32380207 32380207 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:32380207C>A ENST00000265069.8 - 16 2815 c.2713G>T c.(2713-2715)Gct>Tct p.A905S ZFR_ENST00000510369.1_5'UTR NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 905 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TGGCGTAGAGCAGCCAGAGCG 0.448000 8 84 5.4927e-09 6.99618e-09 1 1 0 DSC1 1823 broad.mit.edu 37 18 28722002 28722002 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:28722002G>T ENST00000257197.3 - 9 1481 c.1220C>A c.(1219-1221)aCa>aAa p.T407K DSC1_ENST00000257198.5_Missense_Mutation_p.T407K|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 407 Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATTTGGATCTGTGCTAATTAT 0.358000 45 73 5.34276e-22 9.05156e-22 1 1 0 DCT 1638 broad.mit.edu 37 13 95112480 95112480 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:95112480C>A ENST00000377028.5 - 6 1457 c.1043_splice c.e6-1 p.R348_splice DCT_ENST00000446125.1_Splice_Site_p.R348_splice NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 348 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) CCAAAGCATTCCTAGGAGAAA 0.388000 15 39 1.5739e-10 2.10456e-10 1 1 0 BTNL8 79908 broad.mit.edu 37 5 180377146 180377146 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:180377146G>T ENST00000340184.4 + 8 1311 c.1105G>T c.(1105-1107)Gtg>Ttg p.V369L BTNL8_ENST00000511704.1_Missense_Mutation_p.V253L|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.V162L|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.V244L|BTNL8_ENST00000533815.2_Missense_Mutation_p.V185L NM_001040462.2 NP_001035552.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 369 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAGGAGTACGTGACTTTGTC 0.507000 58 41 2.27459e-33 4.32606e-33 1 1 0 BPIFB6 128859 broad.mit.edu 37 20 31627263 31627263 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:31627263C>A ENST00000349552.1 + 10 1011 c.1011C>A c.(1009-1011)acC>acA p.T337T NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 337 extracellular region lipid binding TCCACAGCACCCTGGAGATGT 0.527000 25 133 7.41945e-09 9.38184e-09 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13814734 13814734 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:13814734C>A ENST00000265104.4 - 43 7314 c.7210G>T c.(7210-7212)Gat>Tat p.D2404Y NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2404 AAA 2 (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) GGACTCCAATCAAGGATAGAA 0.363000 Kartagener syndrome 14 53 9.31168e-06 1.05001e-05 1 1 0 ABCG2 9429 broad.mit.edu 37 4 89016684 89016684 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:89016684T>A ENST00000515655.1 - 14 2062 c.1715A>T c.(1714-1716)gAt>gTt p.D572V ABCG2_ENST00000237612.3_Silent_p.R575R NM_001257386.1 NP_001244315.1 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 0 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAAATCCATATCGTGGAATGC 0.418000 9 53 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70764462 70764462 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:70764462C>T ENST00000373719.3 + 4 725 c.508C>T c.(508-510)Ctg>Ttg p.L170L OGT_ENST00000373701.3_Silent_p.L160L|OGT_ENST00000498566.1_3'UTR NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 170 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) GCTCAAAGCCCTGGGTCGCTT 0.398000 4 38 0 0 1 0 0 SMC1A 8243 broad.mit.edu 37 X 53423454 53423454 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:53423454C>T ENST00000322213.4 - 17 2773 c.2646G>A c.(2644-2646)tcG>tcA p.S882S NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 882 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CATTCACTTCCGACTTCTTGG 0.512000 24 102 0 0 1 0 0 ZNF174 7727 broad.mit.edu 37 16 3458664 3458664 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:3458664G>C ENST00000268655.4 + 3 1554 c.969G>C c.(967-969)aaG>aaC p.K323N LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000571936.1_Missense_Mutation_p.K323N NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 323 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GCTCAGCAAAGAAACCCTACA 0.502000 8 55 0 0 1 0 0 IGHV1-24 28467 broad.mit.edu 37 14 106733336 106733336 + RNA SNP C C T rs139283249 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:106733336C>T ENST00000390610.2 - 0 218 GCACCCAGTGCATGGATAATT 0.542000 9 100 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309079 24309079 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:24309079G>C ENST00000357002.4 + 4 392 c.277G>C c.(277-279)Gac>Cac p.D93H ZNF254_ENST00000342944.6_Missense_Mutation_p.D8H 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 93 D -> G (in dbSNP:rs17854260). 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) TTTTGCTCAAGACCTTTGGCC 0.318000 5 93 0 0 1 0 0 FLJ36000 284124 broad.mit.edu 37 17 21909479 21909479 + RNA SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:21909479C>G ENST00000581223.2 + 0 204 NR_027084.1 GCACATTGTCCGGCAGGAGAG 0.527000 3 4 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125143731 125143731 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:125143731C>A ENST00000362012.2 + 6 583 c.578C>A c.(577-579)aCc>aAc p.T193N PTGS1_ENST00000373698.5_Missense_Mutation_p.T84N|PTGS1_ENST00000223423.4_Missense_Mutation_p.T193N|PTGS1_ENST00000540753.1_Missense_Mutation_p.T168N NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 193 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCCCAAGGCACCAACCTCATG 0.567000 23 32 1.64293e-13 2.39409e-13 1 1 0 SECISBP2 79048 broad.mit.edu 37 9 91961840 91961840 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:91961840G>C ENST00000375807.3 + 11 1550 c.1479G>C c.(1477-1479)gaG>gaC p.E493D SECISBP2_ENST00000534113.2_Missense_Mutation_p.E425D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E420D NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 493 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CATCAGGGGAGAGAGGCCGCC 0.587000 29 30 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186678574 186678574 + Silent SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:186678574A>G ENST00000343098.5 + 18 20397 c.20397A>G c.(20395-20397)aaA>aaG p.K6799K FSIP2_ENST00000424728.1_Silent_p.K6710K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GCAGCCTGAAAAAATTTTTGT 0.373000 18 126 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108863677 108863677 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:108863677C>A ENST00000329106.2 + 1 27 c.27C>A c.(25-27)ccC>ccA p.P9P SULT1C3_ENST00000376700.1_Silent_p.P9P NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 9 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AAAACGCTCCCACGATGGAAA 0.353000 33 114 1.90571e-15 2.94289e-15 1 1 0 SHANK2 22941 broad.mit.edu 37 11 70333408 70333408 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:70333408C>T ENST00000338508.4 - 32 2992 c.2993G>A c.(2992-2994)aGc>aAc p.S998N SHANK2_ENST00000449833.2_Missense_Mutation_p.S402N|SHANK2_ENST00000409161.1_Missense_Mutation_p.S401N|SHANK2_ENST00000423696.2_Missense_Mutation_p.S618N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 618 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GACGGCTTTGCTGGCGATCTT 0.612000 52 158 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29639242 29639242 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:29639242C>A ENST00000318184.5 - 8 931 c.932G>T c.(931-933)aGg>aTg p.R311M OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 311 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGTTATATACCTTGAGCCCAC 0.408000 26 63 7.26314e-15 1.09733e-14 1 1 0 TAF1 6872 broad.mit.edu 37 X 70603920 70603920 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:70603920G>T ENST00000449580.1 + 13 2104 c.2053G>T c.(2053-2055)Gag>Tag p.E685* TAF1_ENST00000276072.3_Nonsense_Mutation_p.E706*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.E706*|TAF1_ENST00000373790.4_Nonsense_Mutation_p.E685* P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 685 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.E706K(1)|p.E685K(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AGAATATAGTGAGGAAAATGG 0.423000 26 142 1.38267e-23 2.41276e-23 1 1 0 GABRA1 2554 broad.mit.edu 37 5 161324373 161324373 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:161324373G>T ENST00000428797.2 + 11 1671 c.1316G>T c.(1315-1317)tGg>tTg p.W439L GABRA1_ENST00000023897.6_Missense_Mutation_p.W439L|GABRA1_ENST00000444819.1_Missense_Mutation_p.W439L|GABRA1_ENST00000437025.2_Missense_Mutation_p.W439L|GABRA1_ENST00000420560.1_Missense_Mutation_p.W439L|GABRA1_ENST00000393943.4_Missense_Mutation_p.W439L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 439 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|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TTAGTCTACTGGGCTACGTAT 0.433000 74 91 4.81439e-37 9.25743e-37 1 1 0 FMN2 56776 broad.mit.edu 37 1 240370131 240370131 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:240370131C>A ENST00000319653.9 + 5 2249 c.2019C>A c.(2017-2019)gcC>gcA p.A673A NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 673 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGGGACAGGCCACTGTAATTC 0.443000 25 57 1.77063e-15 2.74036e-15 1 1 0 COL11A1 1301 broad.mit.edu 37 1 103345250 103345250 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:103345250C>A ENST00000358392.2 - 66 5616 c.5299G>T c.(5299-5301)Gat>Tat p.D1767Y COL11A1_ENST00000370096.3_Missense_Mutation_p.D1755Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1639Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.D1716Y NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1755 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCACAACCATCATACAGTGTT 0.428000 20 73 2.94398e-08 3.64991e-08 1 1 0 MYPN 84665 broad.mit.edu 37 10 69957156 69957156 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:69957156G>T ENST00000358913.5 + 16 3694 c.3206G>T c.(3205-3207)cGc>cTc p.R1069L MYPN_ENST00000354393.2_Missense_Mutation_p.R794L|MYPN_ENST00000540630.1_Missense_Mutation_p.R1069L NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1069 Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 CTACAGGAACGCTTTTTCCGA 0.473000 22 73 9.04412e-07 1.0469e-06 1 1 0 OBSL1 23363 broad.mit.edu 37 2 220424097 220424097 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:220424097C>A ENST00000404537.1 - 9 3132 c.3076G>T c.(3076-3078)Ggg>Tgg p.G1026W OBSL1_ENST00000265317.5_Missense_Mutation_p.G17W|OBSL1_ENST00000265318.4_Missense_Mutation_p.G1026W|OBSL1_ENST00000373876.1_Missense_Mutation_p.G1026W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000603926.1_Missense_Mutation_p.G1026W NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1026 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) ACTTCCAGCCCATCCTTGTAC 0.647000 37 142 6.29468e-14 9.34828e-14 1 1 0 RUFY3 22902 broad.mit.edu 37 4 71630261 71630261 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:71630261G>T ENST00000226328.4 + 4 1103 c.540G>T c.(538-540)atG>atT p.M180I RUFY3_ENST00000381006.3_Missense_Mutation_p.M180I|RUFY3_ENST00000417478.2_Missense_Mutation_p.M240I|RUFY3_ENST00000536664.1_Missense_Mutation_p.M164I|RUFY3_ENST00000502653.1_Missense_Mutation_p.M127I NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 180 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) CAGAATATATGAAAGCTTTGA 0.353000 16 66 6.31663e-08 7.64126e-08 1 1 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785209 22785209 + RNA SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:22785209C>A ENST00000600260.1 + 0 1385 NR_033899.1 ACCTGCTGGCCTGGGCCCAGA 0.672000 6 8 3.59834e-05 3.94912e-05 1 1 0 ASIC5 51802 broad.mit.edu 37 4 156752976 156752976 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:156752976C>A ENST00000537611.2 - 9 1373 c.1327_splice c.e9+1 p.A443_splice NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 443 integral to membrane|plasma membrane TAACACTTACCAAGTAACTCA 0.378000 39 120 1.07637e-12 1.53327e-12 1 1 0 PKP1 5317 broad.mit.edu 37 1 201263116 201263116 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:201263116C>A ENST00000263946.3 + 2 500 c.249C>A c.(247-249)acC>acA p.T83T PKP1_ENST00000352845.3_Silent_p.T83T|PKP1_ENST00000367324.3_Silent_p.T83T NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 83 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 ATGGGACCACCAGCAGGAGCA 0.512000 12 24 4.36969e-10 5.70102e-10 1 1 0 WASL 8976 broad.mit.edu 37 7 123332735 123332735 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:123332735G>A ENST00000223023.4 - 9 1345 c.1013C>T c.(1012-1014)cCg>cTg p.P338L NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 338 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCTATTTGGCGGTGGTGGAGG 0.637000 16 206 0 0 1 0 0 GBE1 2632 broad.mit.edu 37 3 81627205 81627205 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:81627205C>T ENST00000429644.2 - 12 2132 c.1489G>A c.(1489-1491)Gcc>Acc p.A497T GBE1_ENST00000489715.1_Missense_Mutation_p.A456T NM_000158.3 NP_000149.3 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 497 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) TACATTTCGGCATCCATCAAC 0.378000 Glycogen Storage Disease, type IV 5 28 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64438541 64438541 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:64438541C>A ENST00000282869.5 - 4 2692 c.1408G>T c.(1408-1410)Gag>Tag p.E470* NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 470 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) TACTGTTTCTCTTCAGTATGA 0.358000 17 36 1.99824e-07 2.37206e-07 1 1 0 MCM5 4174 broad.mit.edu 37 22 35796517 35796517 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr22:35796517C>G ENST00000216122.4 + 2 240 c.86C>G c.(85-87)tCg>tGg p.S29W CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.S29W NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 29 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|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 GCCCGCAAATCGCAGCTGCAG 0.657000 30 33 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23704925 23704925 + Nonsense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:23704925G>A ENST00000397312.2 - 4 752 c.478C>T c.(478-480)Cag>Tag p.Q160* ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.Q160*|ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.Q160*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.Q160*|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.Q189* NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 160 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CCAGTGACCTGGTCGACAAGA 0.428000 88 142 0 0 1 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739751 34739751 + RNA SNP G G T rs146761291 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:34739751G>T ENST00000562591.1 - 0 171 NR_034019.1 GACAGTTTCAGAAGCGAGTAG 0.393000 48 33 8.00217e-19 1.28698e-18 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885102 88885102 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:88885102C>A ENST00000319675.3 - 1 1194 c.1098G>T c.(1096-1098)gtG>gtT p.V366V NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 366 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAGAGAAGGCCACACTGGGAA 0.587000 19 74 1.56452e-12 2.2106e-12 1 1 0 KLHL2 11275 broad.mit.edu 37 4 166226778 166226778 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:166226778G>T ENST00000226725.6 + 9 1199 c.940G>T c.(940-942)Ggc>Tgc p.G314C KLHL2_ENST00000538127.1_Missense_Mutation_p.G226C|KLHL2_ENST00000514860.1_Missense_Mutation_p.G318C|KLHL2_ENST00000506761.1_Missense_Mutation_p.G148C|KLHL2_ENST00000421009.2_Missense_Mutation_p.G217C|KLHL2_ENST00000509028.1_Intron NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 314 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) GGTGGTTGGGGGCCAAGCACC 0.463000 45 138 1.81118e-26 3.25826e-26 1 1 0 FAM222A 84915 broad.mit.edu 37 12 110206856 110206856 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:110206856G>A ENST00000538780.1 + 3 1838 c.1122G>A c.(1120-1122)ccG>ccA p.P374P FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.P374P NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 374 AGCTGGGGCCGGGGGCAGCCC 0.682000 5 13 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25542757 25542757 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:25542757A>G ENST00000330688.4 + 3 812 c.391A>G c.(391-393)Aat>Gat p.N131D RARB_ENST00000458646.1_Missense_Mutation_p.N19D|RARB_ENST00000404969.1_Missense_Mutation_p.N138D|RARB_ENST00000437042.2_Missense_Mutation_p.N19D|RARB_ENST00000462272.1_3'UTR NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 138 embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGTCACCAGGAATCGATGCCA 0.393000 19 102 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99642343 99642343 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:99642343G>T ENST00000345514.2 - 3 883 c.617C>A c.(616-618)tCc>tAc p.S206Y BCL11B_ENST00000443726.2_Missense_Mutation_p.S83Y|BCL11B_ENST00000357195.3_Missense_Mutation_p.S277Y NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 277 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CATGAGCGGGGACTGCGCCAC 0.731000 T TLX3 T-ALL 3 5 0.004672 0.00483836 1 1 0 ALPK1 80216 broad.mit.edu 37 4 113333052 113333052 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:113333052C>T ENST00000458497.1 + 5 625 c.346C>T c.(346-348)Cgg>Tgg p.R116W ALPK1_ENST00000177648.9_Missense_Mutation_p.R116W|ALPK1_ENST00000505912.1_3'UTR|ALPK1_ENST00000504176.2_Missense_Mutation_p.R38W NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 116 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CTTGGTGGACCGGTTCCTGTA 0.607000 8 22 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66458923 66458923 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:66458923C>T ENST00000533211.1 - 27 5728 c.5397G>A c.(5395-5397)gcG>gcA p.A1799A SPTBN2_ENST00000309996.2_Silent_p.A1799A|SPTBN2_ENST00000529997.1_Silent_p.A1799A O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1799 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GCTCGTACGCCGCGGCCAGCA 0.692000 6 42 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731236 21731236 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:21731236G>T ENST00000584755.1 + 2 935 c.538G>T c.(538-540)Gcc>Tcc p.A180S UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AAATGTGAAGGCCAAGATCCA 0.532000 34 93 6.53348e-20 1.07051e-19 1 1 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31726584 31726584 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:31726584G>T ENST00000493662.2 + 15 1365 c.1309G>T c.(1309-1311)Gtt>Ttt p.V437F MSH5_ENST00000375750.3_Missense_Mutation_p.V420F|MSH5_ENST00000375755.3_Missense_Mutation_p.V420F|MSH5_ENST00000395853.1_Missense_Mutation_p.V94F|MSH5_ENST00000431848.2_Missense_Mutation_p.V119F|MSH5_ENST00000375703.3_Missense_Mutation_p.V420F|MSH5_ENST00000534153.4_Missense_Mutation_p.V437F|MSH5_ENST00000375740.3_Missense_Mutation_p.V437F|MSH5_ENST00000375742.3_Missense_Mutation_p.V437F CCTTACTGAGGTTGCCCGCAA 0.522000 7 58 2.0095e-06 2.29939e-06 1 1 0 GHSR 2693 broad.mit.edu 37 3 172165688 172165688 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:172165688G>A ENST00000241256.2 - 1 558 c.516C>T c.(514-516)ttC>ttT p.F172F GHSR_ENST00000427970.1_Silent_p.F172F NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 172 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CGGCGCTGCAGAAGGCCACGG 0.657000 12 66 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678336 66678336 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:66678336G>A ENST00000360242.5 + 7 1546 c.1429G>A c.(1429-1431)Gat>Aat p.D477N CCDC102B_ENST00000319445.6_Missense_Mutation_p.D477N|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D477N NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 477 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TCAAAAAGAAGATGAGGTACT 0.363000 14 51 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10629241 10629241 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:10629241A>T ENST00000254958.5 - 12 2040 c.1525T>A c.(1525-1527)Ttc>Atc p.F509I JAG1_ENST00000423891.2_Missense_Mutation_p.F350I NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 509 EGF-like 8; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 AGACACTGGAATCTGTTGATT 0.517000 Alagille Syndrome 11 36 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114242498 114242498 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:114242498C>T ENST00000371936.1 - 9 1243 c.994G>A c.(994-996)Gaa>Aaa p.E332K IL13RA2_ENST00000243213.1_Missense_Mutation_p.E332K Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 332 Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 CTCATACCTTCCCAGCATTGT 0.338000 26 119 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40936502 40936502 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:40936502G>T ENST00000313164.9 + 5 702 c.343G>T c.(343-345)Gat>Tat p.D115Y NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 115 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) AGACAGTGCTGATGAAGACAG 0.448000 15 30 0.000422831 0.000452663 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113933877 113933877 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:113933877C>A ENST00000297405.5 - 10 1856 c.1612G>T c.(1612-1614)Gat>Tat p.D538Y CSMD3_ENST00000352409.3_Missense_Mutation_p.D538Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D434Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D498Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 538 Sushi 2. 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 GGCCTGTGATCACTCCAAGCA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 73 7.53189e-24 1.32092e-23 1 1 0 FOLH1B 219595 broad.mit.edu 37 11 89405108 89405108 + RNA SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:89405108G>C ENST00000532352.1 + 0 1048 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TGGTGGTATTGACCCTCAGAG 0.403000 27 127 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85415984 85415984 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:85415984C>A ENST00000359152.5 - 8 4728 c.4729G>T c.(4729-4731)Ggg>Tgg p.G1577W SYTL2_ENST00000389958.3_Missense_Mutation_p.G162W|SYTL2_ENST00000354566.3_Missense_Mutation_p.G1069W|SYTL2_ENST00000525423.1_Missense_Mutation_p.G1053W|SYTL2_ENST00000525702.1_Missense_Mutation_p.G173W|SYTL2_ENST00000533892.1_Missense_Mutation_p.G133W|SYTL2_ENST00000524452.1_Missense_Mutation_p.G707W|SYTL2_ENST00000316356.4_Missense_Mutation_p.G732W|SYTL2_ENST00000389960.4_Missense_Mutation_p.G707W|SYTL2_ENST00000529581.1_Missense_Mutation_p.G173W|SYTL2_ENST00000528231.1_Missense_Mutation_p.G731W|SYTL2_ENST00000527523.1_Missense_Mutation_p.G699W NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 731 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCCACCTCCCCTAGGAAACTA 0.388000 52 144 3.50607e-19 5.66489e-19 1 1 0 PITPNM1 9600 broad.mit.edu 37 11 67262386 67262386 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:67262386C>T ENST00000356404.3 - 18 2898 c.2673G>A c.(2671-2673)gaG>gaA p.E891E PITPNM1_ENST00000534749.1_Silent_p.E891E|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000436757.2_Silent_p.E890E NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 891 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGATGGACGGCTCCTCGCATT 0.687000 14 92 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20666143 20666143 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:20666143T>A ENST00000357366.3 + 1 649 c.649T>A c.(649-651)Tgt>Agt p.C217S NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCACTTCCTATGTGACCCAGC 0.438000 41 84 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855802 228855802 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:228855802G>T ENST00000392056.3 - 11 4919 c.4873C>A c.(4873-4875)Cga>Aga p.R1625R SPHKAP_ENST00000344657.5_Silent_p.R1596R NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1625 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AGAGTGGCTCGGAGCTCGGCA 0.537000 19 66 6.49762e-13 9.31281e-13 1 1 0 NDUFS8 4728 broad.mit.edu 37 11 67799759 67799759 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:67799759C>T ENST00000313468.5 + 3 172 c.65C>T c.(64-66)cCt>cTt p.P22L NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 22 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) GCAGGACCTCCTGGTGGCCGG 0.607000 48 122 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61036451 61036451 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:61036451C>A ENST00000335613.5 - 15 2211 c.1825G>T c.(1825-1827)Gac>Tac p.D609Y VWCE_ENST00000535710.1_Missense_Mutation_p.D74Y NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 609 VWFC 4. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGGCAGGAGTCCACACAGTCT 0.652000 10 51 1.58986e-06 1.83123e-06 1 1 0 FCGR3A 2214 broad.mit.edu 37 1 161514527 161514527 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:161514527C>A ENST00000367969.3 - 4 832 c.649G>T c.(649-651)Gtg>Ttg p.V217L FCGR3A_ENST00000436743.1_Missense_Mutation_p.V181L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V181L|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V216L NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 181 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTGAAGACACATTTTTACTC 0.483000 21 53 1.10513e-12 1.56467e-12 1 1 0 PTCHD1 139411 broad.mit.edu 37 X 23397899 23397899 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:23397899G>A ENST00000379361.4 + 2 1403 c.543G>A c.(541-543)aaG>aaA p.K181K NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 181 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CTCACTTAAAGGACGGGAGGG 0.537000 24 144 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100933436 100933436 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:100933436C>G ENST00000325455.5 - 4 3407 c.1954G>C c.(1954-1956)Gat>Cat p.D652H PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.D58H NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 652 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) GCAACAGCATCCAGTGCTCTC 0.393000 22 127 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729269 41729269 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:41729269C>T ENST00000242208.4 - 3 1506 c.1260G>A c.(1258-1260)gtG>gtA p.V420V AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Silent_p.V420V NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 420 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CACACTCCTCCACGATCATGT 0.463000 TSP Lung(11;0.080) 21 63 0 0 1 0 0 TSN 7247 broad.mit.edu 37 2 122520584 122520584 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:122520584A>T ENST00000389682.3 + 5 624 c.377A>T c.(376-378)gAg>gTg p.E126V TSN_ENST00000498545.1_3'UTR|TSN_ENST00000536142.1_Intron|TSN_ENST00000409193.1_Missense_Mutation_p.E121V NM_001261401.1|NM_004622.2 NP_001248330.1|NP_004613.1 Q15631 TSN_HUMAN translin 126 DNA recombination cytoplasm|nucleus sequence-specific DNA binding p.E126V(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1) 12 Ovarian(717;0.0563)|Prostate(154;0.116) TTTTTAGTTGAGCCAGATCGG 0.363000 12 70 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10423042 10423042 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:10423042C>A ENST00000317552.4 - 9 1923 c.1523G>T c.(1522-1524)cGt>cTt p.R508L MID1_ENST00000380787.1_Missense_Mutation_p.R508L|MID1_ENST00000453318.2_Missense_Mutation_p.R508L|MID1_ENST00000380780.1_Missense_Mutation_p.R508L|MID1_ENST00000380782.2_Missense_Mutation_p.R508L|MID1_ENST00000380785.1_Missense_Mutation_p.R508L|MID1_ENST00000380779.1_Missense_Mutation_p.R508L|MID1_ENST00000479925.1_5'UTR NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 508 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 TGACTCATCACGTTCTACTGT 0.443000 24 85 5.45024e-15 8.32444e-15 1 1 0 COG7 91949 broad.mit.edu 37 16 23457175 23457175 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:23457175C>A ENST00000307149.5 - 2 462 c.277G>T c.(277-279)Gac>Tac p.D93Y NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 93 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) TTTTTAATGTCCTCCTTGACA 0.438000 48 53 1.65492e-34 3.1561e-34 1 1 0 ESPNP 284729 broad.mit.edu 37 1 17033858 17033858 + RNA SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:17033858C>T ENST00000492551.1 - 0 620 NR_026567.1 CGGCCGCGTACCCGTCGCGGT 0.687000 4 18 0 0 1 0 0 TMEM45A 55076 broad.mit.edu 37 3 100275603 100275603 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:100275603G>T ENST00000403410.1 + 5 858 c.e5-1 TMEM45A_ENST00000323523.4_Splice_Site|TMEM45A_ENST00000462884.1_Splice_Site Q9NWC5 TM45A_HUMAN transmembrane protein 45A integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2) 11 TTTCTTGGCAGGCATGGCTGG 0.438000 19 21 2.35188e-11 3.21885e-11 1 1 0 CCM2 83605 broad.mit.edu 37 7 45108139 45108139 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:45108139G>T ENST00000381112.3 + 5 1312 c.633G>T c.(631-633)gtG>gtT p.V211V CCM2_ENST00000258781.6_Silent_p.V190V|CCM2_ENST00000541586.1_Silent_p.V132V|CCM2_ENST00000475551.1_Silent_p.V184V|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR NM_001029835.2 NP_001025006.1 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 190 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TTGGGCCCGTGGAGGCATGCT 0.627000 31 55 1.74807e-11 2.40187e-11 1 1 0 SCN2A 6326 broad.mit.edu 37 2 166245867 166245867 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:166245867C>A ENST00000357398.3 + 27 5841 c.5551C>A c.(5551-5553)Cgg>Agg p.R1851R SCN2A_ENST00000375437.2_Silent_p.R1851R|SCN2A_ENST00000375427.2_Silent_p.R1851R|SCN2A_ENST00000283256.6_Silent_p.R1851R Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1851 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAGTGGTGACCGGATCCACTG 0.468000 51 123 6.31075e-24 1.11235e-23 1 1 0 CRADD 8738 broad.mit.edu 37 12 94243993 94243993 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:94243993C>T ENST00000542893.2 + 3 864 c.546C>T c.(544-546)aaC>aaT p.N182N CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.N182N|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 182 Death. apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 GCCTGCACAACGGGCTGCGGG 0.652000 13 67 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123880664 123880664 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:123880664G>A ENST00000373855.1 + 12 1756 c.1496G>A c.(1495-1497)aGt>aAt p.S499N CNTRL_ENST00000238341.5_Missense_Mutation_p.S499N|CNTRL_ENST00000373865.2_3'UTR Q7Z7A1 CNTRL_HUMAN centriolin 499 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AAGCAGTTGAGTGGTAGACTA 0.393000 24 139 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653223 55653223 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:55653223G>C ENST00000449290.2 + 2 411 c.319G>C c.(319-321)Gac>Cac p.D107H NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 107 intracellular zinc ion binding CTGTGAAGTGGACAAGAGCCT 0.522000 9 45 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46063308 46063308 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:46063308G>T ENST00000309285.3 - 2 488 c.132C>A c.(130-132)ctC>ctA p.L44L XCR1_ENST00000542109.1_Silent_p.L44L NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 44 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CCACTAGGCTGAGGAGAAACA 0.552000 9 84 0.000442599 0.000472377 1 1 0 KIF26A 26153 broad.mit.edu 37 14 104639387 104639387 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:104639387G>T ENST00000315264.7 + 7 1455 c.1077G>T c.(1075-1077)tgG>tgT p.W359C KIF26A_ENST00000423312.2_Missense_Mutation_p.W498C Q9ULI4 KI26A_HUMAN kinesin family member 26A 498 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCATCTCCTGGCTCTTCAGGC 0.697000 5 7 0.184627 0.185691 1 1 0 HCK 3055 broad.mit.edu 37 20 30686915 30686915 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:30686915C>A ENST00000534862.1 + 13 1658 c.1295C>A c.(1294-1296)aCc>aAc p.T432N HCK_ENST00000538448.1_Missense_Mutation_p.T431N|HCK_ENST00000375862.2_Missense_Mutation_p.T451N|HCK_ENST00000375852.2_Missense_Mutation_p.T452N|HCK_ENST00000518730.1_Missense_Mutation_p.T430N|HCK_ENST00000520553.1_Missense_Mutation_p.T431N NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 452 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGATCGTCACCTACGGCCGG 0.552000 55 181 3.74213e-36 7.17584e-36 1 1 0 MTMR10 54893 broad.mit.edu 37 15 31253166 31253166 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:31253166C>A ENST00000435680.1 - 7 773 c.676G>T c.(676-678)Gat>Tat p.D226Y MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.D144Y|MTMR10_ENST00000425768.1_Silent_p.R195R NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 226 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) CTGTCCCAATCCGAGTAAGTT 0.473000 5 7 0.000602214 0.000639796 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480872 140480872 + Silent SNP C C A rs148121148 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140480872C>A ENST00000231130.2 + 1 639 c.639C>A c.(637-639)acC>acA p.T213T AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 213 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAACGCTCACCGCGCTGGACG 0.562000 34 33 8.4185e-14 1.24231e-13 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166893017 166893017 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:166893017C>A ENST00000423058.2 - 16 2987 c.2970G>T c.(2968-2970)ttG>ttT p.L990F AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L962F|SCN1A_ENST00000375405.3_Missense_Mutation_p.L979F|SCN1A_ENST00000303395.4_Missense_Mutation_p.L990F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 990 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGCTCAGAAGCAAGGCCAGAA 0.368000 9 41 0.335167 0.33613 1 1 0 NIPBL 25836 broad.mit.edu 37 5 37026368 37026368 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:37026368C>G ENST00000282516.8 + 31 6246 c.5747C>G c.(5746-5748)aCt>aGt p.T1916S NIPBL_ENST00000448238.2_Missense_Mutation_p.T1916S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1916 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTCTGGTTTACTCCAACTCCA 0.343000 16 27 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41195961 41195961 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:41195961C>A ENST00000263413.3 - 5 784 c.520G>T c.(520-522)Ggg>Tgg p.G174W C6_ENST00000337836.5_Missense_Mutation_p.G174W NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 174 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTTGTCCTCCCACAGTCCCTT 0.428000 78 146 6.30617e-38 1.21931e-37 1 1 0 OBSCN 84033 broad.mit.edu 37 1 228468275 228468275 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:228468275G>T ENST00000570156.2 + 35 9336 c.9262G>T c.(9262-9264)Gag>Tag p.E3088* OBSCN_ENST00000359599.6_Nonsense_Mutation_p.E1506*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.E2659*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.E2659*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2089 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGTCCGCAGAGGAGCGCGG 0.647000 19 51 1.15919e-05 1.29874e-05 1 1 0 GLIS1 148979 broad.mit.edu 37 1 53975609 53975609 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:53975609C>A ENST00000312233.2 - 8 2016 c.1450G>T c.(1450-1452)Ggg>Tgg p.G484W NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 484 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GGCTGGCCCCCCGGAGAATGG 0.692000 4 13 0.150653 0.15174 1 1 0 HKR1 284459 broad.mit.edu 37 19 37854657 37854657 + Nonsense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:37854657C>T ENST00000591471.1 + 9 2782 c.1141C>T c.(1141-1143)Cag>Tag p.Q381* HKR1_ENST00000324411.4_Nonsense_Mutation_p.Q654*|HKR1_ENST00000541583.2_Nonsense_Mutation_p.Q593*|HKR1_ENST00000392153.3_Nonsense_Mutation_p.Q635*|HKR1_ENST00000589392.1_Nonsense_Mutation_p.Q636*|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Nonsense_Mutation_p.Q381* P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 654 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATCAGACATCAGAGGACACA 0.458000 14 66 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47811486 47811486 + Silent SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:47811486G>C ENST00000285106.6 - 7 1512 c.798C>G c.(796-798)gtC>gtG p.V266V CXXC1_ENST00000412036.2_Silent_p.V266V|CXXC1_ENST00000589940.1_Silent_p.V266V NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 266 Asp/Glu-rich (acidic). histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 GAGGCTCCTTGACTGTTGATG 0.602000 11 60 0 0 1 0 0 ANXA9 8416 broad.mit.edu 37 1 150960578 150960578 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:150960578T>C ENST00000368947.4 + 11 1185 c.709T>C c.(709-711)Tac>Cac p.Y237H NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 237 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTTGATCAGTACCAGCGGAG 0.557000 16 95 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112942840 112942840 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:112942840G>T ENST00000331203.2 + 7 1142 c.871G>T c.(871-873)Ggt>Tgt p.G291C FBLN7_ENST00000409450.3_Missense_Mutation_p.G245C|FBLN7_ENST00000409903.1_Missense_Mutation_p.G291C|FBLN7_ENST00000409667.3_Missense_Mutation_p.G157C NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 291 EGF-like 3; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CATCAACACCGGTGGAAGCTT 0.582000 31 94 1.06801e-11 1.47618e-11 1 1 0 CEP152 22995 broad.mit.edu 37 15 49083487 49083487 + Nonsense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:49083487G>A ENST00000380950.2 - 8 1106 c.919C>T c.(919-921)Caa>Taa p.Q307* CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q307*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q214* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 307 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.Q307E(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GCTTTTATTTGAGCTTCAAGC 0.328000 14 44 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112233 44112233 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:44112233G>T ENST00000361807.3 + 5 936 c.742G>T c.(742-744)Ggg>Tgg p.G248W ZNF485_ENST00000374437.2_Missense_Mutation_p.G157W|ZNF485_ENST00000374435.3_Missense_Mutation_p.G248W NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 TAATGACTGTGGGAAAGCCTT 0.398000 29 72 2.61193e-14 3.92071e-14 1 1 0 PLEKHA8 84725 broad.mit.edu 37 7 30094412 30094412 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:30094412G>T ENST00000449726.1 + 8 1234 c.884G>T c.(883-885)tGc>tTc p.C295F PLEKHA8_ENST00000396259.1_Missense_Mutation_p.C295F|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295F|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295F NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 295 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GACTCAAGTTGCTCTCCGGAA 0.403000 52 114 1.63038e-21 2.7225e-21 1 1 0 KLHL6 89857 broad.mit.edu 37 3 183210493 183210493 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:183210493G>T ENST00000341319.3 - 6 1388 c.1353C>A c.(1351-1353)gcC>gcA p.A451A NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 451 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GGAGGGGTGCGGCCTGTAGAG 0.567000 18 39 4.96729e-08 6.02986e-08 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248684984 248684984 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248684984C>T ENST00000343414.4 + 1 69 c.37C>T c.(37-39)Ctt>Ttt p.L13F NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAAGGGATTTCTTCTCCTGGG 0.423000 53 177 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122630889 122630889 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:122630889C>A ENST00000195173.4 - 20 3221 c.2918G>T c.(2917-2919)aGt>aTt p.S973I SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1029I|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S975I Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 975 TSP type-1 5. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) AGTGCACTTACTCCACTCAGA 0.647000 16 34 1.5739e-10 2.10456e-10 1 1 0 SCD5 79966 broad.mit.edu 37 4 83626503 83626503 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:83626503T>A ENST00000319540.4 - 2 615 c.296A>T c.(295-297)cAc>cTc p.H99L SCD5_ENST00000282709.4_Missense_Mutation_p.H99L|SCD5_ENST00000273908.4_Missense_Mutation_p.H99L NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 99 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) GTAGGACCTGTGGCTCCACAA 0.582000 19 37 0 0 1 0 0 FRMD7 90167 broad.mit.edu 37 X 131212380 131212380 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:131212380G>T ENST00000298542.4 - 12 1840 c.1665C>A c.(1663-1665)gcC>gcA p.A555A FRMD7_ENST00000464296.1_Silent_p.A540A|FRMD7_ENST00000370879.1_Silent_p.A435A NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 555 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CGCTAGTCCTGGCTATAGCTT 0.438000 45 226 1.8453e-21 3.07403e-21 1 1 0 UNC5D 137970 broad.mit.edu 37 8 35542219 35542219 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:35542219T>A ENST00000453357.2 + 6 912 c.856T>A c.(856-858)Tgt>Agt p.C286S UNC5D_ENST00000404895.2_Missense_Mutation_p.C291S|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.C291S Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 291 TSP type-1 1. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGGGGCCTTTTGTGAGGGAAT 0.502000 28 126 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 977494 977494 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:977494G>C ENST00000379370.2 + 7 1386 c.1336G>C c.(1336-1338)Gag>Cag p.E446Q NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 446 Kazal-like 4. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCAGCAGGCTGAGTGCCGGCA 0.716000 6 34 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237317 140237317 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140237317C>A ENST00000307360.5 + 1 1684 c.1684C>A c.(1684-1686)Ccc>Acc p.P562T PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACAACGCTCCCGCGCTGCT 0.692000 40 46 4.92203e-23 8.46201e-23 1 1 0 FAM102B 284611 broad.mit.edu 37 1 109103096 109103096 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:109103096G>C ENST00000370035.3 + 1 386 c.46G>C c.(46-48)Gag>Cag p.E16Q FAM102B_ENST00000405454.1_Missense_Mutation_p.E16Q NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 16 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) CTTCGAGCTCGAGGAGCTCTC 0.622000 13 61 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41805339 41805339 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:41805339T>A ENST00000396930.3 - 12 2375 c.1832A>T c.(1831-1833)gAg>gTg p.E611V KAT6A_ENST00000265713.2_Missense_Mutation_p.E611V|KAT6A_ENST00000485568.1_Missense_Mutation_p.E611V|KAT6A_ENST00000406337.1_Missense_Mutation_p.E611V NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 611 Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AAGAAATGGCTCCACATCGTA 0.378000 11 84 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828587 144828587 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:144828587G>A ENST00000338347.4 + 14 1633 c.1633G>A c.(1633-1635)Gac>Aac p.D545N NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.D143N|NBPF9_ENST00000468645.1_3'UTR neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 AGTCTTGCAGGACTCACTGGA 0.458000 98 313 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428342 10428342 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:10428342T>A ENST00000245503.5 - 34 5087 c.4703A>T c.(4702-4704)cAg>cTg p.Q1568L CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1568L|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1568 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAACTCAAGCTGGATGCGCAG 0.418000 57 102 0 0 1 0 0 PRNP 5621 broad.mit.edu 37 20 4680221 4680221 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:4680221G>A ENST00000379440.4 + 2 642 c.355G>A c.(355-357)Ggg>Agg p.G119R PRNP_ENST00000430350.2_Missense_Mutation_p.G119R NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 119 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGCAGCAGCTGGGGCAGTGGT 0.577000 13 46 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397454 125397454 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:125397454G>A ENST00000536769.1 - 1 2440 c.864C>T c.(862-864)aaC>aaT p.N288N UBC_ENST00000339647.5_Silent_p.N288N|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.N212N P0CG48 UBC_HUMAN ubiquitin C 288 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTTCTGGATGTTGTAGTCAG 0.532000 9 223 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131104220 131104220 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:131104220C>A ENST00000357668.1 - 24 2598 c.2572_splice c.e24+1 p.W857_splice ASAP1_ENST00000518721.1_Splice_Site_p.W857_splice Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 857 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 ATAACTTACCCCAAGGAACTG 0.597000 49 109 1.11015e-26 2.00747e-26 1 1 0 PLCH2 9651 broad.mit.edu 37 1 2428049 2428049 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:2428049G>T ENST00000449969.1 + 14 1919 c.1758G>T c.(1756-1758)gcG>gcT p.A586A PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Silent_p.A613A|PLCH2_ENST00000378486.3_Silent_p.A613A|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Silent_p.A613A O75038 PLCH2_HUMAN phospholipase C, eta 2 613 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GCCACAGGGCGACCCGGCAGA 0.647000 5 16 0.217242 0.21818 1 1 0 MPI 4351 broad.mit.edu 37 15 75183751 75183751 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr15:75183751C>A ENST00000352410.4 + 3 243 c.176C>A c.(175-177)gCc>gAc p.A59D MPI_ENST00000323744.6_Missense_Mutation_p.A59D|MPI_ENST00000562606.1_Missense_Mutation_p.A39D|MPI_ENST00000566377.1_Missense_Mutation_p.A59D|MPI_ENST00000563422.1_Missense_Mutation_p.A59D|MPI_ENST00000564003.1_Missense_Mutation_p.A9D|MPI_ENST00000565576.1_Missense_Mutation_p.A59D|MPI_ENST00000535694.1_Missense_Mutation_p.A9D|MPI_ENST00000563786.1_Missense_Mutation_p.A39D P34949 MPI_HUMAN mannose phosphate isomerase 59 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CGAGGGGATGCCAAGATCCTT 0.552000 47 99 2.68985e-26 4.82652e-26 1 1 0 AMPH 273 broad.mit.edu 37 7 38431502 38431502 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:38431502C>T ENST00000356264.2 - 19 1940 c.1725G>A c.(1723-1725)ccG>ccA p.P575P AMPH_ENST00000428293.2_Silent_p.P533P|AMPH_ENST00000325590.5_Silent_p.P533P NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 575 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TGGTGGGGCCCGGAGGAGCCG 0.622000 21 40 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149522470 149522470 + RNA SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:149522470C>T ENST00000378016.2 + 0 14100 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCAGGGACCCTGCCGCCCAG 0.647000 35 103 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 41100956 41100956 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:41100956G>T ENST00000373198.3 - 8 1635 c.1400C>A c.(1399-1401)cCc>cAc p.P467H PTPRT_ENST00000373184.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373201.1_Missense_Mutation_p.P467H|PTPRT_ENST00000356100.2_Missense_Mutation_p.P467H|PTPRT_ENST00000373193.3_Missense_Mutation_p.P467H|PTPRT_ENST00000373187.1_Missense_Mutation_p.P467H|PTPRT_ENST00000373190.1_Missense_Mutation_p.P467H NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 467 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TCGGCCCTCGGGGTTAGACAG 0.592000 63 75 6.26901e-30 1.16068e-29 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13762944 13762944 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:13762944C>A ENST00000265104.4 - 60 10272 c.10168G>T c.(10168-10170)Gac>Tac p.D3390Y DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3390 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGTTATAGTCAGGCATTTCA 0.363000 Kartagener syndrome 21 86 6.44725e-10 8.39586e-10 1 1 0 RCOR3 55758 broad.mit.edu 37 1 211462556 211462556 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:211462556G>A ENST00000367005.4 + 7 724 c.583G>A c.(583-585)Gga>Aga p.G195R RCOR3_ENST00000452621.2_Missense_Mutation_p.G253R|RCOR3_ENST00000419091.2_Missense_Mutation_p.G253R|RCOR3_ENST00000367006.4_Missense_Mutation_p.G253R NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TAGCAAGATTGGACTTGGAAG 0.398000 11 95 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76948388 76948388 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:76948388C>T ENST00000380887.2 + 4 616 c.544C>T c.(544-546)Cgt>Tgt p.R182C ESRRB_ENST00000556177.1_Missense_Mutation_p.R182C|ESRRB_ENST00000261532.7_Missense_Mutation_p.R182C|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Missense_Mutation_p.R182C A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) GCGTGGAGGCCGTCAGAAATA 0.517000 7 45 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94057032 94057032 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:94057032C>A ENST00000297268.6 + 49 3832 c.3361C>A c.(3361-3363)Cag>Aag p.Q1121K NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1121 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAGGGCTGACCAGCCTCGCTC 0.547000 HNSCC(75;0.22) 74 82 8.07507e-42 1.57882e-41 1 1 0 ITLN2 142683 broad.mit.edu 37 1 160914954 160914954 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:160914954C>T ENST00000368029.3 - 8 1011 c.954G>A c.(952-954)gcG>gcA p.A318A ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 318 signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGAGTACAGCCGCCTCCGTTA 0.537000 7 68 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8475398 8475398 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:8475398G>T ENST00000405863.1 + 2 965 c.e2+1 NXPH1_ENST00000602349.1_Splice_Site NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CGTCTACTTGGTAAGTCTTGG 0.577000 37 77 9.85521e-28 1.80077e-27 1 1 0 SLC5A7 60482 broad.mit.edu 37 2 108622658 108622658 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:108622658G>T ENST00000264047.2 + 7 1171 c.895_splice c.e7+1 p.D299_splice SLC5A7_ENST00000409059.1_Splice_Site_p.D299_splice|SLC5A7_ENST00000540517.1_Splice_Site_p.D194_splice NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 299 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) AGCATCAACAGGTAAATCTCT 0.532000 28 95 1.80694e-10 2.40696e-10 1 1 0 GPR112 139378 broad.mit.edu 37 X 135487937 135487937 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:135487937G>T ENST00000394143.1 + 23 9032 c.8741G>T c.(8740-8742)tGc>tTc p.C2914F GPR112_ENST00000370652.1_Missense_Mutation_p.C2914F|GPR112_ENST00000412101.1_Missense_Mutation_p.C2709F|GPR112_ENST00000394141.1_Missense_Mutation_p.C2709F|GPR112_ENST00000287534.4_Missense_Mutation_p.C2667F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2914 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.C2914F(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCCATGTTCTGCACTGTTCTT 0.398000 25 109 9.57634e-11 1.2904e-10 1 1 0 CLCN2 1181 broad.mit.edu 37 3 184076081 184076081 + Missense_Mutation SNP G G A rs139188499 byFrequency TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:184076081G>A ENST00000265593.4 - 4 541 c.370C>T c.(370-372)Cgg>Tgg p.R124W CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.R80W|CLCN2_ENST00000457512.1_Missense_Mutation_p.R124W|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R124W NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 124 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TTCAAGCCCCGGGACATCCAC 0.617000 28 103 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519393 49519393 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:49519393A>T ENST00000221421.2 - 3 357 c.358T>A c.(358-360)Tgt>Agt p.C120S NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 120 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) GGACCCCCACAGTCAGAGGTG 0.657000 28 48 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3645675 3645675 + Silent SNP G G A rs149315267 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:3645675G>A ENST00000294008.3 - 9 2584 c.1944C>T c.(1942-1944)ggC>ggT p.G648G NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 648 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GAGGAAGGCCGCCGGGCACCA 0.622000 Direct reversal of damage 5 43 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42990792 42990792 + Silent SNP G G T rs146725018 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:42990792G>T ENST00000253408.5 - 4 690 c.625C>A c.(625-627)Cgg>Agg p.R209R GFAP_ENST00000435360.2_Silent_p.R209R|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Silent_p.R209R|GFAP_ENST00000588735.1_Intron NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 209 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TGGAGTTCCCGAACCTCCTGA 0.637000 9 30 1.12685e-05 1.26454e-05 1 1 0 GAD1 2571 broad.mit.edu 37 2 171704266 171704266 + Silent SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:171704266T>C ENST00000358196.3 + 11 1633 c.1083T>C c.(1081-1083)gaT>gaC p.D361D NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 361 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGATTGCAGATATATGTGAGA 0.418000 64 209 0 0 1 0 0 TCEANC 170082 broad.mit.edu 37 X 13681008 13681008 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:13681008C>G ENST00000380600.1 + 2 468 c.381C>G c.(379-381)gaC>gaG p.D127E TCEANC_ENST00000544987.1_Missense_Mutation_p.D127E|TCEANC_ENST00000545566.1_Missense_Mutation_p.D127E|TCEANC_ENST00000314720.4_Missense_Mutation_p.D157E|TCEANC_ENST00000490617.1_3'UTR Q8N8B7 TEANC_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 127 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1) 9 CTTCCCAAGACGTTGCAAAAC 0.448000 16 52 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101670703 101670703 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:101670703G>A ENST00000409318.1 - 4 628 c.498C>T c.(496-498)ttC>ttT p.F166F TBC1D8_ENST00000376840.4_Silent_p.F151F NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 151 GRAM 1. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CGGGGAAGTTGAACCTGGCCT 0.622000 3 10 0 0 1 0 0 CCDC81 60494 broad.mit.edu 37 11 86131086 86131086 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:86131086C>A ENST00000278487.3 + 13 2092 c.1013C>A c.(1012-1014)gCt>gAt p.A338D CCDC81_ENST00000528728.1_Missense_Mutation_p.A338D|CCDC81_ENST00000445632.2_Missense_Mutation_p.A603D|CCDC81_ENST00000354755.1_Missense_Mutation_p.A513D Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 603 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) GAGGACAAGGCTTTTGAACGG 0.512000 29 88 3.57733e-08 4.40384e-08 1 1 0 CFP 5199 broad.mit.edu 37 X 47486200 47486200 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:47486200G>A ENST00000247153.3 - 7 1153 c.912C>T c.(910-912)caC>caT p.H304H CFP_ENST00000396992.3_Silent_p.H304H|CFP_ENST00000377005.2_Silent_p.H304H NM_002621.2 NP_002612.1 P27918 PROP_HUMAN complement factor properdin 304 TSP type-1 4. complement activation, alternative pathway|defense response to bacterium extracellular space breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 18 TGTTGCAGATGTGGGTCCGGG 0.627000 6 40 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158651357 158651357 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:158651357A>G ENST00000368148.3 - 4 671 c.491T>C c.(490-492)gTa>gCa p.V164A SPTA1_ENST00000368147.3_Missense_Mutation_p.V164A NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 164 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACACTCCTGTACATACTGCTG 0.547000 76 224 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039452 248039452 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:248039452G>T ENST00000366481.3 + 6 1170 c.1122G>T c.(1120-1122)acG>acT p.T374T OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 374 B30.2/SPRY. T -> M (in dbSNP:rs3811444). intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGGAAACCACGCCATCTCCTG 0.557000 30 82 1.88708e-17 2.98681e-17 1 1 0 MYH4 4622 broad.mit.edu 37 17 10347929 10347929 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:10347929C>T ENST00000255381.2 - 39 5769 c.5659G>A c.(5659-5661)Gaa>Aaa p.E1887K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1887 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 ACAGCCTCTTCAGCTTGTCTC 0.438000 40 58 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94006169 94006169 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:94006169A>G ENST00000282020.4 + 3 526 c.268A>G c.(268-270)Atc>Gtc p.I90V GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 90 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAATCAAGGCATCTTGGCCCT 0.488000 10 70 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39021133 39021133 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:39021133C>A ENST00000251643.4 - 3 755 c.732G>T c.(730-732)ctG>ctT p.L244L NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 244 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CGGTCCTGGTCAGGGTCAGCT 0.587000 51 277 9.40368e-32 1.76921e-31 1 1 0 EBF2 64641 broad.mit.edu 37 8 25708217 25708217 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:25708217G>A ENST00000520164.1 - 15 2126 c.1589C>T c.(1588-1590)tCt>tTt p.S530F EBF2_ENST00000408929.3_Missense_Mutation_p.S382F|EBF2_ENST00000535548.1_3'UTR NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 530 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.S530Y(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AAAAACTGAAGAGGAAAATGG 0.498000 15 78 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55697675 55697675 + Missense_Mutation SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:55697675G>C ENST00000376350.3 - 16 2718 c.2696C>G c.(2695-2697)aCa>aGa p.T899R PTPRH_ENST00000263434.5_Missense_Mutation_p.T721R NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 899 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GTCACCCACTGTCTGTGGCAG 0.632000 21 36 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14181674 14181674 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:14181674G>T ENST00000382080.1 - 3 989 c.274C>A c.(274-276)Cga>Aga p.R92R SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 79 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.R92*(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CCTTCAAGTCGGATTCCCTTC 0.358000 36 80 4.14481e-20 6.82329e-20 1 1 0 AGAP11 119385 broad.mit.edu 37 10 88752033 88752033 + RNA SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:88752033C>T ENST00000433214.2 + 0 394 GGTAAATAGCCACTGTGGAGA 0.403000 7 23 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70964914 70964914 + Missense_Mutation SNP C C A rs139981476 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:70964914C>A ENST00000334414.6 - 13 3306 c.3262G>T c.(3262-3264)Gca>Tca p.A1088S PTPRB_ENST00000538708.1_Missense_Mutation_p.A870S|PTPRB_ENST00000451516.2_Missense_Mutation_p.A780S|PTPRB_ENST00000261266.5_Missense_Mutation_p.A870S|PTPRB_ENST00000551525.1_Missense_Mutation_p.A1087S|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1000S|PTPRB_ENST00000550857.1_Missense_Mutation_p.A780S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 870 Fibronectin type-III 13. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TACTCGGTTGCGGTATTTACA 0.458000 17 53 1.99824e-07 2.37206e-07 1 1 0 OR7A10 390892 broad.mit.edu 37 19 14952520 14952520 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:14952520G>T ENST00000248058.1 - 1 169 c.170C>A c.(169-171)aCc>aAc p.T57N NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) GTACATGGGGGTGTGGAGGTG 0.527000 27 44 1.66031e-10 2.21586e-10 1 1 0 CCDC39 339829 broad.mit.edu 37 3 180377362 180377362 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:180377362A>T ENST00000273654.4 - 12 1487 c.868T>A c.(868-870)Ttg>Atg p.L290M CCDC39_ENST00000442201.2_Missense_Mutation_p.L206M Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 206 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GCTTTATCCAATTCTAACTGT 0.328000 26 105 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129276009 129276009 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:129276009C>T ENST00000324093.4 - 34 5681 c.5503G>A c.(5503-5505)Gtg>Atg p.V1835M PLXND1_ENST00000504689.1_De_novo_Start_InFrame|PLXND1_ENST00000393239.1_3'UTR NM_015103.2 NP_055918.2 Q9Y4D7 PLXD1_HUMAN plexin D1 1835 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 TAGCGCTGCACGATCTTCCGG 0.587000 27 92 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65205488 65205488 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:65205488C>T ENST00000247226.7 + 13 1573 c.1265C>T c.(1264-1266)tCc>tTc p.S422F PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S478F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S11F|PLEKHG3_ENST00000484731.2_5'UTR NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 478 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TCTGAAAGCTCCAGGAGCAGC 0.582000 8 12 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91066235 91066235 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:91066235G>T ENST00000395337.2 + 3 530 c.e3-1 NM_032967.2 NP_116749.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 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 CCACTCAACAGCTGATTGCAG 0.368000 23 58 7.26314e-15 1.09733e-14 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541788 55541788 + Missense_Mutation SNP A A C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:55541788A>C ENST00000361760.1 + 1 875 c.875A>C c.(874-876)tAc>tCc p.Y292S NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CCATTGATCTACAGCCTTAGG 0.353000 10 58 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30782131 30782131 + Splice_Site SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr22:30782131C>T ENST00000382363.3 - 3 504 c.e3-1 NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CCCGCCGCATCTGCAGAGGGA 0.602000 6 7 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101765795 101765795 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:101765795C>A ENST00000334289.3 - 8 1257 c.661_splice c.e8-1 p.G221_splice NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 221 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CCAAAATTCTCCTGTAAAAAA 0.269000 14 25 9.31168e-06 1.05001e-05 1 1 0 MAGEB4 4115 broad.mit.edu 37 X 30261171 30261171 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:30261171G>A ENST00000378982.2 + 1 1115 c.919G>A c.(919-921)Gct>Act p.A307T NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 307 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 TTATGAAGAGGCTTTGAGAGA 0.527000 9 93 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97269310 97269310 + Nonsense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:97269310G>A ENST00000523821.1 - 3 486 c.367C>T c.(367-369)Cag>Tag p.Q123* MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.Q2*|MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.Q123* Q96E29 MTER1_HUMAN MTERF domain containing 1 123 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) GAAATTGGCTGCATTGGAGAC 0.413000 29 90 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126716037 126716037 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:126716037C>A ENST00000309035.6 - 1 422 c.292G>T c.(292-294)Gtg>Ttg p.V98L CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCAGACATCACTGCCTGTCTG 0.602000 30 44 3.11337e-16 4.85075e-16 1 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627815 43627815 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:43627815C>A ENST00000332857.6 - 4 900 c.872G>T c.(871-873)tGc>tTc p.C291F SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GTTAAAGGCGCACGAGGTTCT 0.562000 87 359 3.17824e-57 6.39312e-57 1 1 0 OR13C8 138802 broad.mit.edu 37 9 107331901 107331901 + Silent SNP T T G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:107331901T>G ENST00000335040.1 + 1 453 c.453T>G c.(451-453)acT>acG p.T151T NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CCTGGGTCACTGGGCTTGTGG 0.493000 30 59 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103839 53103839 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:53103839C>T ENST00000408890.4 + 1 491 c.475C>T c.(475-477)Cgc>Tgc p.R159C NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 159 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACAGAGAgcccgccccgcagg 0.721000 8 28 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157740232 157740232 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:157740232T>C ENST00000361516.3 - 3 325 c.277A>G c.(277-279)Aaa>Gaa p.K93E FCRL2_ENST00000392274.3_Missense_Mutation_p.K93E|FCRL2_ENST00000368181.4_Missense_Mutation_p.K93E NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 93 Ig-like C2-type 1. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTTGAAGTTTTATCCCAGAGA 0.413000 27 119 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149671598 149671598 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:149671598C>A ENST00000370401.2 + 6 2405 c.2095C>A c.(2095-2097)Ctc>Atc p.L699I MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000455522.2_Missense_Mutation_p.L139I|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L674I|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L699I Q13495 MAMD1_HUMAN mastermind-like domain containing 1 699 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCAGGTCAGCCTCGGGCGACA 0.602000 34 238 3.86903e-22 6.57076e-22 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169412906 169412906 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:169412906C>A ENST00000256935.8 + 29 3053 c.2973C>A c.(2971-2973)gcC>gcA p.A991A DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A52A|DOCK2_ENST00000520908.1_Silent_p.A483A NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 991 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTGGATGGCCATGAGCATGG 0.463000 86 103 1.17954e-47 2.32575e-47 1 1 0 MCM5 4174 broad.mit.edu 37 22 35812739 35812739 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr22:35812739C>A ENST00000216122.4 + 12 1676 c.1522C>A c.(1522-1524)Ccc>Acc p.P508T MCM5_ENST00000382011.5_Missense_Mutation_p.P465T NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 508 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|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 TGACTTCATGCCCACCATCTT 0.597000 16 84 4.14922e-12 5.80391e-12 1 1 0 TBX3 6926 broad.mit.edu 37 12 115120936 115120936 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:115120936G>T ENST00000349155.2 - 1 1033 c.70C>A c.(70-72)Cgg>Agg p.R24R TBX3_ENST00000257566.3_Silent_p.R24R NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 24 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TCCGGCGCCCGGTGAGGTAGG 0.697000 OREG0022153 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 73 1.10513e-12 1.56467e-12 1 1 0 USP9X 8239 broad.mit.edu 37 X 41043333 41043333 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:41043333C>A ENST00000324545.7 + 22 3864 c.3231C>A c.(3229-3231)gaC>gaA p.D1077E USP9X_ENST00000378308.2_Missense_Mutation_p.D1077E NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1077 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 CATCTCTTGACTCACTTTTCT 0.363000 29 230 3.57733e-08 4.40384e-08 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21784589 21784589 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:21784589G>A ENST00000328843.6 + 52 8470 c.8439G>A c.(8437-8439)gtG>gtA p.V2813V DNAH11_ENST00000409508.3_Silent_p.V2806V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2813 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACTGGGAAGTGCTGAAGACGA 0.433000 Kartagener syndrome 6 16 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229771970 229771970 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:229771970T>A ENST00000258243.2 + 4 1746 c.1610T>A c.(1609-1611)cTg>cAg p.L537Q NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 537 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GACATGGCCCTGAAATCACTG 0.547000 24 108 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780050 37780050 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:37780050C>A ENST00000447769.1 + 4 344 c.55C>A c.(55-57)Cac>Aac p.H19N EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.H19N Q7Z602 GP141_HUMAN G protein-coupled receptor 141 19 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGTGACACCCCACTTAATCAG 0.493000 30 249 3.1745e-13 4.5781e-13 1 1 0 LRP5 4041 broad.mit.edu 37 11 68179089 68179089 + Splice_Site SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:68179089G>T ENST00000294304.7 + 11 2609 c.e11+1 NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AACATGCTGGGTGAGGGCCGG 0.662000 11 33 3.86212e-05 4.22533e-05 1 1 0 PNOC 5368 broad.mit.edu 37 8 28196801 28196801 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:28196801A>T ENST00000301908.3 + 3 579 c.371A>T c.(370-372)aAg>aTg p.K124M PNOC_ENST00000522209.1_Missense_Mutation_p.K60M NM_006228.3 NP_006219.1 Q13519 PNOC_HUMAN prepronociceptin 124 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) ATGGAGCAGAAGCAGCTGCAG 0.592000 6 58 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11091357 11091357 + Missense_Mutation SNP G G T rs61996285 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:11091357G>T ENST00000403050.3 + 14 2883 c.2431G>T c.(2431-2433)Gtt>Ttt p.V811F PHF14_ENST00000445996.2_Missense_Mutation_p.V526F NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 811 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AGTGAAATTTGTTCCACAGGA 0.433000 8 57 0.0581538 0.0590849 1 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140750329 140750329 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140750329T>A ENST00000576222.1 + 1 499 c.368T>A c.(367-369)aTc>aAc p.I123N PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGTGCTGATCCAGGATATT 0.443000 31 184 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:7577097C>A ENST00000420246.2 - 8 973 c.841G>T c.(841-843)Gac>Tac p.D281Y TP53_ENST00000269305.4_Missense_Mutation_p.D281Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281Y|TP53_ENST00000455263.2_Missense_Mutation_p.D281Y|TP53_ENST00000445888.2_Missense_Mutation_p.D281Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GTGCGCCGGTCTCTCCCAGGA 0.547000 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) 11 24 0.000673444 0.000713299 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3474314 3474314 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:3474314G>T ENST00000520002.1 - 8 1570 c.1015C>A c.(1015-1017)Caa>Aaa p.Q339K CSMD1_ENST00000602557.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q339K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q339K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q339K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 339 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACACCTCCTTGGCTCACTGTA 0.383000 10 19 2.17888e-05 2.41406e-05 1 1 0 CNGA2 1260 broad.mit.edu 37 X 150911608 150911608 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:150911608G>T ENST00000329903.4 + 6 666 c.633G>T c.(631-633)ctG>ctT p.L211L NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 211 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CCAAGAAACTGCGAGACAACT 0.493000 32 66 7.16026e-08 8.63189e-08 1 1 0 TBR1 10716 broad.mit.edu 37 2 162273508 162273508 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:162273508A>T ENST00000389554.3 + 1 904 c.587A>T c.(586-588)cAg>cTg p.Q196L NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 196 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 TCCTCCACCCAGCCGGGGCTG 0.607000 40 129 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35757437 35757437 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:35757437C>A ENST00000400441.3 - 14 1782 c.1783G>T c.(1783-1785)Gct>Tct p.A595S MROH8_ENST00000217333.8_Missense_Mutation_p.A424S|MROH8_ENST00000441008.2_Missense_Mutation_p.A581S maestro heat-like repeat family member 8 GGGCTTACAGCCACAGCCACA 0.562000 18 91 2.4624e-09 3.17113e-09 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201020186 201020186 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:201020186C>A ENST00000362061.3 - 33 4265 c.4039G>T c.(4039-4041)Ggg>Tgg p.G1347W CACNA1S_ENST00000367338.3_Missense_Mutation_p.G1328W NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1347 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TACTCCTCCCCTGGGGCATAG 0.562000 28 91 2.14196e-07 2.53834e-07 1 1 0 EPHA3 2042 broad.mit.edu 37 3 89448588 89448588 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:89448588G>T ENST00000336596.2 + 7 1777 c.1552G>T c.(1552-1554)Ggg>Tgg p.G518W EPHA3_ENST00000452448.2_Missense_Mutation_p.G518W|EPHA3_ENST00000494014.1_Missense_Mutation_p.G518W NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 518 Fibronectin type-III 2. G -> L (in a lung squamous cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions). extracellular region|integral to plasma membrane ATP binding p.G518L(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CGCTGGATATGGGACGAACAG 0.468000 TSP Lung(6;0.00050) 27 66 2.79863e-10 3.70673e-10 1 1 0 SATL1 340562 broad.mit.edu 37 X 84347563 84347563 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:84347563G>A ENST00000395409.3 - 6 1921 c.1361C>T c.(1360-1362)gCc>gTc p.A454V SATL1_ENST00000509231.1_Silent_p.S627S|SATL1_ENST00000332921.5_Silent_p.S440S Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 454 N-acetyltransferase. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 AGTTGTGATGGCTATCTGTTT 0.353000 4 45 0 0 1 0 0 COPS6 10980 broad.mit.edu 37 7 99688551 99688551 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:99688551C>T ENST00000303904.3 + 6 550 c.513C>T c.(511-513)gtC>gtT p.V171V COPS6_ENST00000418625.1_Silent_p.V170V NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 171 cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TTGAGTCTGTCATTGATATAA 0.448000 87 132 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89418820 89418820 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:89418820C>G ENST00000260508.4 - 10 1217 c.880G>C c.(880-882)Ggt>Cgt p.G294R CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.G260R|CCBL2_ENST00000370485.2_3'UTR NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 294 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGATTTGGACCAATGGACCAG 0.338000 10 66 0 0 1 0 0 OR10A7 121364 broad.mit.edu 37 12 55615577 55615577 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:55615577C>A ENST00000326258.1 + 1 769 c.769C>A c.(769-771)Ctg>Atg p.L257M NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 AACAGCCAGTCTGACCTACCT 0.502000 27 70 3.65163e-15 5.58955e-15 1 1 0 USP17L2 377630 broad.mit.edu 37 8 11995031 11995031 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:11995031G>T ENST00000333796.3 - 1 1555 c.1239C>A c.(1237-1239)ccC>ccA p.P413P FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 413 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.P413P(1) central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CCTGGAGGCAGGGGTGGTCTC 0.567000 14 289 4.7546e-09 6.07823e-09 1 1 0 MARVELD3 91862 broad.mit.edu 37 16 71668340 71668340 + Silent SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:71668340C>G ENST00000268485.3 + 3 884 c.840C>G c.(838-840)ctC>ctG p.L280L MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000565261.1_Intron NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 280 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GTGGAGCCCTCACAGCCCTCT 0.587000 14 93 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89768532 89768532 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:89768532G>A ENST00000448984.1 + 3 482 c.153G>A c.(151-153)caG>caA p.Q51Q TRIM49C_ENST00000432771.1_Silent_p.Q51Q NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 51 intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 TTCTTGTCCAGTGCTCTGAAT 0.453000 23 63 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030541 10030541 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:10030541G>A ENST00000378380.3 + 6 1653 c.1324G>A c.(1324-1326)Gcg>Acg p.A442T ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.A442T|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TCCTGAGTACGCGTTTCCACG 0.463000 14 57 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74345685 74345685 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:74345685C>T ENST00000263681.2 + 10 1193 c.1064C>T c.(1063-1065)cCg>cTg p.P355L POLD3_ENST00000527458.1_Missense_Mutation_p.P316L|POLD3_ENST00000532497.1_Missense_Mutation_p.P249L NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 355 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) CCTCCTCCTCCGTCTCCACCT 0.473000 15 90 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15420855 15420855 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:15420855T>A ENST00000376030.2 + 9 1696 c.1402T>A c.(1402-1404)Tgc>Agc p.C468S NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 468 SAM 1. keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 CGTCAAGGCCTGCACGGAGAA 0.632000 7 26 0 0 1 0 0 RABIF 5877 broad.mit.edu 37 1 202850334 202850334 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:202850334C>A ENST00000367262.3 - 2 180 c.144G>T c.(142-144)atG>atT p.M48I NM_002871.4 NP_002862.2 P47224 MSS4_HUMAN RAB interacting factor 48 cellular membrane fusion|protein transport|small GTPase mediated signal transduction guanyl-nucleotide exchange factor activity|zinc ion binding large_intestine(1)|lung(2)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(75;0.166) GCTTCTTTCTCATGGAGGGAA 0.502000 24 52 9.57634e-11 1.2904e-10 1 1 0 MIR543 100126335 broad.mit.edu 37 14 101498337 101498337 + RNA SNP G G C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:101498337G>C ENST00000390751.1 + 0 14 NR_030619.1 TTAATGAGAAGTTGCCCGTGT 0.502000 15 49 0 0 1 0 0 ANKRD54 129138 broad.mit.edu 37 22 38229026 38229026 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr22:38229026A>G ENST00000215941.4 - 6 851 c.659T>C c.(658-660)cTg>cCg p.L220P ANKRD54_ENST00000411961.2_Missense_Mutation_p.L204P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.L100P NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 220 lung(1) 1 Melanoma(58;0.045) CAGGATATTCAGCTTTGACTT 0.622000 9 42 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532580 50532580 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:50532580A>G ENST00000374144.3 + 3 2278 c.1990A>G c.(1990-1992)Aag>Gag p.K664E C10orf71_ENST00000323868.4_Missense_Mutation_p.K664E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 664 endometrium(1) 1 AGAGAAAATGAAGACCCACCA 0.532000 8 30 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653847 121653847 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:121653847G>T ENST00000393386.2 + 12 5158 c.4747G>T c.(4747-4749)Gca>Tca p.A1583S PTPRZ1_ENST00000449182.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1583 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TGGGATCCTGGCAGCAGGTGA 0.458000 98 224 9.98717e-52 1.99173e-51 1 1 0 TSKS 60385 broad.mit.edu 37 19 50249879 50249879 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:50249879C>A ENST00000246801.3 - 6 922 c.840G>T c.(838-840)caG>caT p.Q280H TSKS_ENST00000358830.3_Missense_Mutation_p.Q80H NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 280 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CGGGGCAGCCCTGGGACGTGG 0.736000 10 16 0.00010058 0.000109353 1 1 0 FAT3 120114 broad.mit.edu 37 11 92570836 92570836 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:92570836G>T ENST00000298047.6 + 16 10249 c.10232G>T c.(10231-10233)gGa>gTa p.G3411V FAT3_ENST00000409404.2_Missense_Mutation_p.G3411V|FAT3_ENST00000525166.1_Missense_Mutation_p.G3261V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3411 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGGTGTCTGGATACTCTCTG 0.493000 TCGA Ovarian(4;0.039) 16 50 3.41278e-10 4.47767e-10 1 1 0 LTBP1 4052 broad.mit.edu 37 2 33482359 33482359 + Nonsense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:33482359A>T ENST00000404816.2 + 12 2529 c.2176A>T c.(2176-2178)Aag>Tag p.K726* LTBP1_ENST00000354476.3_Nonsense_Mutation_p.K726*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.K400*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.K400*|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.K400* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 726 TB 2. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGCTGCTTTTAAGGAAATCTG 0.383000 17 51 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241033401 241033401 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:241033401C>G ENST00000366565.1 - 7 785 c.404G>C c.(403-405)aGa>aCa p.R135T RGS7_ENST00000407727.1_Missense_Mutation_p.R135T|RGS7_ENST00000348120.2_Missense_Mutation_p.R82T|RGS7_ENST00000401882.1_Missense_Mutation_p.R82T|RGS7_ENST00000366563.1_Missense_Mutation_p.R135T|RGS7_ENST00000366564.1_Missense_Mutation_p.R135T|RGS7_ENST00000331110.7_Missense_Mutation_p.R109T|RGS7_ENST00000446183.2_Missense_Mutation_p.R51T|RGS7_ENST00000366562.4_Missense_Mutation_p.R135T NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 135 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTGCATTGTTCTCTTGCAGAG 0.418000 11 96 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57994657 57994657 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:57994657G>T ENST00000354947.5 + 8 893 c.877G>T c.(877-879)Ggc>Tgc p.G293C PIP4K2C_ENST00000422156.3_Missense_Mutation_p.G245C|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.G293C|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.G275C Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 293 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) CATCATTCGGGGCTCTGAACC 0.567000 95 248 5.78178e-49 1.14325e-48 1 1 0 DMD 1756 broad.mit.edu 37 X 33038315 33038315 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:33038315C>A ENST00000357033.4 - 2 240 c.34G>T c.(34-36)Gaa>Taa p.E12* DMD_ENST00000288447.4_Nonsense_Mutation_p.E4*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E8* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 12 Actin-binding. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTCTCTTTCATCTAAAATG 0.254000 4 17 0.00024832 0.00026748 1 1 0 CDH18 1016 broad.mit.edu 37 5 19612563 19612563 + Missense_Mutation SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:19612563T>A ENST00000507958.1 - 8 1781 c.791A>T c.(790-792)aAc>aTc p.N264I CDH18_ENST00000502796.1_Missense_Mutation_p.N264I|CDH18_ENST00000511273.1_Missense_Mutation_p.N264I|CDH18_ENST00000506372.1_Missense_Mutation_p.N264I|CDH18_ENST00000274170.4_Missense_Mutation_p.N264I|CDH18_ENST00000382275.1_Missense_Mutation_p.N264I Q13634 CAD18_HUMAN cadherin 18, type 2 264 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCGTGGTGGGTTGTCATTGAC 0.383000 27 60 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 910208 910208 + Silent SNP T T A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:910208T>A ENST00000316157.3 - 3 184 c.144A>T c.(142-144)gtA>gtT p.V48V NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 48 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TAGTTGCTGGTACCTAGGAAG 0.433000 5 47 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20832989 20832989 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:20832989A>T ENST00000359062.3 + 16 3250 c.3210A>T c.(3208-3210)aaA>aaT p.K1070N PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1070 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AAAGGAGAAAAATCTACTGCC 0.363000 11 74 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103309520 103309520 + Nonsense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr13:103309520G>T ENST00000376052.3 + 25 3122 c.3106G>T c.(3106-3108)Gaa>Taa p.E1036* TPP2_ENST00000376065.4_Nonsense_Mutation_p.E1023*|TPP2_ENST00000466153.1_3'UTR P29144 TPP2_HUMAN tripeptidyl peptidase II 1023 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGAGTTTACTGAAGCATTACG 0.284000 37 62 1.71298e-08 2.14276e-08 1 1 0 GOT1L1 137362 broad.mit.edu 37 8 37793267 37793267 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:37793267C>T ENST00000307599.4 - 7 983 c.884G>A c.(883-885)cGt>cAt p.R295H GOT1L1_ENST00000518826.1_Missense_Mutation_p.R36H NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 295 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) GGTGATGACACGTGCACCCGT 0.617000 6 49 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75227664 75227664 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:75227664C>A ENST00000342232.4 - 2 611 c.571G>T c.(571-573)Ggc>Tgc p.G191C NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 191 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) ACGAAACCGCCGCGGGTGCCG 0.682000 21 59 1.64113e-05 1.82989e-05 1 1 0 OR7A10 390892 broad.mit.edu 37 19 14952518 14952518 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:14952518G>A ENST00000248058.1 - 1 171 c.172C>T c.(172-174)Ccc>Tcc p.P58S NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) AAGTACATGGGGGTGTGGAGG 0.527000 28 47 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29773638 29773638 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:29773638C>T ENST00000375398.2 - 29 5351 c.4902G>A c.(4900-4902)gaG>gaA p.E1634E PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.E1208E|SVIL_ENST00000538146.1_Silent_p.E426E|SVIL_ENST00000535393.1_Silent_p.E548E|SVIL_ENST00000355867.4_Silent_p.E1634E O95425 SVIL_HUMAN supervillin 1634 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGTCACAGTTCTCATAGTCAA 0.493000 5 27 0 0 1 0 0 KLF8 11279 broad.mit.edu 37 X 56291997 56291997 + Missense_Mutation SNP A A T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:56291997A>T ENST00000374928.3 + 4 952 c.466A>T c.(466-468)Atc>Ttc p.I156F KLF8_ENST00000468660.1_Missense_Mutation_p.I156F NM_001159296.1 NP_001152768.1 O95600 KLF8_HUMAN Kruppel-like factor 8 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(4)|large_intestine(6)|lung(5)|ovary(1) 16 TAGCCAGCAGATCTTACATGT 0.517000 34 105 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153591030 153591030 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:153591030C>A ENST00000422373.1 - 16 2651 c.2404_splice c.e16+1 p.Q801_splice FLNA_ENST00000369850.3_Splice_Site_p.Q801_splice|FLNA_ENST00000344736.4_Splice_Site_p.Q801_splice|FLNA_ENST00000360319.4_Splice_Site_p.Q801_splice NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 801 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGCCTTACCCTGGCCAGCCT 0.672000 7 43 0.0293803 0.0299379 1 1 0 ITGA5 3678 broad.mit.edu 37 12 54799678 54799678 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:54799678G>T ENST00000293379.4 - 10 1200 c.939C>A c.(937-939)tcC>tcA p.S313S RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 313 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AGTTGTAGAGGGATCGAATGT 0.522000 26 109 2.08973e-25 3.73051e-25 1 1 0 RRAD 6236 broad.mit.edu 37 16 66956151 66956151 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:66956151C>A ENST00000299759.6 - 5 1005 c.755G>T c.(754-756)cGc>cTc p.R252L RRAD_ENST00000420652.1_Missense_Mutation_p.R252L P55042 RAD_HUMAN Ras-related associated with diabetes 252 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) CCTGCGCAGGCGTATCTGGCG 0.607000 8 42 0.000274275 0.000294077 1 1 0 PHLDB2 90102 broad.mit.edu 37 3 111604428 111604428 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:111604428C>T ENST00000478922.1 + 2 1647 c.1504C>T c.(1504-1506)Cta>Tta p.L502L PHLDB2_ENST00000393923.3_Intron|PHLDB2_ENST00000431670.2_Intron|PHLDB2_ENST00000412622.1_Intron|PHLDB2_ENST00000481953.1_Intron|PHLDB2_ENST00000477695.1_Intron|PHLDB2_ENST00000393925.3_Intron Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 0 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TCCCATATCACTATTAATAGG 0.383000 3 5 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30903521 30903521 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:30903521G>A ENST00000383096.3 - 11 1138 c.956C>T c.(955-957)gCt>gTt p.A319V CCDC178_ENST00000579947.1_Missense_Mutation_p.A319V|CCDC178_ENST00000583930.1_Missense_Mutation_p.A319V|CCDC178_ENST00000403303.1_Missense_Mutation_p.A319V|CCDC178_ENST00000406524.2_Missense_Mutation_p.A319V|CCDC178_ENST00000402325.1_Missense_Mutation_p.A319V|CCDC178_ENST00000300227.8_Missense_Mutation_p.A319V|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 AATTTGCTGAGCCTTCAATCT 0.328000 7 17 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67686425 67686425 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:67686425G>T ENST00000334583.6 + 28 3196 c.2868G>T c.(2866-2868)ctG>ctT p.L956L RLTPR_ENST00000545661.1_Silent_p.L920L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 956 Pro-rich. breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GTCTTCACCTGGTCCCCTTCA 0.587000 3 28 0.004672 0.00483836 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43896073 43896073 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:43896073C>A ENST00000389420.3 - 4 748 c.749G>T c.(748-750)aGg>aTg p.R250M ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R250M NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 250 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACGTTTTTTCCTGGAATGTCT 0.323000 22 84 6.33239e-15 9.62964e-15 1 1 0 ENG 2022 broad.mit.edu 37 9 130586704 130586704 + Missense_Mutation SNP G G T rs45439096 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:130586704G>T ENST00000344849.3 - 8 1293 c.1013C>A c.(1012-1014)cCc>cAc p.P338H ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Missense_Mutation_p.P338H P17813 EGLN_HUMAN endoglin 338 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GATCGGTGCGGGTGAGGTCTG 0.582000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 15 20 1.49906e-05 1.67415e-05 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139661907 139661907 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:139661907C>A ENST00000303045.6 - 46 3894 c.e46+1 COL22A1_ENST00000435777.1_Splice_Site|COL22A1_ENST00000341807.4_Splice_Site NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTTCTCCTTACCTTTTTCCCT 0.493000 HNSCC(7;0.00092) 3 27 0.00909568 0.00930907 1 1 0 ZBTB7B 51043 broad.mit.edu 37 1 154989067 154989067 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:154989067G>T ENST00000368426.3 + 4 1663 c.1526G>T c.(1525-1527)gGg>gTg p.G509V ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G509V|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G543V|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G509V NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 509 GP -> WA (in Ref. 1; AAC51847). cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCCCCACTGGGCCCCCGGTC 0.652000 8 21 5.18039e-06 5.88911e-06 1 1 0 DSC2 1824 broad.mit.edu 37 18 28651722 28651722 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr18:28651722C>A ENST00000280904.6 - 13 2417 c.1974G>T c.(1972-1974)atG>atT p.M658I DSC2_ENST00000251081.6_Missense_Mutation_p.M658I NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 658 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TGACACTAGACATGCCAAGTC 0.418000 8 34 0.000157383 0.000170845 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351457 60351457 + Silent SNP G G A rs4968502 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:60351457G>A ENST00000602932.1 - 2 234 c.204C>T c.(202-204)cgC>cgT p.R68R TBC1D3P2_ENST00000581291.1_RNA CCAACTACCCGCGACCTCTAC 0.537000 12 339 0 0 1 0 0 NEU4 129807 broad.mit.edu 37 2 242757559 242757559 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:242757559C>A ENST00000391969.2 + 5 1351 c.640C>A c.(640-642)Ctc>Atc p.L214I NEU4_ENST00000404257.1_Missense_Mutation_p.L226I|NEU4_ENST00000405370.1_Missense_Mutation_p.L214I|NEU4_ENST00000325935.6_Missense_Mutation_p.L227I|NEU4_ENST00000407683.1_Missense_Mutation_p.L214I NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 214 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-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) CTGTGGAGGCCTCGTGCCCAA 0.682000 9 18 4.68919e-08 5.72212e-08 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88962934 88962934 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:88962934C>A ENST00000333190.4 + 4 1247 c.638C>A c.(637-639)gCa>gAa p.A213E NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 213 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTCAGCAATGCAAATCACAGA 0.393000 HNSCC(36;0.09) 24 101 3.08376e-08 3.81643e-08 1 1 0 SLC38A1 81539 broad.mit.edu 37 12 46582854 46582854 + Splice_Site SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:46582854C>A ENST00000398637.5 - 17 2057 c.1362_splice c.e17-1 p.A455_splice SLC38A1_ENST00000546893.1_Splice_Site_p.A455_splice|SLC38A1_ENST00000549049.1_Splice_Site_p.A455_splice|SLC38A1_ENST00000439706.1_Splice_Site_p.A455_splice NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3 NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3 Q9H2H9 S38A1_HUMAN solute carrier family 38, member 1 455 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) AAAAGGGCAGCCTGGAGCAAG 0.483000 20 60 5.35267e-07 6.26873e-07 1 1 0 MGAM 8972 broad.mit.edu 37 7 141768483 141768483 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:141768483C>T ENST00000475668.2 + 43 5095 c.5041C>T c.(5041-5043)Cgt>Tgt p.R1681C MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1681 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CCCTAGAGCCCGTTGGTACGA 0.423000 33 61 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34497158 34497158 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:34497158C>A ENST00000242317.4 + 10 1033 c.862C>A c.(862-864)Cgg>Agg p.R288R NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 288 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GATCATGGAGCGGATGGTCAA 0.403000 Kartagener syndrome 43 187 1.23103e-26 2.2203e-26 1 1 0 TP73-AS1 57212 broad.mit.edu 37 1 3662336 3662336 + RNA SNP C C A rs74910456 TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:3662336C>A ENST00000452079.1 - 0 1550 TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA NR_033711.1 GTGCCGGGCTCCCGAAGCCCA 0.642000 11 28 0.0809354 0.0821118 1 1 0 OPHN1 4983 broad.mit.edu 37 X 67283997 67283997 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:67283997C>A ENST00000355520.5 - 21 2498 c.1857G>T c.(1855-1857)ccG>ccT p.P619P OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 619 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TAGTACCATTCGGTGTTTGAT 0.433000 47 136 1.51926e-22 2.6055e-22 1 1 0 TRAPPC5 126003 broad.mit.edu 37 19 7747565 7747565 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:7747565C>T ENST00000317378.5 + 2 613 c.426C>T c.(424-426)ttC>ttT p.F142F TRAPPC5_ENST00000596148.1_Silent_p.F142F|TRAPPC5_ENST00000426877.2_Silent_p.F142F|TRAPPC5_ENST00000595985.1_Silent_p.F75F|CTD-3214H19.16_ENST00000597959.1_3'UTR NM_174894.2 NP_777554.1 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 142 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding NS(1)|lung(2) 3 GCGCCAGCTTCACGGCGGGCA 0.622000 8 14 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122757776 122757776 + Missense_Mutation SNP T T G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:122757776T>G ENST00000245838.8 - 28 3396 c.3365A>C c.(3364-3366)aAt>aCt p.N1122T THOC2_ENST00000355725.4_Missense_Mutation_p.N1122T|THOC2_ENST00000491737.1_Missense_Mutation_p.N1007T NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1122 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 AATCAAGATATTCCTGATGTG 0.358000 19 133 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079922 38079922 + Missense_Mutation SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:38079922G>A ENST00000356545.2 - 6 1157 c.370C>T c.(370-372)Cgc>Tgc p.R124C RSPO1_ENST00000373059.1_Missense_Mutation_p.R97C|RSPO1_ENST00000401068.1_Missense_Mutation_p.R124C|RSPO1_ENST00000401071.2_Missense_Mutation_p.R124C|RSPO1_ENST00000401069.1_Missense_Mutation_p.R124C|RSPO1_ENST00000401070.1_Missense_Mutation_p.R124C NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 124 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGATAGCAGCGGCCCTTGTGC 0.577000 13 54 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55539198 55539198 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:55539198G>T ENST00000220676.1 + 4 2904 c.2756G>T c.(2755-2757)tGg>tTg p.W919L NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 919 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATACAGAGTTGGTTGCAGAAC 0.333000 12 63 1.08611e-07 1.29812e-07 1 1 0 TAS2R31 259290 broad.mit.edu 37 12 11183899 11183899 + Silent SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:11183899C>A ENST00000390675.2 - 1 107 c.36G>T c.(34-36)gtG>gtT p.V12V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 12 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GAACCACTACCACACTGGAAA 0.383000 10 81 7.48243e-07 8.67564e-07 1 1 0 MOGAT1 116255 broad.mit.edu 37 2 223574475 223574475 + Missense_Mutation SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:223574475C>G ENST00000446656.3 + 6 874 c.874C>G c.(874-876)Cgt>Ggt p.R292G NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 292 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GATCCCTGTTCGTCAGACTCT 0.498000 69 154 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107823244 107823244 + Missense_Mutation SNP A A G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr7:107823244A>G ENST00000379028.3 - 23 2895 c.2425T>C c.(2425-2427)Tca>Cca p.S809P NRCAM_ENST00000351718.4_Missense_Mutation_p.S793P|NRCAM_ENST00000413765.2_Missense_Mutation_p.S790P|NRCAM_ENST00000379022.4_Missense_Mutation_p.S809P|NRCAM_ENST00000425651.2_Missense_Mutation_p.S809P|NRCAM_ENST00000379024.4_Missense_Mutation_p.S790P Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 809 Fibronectin type-III 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GGCGTGCCTGAGACAATATAT 0.488000 47 103 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26851022 26851022 + Missense_Mutation SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:26851022C>T ENST00000226247.2 + 1 64 c.35C>T c.(34-36)aCg>aTg p.T12M FOXN1_ENST00000579795.1_Missense_Mutation_p.T12M NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 12 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) TCTGACGTCACGCTGCCGGGC 0.672000 8 35 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13363820 13363820 + Missense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:13363820C>A ENST00000254508.5 - 35 4870 c.4788G>T c.(4786-4788)caG>caT p.Q1596H NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1596 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGACTTCCCTCTGGGTGGGGG 0.617000 45 88 3.54909e-21 5.89825e-21 1 1 0 GPIHBP1 338328 broad.mit.edu 37 8 144297150 144297150 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:144297150C>T ENST00000330824.2 + 4 387 c.312C>T c.(310-312)acC>acT p.T104T NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 104 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCCTCCTGACCACCCACTCCA 0.652000 35 92 0 0 1 0 0 IFT52 51098 broad.mit.edu 37 20 42271157 42271157 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:42271157G>T ENST00000373030.3 + 13 1289 c.1159G>T c.(1159-1161)Ggt>Tgt p.G387C IFT52_ENST00000373039.4_Missense_Mutation_p.G387C|IFT52_ENST00000471199.1_3'UTR NM_016004.2 NP_057088.2 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog (Chlamydomonas) 387 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CAGGAAGTGTGGTGATATTCT 0.408000 43 99 1.62957e-23 2.82945e-23 1 1 0 ZSCAN31 64288 broad.mit.edu 37 6 28295182 28295182 + Silent SNP G G A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:28295182G>A ENST00000414429.1 - 7 1413 c.510C>T c.(508-510)tgC>tgT p.C170C ZSCAN31_ENST00000396838.2_Silent_p.C170C|ZSCAN31_ENST00000446474.1_Silent_p.C11C|ZSCAN31_ENST00000344279.6_Silent_p.C170C|ZSCAN31_ENST00000439158.1_Silent_p.C170C zinc finger and SCAN domain containing 31 ATTGGTGGAGGCAAAAAGATT 0.463000 23 134 0 0 1 0 0 CCER1 196477 broad.mit.edu 37 12 91347478 91347478 + Nonsense_Mutation SNP C C A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:91347478C>A ENST00000358859.2 - 1 1475 c.1042G>T c.(1042-1044)Gag>Tag p.E348* CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 TCGTTCTCCTCCAGGAcctcc 0.498000 25 94 7.92952e-12 1.10475e-11 1 1 0 GRIK5 2901 broad.mit.edu 37 19 42560892 42560892 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr19:42560892G>T ENST00000262895.3 - 7 824 c.825C>A c.(823-825)ccC>ccA p.P275P GRIK5_ENST00000301218.4_Silent_p.P275P|GRIK5_ENST00000593562.1_Silent_p.P275P NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 275 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CAGGGTAGAAGGGGTGGGACG 0.582000 27 54 4.7796e-09 6.09902e-09 1 1 0 ABCC5 10057 broad.mit.edu 37 3 183700403 183700403 + Missense_Mutation SNP T T C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr3:183700403T>C ENST00000334444.6 - 7 1075 c.835A>G c.(835-837)Att>Gtt p.I279V ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.I279V NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 279 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TTGGAGCAAATGTTGATGAGC 0.498000 20 75 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33335697 33335697 + Silent SNP C C G TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:33335697C>G ENST00000404816.2 + 4 1265 c.912C>G c.(910-912)acC>acG p.T304T LTBP1_ENST00000354476.3_Silent_p.T304T Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 304 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATGGCCAGACCCAGGAATACG 0.448000 45 137 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131356476 131356476 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr9:131356476G>T ENST00000358161.5 + 24 3351 c.3238G>T c.(3238-3240)Ggt>Tgt p.G1080C SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1080C|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1080C Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1080 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCTGGAACTGGGTGAGAAGCG 0.453000 36 44 6.70999e-13 9.59748e-13 1 1 0 FLRT2 23768 broad.mit.edu 37 14 86087948 86087948 + Silent SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:86087948G>T ENST00000330753.4 + 2 857 c.90G>T c.(88-90)gtG>gtT p.V30V FLRT2_ENST00000554746.1_Silent_p.V30V NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 30 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) ACTCACAGGTGTCCAAACTCC 0.542000 39 103 1.60099e-16 2.49997e-16 1 1 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 101 --- --- --- --- SUSD4 55061 broad.mit.edu 37 1 223402558 223402579 + Frame_Shift_Del DEL TTGATAAGAAGGAAACCACTCT TTGATAAGAAGGAAACCACTCT - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr1:223402558_223402579delTTGATAAGAAGGAAACCACTCT ENST00000343846.3 - 5 1509_1530 c.876_897delAGAGTGGTTTCCTTCTTATCAA c.(874-897)ggfs p.GEWFPSYQ292fs SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Frame_Shift_Del_p.GEWFPSYQ292fs|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.GEWFPSYQ132fs Q5VX71 SUSD4_HUMAN sushi domain containing 4 292 Sushi 4. integral to membrane p.Q299E(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TGCAGTAGACTTGATAAGAAGGAAACCACTCTCCATACTGGC 0.514 8 111 --- --- --- --- IGKV1OR2-118 339562 broad.mit.edu 37 2 90458486 90458486 + Frame_Shift_Del DEL T T - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr2:90458486delT ENST00000603238.1 + 2 162 c.162delT c.(160-162)aafs p.54fs ATAATTTAAATTGGTATCAGC 0.498 23 161 --- --- --- --- GC 2638 broad.mit.edu 37 4 72618268 72618268 + Frame_Shift_Del DEL G G - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr4:72618268delG ENST00000273951.8 - 11 1705 c.1362delC c.(1360-1362)tcfs p.S454fs GC_ENST00000504199.1_Frame_Shift_Del_p.S473fs|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Frame_Shift_Del_p.S454fs NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 454 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GTGAGTTTATGGAACAGCAGT 0.453 30 97 --- --- --- --- PCDHGA3 56112 broad.mit.edu 37 5 140725947 140725948 + Frame_Shift_Del DEL GA GA - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr5:140725947_140725948delGA ENST00000253812.6 + 1 2347_2348 c.2347_2348delGA c.(2347-2349)gfs p.E783fs PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCAGCCAGGAGAGCTGTGAG 0.490 79 121 --- --- --- --- KCNQ5 56479 broad.mit.edu 37 6 73815020 73815020 + Frame_Shift_Del DEL T T - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr6:73815020delT ENST00000342056.2 + 6 1357 c.959delT c.(958-960)cafs p.L320fs KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.L320fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.L320fs NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 320 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAAACTCCCCTAACTTGGCTG 0.403 86 179 --- --- --- --- CDH17 1015 broad.mit.edu 37 8 95158285 95158285 + Frame_Shift_Del DEL G G - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr8:95158285delG ENST00000027335.3 - 15 2162 c.2038delC c.(2038-2040)tcfs p.L680fs CDH17_ENST00000450165.2_Frame_Shift_Del_p.L680fs|CDH17_ENST00000441892.2_Frame_Shift_Del_p.L466fs NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 680 Cadherin 7. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GGTGCACTGAGGGGATGGCAG 0.502 22 75 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 4 9 --- --- --- --- OR10Q1 219960 broad.mit.edu 37 11 57995829 57995829 + Frame_Shift_Del DEL G G - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr11:57995829delG ENST00000316770.2 - 1 561 c.519delC c.(517-519)tgfs p.C173fs NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C173C(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GGTGGTGGCCGCAAAAGGGCA 0.652 11 44 --- --- --- --- PTPN6 5777 broad.mit.edu 37 12 7064388 7064388 + Frame_Shift_Del DEL G G - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:7064388delG ENST00000456013.1 + 5 833 c.591delG c.(589-591)acfs p.T197fs PTPN6_ENST00000399448.1_Frame_Shift_Del_p.T199fs|PTPN6_ENST00000447931.2_Frame_Shift_Del_p.T158fs|PTPN6_ENST00000318974.9_Frame_Shift_Del_p.T197fs NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 197 SH2 2. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 TCAAGAAGACGGGGATTGAGG 0.622 33 133 --- --- --- --- A2ML1 144568 broad.mit.edu 37 12 8998750 8998751 + Frame_Shift_Ins INS - - T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:8998750_8998751insT ENST00000299698.7 + 14 1795_1796 c.1615_1616insT c.(1615-1617)tttfs p.F539fs A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Frame_Shift_Ins_p.F48fs NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 383 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GATCTATGCCATTTTTCCCAGT 0.455 33 158 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100441868 100441869 + Frame_Shift_Ins INS - - T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr12:100441868_100441869insT ENST00000279907.7 - 18 4036_4037 c.3824_3825insA c.(3823-3825)aggfs p.R1275fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R925fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1275 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GCAGAAATCCATTTTTTTCTGC 0.371 11 80 --- --- --- --- EXOC5 10640 broad.mit.edu 37 14 57735365 57735366 + Translation_Start_Site INS - - T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr14:57735365_57735366insT ENST00000413566.2 - 0 360_361 EXOC5_ENST00000340918.7_Start_Codon_Ins NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 CGTGGTAGCCATCCCGGCCGGC 0.738 2 4 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736370 30736371 + Frame_Shift_Ins INS - - C TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr16:30736370_30736371insC ENST00000262518.4 + 25 6010_6011 c.5625_5626insC c.(5623-5628)caccccfs p.HP1875fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1875 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTCGACGCCAGCCCCCCCCACC 0.569 7 329 --- --- --- --- PCGF2 7703 broad.mit.edu 37 17 36895068 36895070 + In_Frame_Del DEL CTC CTC - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:36895068_36895070delCTC ENST00000580830.1 - 8 1062_1064 c.361_363delGAG c.(361-363)del p.E121del PCGF2_ENST00000581345.1_In_Frame_Del_p.E121del|PCGF2_ENST00000585100.1_In_Frame_Del_p.E121del|PCGF2_ENST00000579882.1_In_Frame_Del_p.E121del|PCGF2_ENST00000360797.2_In_Frame_Del_p.E121del|PCGF2_ENST00000578109.1_In_Frame_Del_p.E67del P35227 PCGF2_HUMAN polycomb group ring finger 2 121 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) GAGCCCCCTTCTCCTGCTCCAAG 0.601 9 201 --- --- --- --- ITGA2B 3674 broad.mit.edu 37 17 42457436 42457437 + Frame_Shift_Del DEL GG GG - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr17:42457436_42457437delGG ENST00000262407.5 - 17 1716_1717 c.1685_1686delCC c.(1684-1686)afs p.T563fs ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.T563fs|ITGA2B_ENST00000377068.3_3'UTR NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 563 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGTTCAGGGTGGTGCCTGCCTG 0.673 16 52 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 4 --- --- --- --- IL1RAPL1 11141 broad.mit.edu 37 X 28807530 28807530 + Frame_Shift_Del DEL A A - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:28807530delA ENST00000378993.1 + 2 743 c.70delA c.(70-72)aafs p.K24fs IL1RAPL1_ENST00000302196.4_Frame_Shift_Del_p.K24fs NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 24 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GGTTGTGACCAAAAGAGGCTC 0.398 19 83 --- --- --- --- ZNF75D 7626 broad.mit.edu 37 X 134426224 134426225 + Frame_Shift_Ins INS - - A TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:134426224_134426225insA ENST00000370766.3 - 4 3295_3296 c.586_587insT c.(586-588)gccfs p.A196fs ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 196 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 ATATACAGGCTGGGTTTCTTTG 0.465 19 160 --- --- --- --- GAB3 139716 broad.mit.edu 37 X 153908478 153908490 + Frame_Shift_Del DEL CCACGTAAGGGCA CCACGTAAGGGCA - TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx C09B60EF-3DCD-4F14-98EA-E6391D4F14BE F15A5144-1276-4D12-8A01-C3C6644FEE4F g.chrX:153908478_153908490delCCACGTAAGGGCA ENST00000369575.3 - 9 1594_1606 c.1563_1575delTGCCCTTACGTGG c.(1561-1575)ggfs p.GALTW521fs GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Frame_Shift_Del_p.GALTW522fs NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 521 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ATTTCTTTGTCCACGTAAGGGCACCACTGCTCA 0.507 21 255 --- --- --- ---